Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut PDZRN3 23024 broad.mit.edu 37 3 73433842 73433842 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:73433842G>A uc003dpl.1 - 9 1971 c.1875C>T c.(1873-1875)ttC>ttT p.F625F PDZRN3_uc011bgh.1_Silent_p.F282F|PDZRN3_uc010hoe.1_Silent_p.F323F|PDZRN3_uc021xaq.1_5'UTR|PDZRN3_uc011bgf.1_Silent_p.F342F|PDZRN3_uc011bgg.1_Silent_p.F345F NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA. 625 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CGGCCGAAATGAAAGACTCGT 0.662000 87 5 0 0 1 0 0 ZMYND15 84225 broad.mit.edu 37 17 4645307 4645307 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:4645307C>T uc002fyu.2 + 2 955 c.925C>T c.(925-927)Cgt>Tgt p.R309C CXCL16_uc002fyr.4_5'Flank|CXCL16_uc002fys.4_5'Flank|ZMYND15_uc002fyv.2_Missense_Mutation_p.R309C|ZMYND15_uc002fyt.2_Missense_Mutation_p.R309C NM_001136046 NP_001129518 Q9H091 ZMY15_HUMAN Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA. 309 zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 TGCTTCCCTTCGTGCTCGAAC 0.577000 83 4 0 0 1 0 0 IL17RD 54756 broad.mit.edu 37 3 57132258 57132258 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:57132258G>A uc003dil.3 - 11 1562 c.1473C>T c.(1471-1473)atC>atT p.I491I IL17RD_uc003dik.3_Silent_p.I467I|IL17RD_uc010hna.3_Silent_p.I347I|IL17RD_uc011bex.1_Silent_p.I347I NM_017563 NP_060033 Q8NFM7 I17RD_HUMAN Homo sapiens interleukin 17 receptor D (IL17RD), mRNA. 491 SEFIR. Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) TCAGGTCTAGGATACCGGGGA 0.582000 26 4 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110778717 110778717 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:110778717C>T uc001tqk.4 + 13 2578 c.2015C>T c.(2014-2016)gCc>gTc p.A672V ATP2A2_uc001tql.4_Missense_Mutation_p.A672V|ATP2A2_uc021rdt.1_Missense_Mutation_p.A520V NM_170665 NP_733765 P16615 AT2A2_HUMAN Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA. 672 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 TGCCTGAACGCCCGCTGTTTT 0.507000 31 4 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42424830 42424830 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:42424830C>T uc003gwr.2 - 34 3531 c.3299G>A c.(3298-3300)gGa>gAa p.G1100E ATP8A1_uc003gwq.2_Missense_Mutation_p.G326E|ATP8A1_uc003gws.2_Missense_Mutation_p.G1085E NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA. 1100 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TTACCTTTTTCCAAGTACAAC 0.343000 101 20 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44079696 44079696 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:44079696G>A uc003bdy.2 - 11 1496 c.1182C>T c.(1180-1182)atC>atT p.I394I EFCAB6_uc003bdz.2_Silent_p.I242I|EFCAB6_uc010gzi.2_Silent_p.I242I|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Silent_p.I391I NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding p.I393S(1) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ATAACTTTGTGATGATGTTTT 0.348000 88 6 0 0 1 0 0 KREMEN1 83999 broad.mit.edu 37 22 29533450 29533450 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:29533450C>T uc011akm.1 + 5 805 c.752C>T c.(751-753)gCc>gTc p.A251V KREMEN1_uc003ael.3_Missense_Mutation_p.A251V|KREMEN1_uc011akn.2_Missense_Mutation_p.A134V NM_032045 NP_114434 Q96MU8 KREM1_HUMAN Homo sapiens kringle containing transmembrane protein 1 (KREMEN1), transcript variant 2, mRNA. 249 CUB. Wnt receptor signaling pathway|cell communication|regulation of canonical Wnt receptor signaling pathway integral to membrane|membrane fraction protein binding breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 20 GTTCCGGGGGCCTCCCACATC 0.602000 76 9 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31690883 31690883 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:31690883G>A uc011kae.2 + 12 2801 c.2789_splice c.e12+1 p.R930_splice CCDC129_uc011kad.1_Splice_Site_p.R914_splice|CCDC129_uc003tcj.1_Splice_Site_p.R904_splice|CCDC129_uc003tci.1_Splice_Site_p.R755_splice|CCDC129_uc003tck.1_Splice_Site_p.R812_splice NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA. 904 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 GAGGAGGAAAGGTAATTACCT 0.483000 18 3 0 0 1 0 0 NEU1 4758 broad.mit.edu 37 6 31829215 31829215 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31829215G>A uc003nxq.4 - 2 521 c.365C>T c.(364-366)tCt>tTt p.S122F NM_000434 NP_000425 Q99519 NEUR1_HUMAN Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA. 122 cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane exo-alpha-sialidase activity|protein binding kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 Oseltamivir(DB00198)|Zanamivir(DB00558) CGCTGTAGGAGACCATGTGCT 0.488000 209 18 0 0 1 0 0 ZNF648 127665 broad.mit.edu 37 1 182026704 182026704 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:182026704C>T uc001goz.3 - 1 650 c.442G>A c.(442-444)Ggt>Agt p.G148S ZNF648_uc021pfu.1_Missense_Mutation_p.G148S NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN Homo sapiens zinc finger protein 648 (ZNF648), mRNA. 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A147A(1) breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 CCATCATCACCCGCAGGTAGT 0.562000 60 11 0 0 1 0 0 AARS2 57505 broad.mit.edu 37 6 44272223 44272223 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:44272223G>A uc010jza.1 - 12 1803 c.1800C>T c.(1798-1800)atC>atT p.I600I TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA. 600 alanyl-tRNA aminoacylation mitochondrion ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CCTCATGCAGGATGAAACCTC 0.602000 OREG0017473 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 7 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151788957 151788957 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:151788957G>A uc010ipj.3 - 21 2876 c.2632C>T c.(2632-2634)Cct>Tct p.P878S LRBA_uc003ilu.4_Missense_Mutation_p.P878S NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 878 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) GAATTCTTAGGATTAAAATAG 0.388000 44 4 0 0 1 0 0 CHIA 27159 broad.mit.edu 37 1 111861114 111861114 + Splice_Site SNP G A A rs144676218 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:111861114G>A uc001eas.3 + 9 887 c.730_splice c.e9-1 p.D244_splice CHIA_uc001ear.3_Splice_Site_p.D136_splice|CHIA_uc001eaq.3_Splice_Site_p.D136_splice|CHIA_uc009wgc.3_Splice_Site_p.D136_splice|CHIA_uc001eat.3_Splice_Site_p.D83_splice|CHIA_uc001eav.3_Splice_Site_p.D83_splice|CHIA_uc001eau.3_Splice_Site_p.D83_splice|CHIA_uc009wgd.3_Splice_Site_p.D83_splice NM_201653 NP_068569 Q9BZP6 CHIA_HUMAN Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA. 244 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) TGACATTGCAGGATTATGTCA 0.463000 55 5 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125514272 125514272 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:125514272G>A uc001lhk.1 - 12 2249 c.1924C>T c.(1924-1926)Cgt>Tgt p.R642C CPXM2_uc001lhj.3_Non-coding_Transcript NM_198148 NP_937791 Q8N436 CPXM2_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA. 642 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TTAATGCCACGATGAACCTGC 0.517000 93 9 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207648364 207648364 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:207648364G>A uc001hfw.3 + 12 2461 c.2342G>A c.(2341-2343)cGa>cAa p.R781Q CR2_uc001hfv.3_Missense_Mutation_p.R840Q|CR2_uc009xch.3_Missense_Mutation_p.R781Q NM_001877 NP_001868 P20023 CR2_HUMAN Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA. 781 Sushi 12. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 CAGTGCTTACGATCTCCTCCT 0.453000 11 5 0 0 1 0 0 C3orf15 89876 broad.mit.edu 37 3 119445065 119445065 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:119445065G>A uc003ede.4 + 6 807 c.730G>A c.(730-732)Gcc>Acc p.A244T C3orf15_uc010hqy.2_Missense_Mutation_p.A244T|C3orf15_uc010hqz.3_Missense_Mutation_p.A182T|C3orf15_uc011bjd.2_Missense_Mutation_p.A118T|C3orf15_uc011bje.2_Missense_Mutation_p.A224T|C3orf15_uc010hra.2_Missense_Mutation_p.A5T NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA. 244 mitochondrion protein binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.186) GATAGAAAGAGCCCGCGAGAA 0.547000 9 3 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954770 30954770 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:30954770C>T uc003nsh.2 + 1 1069 c.818C>T c.(817-819)tCt>tTt p.S273F MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.S257F NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN Homo sapiens mucin 21, cell surface associated (MUC21), mRNA. 273 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 GCCACCAACTCTGAGTCCAGC 0.617000 143 19 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47836173 47836173 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:47836173C>T uc002zji.4 + 29 6448 c.6341C>T c.(6340-6342)tCc>tTc p.S2114F PCNT_uc002zjj.3_Missense_Mutation_p.S1996F NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 2114 G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AGTGATGATTCCTGTGACGGA 0.507000 39 4 0 0 1 0 0 NIPAL3 57185 broad.mit.edu 37 1 24768670 24768670 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:24768670C>T uc001bjh.3 + 3 695 c.288C>T c.(286-288)ttC>ttT p.F96F NIPAL3_uc010oek.2_Silent_p.F96F|NIPAL3_uc009vrc.3_Silent_p.F14F NM_020448 NP_065181 Q6P499 NPAL3_HUMAN Homo sapiens NIPA-like domain containing 3 (NIPAL3), mRNA. 96 integral to membrane p.A95A(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1) 14 CCTACGCCTTCGCGCCGCTGT 0.632000 105 25 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4741596 4741596 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:4741596C>T uc003bqc.3 + 33 4812 c.4462C>T c.(4462-4464)Ccc>Tcc p.P1488S ITPR1_uc021wsi.1_Missense_Mutation_p.P1494S|ITPR1_uc021wsj.1_Missense_Mutation_p.P1479S|ITPR1_uc011asu.2_Intron NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 1503 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CTTCAGCTCTCCCTTCTCAGA 0.438000 37 6 0 0 1 0 0 HNRNPC 3183 broad.mit.edu 37 14 21681206 21681206 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:21681206G>A uc001vzy.3 - 5 719 c.475C>T c.(475-477)Cag>Tag p.Q159* HNRNPC_uc001vzw.3_Nonsense_Mutation_p.Q146*|HNRNPC_uc001wad.3_Nonsense_Mutation_p.Q79*|HNRNPC_uc001vzx.3_Intron|HNRNPC_uc001vzz.3_Nonsense_Mutation_p.Q146*|HNRNPC_uc001waa.3_Nonsense_Mutation_p.Q159*|HNRNPC_uc010ail.3_Nonsense_Mutation_p.Q159*|HNRNPC_uc010tlq.2_Intron|HNRNPC_uc001wac.3_Intron|HNRNPC_uc010tlr.2_Nonsense_Mutation_p.Q24*|HNRNPC_uc001wae.3_Nonsense_Mutation_p.Q146* NM_031314 NP_112604 P07910 HNRPC_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C (C1/C2) (HNRNPC), transcript variant 1, mRNA. 159 catalytic step 2 spliceosome|nucleoplasm RNA binding|identical protein binding|nucleotide binding breast(1)|liver(1)|lung(6)|skin(1) 9 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) GATACACGCTGACGTTTCGAG 0.463000 29 4 0 0 1 0 0 PAPSS2 9060 broad.mit.edu 37 10 89503276 89503276 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:89503276G>A uc001kex.3 + 9 1617 c.1354G>A c.(1354-1356)Gat>Aat p.D452N PAPSS2_uc001kew.3_Missense_Mutation_p.D457N NM_004670 NP_004661 O95340 PAPS2_HUMAN Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 2 (PAPSS2), transcript variant 1, mRNA. 452 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol ATP binding|adenylylsulfate kinase activity|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) CAAGGATGACGATGTGCCTCT 0.602000 36 4 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42485724 42485724 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:42485724G>A uc002osh.3 - 10 1521 c.1367C>T c.(1366-1368)tCc>tTc p.S456F ATP1A3_uc010xwf.2_Missense_Mutation_p.S467F|ATP1A3_uc010xwg.2_Missense_Mutation_p.S426F|ATP1A3_uc002osg.3_Missense_Mutation_p.S456F|ATP1A3_uc010xwh.2_Missense_Mutation_p.S469F P13637 AT1A3_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA. 456 ATP biosynthetic process Golgi apparatus|endoplasmic reticulum ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 CAGCTTCACGGAGCCAGAGGA 0.552000 44 9 0 0 1 0 0 CACNG5 27091 broad.mit.edu 37 17 64875094 64875095 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:64875094_64875095GG>AA uc010wqi.2 + 2 438_439 c.201_202GG>AA c.(199-204)gaggag>gaAAag p.E68K CACNG5_uc010wqj.2_Missense_Mutation_p.E68K NM_145811 NP_665810 Q9UF02 CCG5_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA. 68 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) CCACAGGTGAGGAGCGGGGGCG 0.465000 83 8 0 0 1 0 0 SFTPD 6441 broad.mit.edu 37 10 81701193 81701193 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:81701193G>A uc001kbh.3 - 5 671 c.628C>T c.(628-630)Cct>Tct p.P210S NM_003019 NP_003010 P35247 SFTPD_HUMAN Homo sapiens surfactant protein D (SFTPD), mRNA. 210 Collagen-like. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) TTGTCTCCAGGAATGCCTTTG 0.617000 66 4 0 0 1 0 0 ATRN 8455 broad.mit.edu 37 20 3543884 3543884 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:3543884C>T uc002wim.2 + 9 1750 c.1660C>T c.(1660-1662)Cgt>Tgt p.R554C ATRN_uc002wil.2_Missense_Mutation_p.R554C|ATRN_uc021vzz.1_Missense_Mutation_p.R438C NM_139321 NP_647537 O75882 ATRN_HUMAN Homo sapiens attractin (ATRN), transcript variant 1, mRNA. 554 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 CCGATTTTTCCGTTACTTGCA 0.378000 44 10 0 0 1 0 0 CNOT3 4849 broad.mit.edu 37 19 54647226 54647226 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:54647226C>T uc002qdj.2 + 3 466 c.142C>T c.(142-144)Cta>Tta p.L48L CNOT3_uc010yel.2_Silent_p.L48L|CNOT3_uc002qdi.3_5'UTR|CNOT3_uc002qdk.2_Silent_p.L48L|CNOT3_uc010ere.2_5'Flank NM_014516 NP_055331 O75175 CNOT3_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA. 48 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TGAGGCTGACCTAAAGAAGGA 0.547000 58 12 0 0 1 0 0 VN1R10P 387316 broad.mit.edu 37 6 27293292 27293292 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:27293292C>T uc010jqt.3 + 0 753 c.231C>T c.(229-231)atC>atT p.I77I NM_032030 NP_114419 SubName: Full=FKSG83 protein; SubName: Full=FKSG83, isoform CRA_a; SubName: Full=FKSG83, isoform CRA_b; TTCACAGTATCAGTCTGTCTC 0.398000 131 17 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39688533 39688533 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:39688533G>A uc003oot.2 - 1 216 c.121C>T c.(121-123)Cca>Tca p.P41S KIF6_uc011dua.1_Missense_Mutation_p.P41S|KIF6_uc010jxb.1_Missense_Mutation_p.P41S NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN Homo sapiens kinesin family member 6 (KIF6), mRNA. 41 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 AAATCACGTGGTAAGATGATT 0.299000 51 4 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155561736 155561736 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:155561736G>A uc003qqb.3 + 17 4514 c.3241G>A c.(3241-3243)Gag>Aag p.E1081K TIAM2_uc003qqe.3_Missense_Mutation_p.E1081K|TIAM2_uc010kjj.3_Missense_Mutation_p.E614K|TIAM2_uc003qqf.3_Missense_Mutation_p.E457K|TIAM2_uc011efl.1_Missense_Mutation_p.E417K|TIAM2_uc003qqg.3_Missense_Mutation_p.E393K|TIAM2_uc003qqh.3_Missense_Mutation_p.E6K NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA. 1081 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGGACCGCGGGAGAATCAGGA 0.557000 57 6 0 0 1 0 0 OR2A12 346525 broad.mit.edu 37 7 143792596 143792596 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:143792596C>T uc011kty.2 + 0 396 c.396C>T c.(394-396)acC>acT p.T132T NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA. 132 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) TGCAATACACCCTCATTATGA 0.438000 71 7 0 0 1 0 0 MVD 4597 broad.mit.edu 37 16 88722522 88722522 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:88722522G>A uc002flg.1 - 4 601 c.594C>T c.(592-594)ctC>ctT p.L198L MVD_uc002flf.1_Silent_p.L67L NM_002461 NP_002452 P53602 MVD1_HUMAN Homo sapiens mevalonate (diphospho) decarboxylase (MVD), mRNA. 198 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|Hsp70 protein binding|diphosphomevalonate decarboxylase activity|kinase activity|protein homodimerization activity endometrium(3)|large_intestine(1)|lung(7)|ovary(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.0478) CCACAAGGATGAGCACGCGGA 0.677000 36 5 0 0 1 0 0 BRSK2 9024 broad.mit.edu 37 11 1466554 1466554 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:1466554G>A uc001ltm.3 + 9 1234 c.981G>A c.(979-981)caG>caA p.Q327Q BRSK2_uc009ycv.1_Silent_p.Q281Q|BRSK2_uc001lth.1_Silent_p.Q281Q|BRSK2_uc001lti.3_Silent_p.Q281Q|BRSK2_uc001ltl.3_Silent_p.Q281Q|BRSK2_uc001ltj.3_Silent_p.Q281Q|BRSK2_uc001ltk.3_Non-coding_Transcript|BRSK2_uc001ltn.3_Non-coding_Transcript|BRSK2_uc010qwx.2_Non-coding_Transcript NM_003957 NP_003948 Q8IWQ3 BRSK2_HUMAN Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA. 281 UBA. establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(1)|lung(5) 10 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) AACCAGAGCAGCCCATTCCTC 0.682000 27 7 0 0 1 0 0 ZNF232 7775 broad.mit.edu 37 17 5009145 5009145 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:5009145G>A uc002gat.3 - 4 1964 c.1309C>T c.(1309-1311)Cat>Tat p.H437Y ZNF232_uc002gar.1_Missense_Mutation_p.H428Y NM_014519 NP_055334 Q9UNY5 ZN232_HUMAN Homo sapiens zinc finger protein 232 (ZNF232), mRNA. 410 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 TTTCTGGCATGAACTCTCCGA 0.428000 125 9 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201046156 201046156 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:201046156G>A uc001gvv.3 - 11 1946 c.1719C>T c.(1717-1719)ttC>ttT p.F573F NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 573 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCAGGAGGGCGAAGATGACGA 0.567000 64 4 0 0 1 0 0 FUK 197258 broad.mit.edu 37 16 70497632 70497632 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:70497632C>T uc010cft.3 + 2 247 c.189C>T c.(187-189)gcC>gcT p.A63A FUK_uc010vmb.1_Silent_p.A63A|FUK_uc002eyy.3_Silent_p.A63A|FUK_uc002eyz.3_Intron NM_145059 NP_659496 Q8N0W3 FUK_HUMAN Homo sapiens fucokinase (FUK), mRNA. 63 cytoplasm ATP binding|fucokinase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) CCCTCAACGCCCTGCTGGTGG 0.652000 21 7 0 0 1 0 0 ZNF79 7633 broad.mit.edu 37 9 130206785 130206785 + Missense_Mutation SNP G A A rs148604589 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:130206785G>A uc004bqw.4 + 4 1220 c.806G>A c.(805-807)cGa>cAa p.R269Q ZNF79_uc011maf.2_Missense_Mutation_p.R245Q|ZNF79_uc011mag.2_Missense_Mutation_p.R245Q NM_007135 NP_009066 Q15937 ZNF79_HUMAN Homo sapiens zinc finger protein 79 (ZNF79), mRNA. 269 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 AAACACCAGCGAACCCACACC 0.522000 63 8 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133486454 133486454 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:133486454C>T uc002ttp.3 - 17 5889 c.5515G>A c.(5515-5517)Gaa>Aaa p.E1839K NCKAP5_uc002ttq.3_Missense_Mutation_p.E520K NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 1839 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 ATTGGGTCTTCAGCATATCCG 0.547000 114 9 0 0 1 0 0 CEP170 9859 broad.mit.edu 37 1 243328275 243328275 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:243328275G>A uc021plo.1 - 12 3395 c.2987C>T c.(2986-2988)tCc>tTc p.S996F CEP170_uc021plp.1_Missense_Mutation_p.S898F|CEP170_uc021plq.1_Missense_Mutation_p.S898F|CEP170_uc001hzv.1_Missense_Mutation_p.S374F NM_014812 NP_055627 Q5SW79 CE170_HUMAN Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA. 996 Targeting to microtubules. centriole|microtubule|spindle p.R995C(1) NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) CACATCTGTGGAACGACTTTT 0.403000 48 4 0 0 1 0 0 C2orf66 401027 broad.mit.edu 37 2 197672262 197672262 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:197672262G>A uc002utv.3 - 1 1148 c.259C>T c.(259-261)Cct>Tct p.P87S NM_213608 NP_998773 Q6UXQ4 CB066_HUMAN Homo sapiens chromosome 2 open reading frame 66 (C2orf66), mRNA. 87 extracellular region endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 AGAGGTCTAGGATTTTCATTC 0.393000 96 6 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65237848 65237848 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:65237848C>T uc001xht.3 - 26 5605 c.5554_splice c.e26-1 p.V1852_splice SPTB_uc001xhr.3_Splice_Site_p.V1852_splice|SPTB_uc001xhs.3_Splice_Site_p.V1852_splice|SPTB_uc001xhu.3_Splice_Site_p.V1852_splice|SPTB_uc010aqi.3_Splice_Site_p.V513_splice NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 1852 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) ACTGCTGCACCTGTGGTCAGG 0.607000 104 11 0 0 1 0 0 ESPN 83715 broad.mit.edu 37 1 6512052 6512052 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:6512052C>T uc001amy.3 + 9 2389 c.2221C>T c.(2221-2223)Ccc>Tcc p.P741S ESPN_uc001amz.3_Missense_Mutation_p.P175S NM_031475 NP_113663 B1AK53 ESPN_HUMAN Homo sapiens espin (ESPN), mRNA. 741 sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium SH3 domain binding|actin filament binding NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) GGCTCTCATCCCCACGCACGA 0.662000 17 3 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54952870 54952870 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:54952870C>T uc004dtq.3 + 7 1712 c.1605C>T c.(1603-1605)ctC>ctT p.L535L TRO_uc004dts.3_Silent_p.L535L|TRO_uc004dtr.3_Silent_p.L535L|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Non-coding_Transcript|TRO_uc004dtv.3_Silent_p.L138L|TRO_uc011mok.2_Silent_p.L66L|TRO_uc004dtw.3_Silent_p.L138L|TRO_uc004dtx.3_5'UTR|SNORA11_uc022bxj.1_5'Flank NM_001039705 NP_001034794 Q12816 TROP_HUMAN Homo sapiens trophinin (TRO), transcript variant 6, mRNA. 535 MAGE. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 AGCTGGGTCTCCTCATGGTGA 0.493000 10 4 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143093438 143093438 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:143093438G>A uc003qjd.3 - 4 3181 c.2438C>T c.(2437-2439)tCa>tTa p.S813L NM_006734 NP_006725 P31629 ZEP2_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA. 813 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CCTTTCAAATGAATTGGGTCG 0.498000 52 7 0 0 1 0 0 MGAT4A 11320 broad.mit.edu 37 2 99279639 99279639 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:99279639G>A uc002sze.3 - 4 721 c.407C>T c.(406-408)tCa>tTa p.S136L MGAT4A_uc010yvm.2_Missense_Mutation_p.S8L|MGAT4A_uc010fil.3_5'UTR|MGAT4A_uc010fim.1_Missense_Mutation_p.S8L NM_012214 NP_036346 Q9UM21 MGT4A_HUMAN Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A (MGAT4A), transcript variant 1, mRNA. 136 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|extracellular region|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 CATGACTATTGAAACTGGaaa 0.313000 89 5 0 0 1 0 0 HMGN1 3150 broad.mit.edu 37 21 40717139 40717139 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:40717139G>A uc002yxo.3 - 4 392 c.188C>T c.(187-189)gCc>gTc p.A63V HMGN1_uc021wjh.1_Non-coding_Transcript NM_004965 NP_004956 P05114 HMGN1_HUMAN Homo sapiens high mobility group nucleosome binding domain 1 (HMGN1), mRNA. 63 positive regulation of transcription elongation, DNA-dependent chromatin|cytoplasm|nucleus DNA binding breast(2)|lung(1) 3 Prostate(19;8.69e-07) AGCCACTTCGGCCTGTTTTCC 0.403000 16 3 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 860808 860808 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:860808G>A uc003gbm.4 - 20 3007 c.2808C>T c.(2806-2808)ctC>ctT p.L936L GAK_uc003gbn.4_Silent_p.L857L|GAK_uc010ibk.1_Silent_p.L830L|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Silent_p.L800L NM_005255 NP_005246 O14976 GAK_HUMAN Homo sapiens cyclin G associated kinase (GAK), mRNA. 936 cell cycle Golgi apparatus|focal adhesion|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) GGCTTGCCAGGAGCAGCGGGT 0.697000 53 6 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088167 86088168 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:86088167_86088168CC>TT uc021rxf.1 + 0 309_310 c.309_310CC>TT c.(307-312)ttcccc>ttTTcc p.P104S FLRT2_uc001xvr.3_Missense_Mutation_p.P104S|FLRT2_uc010atd.3_Missense_Mutation_p.P104S NM_013231 NP_037363 O43155 FLRT2_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA. 104 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity p.P104S(2) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TGGACGAATTCCCCATGAACCT 0.460000 67 9 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55350983 55350983 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55350983G>A uc002qhm.1 + 4 515 c.469G>A c.(469-471)Gag>Aag p.E157K KIR3DL2_uc010yfj.2_Silent_p.G150G|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Silent_p.G157G|KIR3DL2_uc002qhn.1_Intron NM_012314 NP_036446 P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA. 260 Ig-like C2-type 2. cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) CAGGGAAGGGGAGGCCCATGA 0.597000 153 6 0 0 1 0 0 ITGB1BP1 9270 broad.mit.edu 37 2 9558820 9558820 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:9558820G>A uc002qzj.3 - 1 184 c.7C>T c.(7-9)Cgc>Tgc p.R3C ITGB1BP1_uc002qzm.3_Non-coding_Transcript|ITGB1BP1_uc002qzk.3_Missense_Mutation_p.R3C|ITGB1BP1_uc002qzl.3_Non-coding_Transcript|ITGB1BP1_uc010yiy.2_Intron|ITGB1BP1_uc002qzn.1_Missense_Mutation_p.R3C NM_004763 NP_004754 O14713 ITBP1_HUMAN Homo sapiens integrin beta 1 binding protein 1 (ITGB1BP1), transcript variant 1, mRNA. 3 cell migration|cell-matrix adhesion|intracellular protein kinase cascade cytosol|lamellipodium|membrane|ruffle protein binding kidney(2)|large_intestine(2)|lung(2)|prostate(2) 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.23) TTGCCCTTGCGAAACATTTTT 0.373000 151 27 0 0 1 0 0 KIF11 3832 broad.mit.edu 37 10 94396969 94396969 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:94396969C>T uc001kic.3 + 14 2212 c.1904C>T c.(1903-1905)tCa>tTa p.S635L NM_004523 NP_004514 P52732 KIF11_HUMAN Homo sapiens kinesin family member 11 (KIF11), mRNA. 635 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTTCTAAGTTCACTGGAAATG 0.323000 277 39 0 0 1 0 0 SGK2 10110 broad.mit.edu 37 20 42204950 42204950 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:42204950C>T uc002xkv.3 + 9 1179 c.960C>T c.(958-960)gcC>gcT p.A320A SGK2_uc002xkr.3_Silent_p.A260A|SGK2_uc010ggm.3_Silent_p.A260A|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Silent_p.A260A NM_016276 NP_733794 Q9HBY8 SGK2_HUMAN Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA. 320 Protein kinase. intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GGACAGTGGCCGCCTGTGACC 0.607000 72 5 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153665653 153665653 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:153665653C>T uc001fcs.4 + 20 3524 c.3103C>T c.(3103-3105)Cga>Tga p.R1035* NPR1_uc010pdz.2_Nonsense_Mutation_p.R781*|NPR1_uc010pea.2_Nonsense_Mutation_p.R513* NM_000906 NP_000897 P16066 ANPRA_HUMAN Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA. 1035 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GCTGGAGCTTCGAGGGGATGT 0.562000 66 14 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31896664 31896664 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31896664G>A uc003nyf.3 + 2 676 c.412G>A c.(412-414)Gat>Aat p.D138N CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.D138N|CFB_uc010jtk.3_Intron|CFB_uc011doq.2_Missense_Mutation_p.D109N|CFB_uc011dor.2_Intron NM_000063 NP_000054 P00751 CFAB_HUMAN Homo sapiens complement component 2 (C2), transcript variant 1, mRNA. 152 Sushi 2. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CGGCATGTGGGATGGAGAAAC 0.607000 239 32 0 0 1 0 0 NARF 26502 broad.mit.edu 37 17 80445839 80445839 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:80445839G>A uc010dit.3 + 12 1452 c.1312G>A c.(1312-1314)Gat>Aat p.D438N NARF_uc002kff.4_Missense_Mutation_p.D334N|NARF_uc002kfg.4_Missense_Mutation_p.D393N|NARF_uc002kfj.4_Missense_Mutation_p.D345N NM_031968 NP_114174 Q9UHQ1 NARF_HUMAN Homo sapiens nuclear prelamin A recognition factor (NARF), transcript variant 2, mRNA. 393 lamin filament lamin binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) CGGACATGCGGATAAGGCCCT 0.562000 66 19 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88769359 88769359 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:88769359C>T uc001kee.2 + 11 2554 c.1350C>T c.(1348-1350)tcC>tcT p.S450S AGAP11_uc001kef.3_Intron NM_133447 NP_597704 Q8TF27 AGA11_HUMAN Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA. 450 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CTGAGCTGTCCCTGGGCCAGC 0.592000 140 13 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81536943 81536943 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:81536943G>A uc001szl.1 + 4 929 c.838G>A c.(838-840)Gcc>Acc p.A280T ACSS3_uc001szm.1_Missense_Mutation_p.A279T NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA. 280 mitochondrion ATP binding|acetate-CoA ligase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GATGGCAAAAGCCCAGTCACA 0.443000 28 4 0 0 1 0 0 UNG 7374 broad.mit.edu 37 12 109540670 109540670 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:109540670C>T uc001tnz.2 + 4 646 c.560C>T c.(559-561)tCt>tTt p.S187F UNG_uc001toa.2_Missense_Mutation_p.S178F NM_080911 NP_550433 P13051 UNG_HUMAN Homo sapiens uracil-DNA glycosylase (UNG), transcript variant 2, mRNA. 187 base-excision repair|interspecies interaction between organisms mitochondrion|nucleus protein binding|uracil DNA N-glycosylase activity p.H186Y(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 AAAGAGTTGTCTACAGACATA 0.363000 Base excision repair (BER), DNA glycosylases Immune Deficiency with Hyper-IgM 59 5 0 0 1 0 0 KBTBD8 84541 broad.mit.edu 37 3 67054611 67054611 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:67054611C>T uc003dmy.3 + 2 1273 c.1220C>T c.(1219-1221)tCa>tTa p.S407L KBTBD8_uc011bfv.2_Intron NM_032505 NP_115894 Q8NFY9 KBTB8_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA. 407 breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) GGGAGAAACTCACTAAAATCT 0.438000 59 6 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49059569 49059569 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:49059569G>A uc001zwz.3 - 15 2303 c.2110C>T c.(2110-2112)Ctc>Ttc p.L704F CEP152_uc001zwy.3_Missense_Mutation_p.L704F|CEP152_uc001zxa.2_Missense_Mutation_p.L611F NM_001194998 NP_001181927 O94986 CE152_HUMAN Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA. 704 G2/M transition of mitotic cell cycle|centrosome duplication centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GCCTCAAAGAGCTGCTGCTTC 0.413000 28 5 0 0 1 0 0 GOLGA1 2800 broad.mit.edu 37 9 127683504 127683504 + Silent SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:127683504A>T uc004bpc.3 - 9 1089 c.747T>A c.(745-747)gcT>gcA p.A249A GOLGA1_uc010mws.3_Non-coding_Transcript|GOLGA1_uc010mwt.1_Silent_p.A224A NM_002077 NP_002068 Q92805 GOGA1_HUMAN Homo sapiens golgin A1 (GOLGA1), mRNA. 249 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 CTGTTTTTGAAGCTATCACAT 0.373000 85 5 0 0 1 0 0 TMEM105 284186 broad.mit.edu 37 17 79287742 79287742 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:79287742G>A uc002kad.2 - 2 649 c.99C>T c.(97-99)ctC>ctT p.L33L NM_178520 NP_848615 Q8N8V8 TM105_HUMAN Homo sapiens transmembrane protein 105 (TMEM105), mRNA. 33 integral to membrane NS(1)|large_intestine(3)|lung(1)|ovary(2) 7 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892) ACCAGGTAAGGAGATAAATCA 0.587000 76 23 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13338323 13338323 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:13338323C>T uc002mwy.3 - 36 5783 c.5547G>A c.(5545-5547)ctG>ctA p.L1849L CACNA1A_uc002mwx.3_Silent_p.L555L|CACNA1A_uc010dzc.2_Intron|CACNA1A_uc010xnd.2_Silent_p.L1852L|CACNA1A_uc021ups.1_Silent_p.L1849L|CACNA1A_uc010xne.2_Silent_p.L1852L|CACNA1A_uc010dze.2_Intron|CACNA1A_uc021upt.1_Intron|CACNA1A_uc002mwv.3_Intron NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 1850 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GATACATGTCCAGGTAAGGCA 0.498000 79 8 0 0 1 0 0 ICAM2 3384 broad.mit.edu 37 17 62082516 62082516 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:62082516G>A uc002jdu.4 - 1 511 c.279C>T c.(277-279)ttC>ttT p.F93F ICAM2_uc002jdw.4_Silent_p.F93F|ICAM2_uc010ded.3_Silent_p.F93F|ICAM2_uc002jdx.4_Silent_p.F93F|ICAM2_uc002jdv.4_Silent_p.F93F|ICAM2_uc010wpx.1_Silent_p.F93F NM_000873 NP_001093259 P13598 ICAM2_HUMAN Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA. 93 Ig-like C2-type 1. cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding large_intestine(1)|lung(2)|ovary(1)|skin(2) 6 CGGAGCAGGTGAAGTGGCATT 0.552000 49 5 0 0 1 0 0 LINS 55180 broad.mit.edu 37 15 101114268 101114268 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:101114268G>A uc002bwg.3 - 4 1033 c.810C>T c.(808-810)ttC>ttT p.F270F LINS_uc002bwd.3_5'Flank|LINS_uc010usa.2_Silent_p.F151F|LINS_uc002bwi.3_Silent_p.F270F NM_001040616 NP_001035706 Q8NG48 LINES_HUMAN Homo sapiens lines homolog (Drosophila) (LINS), transcript variant 6, mRNA. 270 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 TCTGGCAAGTGAAATGTAACT 0.393000 24 6 0 0 1 0 0 ATP2A3 489 broad.mit.edu 37 17 3846791 3846791 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:3846791C>T uc002fwy.2 - 10 1486 c.1313G>A c.(1312-1314)gGa>gAa p.G438E ATP2A3_uc002fwz.2_Missense_Mutation_p.G438E|ATP2A3_uc002fxa.2_Missense_Mutation_p.G438E|ATP2A3_uc002fxb.2_Missense_Mutation_p.G438E|ATP2A3_uc002fxc.2_Missense_Mutation_p.G438E|ATP2A3_uc002fxd.2_Missense_Mutation_p.G438E|ATP2A3_uc002fwx.2_Missense_Mutation_p.G438E NM_174953 NP_777613 Q93084 AT2A3_HUMAN Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA. 438 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) CGTGGCCTCTCCCACCTTCTC 0.637000 112 8 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152529286 152529286 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:152529286G>A uc021zhb.1 - 122 22868 c.22645C>T c.(22645-22647)Cgc>Tgc p.R7549C SYNE1_uc003qos.4_Missense_Mutation_p.R2073C|SYNE1_uc003qot.4_Missense_Mutation_p.R7478C|SYNE1_uc003qou.4_Missense_Mutation_p.R7549C|SYNE1_uc003qor.4_Missense_Mutation_p.R449C NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 7549 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGGGCCCTGCGAATCACTCCC 0.468000 HNSCC(10;0.0054) 41 4 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9484673 9484673 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:9484673C>T uc002qzh.2 + 9 1202 c.862C>T c.(862-864)Cgt>Tgt p.R288C ASAP2_uc002qzi.2_Missense_Mutation_p.R288C NM_003887 NP_003878 O43150 ASAP2_HUMAN Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA. 288 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 CTCCCAAATTCGTCAGAGCAC 0.443000 47 4 0 0 1 0 0 PGA5 5222 broad.mit.edu 37 11 61018652 61018652 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:61018652G>A uc001nqz.3 + 8 1121 c.1066G>A c.(1066-1068)Gaa>Aaa p.E356K NM_014224 NP_055039 P00790 PEPA_HUMAN Homo sapiens pepsinogen 5, group I (pepsinogen A) (PGA5), mRNA. 356 digestion|proteolysis extracellular region aspartic-type endopeptidase activity large_intestine(1)|skin(1) 2 CGTCCCCACCGAATCTGGAGA 0.557000 175 15 0 0 1 0 0 FAM45A 404636 broad.mit.edu 37 X 129629498 129629498 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:129629498G>A uc010nrh.3 + 0 584 c.366G>A c.(364-366)atG>atA p.M122I BC043223_uc004evu.3_Intron NM_207009 NP_996892 Q8TCE6 FA45A_HUMAN Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA. 122 breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 14 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) CAGTTAAAATGATGGAGAGTT 0.443000 62 9 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145379844 145379844 + Missense_Mutation SNP G A A rs35453884 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:145379844G>A uc003lnt.3 + 2 840 c.602G>A c.(601-603)cGa>cAa p.R201Q SH3RF2_uc011dbl.1_Missense_Mutation_p.R201Q NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA. 201 SH3 2. ligase activity|protein phosphatase 1 binding|zinc ion binding p.R201*(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCGACCTACGAGGCAAGGAC 0.592000 23 5 0 0 1 0 0 ZNF408 79797 broad.mit.edu 37 11 46723068 46723068 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:46723068C>T uc001nde.2 + 1 453 c.172C>T c.(172-174)Ccc>Tcc p.P58S ARHGAP1_uc001ndd.3_5'Flank|ARHGAP1_uc009yle.1_5'Flank|ARHGAP1_uc009ylf.1_5'Flank|ZNF408_uc010rgw.2_Missense_Mutation_p.P50S NM_024741 NP_079017 Q9H9D4 ZN408_HUMAN Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA. 58 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AAAGAGCCTTCCCCGGGGCTT 0.667000 77 7 0 0 1 0 0 R3HDM2 22864 broad.mit.edu 37 12 57651864 57651864 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:57651864G>A uc009zpm.1 - 18 2351 c.2316C>T c.(2314-2316)ccC>ccT p.P772P R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Silent_p.P467P|R3HDM2_uc001snr.2_Silent_p.P499P|R3HDM2_uc001sns.2_Silent_p.P772P|R3HDM2_uc001snt.2_Silent_p.P786P NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN Homo sapiens R3H domain containing 2 (R3HDM2), mRNA. 772 nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 TGACAGGAGAGGGTGCTGGAG 0.577000 20 4 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139793202 139793202 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:139793202G>A uc003yvd.3 - 12 2065 c.1618C>T c.(1618-1620)Ccc>Tcc p.P540S NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 540 Collagen-like 2.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTCCCAGGGGGGCCGGGCAGG 0.532000 HNSCC(7;0.00092) 113 9 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 8995744 8995744 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:8995744G>A uc001quz.4 + 11 1361 c.1263G>A c.(1261-1263)atG>atA p.M421I A2ML1_uc001qva.1_Missense_Mutation_p.M1I|A2ML1_uc010sgm.2_5'Flank NM_144670 NP_653271 B3KVV6 B3KVV6_HUMAN Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA. 265 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 AGTTTCAAATGGAAGACTTAG 0.453000 68 5 0 0 1 0 0 PNKP 11284 broad.mit.edu 37 19 50370400 50370400 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:50370400G>A uc002pqj.3 - 1 172 c.62C>T c.(61-63)cCc>cTc p.P21L PNKP_uc002pqg.3_5'Flank|PNKP_uc002pqi.3_5'UTR|PNKP_uc021uxx.1_Missense_Mutation_p.P21L NM_007254 NP_009185 Q96T60 PNKP_HUMAN Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA. 21 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) CAGGAAGATGGGGGGCGCTCC 0.711000 Other BER factors 41 11 0 0 1 0 0 RUFY3 22902 broad.mit.edu 37 4 71630223 71630223 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:71630223C>T uc003hfr.3 + 3 1097 c.502C>T c.(502-504)Cgt>Tgt p.R168C RUFY3_uc003hfp.4_Missense_Mutation_p.R228C|RUFY3_uc003hfq.3_Missense_Mutation_p.R168C|RUFY3_uc011cax.2_Missense_Mutation_p.R186C|RUFY3_uc011cay.2_Missense_Mutation_p.R104C NM_001037442 NP_001032519 Q7L099 RUFY3_HUMAN Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA. 168 RUN. negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) AGCCTGGCTTCGTTTGGCATT 0.368000 74 6 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5461798 5461798 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:5461798C>T uc002gci.3 - 3 2773 c.2218G>A c.(2218-2220)Gaa>Aaa p.E740K NLRP1_uc002gcg.1_Missense_Mutation_p.E740K|NLRP1_uc002gch.4_Missense_Mutation_p.E740K|NLRP1_uc002gck.3_Missense_Mutation_p.E740K|NLRP1_uc002gcj.3_Missense_Mutation_p.E740K|NLRP1_uc002gcl.3_Missense_Mutation_p.E740K|NLRP1_uc010clh.3_Missense_Mutation_p.E740K NM_033004 NP_127497 Q9C000 NALP1_HUMAN Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA. 740 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide NALP1 inflammasome complex|cytoplasm|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding p.E739K(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) ATGCCCATTTCTTCGAAATGG 0.512000 85 9 0 0 1 0 0 ITGA9 3680 broad.mit.edu 37 3 37514927 37514927 + Silent SNP G A A rs5848002 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:37514927G>A uc003chd.3 + 2 449 c.396G>A c.(394-396)caG>caA p.Q132Q ITGA9_uc003chc.3_Silent_p.Q132Q NM_002207 NP_002198 Q13797 ITA9_HUMAN Homo sapiens integrin, alpha 9 (ITGA9), mRNA. 132 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) TGGCCCGACAGCCCAAGGCTG 0.602000 37 5 0 0 1 0 0 SPANXC 64663 broad.mit.edu 37 X 140335726 140335726 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:140335726C>T uc004fbk.3 - 1 274 c.218G>A c.(217-219)cGa>cAa p.R73Q SPANXC_uc004fbl.3_Non-coding_Transcript NM_022661 NP_073152 Q9NY87 SPNXC_HUMAN Homo sapiens SPANX family, member C (SPANXC), mRNA. 73 cytoplasm|nucleus p.R73R(1) large_intestine(2)|lung(3)|pancreas(1) 6 Acute lymphoblastic leukemia(192;7.65e-05) TCTGTTCTCTCGGGCGTGGTC 0.443000 71 4 0 0 1 0 0 NR3C1 2908 broad.mit.edu 37 5 142779583 142779583 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:142779583G>A uc003lnd.3 - 1 1816 c.822C>T c.(820-822)ccC>ccT p.P274P NR3C1_uc003lmy.3_Silent_p.P274P|NR3C1_uc003lmz.3_5'UTR|NR3C1_uc003lna.3_Silent_p.P274P|NR3C1_uc003lnb.3_Silent_p.P274P|NR3C1_uc011dbk.2_Intron|NR3C1_uc003lnf.3_Silent_p.P274P|NR3C1_uc003lne.3_Silent_p.P274P|NR3C1_uc003lnc.3_Silent_p.P274P|NR3C1_uc021yfa.1_Silent_p.P274P|NR3C1_uc021yfb.1_Silent_p.P274P|NR3C1_uc003lng.2_Silent_p.P274P|NR3C1_uc003lni.2_Silent_p.P274P NM_001018077 NP_001191193 P04150 GCR_HUMAN Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA. 274 Modulating. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) TTTTCACTTGGGGCAGTGTTA 0.443000 79 15 0 0 1 0 0 LGALS12 85329 broad.mit.edu 37 11 63276445 63276445 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:63276445C>T uc001nxc.2 + 2 764 c.423C>T c.(421-423)ttC>ttT p.F141F LGALS12_uc001nxa.2_Silent_p.F140F|LGALS12_uc001nxb.2_Silent_p.F140F|LGALS12_uc001nxd.2_Silent_p.F79F|LGALS12_uc001nxe.2_Silent_p.F79F|LGALS12_uc009yot.2_Silent_p.F100F NM_001142535 NP_001136007 Q96DT0 LEG12_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA. 140 Galectin 1. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 TCTTTCTCTTCGGGAATGAGG 0.597000 25 8 0 0 1 0 0 KCNC1 3746 broad.mit.edu 37 11 17757680 17757680 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:17757680G>A uc009yhc.1 + 0 186 c.131G>A c.(130-132)aGc>aAc p.S44N KCNC1_uc001mnk.4_Missense_Mutation_p.S44N NM_001112741 NP_001106212 P48547 KCNC1_HUMAN Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA. 44 voltage-gated potassium channel complex voltage-gated potassium channel activity p.H43P(1) breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 GACGCCCACAGCCACTTCGAC 0.687000 28 4 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61568713 61568713 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:61568713C>T uc002jau.2 + 18 2917 c.2883C>T c.(2881-2883)gcC>gcT p.A961A ACE_uc010wpj.2_Silent_p.A387A|ACE_uc010ddv.2_Silent_p.A188A|ACE_uc002jav.2_Silent_p.A387A|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Silent_p.A207A NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 961 Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) ACGCCTCGGCCTGGGACTTCT 0.622000 86 10 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36779044 36779044 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:36779044G>A uc003cgi.2 - 1 1598 c.1107C>T c.(1105-1107)gtC>gtT p.V369V NM_033403 NP_208382 Q9C098 DCLK3_HUMAN Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA. 369 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.V369V(2) breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 ACTCCTTCACGACAGCAAAGT 0.572000 36 4 0 0 1 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74957790 74957790 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:74957790C>A uc001dge.2 + 24 2561 c.2494C>A c.(2494-2496)Cct>Act p.P832T FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.P731T NM_001112808 NP_001106279 Q59H18 TNI3K_HUMAN Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA. 731 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding GCTGATGTCTCCTGCATCAAG 0.453000 66 14 4.7546e-09 4.81843e-09 1 1 0 OR1S1 219959 broad.mit.edu 37 11 57982297 57982297 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:57982297C>T uc010rkc.2 + 0 81 c.81C>T c.(79-81)ctC>ctT p.L27L NM_001004458 NP_001004458 Q8NH92 OR1S1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA. 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) AATTCATTCTCCTGGGATTTT 0.418000 26 4 0 0 1 0 0 CLASP1 23332 broad.mit.edu 37 2 122176207 122176207 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:122176207G>A uc002tnc.3 - 22 2701 c.2311C>T c.(2311-2313)Cct>Tct p.P771S CLASP1_uc002tmz.3_5'UTR|CLASP1_uc002tna.3_Intron|CLASP1_uc010yyw.2_Intron|CLASP1_uc002tnb.3_Intron|CLASP1_uc010yyx.2_Intron|CLASP1_uc010yyy.2_Intron|CLASP1_uc010yyz.2_Intron|CLASP1_uc010yza.2_Intron|CLASP1_uc021vnl.1_Intron|CLASP1_uc010yzc.2_Intron|CLASP1_uc002tng.1_Intron NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA. 771 Interaction with microtubules, MAPRE1 and MAPRE3. G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) CCAAGTGGAGGAAAGCCCCGA 0.597000 62 9 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77708372 77708372 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:77708372C>T uc003ugx.3 - 20 3852 c.3598G>A c.(3598-3600)Gaa>Aaa p.E1200K MAGI2_uc003ugy.3_Missense_Mutation_p.E1186K|MAGI2_uc010ldx.1_Missense_Mutation_p.E793K NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA. 1200 PDZ 6. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CTTGTGCTTTCCCCATTGATT 0.428000 107 8 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103997 53103997 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:53103997G>A uc003tpz.3 + 0 649 c.633G>A c.(631-633)caG>caA p.Q211Q NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 211 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GGAACCTGCAGCCCCGGCCCT 0.672000 76 16 0 0 1 0 0 CCDC91 55297 broad.mit.edu 37 12 28605449 28605449 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:28605449C>T uc001riq.3 + 9 977 c.963C>T c.(961-963)gtC>gtT p.V321V CCDC91_uc001rio.3_Silent_p.V291V|CCDC91_uc009zjk.3_Non-coding_Transcript|CCDC91_uc001rip.1_Silent_p.V321V|CCDC91_uc009zjl.3_Silent_p.V123V NM_018318 NP_060788 Q7Z6B0 CCD91_HUMAN Homo sapiens coiled-coil domain containing 91 (CCDC91), mRNA. 321 Homodimerization. protein transport Golgi apparatus|membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1) 22 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) TTTTAAAAGTCGTAGAAGAAG 0.313000 24 7 0 0 1 0 0 ENO2 2026 broad.mit.edu 37 12 7026767 7026767 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:7026767C>T uc001qru.1 + 5 555 c.333C>T c.(331-333)atC>atT p.I111I ENO2_uc009zfi.1_Silent_p.I111I|ENO2_uc010sfq.1_Silent_p.I68I|ENO2_uc001qrv.1_Silent_p.I111I NM_001975 NP_001966 P09104 ENOG_HUMAN Homo sapiens enolase 2 (gamma, neuronal) (ENO2), mRNA. 111 gluconeogenesis|glycolysis phosphopyruvate hydratase complex|plasma membrane magnesium ion binding|phosphopyruvate hydratase activity endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 CCAATGCCATCCTGGGTGTGT 0.572000 94 19 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 2908473 2908473 + Silent SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:2908473C>A uc003bpc.3 + 7 831 c.492C>A c.(490-492)tcC>tcA p.S164S CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Silent_p.S164S|CNTN4_uc003bpd.1_Silent_p.S164S NM_175607 NP_783302 Q8IWV2 CNTN4_HUMAN Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. 164 Ig-like C2-type 2. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AATACCCTTCCTATCAGGATA 0.378000 28 7 2.17888e-05 2.20395e-05 1 1 0 SIX2 10736 broad.mit.edu 37 2 45233511 45233511 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:45233511G>A uc002ruo.3 - 1 967 c.674C>T c.(673-675)tCa>tTa p.S225L NM_016932 NP_058628 Q9NPC8 SIX2_HUMAN Homo sapiens SIX homeobox 2 (SIX2), mRNA. 225 nucleus sequence-specific DNA binding transcription factor activity endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GCTGGATGATGAGTGGTCTGG 0.667000 120 16 0 0 1 0 0 SEPT6 23157 broad.mit.edu 37 X 118783993 118783993 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:118783993G>A uc004erv.3 - 4 862 c.597C>T c.(595-597)atC>atT p.I199I SEPT6_uc010nqk.3_Non-coding_Transcript|SEPT6_uc004ers.3_Silent_p.I199I|SEPT6_uc004ert.3_Silent_p.I199I|SEPT6_uc004eru.3_Silent_p.I199I|SEPT6_uc004erw.3_Silent_p.I141I|SEPT6_uc011mtv.1_Silent_p.I141I|SEPT6_uc011mtw.1_Silent_p.I229I NM_015129 NP_055944 Q14141 SEPT6_HUMAN Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA. 199 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 TGGTGATTTTGATTTTGAACT 0.478000 T MLL AML 60 27 0 0 1 0 0 OR7G2 390882 broad.mit.edu 37 19 9213734 9213734 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9213734G>A uc010xkk.2 - 0 249 c.249C>T c.(247-249)ttC>ttT p.F83F NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 GATTGGAGAGGAAGAAGTACA 0.502000 85 12 0 0 1 0 0 SPNS3 201305 broad.mit.edu 37 17 4356465 4356465 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:4356465C>T uc002fxt.3 + 7 1122 c.1078C>T c.(1078-1080)Ctc>Ttc p.L360F SPNS3_uc002fxu.3_Missense_Mutation_p.L233F NM_182538 NP_872344 Q6ZMD2 SPNS3_HUMAN Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA. 360 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 CTACCTGGCTCTCGTCCTGGC 0.627000 135 10 0 0 1 0 0 GPATCH2 55105 broad.mit.edu 37 1 217688185 217688185 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:217688185G>A uc001hlf.1 - 5 1241 c.1145C>T c.(1144-1146)tCc>tTc p.S382F NM_018040 NP_060510 Q9NW75 GPTC2_HUMAN Homo sapiens G patch domain containing 2 (GPATCH2), mRNA. 382 intracellular nucleic acid binding NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1) 35 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) AGAATCCGGGGAAAAATGAAC 0.358000 16 4 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189855766 189855766 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:189855766G>A uc002uqj.1 + 10 952 c.835G>A c.(835-837)Ggt>Agt p.G279S COL3A1_uc010frw.1_5'Flank NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 279 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGGTGAAACAGGTGCTCCTGG 0.289000 21 3 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76471438 76471438 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:76471438G>A uc010dhp.2 - 53 8558 c.8433C>T c.(8431-8433)tcC>tcT p.S2811S DNAH17_uc002jvs.3_5'Flank NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CTGCCAGGCGGGAGAGGCTCT 0.602000 86 19 0 0 1 0 0 NFAM1 150372 broad.mit.edu 37 22 42782999 42782999 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:42782999G>A uc003bcn.4 - 4 787 c.749C>T c.(748-750)tCc>tTc p.S250F NM_145912 NP_666017 Q8NET5 NFAM1_HUMAN Homo sapiens NFAT activating protein with ITAM motif 1 (NFAM1), mRNA. 250 B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity integral to membrane|intracellular|plasma membrane transmembrane receptor activity large_intestine(1)|lung(3) 4 GTGTACCTGGGAGAGGGGGCT 0.627000 108 11 0 0 1 0 0 DAND5 199699 broad.mit.edu 37 19 13084260 13084260 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:13084260C>T uc002mwc.1 + 1 533 c.382C>T c.(382-384)Cat>Tat p.H128Y DAND5_uc010dyz.1_3'UTR NM_152654 NP_689867 Q8N907 DAND5_HUMAN Homo sapiens DAN domain family, member 5 (DAND5), mRNA. 128 CTCK. extracellular region kidney(2)|lung(3)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(19;1.87e-18) GTGCTTTGGTCATTGCTCCTC 0.627000 95 12 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31918460 31918460 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31918460G>A uc003nyj.4 + 12 1967 c.1689G>A c.(1687-1689)ggG>ggA p.G563G CFB_uc011dor.2_Silent_p.G1065G NM_001710 NP_001701 P00751 CFAB_HUMAN Homo sapiens complement factor B (CFB), mRNA. 563 Peptidase S1. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 ACATTAATGGGAAAAAAGAAG 0.458000 328 18 0 0 1 0 0 RECQL5 9400 broad.mit.edu 37 17 73625320 73625320 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:73625320G>A uc010dgl.3 - 15 2392 c.2183C>T c.(2182-2184)cCt>cTt p.P728L RECQL5_uc010dgk.3_Missense_Mutation_p.P701L|RECQL5_uc002jot.4_5'Flank NM_004259 NP_004250 O94762 RECQ5_HUMAN Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA. 728 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CTTCTTCTCAGGGGAGGGCCC 0.652000 Other identified genes with known or suspected DNA repair function 38 6 0 0 1 0 0 OR52N2 390077 broad.mit.edu 37 11 5842231 5842231 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:5842231G>A uc010qzp.2 + 0 666 c.666G>A c.(664-666)atG>atA p.M222I TRIM5_uc001mbq.1_Intron NM_001005174 NP_001005174 Q8NGI0 O52N2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA. 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTACACTATGATTTTGCAGG 0.433000 35 5 0 0 1 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58187717 58187717 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:58187717C>T uc002qpu.3 + 2 901 c.204C>T c.(202-204)atC>atT p.I68I NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA. 68 SCAN box. telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTTATAGGATCTTTCACTCAT 0.398000 29 4 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30955002 30955002 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:30955002C>T uc003nsh.2 + 1 1301 c.1050C>T c.(1048-1050)tcC>tcT p.S350S MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Silent_p.S334S NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN Homo sapiens mucin 21, cell surface associated (MUC21), mRNA. 350 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 ACTCTGAGTCCAGCACAACCT 0.622000 153 7 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38798221 38798221 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:38798221C>T uc003ciq.3 - 8 1234 c.1234G>A c.(1234-1236)Gaa>Aaa p.E412K NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 412 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCCTTTGCTTCAATTTCATCA 0.507000 76 7 0 0 1 0 0 POU6F1 5463 broad.mit.edu 37 12 51584128 51584128 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:51584128C>T uc001rxy.3 - 4 1000 c.808G>A c.(808-810)Gag>Aag p.E270K POU6F1_uc001rxz.3_Missense_Mutation_p.E270K|POU6F1_uc001rya.3_Missense_Mutation_p.E270K NM_002702 NP_002693 Q14863 PO6F1_HUMAN Homo sapiens POU class 6 homeobox 1 (POU6F1), transcript variant 1, mRNA. 270 brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 TAGTTGAGCTCCTTAGCAATT 0.557000 111 6 0 0 1 0 0 GRK5 2869 broad.mit.edu 37 10 121182770 121182770 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:121182770C>T uc001led.3 + 4 665 c.432C>T c.(430-432)gcC>gcT p.A144A GRK5_uc009xzh.3_Silent_p.A39A|GRK5_uc010qta.1_Silent_p.A39A NM_005308 NP_005299 P34947 GRK5_HUMAN Homo sapiens G protein-coupled receptor kinase 5 (GRK5), mRNA. 144 N-terminal.|RGS. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) TCTTTTCTGCCTGTGCACAGT 0.582000 85 8 0 0 1 0 0 CDH26 60437 broad.mit.edu 37 20 58564129 58564129 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:58564129C>T uc002ybe.3 + 8 1505 c.1194C>T c.(1192-1194)ccC>ccT p.P398P CDH26_uc002ybf.1_5'UTR|CDH26_uc010zzy.2_Non-coding_Transcript NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA. 398 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) CCTTTCACCCCCAGAGCTTCA 0.562000 263 29 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30348964 30348964 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:30348964C>T uc002hgu.3 + 0 810 c.799C>T c.(799-801)Caa>Taa p.Q267* LRRC37B_uc010wbx.2_Nonsense_Mutation_p.Q185*|LRRC37B_uc010csu.3_Nonsense_Mutation_p.Q267* NM_052888 NP_443120 Q96QE4 LR37B_HUMAN Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA. 267 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) GCCCAAAAGTCAAAATCCAGA 0.547000 99 20 0 0 1 0 0 C2orf89 129293 broad.mit.edu 37 2 85097370 85097370 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:85097370C>T uc010ysl.2 - 1 737 c.648G>A c.(646-648)ttG>ttA p.L216L C2orf89_uc002sou.4_Silent_p.L216L|C2orf89_uc010fgc.2_Silent_p.L216L NM_001080824 NP_001074293 Q86V40 CB089_HUMAN Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA. 216 integral to membrane breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3) 18 TCAACCCATTCAATGGATGGC 0.498000 159 24 0 0 1 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153270491 153270491 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:153270491G>A uc001fbn.1 - 6 1020 c.967C>T c.(967-969)Ctg>Ttg p.L323L NM_052891 NP_443123 Q96LB9 PGRP3_HUMAN Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA. 323 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding p.L323L(1) breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCAGGGGACAGGATGTTGACC 0.597000 176 45 0 0 1 0 0 ITGB6 3694 broad.mit.edu 37 2 160964243 160964243 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:160964243G>A uc002ubh.2 - 13 2230 c.2215C>T c.(2215-2217)Cgt>Tgt p.R739C ITGB6_uc010fou.2_Missense_Mutation_p.R739C|ITGB6_uc010zcq.1_Missense_Mutation_p.R697C|ITGB6_uc010fov.1_Missense_Mutation_p.R739C NM_000888 NP_000879 P18564 ITB6_HUMAN Homo sapiens integrin, beta 6 (ITGB6), mRNA. 739 Interaction with HAX1. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 ACTTCTTTACGATCATGAAAT 0.458000 33 4 0 0 1 0 0 CASP10 843 broad.mit.edu 37 2 202073923 202073923 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:202073923C>T uc002uxj.1 + 8 1471 c.1053C>T c.(1051-1053)ttC>ttT p.F351F CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Silent_p.F284F|CASP10_uc002uxk.1_Silent_p.F308F|CASP10_uc002uxl.2_Silent_p.F351F|CASP10_uc002uxm.2_Silent_p.F308F NM_032977 NP_116759 Q92851 CASPA_HUMAN Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA. 351 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 GGGACTGCTTCGTGTTCTGTA 0.512000 58 4 0 0 1 0 0 GM2A 2760 broad.mit.edu 37 5 150646433 150646433 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:150646433C>T uc003ltr.4 + 2 550 c.385C>T c.(385-387)Ctg>Ttg p.L129L GM2A_uc011dcr.2_Silent_p.L129L|GM2A_uc003ltt.1_Silent_p.L61L NM_000405 NP_000396 P17900 SAP3_HUMAN Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 1, mRNA. 129 lysosome|nucleolus sphingolipid activator protein activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCAGAGCCCCTGCGTACCTA 0.512000 63 17 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784168 9784168 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:9784168C>T uc003gmb.4 + 0 911 c.515C>T c.(514-516)tCc>tTc p.S172F NM_000798 NP_000789 P21918 DRD5_HUMAN Homo sapiens dopamine receptor D5 (DRD5), mRNA. 172 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) ATCCTCATCTCCTTCATTCCG 0.627000 45 6 0 0 1 0 0 CLDN14 23562 broad.mit.edu 37 21 37833692 37833692 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:37833692C>T uc021wja.1 - 0 302 c.302G>A c.(301-303)gGg>gAg p.G101E CLDN14_uc002yvn.1_Missense_Mutation_p.G101E|CLDN14_uc002yvo.1_Missense_Mutation_p.G101E|CLDN14_uc002yvk.1_Missense_Mutation_p.G101E|CLDN14_uc002yvl.1_Missense_Mutation_p.G101E|CLDN14_uc002yvm.1_Missense_Mutation_p.G101E NM_144492 NP_652763 O95500 CLD14_HUMAN Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA. 101 calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|lung(5)|skin(1) 7 GCACTTCATCCCGATGACGGC 0.682000 63 10 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2525331 2525331 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:2525331C>T uc001ajy.2 - 18 2003 c.1789G>A c.(1789-1791)Gag>Aag p.E597K MMEL1_uc009vlg.1_Non-coding_Transcript NM_033467 NP_258428 Q495T6 MMEL1_HUMAN Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA. 597 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) TGTGGCTGCTCCTTGCTGAAG 0.592000 43 11 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40063726 40063726 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:40063726G>A uc002hyg.3 - 6 879 c.716C>T c.(715-717)cCt>cTt p.P239L ACLY_uc002hyh.3_Missense_Mutation_p.P239L|ACLY_uc002hyi.3_Missense_Mutation_p.P293L|ACLY_uc010wfx.2_Missense_Mutation_p.P293L|ACLY_uc010wfy.2_Intron NM_001096 NP_001087 P53396 ACLY_HUMAN Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA. 239 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) GAAGGGGGGAGGGAACTCGAT 0.577000 94 6 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599268 29599268 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:29599268G>A uc001usl.4 + 0 521 c.463G>A c.(463-465)Gac>Aac p.D155N NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 145 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GGCCAGTCTAGACGTTTTGGC 0.512000 58 15 0 0 1 0 0 ICAM2 3384 broad.mit.edu 37 17 62081208 62081208 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:62081208G>A uc002jdu.4 - 2 677 c.445C>T c.(445-447)Ctg>Ttg p.L149L C17orf72_uc002jdt.4_3'UTR|C17orf72_uc021ubo.1_3'UTR|C17orf72_uc010wpw.2_3'UTR|C17orf72_uc010wpu.2_3'UTR|C17orf72_uc010wpv.2_3'UTR|ICAM2_uc002jdw.4_Silent_p.L149L|ICAM2_uc010ded.3_Silent_p.L149L|ICAM2_uc002jdx.4_Silent_p.L149L|ICAM2_uc002jdv.4_Silent_p.L149L NM_000873 NP_001093259 P13598 ICAM2_HUMAN Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA. 149 Ig-like C2-type 2. cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding large_intestine(1)|lung(2)|ovary(1)|skin(2) 6 CCACGGAACAGGAAGAGGGTG 0.602000 70 4 0 0 1 0 0 SRPK1 6732 broad.mit.edu 37 6 35837316 35837316 + Nonsense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:35837316C>A uc003olj.3 - 10 1478 c.1354G>T c.(1354-1356)Gag>Tag p.E452* SRPK1_uc003olh.3_Nonsense_Mutation_p.E345*|SRPK1_uc003oli.3_Nonsense_Mutation_p.E345*|SRPK1_uc011dtg.2_Nonsense_Mutation_p.E436* NM_003137 NP_003128 Q96SB4 SRPK1_HUMAN Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA. 452 Protein kinase. RNA splicing|cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 CAGGGTATCTCTGCCCGAATG 0.468000 90 12 0.000978159 0.00098697 1 1 0 ZNF638 27332 broad.mit.edu 37 2 71653767 71653767 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:71653767C>T uc002shx.3 + 23 5091 c.4768C>T c.(4768-4770)Cgt>Tgt p.R1590C ZNF638_uc002shz.3_Missense_Mutation_p.R1590C|ZNF638_uc002shy.3_Missense_Mutation_p.R1590C|ZNF638_uc002sia.3_Missense_Mutation_p.R1590C|ZNF638_uc002sib.1_3'UTR|ZNF638_uc002sic.3_Missense_Mutation_p.R687C|ZNF638_uc002sid.3_5'UTR NM_014497 NP_055312 Q14966 ZN638_HUMAN Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA. 1590 RNA splicing cytoplasm|nuclear speck RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TTCCACTCCTCGTGGTGTTGA 0.418000 34 4 0 0 1 0 0 RSPH6A 81492 broad.mit.edu 37 19 46307638 46307638 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:46307638C>T uc002pdm.3 - 2 1696 c.1525G>A c.(1525-1527)Gag>Aag p.E509K RSPH6A_uc002pdl.3_Missense_Mutation_p.E245K NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA. 509 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 TCCTCCTCCTCGTCGCCCTCC 0.657000 41 7 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110510693 110510693 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:110510693C>T uc003yne.3 + 65 10706 c.10602C>T c.(10600-10602)agC>agT p.S3534S NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 3534 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CCAAACAGAGCTCATTAATTG 0.428000 HNSCC(38;0.096) 30 6 0 0 1 0 0 MAST2 23139 broad.mit.edu 37 1 46496338 46496338 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:46496338C>T uc001cov.3 + 21 2896 c.2613C>T c.(2611-2613)acC>acT p.T871T MAST2_uc001cow.3_Silent_p.T871T|MAST2_uc001coy.1_Silent_p.T545T|MAST2_uc001coz.1_Silent_p.T756T|MAST2_uc001cpa.3_Non-coding_Transcript NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA. 871 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CACCCCCGACCAAGCGCAGCC 0.652000 11 5 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12131132 12131132 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:12131132C>T uc003nac.3 + 5 6521 c.6342C>T c.(6340-6342)cgC>cgT p.R2114R HIVEP1_uc011diq.2_Non-coding_Transcript NM_002114 NP_002105 P15822 ZEP1_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA. 2114 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CAGATGTCCGCCCCTACCACT 0.403000 32 6 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65246579 65246579 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:65246579C>T uc001xht.3 - 19 4388 c.4337G>A c.(4336-4338)gGa>gAa p.G1446E SPTB_uc001xhr.3_Missense_Mutation_p.G1446E|SPTB_uc001xhs.3_Missense_Mutation_p.G1446E|SPTB_uc001xhu.3_Missense_Mutation_p.G1446E|SPTB_uc010aqi.3_Missense_Mutation_p.G107E NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 1446 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TCCCTCCTCTCCCATTGAAGG 0.577000 136 8 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134076145 134076145 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:134076145G>A uc003iha.3 + 2 3590 c.2764G>A c.(2764-2766)Gat>Aat p.D922N NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA. 922 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GGGAGATAGTGATCATGATGC 0.398000 68 4 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39905145 39905145 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:39905145C>T uc021olw.1 + 36 13749 c.13749C>T c.(13747-13749)atC>atT p.I4583I MACF1_uc021ols.1_Silent_p.I4078I|MACF1_uc021olt.1_Silent_p.I4081I NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 6148 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATCCTTCCATCATCAAACAAC 0.438000 55 6 0 0 1 0 0 SPRYD3 84926 broad.mit.edu 37 12 53470966 53470966 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:53470966G>A uc001sbt.2 - 1 190 c.103C>T c.(103-105)Cga>Tga p.R35* SPRYD3_uc010snw.2_5'UTR NM_032840 NP_116229 Q8NCJ5 SPRY3_HUMAN Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA. 35 B30.2/SPRY. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 CGGACCTCTCGAATCTCCCGG 0.488000 48 4 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128192632 128192632 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:128192632G>A uc010qum.2 - 3 1458 c.1428C>T c.(1426-1428)aaC>aaT p.N476N C10orf90_uc001ljp.3_Silent_p.N332N|C10orf90_uc001ljq.3_Silent_p.N379N|C10orf90_uc009yao.2_Silent_p.N476N|C10orf90_uc001ljs.1_Silent_p.N332N NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA. 379 p.F476F(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) CAGTGACTTGGTTAGCTCCCA 0.493000 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 78 4 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145147183 145147183 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:145147183G>A uc002tvu.3 - 9 4002 c.3480C>T c.(3478-3480)ttC>ttT p.F1160F ZEB2_uc010zbm.2_Silent_p.F1136F|ZEB2_uc002tvv.3_Silent_p.F1154F|ZEB2_uc010fnp.3_Intron NM_014795 NP_055610 O60315 ZEB2_HUMAN Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA. 1160 Glu-rich (acidic). cytoplasm|nucleolus SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) CTTCCTCCTCGAACTCCTCGT 0.522000 132 9 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85617227 85617227 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:85617227G>A uc003hpd.3 - 57 9205 c.8797C>T c.(8797-8799)Cat>Tat p.H2933Y WDFY3_uc003hpe.1_Missense_Mutation_p.H544Y NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 2933 BEACH. cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TAAAAAAGATGATGGAAGACA 0.418000 46 12 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140229679 140229679 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140229679C>T uc003lhu.2 + 0 2323 c.1599C>T c.(1597-1599)ttC>ttT p.F533F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.F533F NM_031857 NP_114063 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA. 547 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTACAGTTCCAGGTGAGCG 0.677000 136 11 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53104231 53104231 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:53104231G>A uc003tpz.3 + 0 883 c.867G>A c.(865-867)caG>caA p.Q289Q NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 289 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 AGGTCACCCAGTCTGCTGGCC 0.612000 66 4 0 0 1 0 0 GPR123 84435 broad.mit.edu 37 10 134898364 134898364 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:134898364C>T uc001llw.3 + 7 1426 c.1426C>T c.(1426-1428)Cct>Tct p.P476S Q86SQ6 GP123_HUMAN Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA. 224 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) GCTGAGCCTCCCTGAGGAGGA 0.642000 38 5 0 0 1 0 0 ITPK1 3705 broad.mit.edu 37 14 93581431 93581431 + Silent SNP G A A rs11845925 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:93581431G>A uc001ybg.3 - 1 367 c.78C>T c.(76-78)gcC>gcT p.A26A ITPK1_uc001ybe.2_Silent_p.A26A|ITPK1_uc001ybf.3_5'UTR|ITPK1_uc001ybh.3_Silent_p.A26A NM_014216 NP_055031 Q13572 ITPK1_HUMAN Homo sapiens inositol-tetrakisphosphate 1-kinase (ITPK1), transcript variant 1, mRNA. 26 blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding endometrium(1)|large_intestine(3)|lung(6)|ovary(1) 11 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) GCTCGGCGAAGGCCTGGAAAT 0.657000 23 5 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134755113 134755113 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:134755113C>T uc021qbc.1 - 2 389 c.288G>A c.(286-288)ccG>ccA p.P96P TTC40_uc001llt.2_Silent_p.P96P|TTC40_uc001llu.3_Silent_p.P96P NM_001200049 NP_001186978 Q8IYW2 CJ092_HUMAN Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA. 0 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CTGCCGACTTCGGGGCACACA 0.577000 44 6 0 0 1 0 0 PALMD 54873 broad.mit.edu 37 1 100127916 100127916 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:100127916G>A uc001dsg.3 + 1 530 c.87G>A c.(85-87)ctG>ctA p.L29L NM_017734 NP_060204 Q9NP74 PALMD_HUMAN Homo sapiens palmdelphin (PALMD), mRNA. 29 regulation of cell shape cytoplasm|membrane p.R28C(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) AGAAGCGTCTGAAAATAGAGG 0.269000 17 8 0 0 1 0 0 FOXD4 2298 broad.mit.edu 37 9 117808 117808 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:117808C>T uc003zfz.3 - 0 610 c.312G>A c.(310-312)aaG>aaA p.K104K NM_207305 NP_997188 Q12950 FOXD4_HUMAN Homo sapiens forkhead box D4 (FOXD4), mRNA. 104 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) AGGAGGGGGGCTTTGCCGGCT 0.672000 155 32 0 0 1 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606251 1606251 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:1606251C>T uc001ltu.1 - 0 263 c.229G>A c.(229-231)Ggg>Agg p.G77R MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron NM_001005922 NP_001005922 Q6L8H4 KRA51_HUMAN Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA. 77 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCACAGCCCCCCTTGGAGCCC 0.677000 98 6 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57766566 57766566 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:57766566G>A uc002yan.3 + 0 492 c.492G>A c.(490-492)cgG>cgA p.R164R NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 164 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AGCACATCCGGTCCCACACGG 0.627000 115 13 0 0 1 0 0 CXXC5 51523 broad.mit.edu 37 5 139060858 139060858 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:139060858C>T uc010jfg.1 + 1 1040 c.750C>T c.(748-750)gcC>gcT p.A250A CXXC5_uc003let.2_Silent_p.A250A NM_016463 NP_057547 Q7LFL8 CXXC5_HUMAN Homo sapiens CXXC finger protein 5 (CXXC5), mRNA. 250 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGAGCTGGCCTCTGCCATCA 0.647000 71 4 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9523344 9523344 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:9523344G>A uc002wnl.2 - 9 2438 c.1893C>T c.(1891-1893)atC>atT p.I631I PAK7_uc002wnk.2_Silent_p.I631I|PAK7_uc002wnj.2_Silent_p.I631I|PAK7_uc010gby.1_Intron NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 631 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity p.G630W(1) NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) CTATCACCATGATCCCGAGGG 0.522000 42 6 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089417 9089417 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9089417C>T uc002mkp.3 - 0 2602 c.2398G>A c.(2398-2400)Gaa>Aaa p.E800K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 800 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.G799V(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCTGTCTCTTCCCCTGATGGA 0.512000 107 7 0 0 1 0 0 CRB2 286204 broad.mit.edu 37 9 126133132 126133133 + Silent DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:126133132_126133133CC>TT uc004bnx.1 + 6 1892_1893 c.1800_1801CC>TT c.(1798-1803)ctcctg>ctTTtg p.600_601LL>LL CRB2_uc004bnw.1_Silent_p.600_601LL>LL NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA. 600 Laminin G-like 1. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 AGAACGTCCTCCTGGGCTGTGA 0.658000 32 8 0 0 1 0 0 ZCWPW1 55063 broad.mit.edu 37 7 99999569 99999569 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:99999569G>A uc003uut.3 - 16 1815 c.1567C>T c.(1567-1569)Cct>Tct p.P523S ZCWPW1_uc011kjq.2_Missense_Mutation_p.P403S|ZCWPW1_uc003uur.3_Intron|ZCWPW1_uc003uus.3_Intron|ZCWPW1_uc011kjr.2_Intron|ZCWPW1_uc011kjp.2_Non-coding_Transcript NM_017984 NP_060454 Q9H0M4 ZCPW1_HUMAN Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA. 523 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTGGGTGCAGGAGGAGCTGTG 0.547000 118 8 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 8998712 8998712 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:8998712C>T uc001quz.4 + 13 1675 c.1577C>T c.(1576-1578)tCg>tTg p.S526L A2ML1_uc001qva.1_Missense_Mutation_p.S106L|A2ML1_uc010sgm.2_Missense_Mutation_p.S26L NM_144670 NP_653271 B3KVV6 B3KVV6_HUMAN Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA. 370 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 ACCTTCACTTCGAGACTGGCC 0.478000 94 6 0 0 1 0 0 ACVR1C 130399 broad.mit.edu 37 2 158443912 158443912 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:158443912G>A uc002tzk.4 - 1 334 c.91C>T c.(91-93)Ctt>Ttt p.L31F ACVR1C_uc002tzl.4_Missense_Mutation_p.L31F|ACVR1C_uc010fof.3_Missense_Mutation_p.L31F|ACVR1C_uc010foe.3_5'UTR NM_145259 NP_001104501 Q8NER5 ACV1C_HUMAN Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA. 31 apoptosis|cell differentiation|regulation of apoptosis activin receptor complex ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 TCACACAAAAGACATACACAC 0.368000 60 10 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 121100150 121100150 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:121100150A>T uc003eec.4 + 22 2570 c.2430A>T c.(2428-2430)gaA>gaT p.E810D STXBP5L_uc011bji.2_Missense_Mutation_p.E786D NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 810 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AAAACCGAGAAAATTCCTATA 0.294000 19 4 0 0 1 0 0 NEK6 10783 broad.mit.edu 37 9 127083792 127083792 + Missense_Mutation SNP G A A rs143094065 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:127083792G>A uc004boh.3 + 5 712 c.451G>A c.(451-453)Gag>Aag p.E151K NEK6_uc004bof.3_Missense_Mutation_p.E135K|NEK6_uc004bog.3_Missense_Mutation_p.E117K|NEK6_uc010mwk.3_Missense_Mutation_p.E117K|NEK6_uc022bnf.1_Missense_Mutation_p.E151K|NEK6_uc004boi.3_Missense_Mutation_p.E117K|NEK6_uc022bng.1_Missense_Mutation_p.E142K NM_001145001 NP_055212 Q9HC98 NEK6_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 6 (NEK6), transcript variant 1, mRNA. 117 Protein kinase. apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition cytoplasm|nucleus ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 CGAAGACAACGAGCTGAACAT 0.567000 50 4 0 0 1 0 0 FCHO1 23149 broad.mit.edu 37 19 17892525 17892525 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:17892525C>T uc002nhg.3 + 22 2112 c.1833C>T c.(1831-1833)gtC>gtT p.V611V FCHO1_uc010ebb.2_Silent_p.V611V|FCHO1_uc002nhh.2_Silent_p.V611V|FCHO1_uc010xpw.1_Silent_p.V561V NM_001161357 NP_001154829 O14526 FCHO1_HUMAN Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA. 611 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 CCCCAGGAGTCTCCCGGGGTC 0.627000 116 28 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117261780 117261780 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:117261780G>A uc001prc.3 + 16 2279 c.2132G>A c.(2131-2133)aGg>aAg p.R711K CEP164_uc001prb.3_Missense_Mutation_p.R714K|CEP164_uc010rxk.1_Missense_Mutation_p.R685K|CEP164_uc001prf.3_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Missense_Mutation_p.R144K NM_014956 NP_055771 Q9UPV0 CE164_HUMAN Homo sapiens centrosomal protein 164kDa (CEP164), mRNA. 711 Glu-rich. DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) AAGGCTGAGAGGGCCAGCTTG 0.542000 73 4 0 0 1 0 0 PKLR 5313 broad.mit.edu 37 1 155265495 155265495 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:155265495C>T uc001fkb.4 - 2 375 c.336G>A c.(334-336)atG>atA p.M112I PKLR_uc001fka.4_Missense_Mutation_p.M81I|PKLR_uc010pga.1_Missense_Mutation_p.M48I NM_000298 NP_000289 P30613 KPYR_HUMAN Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 112 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) GCGCAATGTTCATCCCGGCCT 0.632000 55 11 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200968488 200968488 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:200968488G>A uc001gvs.2 - 12 2191 c.1874C>T c.(1873-1875)cCc>cTc p.P625L KIF21B_uc009wzl.2_Missense_Mutation_p.P625L|KIF21B_uc001gvr.2_Missense_Mutation_p.P625L|KIF21B_uc010ppn.2_Missense_Mutation_p.P625L NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 625 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CTTCTCCTCGGGGTCTGAGTC 0.622000 78 14 0 0 1 0 0 CD200R1 131450 broad.mit.edu 37 3 112648243 112648243 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:112648243G>A uc003dzj.1 - 3 547 c.314C>T c.(313-315)cCt>cTt p.P105L CD200R1_uc003dzk.1_Missense_Mutation_p.P82L|CD200R1_uc011bhx.1_Missense_Mutation_p.P60L|CD200R1_uc003dzl.1_Missense_Mutation_p.P105L|CD200R1_uc003dzm.1_Missense_Mutation_p.P82L NM_138806 NP_620161 Q8TD46 MO2R1_HUMAN Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA. 82 Ig-like V-type. interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 TGTGCAGGAAGGCTGGCCTCT 0.428000 24 3 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161954705 161954705 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:161954705C>T uc010pkq.2 - 6 1967 c.1543G>A c.(1543-1545)Gaa>Aaa p.E515K OLFML2B_uc001gbt.3_5'UTR|OLFML2B_uc001gbu.3_Missense_Mutation_p.E514K NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA. 514 Olfactomedin-like. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) CAGGCCCCTTCATTCCGCCCA 0.557000 125 7 0 0 1 0 0 PPP1R10 5514 broad.mit.edu 37 6 30576621 30576621 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:30576621G>A uc003nqn.1 - 4 817 c.265C>T c.(265-267)Ccc>Tcc p.P89S PPP1R10_uc010jsc.1_5'UTR NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA. 89 Interaction with TOX4 (By similarity).|TFIIS N-terminal. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 TGGAGGAGGGGAATGTTGTTG 0.448000 46 5 0 0 1 0 0 IL5RA 3568 broad.mit.edu 37 3 3139882 3139882 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:3139882G>A uc011ask.2 - 6 1104 c.460C>T c.(460-462)Cac>Tac p.H154Y IL5RA_uc010hbq.3_Missense_Mutation_p.H154Y|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Missense_Mutation_p.H154Y|IL5RA_uc011asl.2_Missense_Mutation_p.H154Y|IL5RA_uc011asm.1_Missense_Mutation_p.H154Y|IL5RA_uc010hbt.2_Missense_Mutation_p.H154Y|IL5RA_uc011asn.1_Missense_Mutation_p.H154Y|IL5RA_uc010hbu.2_Missense_Mutation_p.H154Y NM_000564 NP_783853 Q01344 IL5RA_HUMAN Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA. 154 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity p.L153F(1) cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) CAGGTGCAGTGAAGGGAAACT 0.423000 48 4 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55955469 55955469 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:55955469C>T uc010qhy.1 - 11 1689 c.1294G>A c.(1294-1296)Gta>Ata p.V432I PCDH15_uc010qhq.2_Missense_Mutation_p.V432I|PCDH15_uc010qhr.2_Missense_Mutation_p.V427I|PCDH15_uc021pqv.1_Missense_Mutation_p.V427I|PCDH15_uc021pqw.1_Missense_Mutation_p.V432I|PCDH15_uc010qht.2_Missense_Mutation_p.V427I|PCDH15_uc021pqx.1_Missense_Mutation_p.V427I|PCDH15_uc001jjv.1_Missense_Mutation_p.V405I|PCDH15_uc021pqy.1_Missense_Mutation_p.V427I|PCDH15_uc021pqz.1_Missense_Mutation_p.V405I|PCDH15_uc010qhv.1_Missense_Mutation_p.V427I|PCDH15_uc010qhw.1_Missense_Mutation_p.V390I|PCDH15_uc010qhx.1_Missense_Mutation_p.V427I|PCDH15_uc010qhz.1_Missense_Mutation_p.V427I|PCDH15_uc010qia.1_Missense_Mutation_p.V405I|PCDH15_uc001jju.1_Missense_Mutation_p.V427I|PCDH15_uc010qib.1_Missense_Mutation_p.V405I|PCDH15_uc001jjw.3_Missense_Mutation_p.V427I NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 427 Cadherin 4. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TCCAGAGCTACTATTCTTAAA 0.363000 HNSCC(58;0.16) 37 4 0 0 1 0 0 COCH 1690 broad.mit.edu 37 14 31349866 31349866 + Silent SNP G A A rs146395267 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:31349866G>A uc001wqr.2 + 7 635 c.555G>A c.(553-555)aaG>aaA p.K185K COCH_uc001wqp.2_Silent_p.K185K|COCH_uc001wqq.4_Silent_p.K185K|LOC100506071_uc001wqs.3_Intron|COCH_uc001wqt.1_5'UTR NM_004086 NP_004077 O43405 COCH_HUMAN Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA. 185 VWFA 1. sensory perception of sound proteinaceous extracellular matrix p.K185K(2)|p.Q184Q(1) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) ATTTACAGAAGAATTTTGTTG 0.423000 78 8 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52553136 52553136 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:52553136G>A uc010bff.3 - 9 1398 c.1236C>T c.(1234-1236)ttC>ttT p.F412F MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_3'UTR NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN Homo sapiens myosin VC (MYO5C), mRNA. 412 Myosin head-like. myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TCTCCACAATGAAGTCGAACA 0.473000 69 24 0 0 1 0 0 BLK 640 broad.mit.edu 37 8 11412923 11412923 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:11412923G>A uc003wty.3 + 7 1283 c.702G>A c.(700-702)tgG>tgA p.W234* NM_001715 NP_001706 P51451 BLK_HUMAN Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA. 234 intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) AGGATGAATGGGAGATCCCCC 0.597000 63 4 0 0 1 0 0 FAM193B 54540 broad.mit.edu 37 5 176966008 176966008 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:176966008G>A uc003mhu.3 - 1 440 c.351C>T c.(349-351)ctC>ctT p.L117L FAM193B_uc003mht.3_5'Flank|FAM193B_uc003mhv.3_5'UTR|FAM193B_uc003mhw.3_Non-coding_Transcript NM_001190946 NP_001177875 Q6IPW0 Q6IPW0_HUMAN Homo sapiens family with sequence similarity 193, member B (FAM193B), transcript variant 3, mRNA. 0 kidney(1)|large_intestine(3) 4 GATTCTTGACGAGCTTTGGCA 0.552000 75 6 0 0 1 0 0 DPT 1805 broad.mit.edu 37 1 168698195 168698195 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:168698195C>T uc001gfp.3 - 0 248 c.218G>A c.(217-219)tGg>tAg p.W73* NM_001937 NP_001928 Q07507 DERM_HUMAN Homo sapiens dermatopontin (DPT), mRNA. 73 2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY]. cell adhesion extracellular space|proteinaceous extracellular matrix kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2) 12 all_hematologic(923;0.208) GGCGTAGTTCCATTGTCTGTC 0.582000 111 6 0 0 1 0 0 ALDH2 217 broad.mit.edu 37 12 112235944 112235944 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:112235944G>A uc001tst.3 + 9 1242 c.1146G>A c.(1144-1146)gcG>gcA p.A382A ALDH2_uc010syi.2_Silent_p.A335A NM_000690 NP_000681 P05091 ALDH2_HUMAN Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 382 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity p.A382V(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 22 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) AAGAGGGGGCGAAGCTGCTGT 0.547000 T HMGA2 leiomyoma 38 5 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065824 9065824 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9065824C>T uc002mkp.3 - 2 21826 c.21622G>A c.(21622-21624)Gcc>Acc p.A7208T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7210 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.A7208A(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTGATGTGGCTTTGGATGTC 0.478000 67 4 0 0 1 0 0 GTPBP3 84705 broad.mit.edu 37 19 17452353 17452353 + Silent SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:17452353T>C uc002ngg.4 + 7 1511 c.1416T>C c.(1414-1416)ggT>ggC p.G472G GTPBP3_uc010xpo.2_Silent_p.G462G|GTPBP3_uc010eas.3_Silent_p.G440G|GTPBP3_uc002ngh.4_Silent_p.G419G NM_133644 NP_598399 Q969Y2 GTPB3_HUMAN Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA. 440 tRNA modification mitochondrion GTP binding|GTPase activity p.Q471H(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 18 ACCTCCAGGGTTGCCTGGATG 0.667000 76 3 0 0 1 0 0 SCNN1B 6338 broad.mit.edu 37 16 23379274 23379274 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:23379274G>A uc002dln.3 + 4 1050 c.874G>A c.(874-876)Gaa>Aaa p.E292K NM_000336 NP_000327 P51168 SCNNB_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA. 292 excretion|sensory perception of taste apical plasma membrane WW domain binding|ligand-gated sodium channel activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) CCCTGGAACTGAATTCGGTGA 0.517000 94 7 0 0 1 0 0 C1orf94 84970 broad.mit.edu 37 1 34684359 34684359 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:34684359T>A uc001bxt.3 + 6 2632 c.1794T>A c.(1792-1794)ttT>ttA p.F598L C1orf94_uc001bxs.4_Missense_Mutation_p.F408L NM_001134734 NP_116273 Q6P1W5 CA094_HUMAN Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA. 408 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) GCATAAACTTTTAGATCTCCT 0.502000 47 11 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70591773 70591773 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:70591773G>A uc003xyl.3 - 7 2571 c.1864C>T c.(1864-1866)Cgt>Tgt p.R622C SLCO5A1_uc010lzb.3_Missense_Mutation_p.R567C|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.R622C NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA. 622 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) ATAACCACACGGAGCTGACTT 0.443000 98 4 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112786387 112786387 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:112786387C>T uc002thk.1 + 18 3068 c.2946C>T c.(2944-2946)ccC>ccT p.P982P MERTK_uc002thl.1_Silent_p.P806P NM_006343 NP_006334 Q12866 MERTK_HUMAN Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA. 982 cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 GCTCATTGCCCGATGAACTTT 0.507000 46 4 0 0 1 0 0 DNAJB13 374407 broad.mit.edu 37 11 73670595 73670595 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:73670595C>T uc001ouo.3 + 2 980 c.229C>T c.(229-231)Cct>Tct p.P77S NM_153614 NP_705842 P59910 DJB13_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA. 77 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding large_intestine(3)|lung(2) 5 Breast(11;7.42e-05) GGGTGGGATTCCTTTGGAGTT 0.517000 52 4 0 0 1 0 0 CHST12 55501 broad.mit.edu 37 7 2473018 2473018 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:2473018C>T uc003smc.3 + 1 907 c.744C>T c.(742-744)ttC>ttT p.F248F CHST12_uc003smd.3_Silent_p.F248F|CHST12_uc021zyu.1_Silent_p.F248F|CHST12_uc021zyv.1_Silent_p.F248F NM_001243794 NP_001230723 Q9NRB3 CHSTC_HUMAN Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA. 248 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) GCGACCCCTTCGTGCGCCTGA 0.597000 71 15 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21762904 21762904 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:21762904C>T uc001wag.3 + 1 154 c.154C>T c.(154-156)Cga>Tga p.R52* NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA. 52 response to stimulus|visual perception cilium p.R52*(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) CAGTTTCTTTCGACTTCGCGA 0.393000 44 5 0 0 1 0 0 CCDC135 84229 broad.mit.edu 37 16 57756955 57756955 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:57756955G>A uc002emi.3 + 10 1539 c.1450G>A c.(1450-1452)Gaa>Aaa p.E484K CCDC135_uc002emj.3_Missense_Mutation_p.E484K|CCDC135_uc002emk.3_Missense_Mutation_p.E419K NM_032269 NP_115645 Q8IY82 CC135_HUMAN Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA. 484 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 CCAGAACCGGGAAGACATGCT 0.582000 115 10 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124297945 124297945 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:124297945G>A uc001uft.4 + 18 3050 c.3025G>A c.(3025-3027)Gag>Aag p.E1009K DNAH10_uc010tav.1_Missense_Mutation_p.E551K|DNAH10_uc010taw.1_Missense_Mutation_p.E494K NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1009 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TATTGTGATGGAGAAATTTGC 0.403000 83 6 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227920702 227920702 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:227920702G>A uc021vxr.1 - 28 2776 c.2675C>T c.(2674-2676)cCc>cTc p.P892L COL4A4_uc021vxs.1_Missense_Mutation_p.P892L NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 892 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ATCTCCAAAGGGACCTGGGAT 0.592000 42 10 0 0 1 0 0 ACAP1 9744 broad.mit.edu 37 17 7246853 7246853 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:7246853G>A uc002ggd.2 + 5 706 c.500G>A c.(499-501)cGg>cAg p.R167Q NM_014716 NP_055531 Q15027 ACAP1_HUMAN Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA. 167 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 GCTGGGTACCGGGGACGGGCA 0.652000 38 5 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19345875 19345875 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:19345875C>T uc002nlz.3 + 9 3319 c.3220C>T c.(3220-3222)Ccc>Tcc p.P1074S NCAN_uc010ecc.1_Missense_Mutation_p.P638S NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 1074 EGF-like 2; calcium-binding (Potential). axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CCTTTGCCTCCCCAGCTATGG 0.542000 120 29 0 0 1 0 0 GYLTL1B 120071 broad.mit.edu 37 11 45949844 45949844 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:45949844G>A uc001nbv.1 + 12 1982 c.1871G>A c.(1870-1872)cGa>cAa p.R624Q GYLTL1B_uc001nbw.1_Missense_Mutation_p.R593Q|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R624Q NM_152312 NP_689525 Q8N3Y3 LARG2_HUMAN Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA. 624 muscle cell homeostasis Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(35;0.226) GTGGTGCCACGAGACTGTCCC 0.637000 169 15 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45785615 45785615 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:45785615A>G uc003bgc.3 - 9 1760 c.1708T>C c.(1708-1710)Ttc>Ctc p.F570L SMC1B_uc003bgd.3_Missense_Mutation_p.F570L|SMC1B_uc003bge.1_Missense_Mutation_p.F353L NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA. 570 Flexible hinge. chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) AGAGCGAGGAATGTCTCAGGT 0.373000 50 12 0 0 1 0 0 CR1L 1379 broad.mit.edu 37 1 207867698 207867698 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:207867698G>A uc001hga.4 + 5 585 c.464_splice c.e5-1 p.R155_splice CR1L_uc001hfz.2_Splice_Site|CR1L_uc001hgb.1_Splice_Site NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA. 155 Sushi 2. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 CCTTTCCCAGGAATTATTTGT 0.383000 14 3 0 0 1 0 0 CYP27C1 339761 broad.mit.edu 37 2 127961123 127961123 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:127961123C>T uc002tod.2 - 1 134 c.3G>A c.(1-3)atG>atA p.M1I CYP27C1_uc021vnn.1_Missense_Mutation_p.M1I NM_001001665 NP_001001665 Q4G0S4 C27C1_HUMAN Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA. 1 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 16 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) ATACGCTTCTCATCTTGAGCC 0.383000 74 16 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4057515 4057515 + Missense_Mutation SNP G A A rs144065949 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:4057515G>A uc002cvx.3 - 2 2277 c.1738C>T c.(1738-1740)Cgc>Tgc p.R580C NM_001116 NP_001107 O60503 ADCY9_HUMAN Homo sapiens adenylate cyclase 9 (ADCY9), mRNA. 580 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane ATP binding|adenylate cyclase activity|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CAGCTGCAGCGAGACTCCTTG 0.522000 51 16 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176314231 176314231 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:176314231C>T uc003mfa.3 - 11 1800 c.1708G>A c.(1708-1710)Gag>Aag p.E570K HK3_uc003mez.3_Missense_Mutation_p.E126K NM_002115 NP_002106 P52790 HXK3_HUMAN Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA. 570 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCACAGTCTCGGGAATGGAG 0.617000 39 5 0 0 1 0 0 SCYL3 57147 broad.mit.edu 37 1 169847945 169847945 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:169847945G>A uc001ggs.2 - 2 379 c.181C>T c.(181-183)Cgt>Tgt p.R61C SCYL3_uc001ggt.2_Missense_Mutation_p.R61C NM_181093 NP_851607 Q8IZE3 PACE1_HUMAN Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA. 61 Protein kinase. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity p.R61C(3) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CAAGGGTGACGAAGTGTCTTC 0.408000 107 5 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112702606 112702606 + Silent SNP C T T rs148690514 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:112702606C>T uc002thk.1 + 2 674 c.552C>T c.(550-552)atC>atT p.I184I MERTK_uc002thl.1_Silent_p.I8I NM_006343 NP_006334 Q12866 MERTK_HUMAN Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA. 184 Ig-like C2-type 1. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 ATGAAGAGATCGTGTCTGATC 0.398000 19 4 0 0 1 0 0 ZNF212 7988 broad.mit.edu 37 7 148947810 148947810 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:148947810C>T uc003wfp.3 + 2 581 c.453C>T c.(451-453)acC>acT p.T151T NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN Homo sapiens zinc finger protein 212 (ZNF212), mRNA. 151 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding p.T151T(2) endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) TCTGTTTCACCGAGCAGGAAT 0.498000 105 8 0 0 1 0 0 CPNE7 27132 broad.mit.edu 37 16 89662897 89662898 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:89662897_89662898CC>TT uc002fnp.3 + 16 1900_1901 c.1770_1771CC>TT c.(1768-1773)tcccct>tcTTct p.P591S CPNE7_uc002fnq.3_Missense_Mutation_p.P516S NM_014427 NP_055242 Q9UBL6 CPNE7_HUMAN Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA. 591 lipid metabolic process transporter activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2) 17 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) TCCAGGCATCCCCTGCGGCGCT 0.634000 71 6 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121671 38121671 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:38121671C>T uc003atr.3 + 6 3379 c.3108C>T c.(3106-3108)gaC>gaT p.D1036D TRIOBP_uc003atu.3_Silent_p.D864D|TRIOBP_uc003atq.1_Silent_p.D1036D|TRIOBP_uc003ats.1_Silent_p.D864D NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 1036 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) TGCAGCACGACCCCTTCCCCT 0.642000 101 18 0 0 1 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35936467 35936467 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:35936467C>T uc001byx.3 - 5 1368 c.1110G>A c.(1108-1110)tcG>tcA p.S370S KIAA0319L_uc010ohv.1_Silent_p.S12S|KIAA0319L_uc010ohw.2_Intron|KIAA0319L_uc010ohx.1_Intron NM_024874 NP_079150 Q8IZA0 K319L_HUMAN Homo sapiens KIAA0319-like (KIAA0319L), mRNA. 370 PKD 1. cytoplasmic vesicle part|integral to membrane protein binding p.S370L(1) breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AATTCACCTTCGATAGTTTGA 0.403000 66 15 0 0 1 0 0 DNAI1 27019 broad.mit.edu 37 9 34490045 34490045 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:34490045G>A uc003zum.3 + 5 617 c.424G>A c.(424-426)Gga>Aga p.G142R NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA. 142 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) TTCAGAAACAGGAAACCTCGA 0.498000 Kartagener syndrome 18 5 0 0 1 0 0 TTLL13 440307 broad.mit.edu 37 15 90794104 90794104 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:90794104G>A uc002bpd.1 + 1 530 c.242G>A c.(241-243)aGa>aAa p.R81K TTLL13_uc002bpe.1_Non-coding_Transcript NM_001029964 NP_001025135 A6NNM8 TTL13_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA. 81 protein modification process ATP binding|tubulin-tyrosine ligase activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 16 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) AGGAGGAAGAGAAGGCGGAAA 0.522000 95 28 0 0 1 0 0 EHD1 10938 broad.mit.edu 37 11 64622144 64622144 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:64622144G>A uc010rnq.1 - 5 1355 c.1308C>T c.(1306-1308)ttC>ttT p.F436F EHD1_uc021qkz.1_Silent_p.F105F|EHD1_uc001obu.1_Silent_p.F422F|EHD1_uc001obv.1_Silent_p.F422F NM_006795 NP_006786 Q9H4M9 EHD1_HUMAN Homo sapiens EH-domain containing 1 (EHD1), mRNA. 422 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 AGCCGTGCCCGAACGGCCCGT 0.662000 133 9 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96447668 96447668 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:96447668G>A uc001kjv.4 + 1 636 c.310G>A c.(310-312)Gaa>Aaa p.E104K CYP2C19_uc001kjw.4_Missense_Mutation_p.E104K|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.2_5'Flank NM_000772 NP_000763 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA. 104 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity p.E104Q(1) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TCCAGTGGCTGAAAAAGTTAA 0.458000 10 3 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167787464 167787464 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:167787464G>A uc001ger.3 - 30 4626 c.4328C>T c.(4327-4329)tCc>tTc p.S1443F ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.S1290F|ADCY10_uc009wvk.3_Missense_Mutation_p.S1351F NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 1443 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction ATP binding|adenylate cyclase activity|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AGCTCTATTGGAAAATTTGTA 0.383000 49 6 0 0 1 0 0 BPIFB2 80341 broad.mit.edu 37 20 31606600 31606600 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:31606600C>T uc002wyj.3 + 8 1021 c.827C>T c.(826-828)gCc>gTc p.A276V NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA. 276 extracellular region lipid binding AAGGCCGGTGCCCTCAACCTG 0.672000 50 11 0 0 1 0 0 KIAA0196 9897 broad.mit.edu 37 8 126056250 126056250 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:126056250G>A uc003yrt.3 - 21 3083 c.2754C>T c.(2752-2754)ccC>ccT p.P918P KIAA0196_uc011lir.2_Silent_p.P770P NM_014846 NP_055661 Q12768 STRUM_HUMAN Homo sapiens KIAA0196 (KIAA0196), mRNA. 918 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TACTTTTTAGGGGACTGACAG 0.378000 10 4 0 0 1 0 0 GBP4 115361 broad.mit.edu 37 1 89661103 89661103 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:89661103G>A uc001dnb.3 - 2 356 c.240C>T c.(238-240)ttC>ttT p.F80F NM_052941 NP_443173 Q96PP9 GBP4_HUMAN Homo sapiens guanylate binding protein 4 (GBP4), mRNA. 80 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) AGCCCAGAGGGAAGCCTGCAG 0.512000 50 11 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140741975 140741975 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140741975C>T uc003ljs.2 + 0 2273 c.2273C>T c.(2272-2274)tCa>tTa p.S758L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.S758L|PCDHGC5_uc011das.2_5'Flank NM_018923 NP_061746 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA. 780 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTTGCCTCACAATCAGCC 0.493000 134 25 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152278990 152278990 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152278990C>T uc001ezu.1 - 2 8408 c.8372G>A c.(8371-8373)gGg>gAg p.G2791E NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 2791 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.P2790Q(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTGCTTGACCCCGGGTGTCC 0.592000 Ichthyosis 614 34 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124411260 124411260 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:124411260C>T uc001uft.4 + 67 11669 c.11644C>T c.(11644-11646)Ctg>Ttg p.L3882L DNAH10_uc001ufu.4_5'UTR NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 3882 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGTGTTTATCCTGAGTCCTGG 0.473000 39 4 0 0 1 0 0 C3orf24 115795 broad.mit.edu 37 3 10146467 10146467 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:10146467C>T uc003buz.3 - 2 218 c.-7_splice c.e2-1 C3orf24_uc003bva.2_Intron|C3orf24_uc021wsy.1_5'Flank NM_173472 NP_775743 Q96PS1 CC024_HUMAN Homo sapiens chromosome 3 open reading frame 24 (C3orf24), transcript variant 1, mRNA. endometrium(1)|large_intestine(2)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(96;0.196) ATTGACAGTCCTAAAGGAGGG 0.488000 64 4 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101845319 101845319 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:101845319C>T uc003uys.4 + 17 2902 c.2775C>T c.(2773-2775)tcC>tcT p.S925S CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.S914S NM_001202543 NP_001189472 P39880 CUX1_HUMAN Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA. 914 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 TGCCATCCTCCCCGATCGTGC 0.657000 80 10 0 0 1 0 0 SYN3 8224 broad.mit.edu 37 22 32914272 32914272 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:32914272G>A uc003amx.3 - 11 1530 c.1368C>T c.(1366-1368)ccC>ccT p.P456P SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Silent_p.P455P|SYN3_uc011amc.1_Silent_p.P90P NM_003490 NP_003481 O14994 SYN3_HUMAN Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA. 456 J; Pro-rich linker. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 TCTGTTGGGAGGGGCTTCCAG 0.577000 127 10 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156752575 156752575 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:156752575C>T uc021ygm.1 + 16 2046 c.1908C>T c.(1906-1908)ttC>ttT p.F636F CYFIP2_uc011ddn.2_Silent_p.F611F|CYFIP2_uc011ddo.2_Silent_p.F441F|CYFIP2_uc021ygn.1_Silent_p.F636F|CYFIP2_uc021ygo.1_Silent_p.F636F|CYFIP2_uc003lwt.3_Silent_p.F540F|CYFIP2_uc011ddp.2_Silent_p.F371F NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA. 662 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAATCCAGTTCCCCATCGAGA 0.527000 195 39 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56350866 56350866 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:56350866G>A uc002ivu.1 - 8 1707 c.1530C>T c.(1528-1530)ttC>ttT p.F510F NM_000250 NP_000241 P05164 PERM_HUMAN Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA. 510 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) TGTCCAGGCGGAACATGAAGG 0.592000 157 10 0 0 1 0 0 UBIAD1 29914 broad.mit.edu 37 1 11345969 11345969 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:11345969C>T uc001asg.3 + 1 1132 c.798C>T c.(796-798)ttC>ttT p.F266F NM_013319 NP_037451 Q9Y5Z9 UBIA1_HUMAN Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA. 266 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) CACTGCTCTTCCTGCCCTACC 0.587000 99 21 0 0 1 0 0 KRT6C 286887 broad.mit.edu 37 12 52864920 52864920 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:52864920G>A uc001sal.4 - 4 1121 c.1073C>T c.(1072-1074)aCc>aTc p.T358I NM_173086 NP_775109 P48668 K2C6C_HUMAN Homo sapiens keratin 6C (KRT6C), mRNA. 358 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) GCTCACCTTGGTCTGGTACCA 0.582000 148 22 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50596549 50596549 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:50596549C>T uc003bjj.3 + 22 3213 c.3130C>T c.(3130-3132)Ctg>Ttg p.L1044L MOV10L1_uc003bjk.4_Silent_p.L1044L|MOV10L1_uc011arp.2_Silent_p.L1024L|MOV10L1_uc003bjl.3_Silent_p.L171L|MOV10L1_uc003bjm.1_Silent_p.L87L NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA. 1044 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) CGTCCAGGTCCTGCGCTACTG 0.612000 60 18 0 0 1 0 0 KIAA0825 285600 broad.mit.edu 37 5 93856010 93856010 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:93856010G>A uc011cuk.2 - 4 1170 c.913C>T c.(913-915)Cgt>Tgt p.R305C KIAA0825_uc003kkp.2_Missense_Mutation_p.R305C NM_001145678 NP_001139150 Q8IV33 K0825_HUMAN Homo sapiens KIAA0825 (KIAA0825), transcript variant 1, mRNA. 305 p.R305C(6) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1) 13 TTAACCACACGAACAGCATTT 0.358000 19 5 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10408573 10408573 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:10408573C>T uc002gmo.3 - 20 2436 c.2342G>A c.(2341-2343)cGa>cAa p.R781Q AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 781 Myosin head-like. muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTTCTCATCTCGCATCTCCTC 0.463000 24 5 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503308 140503308 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140503308C>T uc003lip.1 + 0 1728 c.1728C>T c.(1726-1728)ccC>ccT p.P576P NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 576 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCTGGTGCCCCGGGCGGCCG 0.701000 83 10 0 0 1 0 0 ALPP 250 broad.mit.edu 37 2 233246386 233246386 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:233246386G>A uc002vsq.3 + 10 1654 c.1489G>A c.(1489-1491)Gac>Aac p.D497N NM_001632 NP_001623 P05187 PPB1_HUMAN Homo sapiens alkaline phosphatase, placental (ALPP), mRNA. 497 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) CACCGCCTGCGACCTGGCGCC 0.746000 33 6 0 0 1 0 0 CYP11B2 1585 broad.mit.edu 37 8 143999137 143999137 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:143999137G>A uc003yxk.1 - 0 123 c.120C>T c.(118-120)gcC>gcT p.A40A NM_000498 NP_000489 P19099 C11B2_HUMAN Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA. 40 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity p.A40A(2) cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GCTGGGGCATGGCTTCAAACG 0.652000 Familial Hyperaldosteronism type I 79 16 0 0 1 0 0 RORA 6095 broad.mit.edu 37 15 60970872 60970872 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:60970872C>T uc002agx.3 - 1 265 c.180G>A c.(178-180)acG>acA p.T60T NM_134261 NP_599023 P35398 RORA_HUMAN Homo sapiens RAR-related orphan receptor A (RORA), transcript variant 1, mRNA. 0 Modulating. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 21 GTGTCTTCTTCGTTACTGAGA 0.413000 9 5 0 0 1 0 0 TRIM71 131405 broad.mit.edu 37 3 32932655 32932655 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:32932655C>T uc003cff.3 + 3 2022 c.1959C>T c.(1957-1959)ttC>ttT p.F653F NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN Homo sapiens tripartite motif containing 71 (TRIM71), mRNA. 653 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTGGGCAGTTCGACCGACCAG 0.632000 22 10 0 0 1 0 0 SPPL3 121665 broad.mit.edu 37 12 121206241 121206241 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:121206241G>A uc001tzd.3 - 7 1145 c.660C>T c.(658-660)gcC>gcT p.A220A SPPL3_uc001tzc.3_Silent_p.A50A NM_139015 NP_620584 Q8TCT6 PSL4_HUMAN Homo sapiens signal peptide peptidase-like 3 (SPPL3), mRNA. 221 integral to membrane aspartic-type endopeptidase activity all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCGGCTGAGTGGCCACCTTCA 0.542000 112 14 0 0 1 0 0 SRPK2 6733 broad.mit.edu 37 7 104773269 104773269 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:104773269G>A uc003vct.3 - 11 1875 c.1688C>T c.(1687-1689)aCc>aTc p.T563I SRPK2_uc003vcu.3_Missense_Mutation_p.T563I|SRPK2_uc003vcv.3_Missense_Mutation_p.T574I|SRPK2_uc003vcs.1_Non-coding_Transcript NM_182691 NP_872633 P78362 SRPK2_HUMAN Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 2, mRNA. 563 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 GTCCGCAGGGGTGCTGTACCC 0.552000 4 4 0 0 1 0 0 CDKL5 6792 broad.mit.edu 37 X 18626971 18626971 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:18626971C>T uc004cym.3 + 12 2238 c.1985C>T c.(1984-1986)tCt>tTt p.S662F CDKL5_uc004cyn.3_Missense_Mutation_p.S662F|CDKL5_uc022btn.1_Missense_Mutation_p.S653F NM_003159 NP_003150 O76039 CDKL5_HUMAN Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA. 662 neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) GTGGCAAGATCTTCGGTCAAA 0.438000 19 5 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86089055 86089055 + Silent SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:86089055T>G uc021rxf.1 + 0 1197 c.1197T>G c.(1195-1197)acT>acG p.T399T FLRT2_uc001xvr.3_Silent_p.T399T|FLRT2_uc010atd.3_Silent_p.T399T NM_013231 NP_037363 O43155 FLRT2_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA. 399 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) CGCCTCCAACTCCTACCACAT 0.537000 51 12 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156924097 156924097 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:156924097G>A uc003lwz.3 - 14 1478 c.1399_splice c.e14-1 p.L467_splice ADAM19_uc003lww.2_Splice_Site_p.L200_splice|ADAM19_uc003lwy.3_Splice_Site_p.L66_splice|ADAM19_uc011ddr.1_Splice_Site_p.L398_splice NM_033274 NP_150377 Q9H013 ADA19_HUMAN Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA. 467 Disintegrin. proteolysis integral to membrane SH3 domain binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGAGCCAACAGCTGAGCCAAG 0.557000 18 4 0 0 1 0 0 WNT7A 7476 broad.mit.edu 37 3 13860804 13860804 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:13860804C>T uc003bye.1 - 3 992 c.687G>A c.(685-687)aaG>aaA p.K229K NM_004625 NP_004616 O00755 WNT7A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA. 229 Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 TGTACTTGTCCTTGAGCACGT 0.597000 64 8 0 0 1 0 0 ACSBG2 81616 broad.mit.edu 37 19 6165883 6165883 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:6165883G>A uc002mef.1 + 6 822 c.595G>A c.(595-597)Gat>Aat p.D199N ACSBG2_uc002mee.1_Missense_Mutation_p.D12N|ACSBG2_uc002meg.1_Missense_Mutation_p.D199N|ACSBG2_uc002meh.1_Missense_Mutation_p.D199N|ACSBG2_uc002mei.1_Missense_Mutation_p.D149N|ACSBG2_uc010xiz.1_Missense_Mutation_p.D199N NM_030924 NP_112186 Q5FVE4 ACBG2_HUMAN Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA. 199 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ACAGTGGGATGATTTCATGGA 0.517000 OREG0025194 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 5 0 0 1 0 0 NEU2 4759 broad.mit.edu 37 2 233899291 233899291 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:233899291G>A uc010zmn.2 + 1 667 c.667G>A c.(667-669)Gaa>Aaa p.E223K NM_005383 NP_005374 Q9Y3R4 NEUR2_HUMAN Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA. 223 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) CCAGGTGGCCGAAGTCGAGAC 0.652000 35 8 0 0 1 0 0 CYP4B1 1580 broad.mit.edu 37 1 47282724 47282724 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:47282724G>A uc001cqn.4 + 8 1162 c.1078G>A c.(1078-1080)Gat>Aat p.D360N CYP4B1_uc001cqm.4_Missense_Mutation_p.D359N|CYP4B1_uc009vym.3_Missense_Mutation_p.D345N|CYP4B1_uc010omk.2_Missense_Mutation_p.D196N NM_001099772 NP_001093242 P13584 CP4B1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA. 359 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) TGGCAGGGATGATCTGGGCAA 0.552000 147 14 0 0 1 0 0 NLK 51701 broad.mit.edu 37 17 26495639 26495639 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:26495639C>T uc010crj.3 + 5 1215 c.1003C>T c.(1003-1005)Cta>Tta p.L335L NM_016231 NP_057315 Q9UBE8 NLK_HUMAN Homo sapiens nemo-like kinase (NLK), mRNA. 335 Protein kinase. Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1) 14 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) TGCAGAACTACTAGGACGAAG 0.408000 69 8 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30490433 30490433 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:30490433C>T uc002dyi.4 + 4 525 c.349C>T c.(349-351)Cga>Tga p.R117* ITGAL_uc010veu.1_Non-coding_Transcript|ITGAL_uc002dyj.4_Intron|ITGAL_uc010vev.2_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA. 117 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) TGGGCTGTCTCGAACGTGTGA 0.517000 51 14 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232568155 232568155 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:232568155G>A uc001hvg.3 - 13 4252 c.4094C>T c.(4093-4095)tCa>tTa p.S1365L SIPA1L2_uc001hvf.3_Missense_Mutation_p.S439L NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA. 1365 Ser-rich. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GACTTTGGATGAATCCAGAGA 0.483000 55 5 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6702615 6702615 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:6702615G>A uc001qpo.3 - 15 2645 c.2481C>T c.(2479-2481)gcC>gcT p.A827A CHD4_uc001qpn.3_Silent_p.A820A|CHD4_uc001qpp.3_Silent_p.A824A NM_001273 NP_001264 Q14839 CHD4_HUMAN Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA. 827 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CACCACGAATGGCATTGTCTT 0.507000 107 13 0 0 1 0 0 GARS 2617 broad.mit.edu 37 7 30642717 30642717 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:30642717C>T uc003tbm.3 + 4 994 c.637C>T c.(637-639)Cgt>Tgt p.R213C NM_002047 NP_002038 P41250 SYG_HUMAN Homo sapiens glycyl-tRNA synthetase (GARS), mRNA. 213 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) AGAATGTTTTCGTGCTGACCA 0.353000 46 6 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47249063 47249063 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:47249063C>T uc010fbb.3 + 11 1823 c.1455C>T c.(1453-1455)ttC>ttT p.F485F TTC7A_uc002rvm.3_Silent_p.F451F|TTC7A_uc002rvn.1_Silent_p.F366F|TTC7A_uc002rvo.3_Silent_p.F485F|TTC7A_uc010fbc.3_Silent_p.F131F|TTC7A_uc002rvp.3_Silent_p.F366F|TTC7A_uc002rvq.3_Silent_p.F225F|TTC7A_uc002rvr.3_Intron NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA. 485 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) CCGGGGAGTTCCTCCCCAAGG 0.612000 84 5 0 0 1 0 0 DGKA 1606 broad.mit.edu 37 12 56346536 56346536 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:56346536G>A uc001sij.3 + 20 2026 c.1762G>A c.(1762-1764)Gat>Aat p.D588N DGKA_uc009zod.1_Missense_Mutation_p.D507N|DGKA_uc001sik.3_Missense_Mutation_p.D588N|DGKA_uc001sil.3_Missense_Mutation_p.D588N|DGKA_uc001sim.3_Missense_Mutation_p.D588N|DGKA_uc001sin.3_Missense_Mutation_p.D588N|DGKA_uc009zof.3_Missense_Mutation_p.D234N|DGKA_uc001sio.3_Missense_Mutation_p.D330N NM_001345 NP_963848 P23743 DGKA_HUMAN Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA. 588 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) GAAACCGCTGGATCTGAGCAA 0.562000 89 15 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546281 11546281 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:11546281C>T uc010shk.1 - 2 766 c.731G>A c.(730-732)gGa>gAa p.G244E NM_006248 NP_006239 Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA. NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGGGGTGGTCCTTGTGGCTT 0.602000 181 16 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100838890 100838890 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:100838890G>A uc003pqj.4 - 10 2115 c.1648C>T c.(1648-1650)Cgt>Tgt p.R550C SIM1_uc021zdg.1_Missense_Mutation_p.R550C|SIM1_uc010kcu.3_Missense_Mutation_p.R550C NM_005068 NP_005059 P81133 SIM1_HUMAN Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA. 550 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TGCTCAGTACGATATCGGTCA 0.423000 50 4 0 0 1 0 0 CLEC2L 154790 broad.mit.edu 37 7 139226837 139226837 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:139226837G>A uc010lnd.3 + 3 503 c.503G>A c.(502-504)tGg>tAg p.W168* NM_001080511 NP_001073980 P0C7M8 CLC2L_HUMAN Homo sapiens C-type lectin domain family 2, member L (CLEC2L), mRNA. 168 C-type lectin. integral to membrane sugar binding NS(1)|endometrium(1)|kidney(2)|lung(1) 5 Melanoma(164;0.233) GAATTCCACTGGGTCAACGGG 0.562000 19 3 0 0 1 0 0 C9orf156 51531 broad.mit.edu 37 9 100678503 100678503 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:100678503C>T uc004axv.1 - 1 271 c.194G>A c.(193-195)aGg>aAg p.R65K C9orf156_uc004axw.1_5'UTR|C9orf156_uc010msq.1_5'UTR|C9orf156_uc022bku.1_Missense_Mutation_p.R65K NM_016481 NP_057565 Q9BU70 NAP1_HUMAN Homo sapiens chromosome 9 open reading frame 156 (C9orf156), mRNA. 65 interspecies interaction between organisms hydrolase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1) 13 Acute lymphoblastic leukemia(62;0.158) ATTAAAGATCCTCTTTCTAAT 0.418000 22 7 0 0 1 0 0 PRAME 23532 broad.mit.edu 37 22 22892158 22892158 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:22892158G>A uc002zwf.3 - 3 1099 c.943C>T c.(943-945)Cag>Tag p.Q315* abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Nonsense_Mutation_p.Q299*|PRAME_uc010gtr.3_Nonsense_Mutation_p.Q315*|PRAME_uc002zwg.3_Nonsense_Mutation_p.Q315*|PRAME_uc002zwh.3_Nonsense_Mutation_p.Q315*|PRAME_uc002zwi.3_Nonsense_Mutation_p.Q315*|PRAME_uc002zwj.3_Nonsense_Mutation_p.Q315*|PRAME_uc002zwk.3_Nonsense_Mutation_p.Q315* NM_206956 NP_996839 P78395 PRAME_HUMAN Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA. 315 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) CTGAGCAACTGATCCAGGCGG 0.493000 22 6 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55378053 55378053 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55378053G>A uc002qhl.4 + 8 1298 c.1235G>A c.(1234-1236)aGt>aAt p.S412N KIR3DL2_uc002qho.4_Missense_Mutation_p.S412N|KIR3DL2_uc010esh.3_Missense_Mutation_p.S395N P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA. 412 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) AGAAAAATCAGTCGCCCTTCT 0.517000 205 18 0 0 1 0 0 AGPAT4 56895 broad.mit.edu 37 6 161587427 161587427 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:161587427C>T uc003qtr.1 - 2 428 c.201G>A c.(199-201)tgG>tgA p.W67* AGPAT4_uc003qts.1_Intron|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_Non-coding_Transcript|AGPAT4_uc011egc.1_Nonsense_Mutation_p.W67*|AGPAT4_uc011egd.1_Nonsense_Mutation_p.W5*|AGPAT4_uc011ege.1_Intron NM_020133 NP_064518 Q9NRZ5 PLCD_HUMAN Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA. 67 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) TGCCCGACCACCACTCCAGCA 0.547000 46 4 0 0 1 0 0 PPEF2 5470 broad.mit.edu 37 4 76797800 76797800 + Silent SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:76797800C>A uc003hix.3 - 10 1317 c.960G>T c.(958-960)acG>acT p.T320T PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Silent_p.T320T NM_006239 NP_006230 O14830 PPE2_HUMAN Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA. 320 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TCTTCTGTCTCGTTTTGCACC 0.522000 75 4 1 1 1 1 0 SLC38A10 124565 broad.mit.edu 37 17 79226967 79226967 + Silent SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:79226967C>A uc002jzz.1 - 11 1737 c.1362G>T c.(1360-1362)ctG>ctT p.L454L SLC38A10_uc002jzy.1_Silent_p.L372L|SLC38A10_uc002kab.3_Silent_p.L454L NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA. 454 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GGGCCTGCTCCAGCTCCTCTC 0.657000 OREG0024813 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 105 5 0.184627 0.185455 1 1 0 IGF1R 3480 broad.mit.edu 37 15 99251220 99251220 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:99251220C>T uc002bul.3 + 1 574 c.524C>T c.(523-525)cCa>cTa p.P175L IGF1R_uc010urq.2_Missense_Mutation_p.P175L|IGF1R_uc010bon.3_Missense_Mutation_p.P175L NM_000875 NP_000866 P08069 IGF1R_HUMAN Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA. 175 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding p.P175Q(2) NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) AATAAGCCCCCAAAGGAATGT 0.517000 106 10 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76918415 76918415 + Missense_Mutation SNP G A A rs111033192 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:76918415G>A uc001oyb.2 + 41 6096 c.5824G>A c.(5824-5826)Gga>Aga p.G1942R MYO7A_uc001oyc.2_Missense_Mutation_p.G1904R|MYO7A_uc001oye.2_Non-coding_Transcript NM_000260 NP_000251 Q13402 MYO7A_HUMAN Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA. 1942 FERM 2. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse ATP binding|actin binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GTCCTCAGAGGGATTCAGCCT 0.567000 12 3 0 0 1 0 0 TSC22D2 9819 broad.mit.edu 37 3 150128657 150128657 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:150128657C>T uc003exv.3 + 0 1870 c.1520C>T c.(1519-1521)cCa>cTa p.P507L TSC22D2_uc003exw.3_Non-coding_Transcript|TSC22D2_uc003exx.3_Missense_Mutation_p.P507L NM_014779 NP_055594 O75157 T22D2_HUMAN Homo sapiens TSC22 domain family, member 2 (TSC22D2), mRNA. 507 sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CCCGGAGTTCCAAACGTGCCT 0.662000 30 4 0 0 1 0 0 C20orf112 140688 broad.mit.edu 37 20 31041211 31041211 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:31041211C>T uc002wxu.4 - 4 818 c.661G>A c.(661-663)Gag>Aag p.E221K NM_080616 NP_542183 Q96MY1 CT112_HUMAN Homo sapiens chromosome 20 open reading frame 112 (C20orf112), mRNA. 221 endometrium(3)|kidney(2)|large_intestine(5)|lung(5) 15 CTGCAGGACTCGATGATGGCC 0.597000 44 4 0 0 1 0 0 MOB2 81532 broad.mit.edu 37 11 1492538 1492538 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:1492538G>A uc010qwz.2 - 3 639 c.477C>T c.(475-477)ttC>ttT p.F159F MOB2_uc001ltq.2_Silent_p.F122F|MOB2_uc001lto.2_Silent_p.F43F|MOB2_uc001ltp.1_5'UTR NM_001172223 NP_001165694 Q70IA6 MOB2_HUMAN Homo sapiens MOB kinase activator 2 (MOB2), transcript variant 1, mRNA. 128 nucleus|perinuclear region of cytoplasm metal ion binding breast(1)|kidney(2)|lung(1) 4 ATTTTGTGGGGAACACGTCCT 0.592000 13 6 0 0 1 0 0 C1orf116 79098 broad.mit.edu 37 1 207196120 207196120 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:207196120G>A uc001hfd.2 - 3 1248 c.989C>T c.(988-990)cCt>cTt p.P330L C1orf116_uc009xcb.1_Missense_Mutation_p.P84L|C1orf116_uc021pii.1_Missense_Mutation_p.P84L NM_023938 NP_001077393 Q9BW04 SARG_HUMAN Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA. 330 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) AGAATCTCCAGGGGCAGCCTC 0.557000 34 18 0 0 1 0 0 DNAJC6 9829 broad.mit.edu 37 1 65858423 65858423 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:65858423C>T uc001dce.1 + 11 1979 c.1778C>T c.(1777-1779)cCc>cTc p.P593L DNAJC6_uc001dcc.1_Missense_Mutation_p.P567L|DNAJC6_uc001dcd.1_Missense_Mutation_p.P536L|DNAJC6_uc010opc.1_Missense_Mutation_p.P523L NM_014787 NP_055602 O75061 AUXI_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA. 536 Pro-rich. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 GCAGCTGGTCCCACCCAGGCT 0.587000 13 3 0 0 1 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19436542 19436542 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:19436542C>T uc001reb.3 + 10 1732 c.1624C>T c.(1624-1626)Ccc>Tcc p.P542S PLEKHA5_uc010sie.2_Missense_Mutation_p.P548S|PLEKHA5_uc001rea.3_Missense_Mutation_p.P542S|PLEKHA5_uc009zin.3_Missense_Mutation_p.P300S|PLEKHA5_uc010sig.2_Missense_Mutation_p.P434S|PLEKHA5_uc010sih.1_Missense_Mutation_p.P434S|PLEKHA5_uc021qvy.1_Missense_Mutation_p.P434S|PLEKHA5_uc001rec.1_Missense_Mutation_p.P230S NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA. 542 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) GCACTCTATTCCCACATCACC 0.458000 115 10 0 0 1 0 0 RALGPS2 55103 broad.mit.edu 37 1 178855150 178855150 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:178855150C>T uc001glz.3 + 12 1425 c.1087C>T c.(1087-1089)Cca>Tca p.P363S RALGPS2_uc010pnb.2_Missense_Mutation_p.P363S NM_152663 NP_689876 Q86X27 RGPS2_HUMAN Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA. 363 small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 TGCAACGTTTCCAAATGCAGG 0.363000 25 6 0 0 1 0 0 C19orf45 374877 broad.mit.edu 37 19 7566164 7566164 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:7566164C>T uc002mgm.2 + 1 597 c.456C>T c.(454-456)ttC>ttT p.F152F NM_198534 NP_940936 Q8NA69 CS045_HUMAN Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA. 152 endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8 GCCTCATCTTCGACCGCGACT 0.751000 24 6 0 0 1 0 0 ZNF528 84436 broad.mit.edu 37 19 52918850 52918850 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:52918850C>T uc002pzh.3 + 6 1171 c.745C>T c.(745-747)Ctc>Ttc p.L249F ZNF528_uc002pzi.3_Missense_Mutation_p.L16F NM_032423 NP_115799 Q3MIS6 ZN528_HUMAN Homo sapiens zinc finger protein 528 (ZNF528), mRNA. 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) ATGTGGCAAGCTCTTCAGTAG 0.403000 38 6 0 0 1 0 0 TRPM5 29850 broad.mit.edu 37 11 2429138 2429138 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:2429138G>A uc010qxl.2 - 18 2796 c.2787C>T c.(2785-2787)gcC>gcT p.A929A TRPM5_uc001lwm.4_Silent_p.A929A|TRPM5_uc009ydn.3_Silent_p.A931A NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA. 929 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) AGTTCACACGGGCTTCTGGAA 0.627000 276 25 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48605947 48605947 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:48605947C>T uc003ctz.2 - 103 7780 c.7779G>A c.(7777-7779)ggG>ggA p.G2593G NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 2593 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity p.A2592T(1) NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CACCAGGGATCCCTGCTGCAC 0.637000 30 4 0 0 1 0 0 HEATR2 54919 broad.mit.edu 37 7 796521 796521 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:796521C>T uc010krz.1 + 5 1380 c.1360C>T c.(1360-1362)Ctg>Ttg p.L454L HEATR2_uc003siz.2_Silent_p.L322L NM_017802 NP_060272 Q86Y56 HEAT2_HUMAN Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA. 454 L -> M (in Ref. 3; AAH47240). protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) CTCCGGCCTCCTGGTGCTGGC 0.647000 131 8 0 0 1 0 0 C15orf38-AP3S2 100526783 broad.mit.edu 37 15 90446517 90446517 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:90446517G>A uc002bos.4 - 4 758 c.603C>T c.(601-603)gcC>gcT p.A201A C15orf38-AP3S2_uc002bot.1_Non-coding_Transcript|C15orf38-AP3S2_uc002bou.2_Silent_p.A201A NM_001199058 NP_001185987 E2QRD5 E2QRD5_HUMAN Homo sapiens C15orf38-AP3S2 readthrough (C15orf38-AP3S2), mRNA. 201 intracellular protein transport|vesicle-mediated transport membrane coat protein transporter activity AACACTTTTGGGCCATGATGT 0.532000 100 25 0 0 1 0 0 IL21R 50615 broad.mit.edu 37 16 27459905 27459905 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:27459905G>A uc002dor.2 + 9 1532 c.984G>A c.(982-984)tgG>tgA p.W328* IL21R_uc002doq.2_Nonsense_Mutation_p.W306*|IL21R_uc002dos.2_Nonsense_Mutation_p.W306*|LOC283888_uc002dot.3_Non-coding_Transcript NM_181079 NP_851565 Q9HBE5 IL21R_HUMAN Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA. 306 natural killer cell activation integral to membrane interleukin-21 receptor activity p.W306C(1) breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 TGGGACCCTGGAGCCCAGAGG 0.607000 T BCL6 NHL 19 5 0 0 1 0 0 TRAF3 7187 broad.mit.edu 37 14 103341984 103341984 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:103341984G>A uc001ymc.2 + 4 674 c.321G>A c.(319-321)aaG>aaA p.K107K TRAF3_uc001ymd.2_Silent_p.K107K|TRAF3_uc001yme.2_Silent_p.K107K|TRAF3_uc010txy.2_Silent_p.K107K NM_145725 NP_663777 Q13114 TRAF3_HUMAN Homo sapiens TNF receptor-associated factor 3 (TRAF3), transcript variant 1, mRNA. 107 apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2) 30 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) ATTGCTGCAAGAGAGAAATTC 0.403000 79 4 0 0 1 0 0 SDR9C7 121214 broad.mit.edu 37 12 57324215 57324215 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:57324215C>T uc010sqw.2 - 1 499 c.355G>A c.(355-357)Gaa>Aaa p.E119K NM_148897 NP_683695 Q8NEX9 DR9C7_HUMAN Homo sapiens short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7), mRNA. 119 cytoplasm binding|oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1) 7 GTCAGCCATTCGTTGGGACCA 0.557000 30 8 0 0 1 0 0 BCO2 83875 broad.mit.edu 37 11 112070449 112070449 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:112070449C>T uc001pnf.3 + 5 881 c.764C>T c.(763-765)cCt>cTt p.P255L BCO2_uc001pne.1_Missense_Mutation_p.P82L|BCO2_uc001png.3_Missense_Mutation_p.P182L|BCO2_uc001pnh.3_Missense_Mutation_p.P221L|BCO2_uc010rwt.2_Missense_Mutation_p.P150L|BCO2_uc009yyn.3_Missense_Mutation_p.P221L|BCO2_uc001pni.3_Missense_Mutation_p.P221L NM_031938 NP_001032367 Q9BYV7 BCDO2_HUMAN Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA. 255 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 ATTCGGGTTCCTCCAGAGAAG 0.403000 48 7 0 0 1 0 0 IQCK 124152 broad.mit.edu 37 16 19746703 19746703 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:19746703C>T uc002dgr.3 + 4 1104 c.405C>T c.(403-405)ttC>ttT p.F135F IQCK_uc002dgs.3_Non-coding_Transcript|IQCK_uc010vat.2_Silent_p.F135F|IQCK_uc010bwc.3_Intron|IQCK_uc010vau.2_Silent_p.F47F NM_153208 NP_694940 Q8N0W5 IQCK_HUMAN Homo sapiens IQ motif containing K (IQCK), mRNA. 135 kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 TGGAAACTTTCATCTTTCCTG 0.418000 27 4 0 0 1 0 0 FLVCR1 28982 broad.mit.edu 37 1 213046070 213046070 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:213046070C>T uc001hjt.3 + 2 1132 c.934C>T c.(934-936)Caa>Taa p.Q312* NM_014053 NP_054772 Q9Y5Y0 FLVC1_HUMAN Homo sapiens feline leukemia virus subgroup C cellular receptor 1 (FLVCR1), mRNA. 312 cell death|cellular iron ion homeostasis|heme export|transmembrane transport integral to plasma membrane heme transporter activity|protein binding|receptor activity p.Q312Q(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) AGCAGCTCTTCAAGACAGTCC 0.353000 25 5 0 0 1 0 0 GFER 2671 broad.mit.edu 37 16 2035946 2035946 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:2035946C>A uc002cob.3 + 2 605 c.535C>A c.(535-537)Cgc>Agc p.R179S TCRBV20S1_uc021tak.1_Intron|GFER_uc002coc.3_Missense_Mutation_p.R104S NM_005262 NP_005253 P55789 ALR_HUMAN Homo sapiens growth factor, augmenter of liver regeneration (GFER), mRNA. 179 ERV/ALR sulfhydryl oxidase. cell proliferation|spermatogenesis extracellular region|mitochondrial intermembrane space growth factor activity|thiol oxidase activity endometrium(1)|large_intestine(1)|lung(3) 5 TGAAGTGAACCGCAAGCTGGG 0.602000 67 6 0.00198382 0.00200053 1 1 0 HFE2 148738 broad.mit.edu 37 1 145415583 145415583 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:145415583C>T uc001eni.2 + 2 727 c.402C>T c.(400-402)gcC>gcT p.A134A HFE2_uc001enk.2_Silent_p.A21A|HFE2_uc001enj.2_Intron|HFE2_uc001enl.2_Intron|HFE2_uc021oux.1_5'Flank NM_213653 NP_660320 Q6ZVN8 RGMC_HUMAN Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA. 134 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ggggccccgcccTTCCAGGCG 0.687000 20 6 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12124321 12124321 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:12124321G>A uc003nac.3 + 3 4472 c.4293G>A c.(4291-4293)cgG>cgA p.R1431R HIVEP1_uc011diq.2_Non-coding_Transcript NM_002114 NP_002105 P15822 ZEP1_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA. 1431 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CACTGGTACGGCAAATATCTT 0.478000 34 10 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31905101 31905101 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31905101G>A uc011dor.2 + 4 799 c.535G>A c.(535-537)Gaa>Aaa p.E179K CFB_uc003nyc.2_Missense_Mutation_p.E119K|CFB_uc011doo.2_Missense_Mutation_p.E86K|CFB_uc011dop.2_Missense_Mutation_p.E118K|CFB_uc003nyf.3_Missense_Mutation_p.E332K|CFB_uc010jtk.3_Missense_Mutation_p.E200K|CFB_uc011doq.2_Missense_Mutation_p.E303K|CFB_uc003nyh.2_5'UTR NM_001710 NP_001701 P00751 CFAB_HUMAN Homo sapiens complement factor B (CFB), mRNA. 348 Sushi 3. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 TCCAGATCATGAAAATGGAAC 0.463000 254 18 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197664273 197664273 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:197664273G>A uc002uts.3 - 0 220 c.63C>T c.(61-63)ttC>ttT p.F21F GTF3C3_uc010zgu.2_Silent_p.F21F|GTF3C3_uc002utu.3_Silent_p.F21F NM_012086 NP_036218 Q9Y5Q9 TF3C3_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA. 21 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TCCGCCGTTCGAACTCCTCAA 0.532000 108 10 0 0 1 0 0 CPZ 8532 broad.mit.edu 37 4 8621098 8621098 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:8621098G>A uc003glm.3 + 10 1887 c.1713G>A c.(1711-1713)atG>atA p.M571I CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.M560I|CPZ_uc003gln.3_Missense_Mutation_p.M434I NM_001014447 NP_001014448 Q66K79 CBPZ_HUMAN Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA. 571 Wnt receptor signaling pathway|proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CCGCCCGGATGAAGAGGGCTG 0.582000 29 7 0 0 1 0 0 SLC13A2 9058 broad.mit.edu 37 17 26818635 26818635 + Splice_Site SNP C T T rs139298501 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:26818635C>T uc010wan.2 + 5 969 c.902_splice c.e5+1 p.S301_splice SLC13A2_uc010wal.1_Splice_Site_p.S209_splice|SLC13A2_uc010wam.2_Splice_Site_p.S208_splice|SLC13A2_uc002hbh.3_Splice_Site_p.S252_splice|SLC13A2_uc010wao.2_Splice_Site_p.S209_splice|SLC13A2_uc002hbi.3_Splice_Site_p.S181_splice NM_001145975 NP_001139447 Q13183 S13A2_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA. 252 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) CAGATCAACTCGTGAGTGACA 0.632000 40 4 0 0 1 0 0 HTR5A 3361 broad.mit.edu 37 7 154876092 154876092 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:154876092C>T uc003wlu.1 + 1 1033 c.969C>T c.(967-969)ttC>ttT p.F323F NM_024012 NP_076917 P47898 5HT5A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA. 323 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) AAAGCATCTTCCTGTGGCTTG 0.507000 137 10 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142176316 142176316 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:142176316G>A uc003yvy.3 + 11 1619 c.1341G>A c.(1339-1341)agG>agA p.R447R DENND3_uc010mep.3_Silent_p.R408R|DENND3_uc003yvz.1_Silent_p.R131R NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 447 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TAAGTCCAAGGAGACCGACCG 0.478000 169 17 0 0 1 0 0 TELO2 9894 broad.mit.edu 37 16 1556245 1556245 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:1556245C>T uc002cly.3 + 16 2332 c.2041C>T c.(2041-2043)Ccg>Tcg p.P681S NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA. 681 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) GCAGGGTGGCCCGAGGCAGGG 0.652000 86 8 0 0 1 0 0 GSTA5 221357 broad.mit.edu 37 6 52696664 52696664 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:52696664C>T uc003pba.1 - 6 721 c.651G>A c.(649-651)agG>agA p.R217R NM_153699 NP_714543 Q7RTV2 GSTA5_HUMAN Homo sapiens glutathione S-transferase alpha 5 (GSTA5), mRNA. 217 glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Lung NSC(77;0.0912) Glutathione(DB00143) TGAAAATCTTCCTTGCTTCTT 0.438000 64 4 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115147576 115147576 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:115147576G>A uc001efd.1 - 10 2336 c.1634C>T c.(1633-1635)tCa>tTa p.S545L DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.S488L NM_198459 NP_940861 Q68D51 DEN2C_HUMAN Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA. 545 UDENN. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CCAGTCCTTTGAATCAGGAAA 0.353000 17 4 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179664453 179664453 + Silent SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:179664453A>G uc021vsy.1 - 5 900 c.675T>C c.(673-675)atT>atC p.I225I TTN_uc021vsz.1_Silent_p.I225I|TTN_uc021vta.1_Silent_p.I225I|TTN_uc021vtb.1_Silent_p.I225I|TTN_uc002unb.2_Silent_p.I225I|TTN_uc002und.3_Silent_p.I225I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 225 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTGGGCTTCAATCTTCTGTA 0.458000 42 9 0 0 1 0 0 ZNF532 55205 broad.mit.edu 37 18 56651250 56651250 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:56651250G>A uc010xeg.2 + 9 3655 c.3458G>A c.(3457-3459)aGg>aAg p.R1153K ZNF532_uc002lhp.3_Missense_Mutation_p.R1151K|ZNF532_uc002lho.3_Missense_Mutation_p.R1153K|ZNF532_uc002lhr.3_Missense_Mutation_p.R1151K|ZNF532_uc002lhs.3_Missense_Mutation_p.R1151K|ZNF532_uc010xeh.2_Missense_Mutation_p.R241K NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN Homo sapiens zinc finger protein 532 (ZNF532), mRNA. 1153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R1153M(2) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 CTGGAGTTCAGGCCTCCCCGA 0.488000 30 8 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47609046 47609046 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:47609046G>A uc001cqv.1 + 4 667 c.616G>A c.(616-618)Ggc>Agc p.G206S CYP4A22_uc009vyo.3_Missense_Mutation_p.G206S|CYP4A22_uc009vyp.3_Missense_Mutation_p.G206S NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA. 206 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CAGCCATCAGGGCAGCATCCA 0.577000 37 13 0 0 1 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44260065 44260065 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:44260065G>A uc010xcy.1 - 7 1747 c.1179C>T c.(1177-1179)ttC>ttT p.F393F ST8SIA5_uc002lci.1_Silent_p.F204F|ST8SIA5_uc002lcj.1_Silent_p.F357F|ST8SIA5_uc010xcz.1_Silent_p.F326F NM_013305 NP_037437 O15466 SIA8E_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA. 357 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 GCAAGTGCAGGAAGTTGAAGA 0.642000 73 4 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140769403 140769403 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140769403C>T uc003lkc.2 + 0 1952 c.1952C>T c.(1951-1953)cCa>cTa p.P651L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR NM_003736 NP_003727 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA. 655 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACAGCCACCACTCTCGGCC 0.692000 36 7 0 0 1 0 0 C11orf63 79864 broad.mit.edu 37 11 122756840 122756840 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:122756840A>G uc001pym.3 + 1 580 c.283A>G c.(283-285)Aaa>Gaa p.K95E C11orf63_uc001pyl.1_Missense_Mutation_p.K95E NM_024806 NP_079082 Q6NUN7 CK063_HUMAN Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA. 95 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) AGCAAGTGGAAAAGCAGCTCA 0.532000 57 6 0 0 1 0 0 ZNF16 7564 broad.mit.edu 37 8 146157162 146157162 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:146157162G>A uc003zet.3 - 3 1198 c.1011C>T c.(1009-1011)atC>atT p.I337I ZNF16_uc003zeu.3_Silent_p.I337I NM_001029976 NP_008889 P17020 ZNF16_HUMAN Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA. 337 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) TTTGATGTTGGATGAGGTTTG 0.478000 37 6 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 32209516 32209516 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:32209516C>T uc003tco.2 - 2 225 c.189G>A c.(187-189)ggG>ggA p.G63G NM_001191058 NP_001177987 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 3, mRNA. 0 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CCTTGACATTCCCTGTGAGCC 0.517000 39 8 0 0 1 0 0 HEATR6 63897 broad.mit.edu 37 17 58137347 58137347 + Silent SNP G A A rs61752323 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:58137347G>A uc002iyk.1 - 9 1544 c.1527C>T c.(1525-1527)tcC>tcT p.S509S HEATR6_uc010ddk.1_Silent_p.S48S|HEATR6_uc010wos.1_Silent_p.S341S NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA. 509 binding p.S509F(1) NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) CGATCATTACGGAGAAGGGGG 0.453000 96 23 0 0 1 0 0 NCF1C 654817 broad.mit.edu 37 7 74582391 74582391 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:74582391C>T uc003ubv.3 - 3 413 c.274G>A c.(274-276)Gac>Aac p.D92N NCF1C_uc011kfn.2_Missense_Mutation_p.D92N|NCF1C_uc011kfo.2_Missense_Mutation_p.D90N Homo sapiens neutrophil cytosolic factor 1C pseudogene (NCF1C), non-coding RNA. TTGAAGAAGTCAAGGAGGTGG 0.622000 18 8 0 0 1 0 0 SLC27A1 376497 broad.mit.edu 37 19 17612167 17612167 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:17612167G>A uc002ngu.1 + 10 1772 c.1722G>A c.(1720-1722)aaG>aaA p.K574K SLC27A1_uc010xpp.1_Silent_p.K395K|SLC27A1_uc002ngv.1_Silent_p.K176K NM_198580 NP_940982 Q6PCB7 S27A1_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA. 574 cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 AGCTGCAGAAGGTGCTGGCAC 0.642000 55 9 0 0 1 0 0 KRT13 3860 broad.mit.edu 37 17 39659624 39659624 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39659624T>C uc002hwu.1 - 2 713 c.650A>G c.(649-651)gAg>gGg p.E217G KRT13_uc002hwv.1_Missense_Mutation_p.E217G|KRT13_uc010wfr.2_Missense_Mutation_p.E110G|KRT13_uc010cxo.3_Missense_Mutation_p.E217G|KRT13_uc021txk.1_Missense_Mutation_p.E110G NM_153490 NP_705694 P13646 K1C13_HUMAN Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA. 217 Coil 1B.|Rod. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) CAGAGTGAGCTCATCCAGCAC 0.502000 89 5 0 0 1 0 0 CEACAM1 634 broad.mit.edu 37 19 43031474 43031474 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:43031474C>T uc002otv.3 - 1 278 c.143G>A c.(142-144)gGg>gAg p.G48E AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eij.3_Missense_Mutation_p.G48E|CEACAM1_uc002otw.3_Missense_Mutation_p.G48E|CEACAM1_uc002otx.3_Missense_Mutation_p.G48E|CEACAM1_uc002oty.3_Missense_Mutation_p.G48E|CEACAM1_uc002otz.3_Missense_Mutation_p.G48E|CEACAM1_uc010eik.3_Missense_Mutation_p.G48E|CEACAM1_uc002oua.3_Missense_Mutation_p.G48E|CEACAM1_uc002oub.3_Missense_Mutation_p.G48E|CEACAM1_uc002ouc.3_Missense_Mutation_p.G48E NM_001712 NP_001703 P13688 CEAM1_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA. 48 Ig-like V-type. angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) AACCTCCTTCCCCTCTGCAAC 0.517000 116 15 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11676356 11676356 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:11676356C>T uc021zzo.1 - 1 675 c.423G>A c.(421-423)gaG>gaA p.E141E THSD7A_uc021zzn.1_Silent_p.E141E NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA. 141 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CAAGAGGTTTCTCTAGGCTTT 0.463000 HNSCC(18;0.044) 45 4 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2058478 2058478 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:2058478G>A uc001qjx.1 - 7 1627 c.1547C>T c.(1546-1548)cCt>cTt p.P516L DCP1B_uc010sdy.1_Missense_Mutation_p.P414L NM_152640 NP_689853 Q8IZD4 DCP1B_HUMAN Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA. 516 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) TGCTGTAGCAGGGATGCGCTG 0.597000 40 7 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70333650 70333650 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:70333650C>T uc001jok.4 + 1 2060 c.1555C>T c.(1555-1557)Cct>Tct p.P519S NM_030625 NP_085128 Q8NFU7 TET1_HUMAN Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA. 519 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CCCATTAGCCCCTGAGAGAGG 0.483000 38 4 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55349300 55349300 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55349300C>T uc002qhm.1 + 2 386 c.340C>T c.(340-342)Ccc>Tcc p.P114S KIR3DL2_uc010yfj.2_Missense_Mutation_p.P107S|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.P114S|KIR3DL2_uc002qhn.1_Missense_Mutation_p.P61S NM_012314 NP_036446 P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA. 209 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) GTTGTCAGCTCCCAGTGACCC 0.512000 276 41 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32475575 32475575 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:32475575C>T uc002roi.3 - 3 1619 c.1358G>A c.(1357-1359)cGa>cAa p.R453Q NLRC4_uc021vfq.1_Missense_Mutation_p.R453Q|NLRC4_uc002roj.2_Missense_Mutation_p.R453Q|NLRC4_uc010ezt.2_Intron NM_001199138 NP_001186067 Q9NPP4 NLRC4_HUMAN Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA. 453 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity p.R453*(1)|p.R453Q(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GCTGAGTCTTCGTCCTGCTGT 0.448000 94 7 0 0 1 0 0 PADI1 29943 broad.mit.edu 37 1 17548825 17548826 + Missense_Mutation DNP AG TA TA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:17548825_17548826AG>TA uc001bah.1 + 1 225_226 c.133_134AG>TA c.(133-135)agc>TAc p.S45Y NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA. 45 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) GGTCTCTGGAAGCTCCGGGGTG 0.569000 78 27 0 0 1 0 0 OTOA 146183 broad.mit.edu 37 16 21728264 21728264 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:21728264G>A uc002djh.3 + 13 1526 c.1525G>A c.(1525-1527)Gag>Aag p.E509K LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.E430K|OTOA_uc002dji.3_Missense_Mutation_p.E185K|OTOA_uc010vbk.2_Missense_Mutation_p.E157K NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA. 523 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) AGGCATCGTGGAGATACAAGG 0.468000 85 11 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115079130 115079130 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:115079130G>A uc001eez.3 - 28 c.4513C>T NM_198459 Q68D51 DEN2C_HUMAN Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GAAGTGGGCAGCAAGATCTAC 0.493000 121 7 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219559031 219559031 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:219559031C>T uc002viu.3 + 19 2660 c.2381C>T c.(2380-2382)tCg>tTg p.S794L STK36_uc002viv.3_Missense_Mutation_p.S794L|STK36_uc002vix.3_5'Flank NM_015690 NP_056505 Q9NRP7 STK36_HUMAN Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA. 794 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) TTTACCCATTCGCATGTCGTC 0.468000 115 18 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123814091 123814091 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:123814091C>T uc010sab.2 - 0 455 c.455G>A c.(454-456)gGa>gAa p.G152E NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA. 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CCAGAGGAATCCAGCTAGCCA 0.562000 19 3 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15844140 15844140 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:15844140G>A uc002ddx.3 - 16 2041 c.1934C>T c.(1933-1935)tCg>tTg p.S645L MYH11_uc002ddv.3_Missense_Mutation_p.S645L|MYH11_uc002ddw.3_Missense_Mutation_p.S638L|MYH11_uc002ddy.3_Missense_Mutation_p.S638L|MYH11_uc010bvg.3_Missense_Mutation_p.S470L|MYH11_uc002dea.1_Missense_Mutation_p.S344L NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 638 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GCTGGGCAGCGAGCTCTCCGT 0.627000 T CBFB AML 29 4 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76780392 76780392 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:76780392C>T uc001jwn.1 + 13 3175 c.2682C>T c.(2680-2682)ctC>ctT p.L894L KAT6B_uc001jwm.1_Silent_p.L602L|KAT6B_uc001jwo.1_Silent_p.L602L|KAT6B_uc001jwp.1_Silent_p.L711L NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA. 894 Catalytic.|Interaction with BRPF1. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding AAAAGCCTCTCTCCGATCTGG 0.493000 22 3 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50678838 50678838 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:50678838G>A uc001jhs.4 - 17 3322 c.3168C>T c.(3166-3168)ttC>ttT p.F1056F ERCC6_uc009xod.3_Silent_p.F216F|ERCC6_uc010qgr.2_Silent_p.F426F|ERCC6_uc001jhr.4_Silent_p.F424F NM_000124 NP_000115 Q03468 ERCC6_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA. 1056 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TAGAAGCAGGGAACTTCTTGC 0.418000 Direct reversal of damage;Nucleotide excision repair (NER) 75 6 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95669758 95669758 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:95669758G>A uc001yef.2 - 8 2044 c.1928C>T c.(1927-1929)cCt>cTt p.P643L NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA. 643 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) TGGGGCTGAAGGACAGCCTTC 0.478000 72 7 0 0 1 0 0 GRK4 2868 broad.mit.edu 37 4 3037241 3037241 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:3037241C>T uc003ggn.1 + 12 1853 c.1398C>T c.(1396-1398)ttC>ttT p.F466F GRK4_uc003ggo.1_Silent_p.F466F|GRK4_uc003ggp.1_Silent_p.F434F|GRK4_uc003ggq.1_Silent_p.F434F NM_182982 NP_892027 P32298 GRK4_HUMAN Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA. 466 AGC-kinase C-terminal. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AGCCCCCTTTCTGTCCTGATG 0.557000 76 7 0 0 1 0 0 DPYSL4 10570 broad.mit.edu 37 10 134016237 134016237 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:134016237G>A uc009ybb.3 + 11 1523 c.1369G>A c.(1369-1371)Ggg>Agg p.G457R NM_006426 NP_006417 O14531 DPYL4_HUMAN Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA. 457 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) GCTGGAGGACGGGAAGATGTT 0.617000 94 9 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043636 20043636 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:20043636G>A uc002dgu.1 - 1 645 c.483C>T c.(481-483)atC>atT p.I161I GPR139_uc010vaw.1_Silent_p.I68I NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA. 161 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 AGTAATAGGGGATGCTGGTCA 0.547000 51 8 0 0 1 0 0 MORC2 22880 broad.mit.edu 37 22 31330939 31330939 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:31330939G>A uc003aje.1 - 19 3200 c.1836C>T c.(1834-1836)ccC>ccT p.P612P NM_014941 NP_055756 Q9Y6X9 MORC2_HUMAN Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA. 674 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 CAGGCTTTCGGGGTGCCTCAG 0.617000 63 6 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43601823 43601823 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:43601823G>A uc001jal.3 + 5 1058 c.868_splice c.e5-1 p.D290_splice RET_uc001jak.1_Splice_Site_p.D290_splice|RET_uc010qez.1_Splice_Site_p.D36_splice NM_020975 NP_066124 P07949 RET_HUMAN Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA. 290 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) GCATCCTGCAGGACACCGTGG 0.627000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 27 5 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17607261 17607261 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:17607261G>A uc001bai.3 + 14 1771 c.1731G>A c.(1729-1731)agG>agA p.R577R NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA. 577 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AGACCGAGAGGAAAAAAGCAA 0.542000 93 7 0 0 1 0 0 TSSC1 7260 broad.mit.edu 37 2 3197817 3197817 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:3197817G>A uc002qxj.2 - 6 967 c.774C>T c.(772-774)acC>acT p.T258T TSSC1_uc002qxi.2_Non-coding_Transcript NM_003310 NP_003301 Q53HC9 TSSC1_HUMAN Homo sapiens tumor suppressing subtransferable candidate 1 (TSSC1), mRNA. 258 protein binding breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 18 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.212) OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464) TGACATTTCGGGTGTCCCAGA 0.562000 73 11 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43612101 43612101 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:43612101G>A uc001jal.3 + 11 2396 c.2206G>A c.(2206-2208)Gga>Aga p.G736R RET_uc001jak.1_Missense_Mutation_p.G736R|RET_uc010qez.1_Missense_Mutation_p.G482R NM_020975 NP_066124 P07949 RET_HUMAN Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA. 736 Protein kinase. homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) AGGCGAATTTGGAAAAGTGGT 0.517000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 171 20 0 0 1 0 0 ELOVL4 6785 broad.mit.edu 37 6 80636063 80636063 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:80636063G>A uc003pja.4 - 1 455 c.136C>T c.(136-138)Cct>Tct p.P46S ELOVL4_uc011dyt.2_Intron NM_022726 NP_073563 Q9GZR5 ELOV4_HUMAN Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA. 46 fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) GTAGGCCAAGGAGACTGCATC 0.378000 11 5 0 0 1 0 0 ETV7 51513 broad.mit.edu 37 6 36343727 36343727 + Silent SNP C T T rs149881845 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:36343727C>T uc003omb.3 - 2 487 c.228G>A c.(226-228)gcG>gcA p.A76A ETV7_uc003olz.2_Silent_p.A76A|ETV7_uc003oma.2_Intron|ETV7_uc003omc.3_Intron|ETV7_uc010jwj.3_Missense_Mutation_p.G4R|ETV7_uc010jwi.3_Silent_p.A76A|ETV7_uc010jwh.3_5'UTR|ETV7_uc011dtl.2_Intron NM_016135 NP_001193970 Q9Y603 ETV7_HUMAN Homo sapiens ets variant 7 (ETV7), transcript variant 1, mRNA. 76 PNT. organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 ACCCGTGCTCCGCGGTGCATG 0.652000 53 6 0 0 1 0 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047129 46047129 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:46047129C>T uc002zfp.4 + 0 90 c.41C>T c.(40-42)tCc>tTc p.S14F TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198690 NP_941963 P60411 KR109_HUMAN Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA. 14 keratin filament endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 AGCGCTTACTCCGACTCCTGG 0.677000 71 4 0 0 1 0 0 CAMK1D 57118 broad.mit.edu 37 10 12858259 12858259 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:12858259C>T uc001ilo.3 + 7 1000 c.765C>T c.(763-765)ttC>ttT p.F255F CAMK1D_uc001iln.3_Silent_p.F255F NM_153498 NP_705718 Q8IU85 KCC1D_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA. 255 Protein kinase. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) CAAAAGACTTCATTCGGAACC 0.507000 158 36 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97821733 97821733 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:97821733C>T uc003upd.2 + 10 2249 c.1956C>T c.(1954-1956)ttC>ttT p.F652F NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA. 652 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) AAAAAATATTCGACTTAATGG 0.433000 54 15 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31301954 31301954 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:31301954G>A uc003aiy.1 + 12 2610 c.2506G>A c.(2506-2508)Gag>Aag p.E836K OSBP2_uc011ala.1_Missense_Mutation_p.E670K|OSBP2_uc010gwc.1_Missense_Mutation_p.E663K|OSBP2_uc011alb.1_Missense_Mutation_p.E787K|OSBP2_uc003aiz.1_Missense_Mutation_p.E835K|OSBP2_uc003aja.1_Missense_Mutation_p.E469K|OSBP2_uc011alc.2_Missense_Mutation_p.E578K|OSBP2_uc011ald.1_Missense_Mutation_p.E380K|OSBP2_uc010gwd.1_Missense_Mutation_p.R319Q NM_030758 NP_110385 Q969R2 OSBP2_HUMAN Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA. 836 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 CCGTTGGGACGAGGCCAATAC 0.716000 18 7 0 0 1 0 0 DEFB136 613210 broad.mit.edu 37 8 11831592 11831592 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:11831592G>A uc011kxm.2 - 1 91 c.91C>T c.(91-93)Cgc>Tgc p.R31C NM_001033018 NP_001028190 Q30KP8 DB136_HUMAN Homo sapiens defensin, beta 136 (DEFB136), mRNA. 31 defense response to bacterium extracellular region endometrium(2)|large_intestine(1)|lung(4) 7 STAD - Stomach adenocarcinoma(15;0.033) COAD - Colon adenocarcinoma(149;0.163) GTGCAGGTGCGAACTTTGACT 0.458000 144 9 0 0 1 0 0 UGT2B15 7366 broad.mit.edu 37 4 69535661 69535661 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:69535661G>A uc021xow.1 - 0 834 c.676C>T c.(676-678)Caa>Taa p.Q226* NM_001076 NP_001067 P54855 UDB15_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA. 226 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity TCATAAATTTGAAACCAAAAG 0.318000 27 5 0 0 1 0 0 LARP4 113251 broad.mit.edu 37 12 50854977 50854977 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:50854977C>T uc001rwp.2 + 10 1383 c.1181C>T c.(1180-1182)tCc>tTc p.S394F LARP4_uc001rwq.2_Missense_Mutation_p.S323F|LARP4_uc001rwt.2_Intron|LARP4_uc001rws.2_Missense_Mutation_p.S393F|LARP4_uc001rwr.2_Intron|LARP4_uc021qxv.1_Missense_Mutation_p.S324F|LARP4_uc009zlr.1_Missense_Mutation_p.S213F|LARP4_uc001rwm.3_Missense_Mutation_p.S394F|LARP4_uc001rwn.3_Missense_Mutation_p.S324F NM_052879 NP_443111 Q71RC2 LARP4_HUMAN Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA. 394 RNA binding|nucleotide binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 GGCTCTGTATCCTTGGGGGAT 0.438000 68 8 0 0 1 0 0 CST6 1474 broad.mit.edu 37 11 65780393 65780393 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:65780393T>C uc001ogr.3 + 1 391 c.337T>C c.(337-339)Tgc>Cgc p.C113R CST6_uc001ogs.1_Missense_Mutation_p.C23R NM_001323 NP_001314 Q15828 CYTM_HUMAN Homo sapiens cystatin E/M (CST6), mRNA. 113 anatomical structure morphogenesis extracellular region cysteine-type endopeptidase inhibitor activity large_intestine(1)|lung(1)|ovary(1) 3 CCTCACCACTTGCCCCCTGGC 0.642000 40 4 0 0 1 0 0 SCG2 7857 broad.mit.edu 37 2 224462877 224462877 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:224462877G>A uc021vxk.1 - 0 1124 c.1124C>T c.(1123-1125)cCg>cTg p.P375L SCG2_uc002vnm.3_Missense_Mutation_p.P375L NM_003469 NP_003460 P13521 SCG2_HUMAN Homo sapiens secretogranin II (SCG2), mRNA. 375 MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity p.P375L(2)|p.K374Q(1) NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) TGATCCATTCGGCTTCTCCCC 0.458000 43 14 0 0 1 0 0 PAPL 390928 broad.mit.edu 37 19 39589264 39589264 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:39589264C>T uc002oki.3 + 2 562 c.288C>T c.(286-288)gtC>gtT p.V96V PAPL_uc010egl.3_Silent_p.V96V NM_001004318 NP_001004318 Q6ZNF0 PAPL_HUMAN Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA. 96 extracellular region acid phosphatase activity|metal ion binding TACACCGAGTCACGCTTCGCA 0.647000 52 5 0 0 1 0 0 KRT71 112802 broad.mit.edu 37 12 52938396 52938396 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:52938396G>A uc001sao.3 - 8 1562 c.1492C>T c.(1492-1494)Cgg>Tgg p.R498W NM_033448 NP_258259 Q3SY84 K2C71_HUMAN Homo sapiens keratin 71 (KRT71), mRNA. 498 Tail. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) GCACTGCCCCGGCTCCTGCCC 0.622000 111 7 0 0 1 0 0 CLDN14 23562 broad.mit.edu 37 21 37833374 37833374 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:37833374G>A uc021wja.1 - 0 620 c.620C>T c.(619-621)aCc>aTc p.T207I CLDN14_uc002yvn.1_Missense_Mutation_p.T207I|CLDN14_uc002yvo.1_Missense_Mutation_p.T207I|CLDN14_uc002yvk.1_Missense_Mutation_p.T207I|CLDN14_uc002yvl.1_Missense_Mutation_p.T207I|CLDN14_uc002yvm.1_Missense_Mutation_p.T207I NM_144492 NP_652763 O95500 CLD14_HUMAN Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA. 207 calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|lung(5)|skin(1) 7 GGCAGGTGCGGTGTTTGCAGT 0.647000 89 5 0 0 1 0 0 CRYBA4 1413 broad.mit.edu 37 22 27019208 27019208 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:27019208G>A uc003acz.4 + 2 85 c.50G>A c.(49-51)tGg>tAg p.W17* NM_001886 NP_001877 P53673 CRBA4_HUMAN Homo sapiens crystallin, beta A4 (CRYBA4), mRNA. 17 Beta/gamma crystallin 'Greek key' 1. camera-type eye development|visual perception soluble fraction structural constituent of eye lens large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 ATGGTGGTGTGGGATGAGGAC 0.602000 124 8 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938602 2938602 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:2938602G>A uc001ajz.3 + 0 557 c.352G>A c.(352-354)Gag>Aag p.E118K NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN Homo sapiens actin-related protein T2 (ACTRT2), mRNA. 118 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) GAACCCCAGGGAGAACCGTGA 0.607000 72 4 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70342949 70342949 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:70342949C>T uc004dyy.3 + 10 1689 c.1490C>T c.(1489-1491)tCc>tTc p.S497F MED12_uc011mpq.1_Missense_Mutation_p.S497F|MED12_uc004dyz.3_Missense_Mutation_p.S497F|MED12_uc004dza.3_Missense_Mutation_p.S344F|MED12_uc022byq.1_5'Flank NM_005120 NP_005111 Q93074 MED12_HUMAN Homo sapiens mediator complex subunit 12 (MED12), mRNA. 497 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CTCCAGATCTCCTCAGATGAT 0.488000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 70 23 0 0 1 0 0 EPHA2 1969 broad.mit.edu 37 1 16475411 16475411 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:16475411G>A uc001aya.2 - 2 440 c.285C>T c.(283-285)ttC>ttT p.F95F EPHA2_uc010oca.2_Silent_p.F95F NM_004431 NP_004422 P29317 EPHA2_HUMAN Homo sapiens EPH receptor A2 (EPHA2), mRNA. 95 IFIELK -> NNFELN (in Ref. 1; AAA53375). activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) TGAGCTCAATGAAGATACGCT 0.557000 74 11 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50780109 50780109 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:50780109C>T uc021vhh.1 - 7 2296 c.1375G>A c.(1375-1377)Gga>Aga p.G459R NRXN1_uc002rxb.4_Missense_Mutation_p.G131R|NRXN1_uc021vhg.1_Missense_Mutation_p.G499R|NRXN1_uc021vhi.1_Missense_Mutation_p.G495R|NRXN1_uc021vhj.1_Missense_Mutation_p.G455R|NRXN1_uc002rxc.1_Non-coding_Transcript NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 459 Laminin G-like 2. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TTAGGATCTCCTTGCTTGGCA 0.408000 100 4 0 0 1 0 0 PRDM10 56980 broad.mit.edu 37 11 129784872 129784872 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:129784872G>A uc001qfm.3 - 17 2812 c.2580C>T c.(2578-2580)ttC>ttT p.F860F PRDM10_uc001qfj.3_Silent_p.F774F|PRDM10_uc001qfk.3_Silent_p.F770F|PRDM10_uc001qfl.3_Silent_p.F774F|PRDM10_uc010sbx.2_Silent_p.F770F|PRDM10_uc001qfn.3_Silent_p.F856F|PRDM10_uc009zcs.1_Silent_p.F43F NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA. 860 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F856F(1) breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) AGAGCTGGGCGAACTCTGGAT 0.468000 84 7 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109795158 109795158 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:109795158C>T uc001dxa.4 + 0 2518 c.2457C>T c.(2455-2457)tcC>tcT p.S819S NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA. 819 Cadherin 7. Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TGCGAGACTCCTACCAGGGCA 0.547000 503 28 0 0 1 0 0 SEC22B 9554 broad.mit.edu 37 1 145115873 145115873 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:145115873G>A uc001eml.1 + 5 769 c.629G>A c.(628-630)cGa>cAa p.R210Q NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron NM_004892 NP_004883 O75396 SC22B_HUMAN Homo sapiens SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) (SEC22B), mRNA. 211 ER to Golgi vesicle-mediated transport|protein transport ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane|melanosome protein binding GTGTATGTCCGATTCTGGTGG 0.413000 84 6 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149521723 149521723 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:149521723G>A uc010lpk.3 + 94 13793 c.13793G>A c.(13792-13794)aGc>aAc p.S4598N SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 4601 cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCACCCCTCAGCCAGCAGCGC 0.697000 13 4 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48210901 48210901 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:48210901G>A uc002eff.1 - 23 3822 c.3472C>T c.(3472-3474)Ctt>Ttt p.L1158F ABCC11_uc002efg.1_Missense_Mutation_p.L1158F|ABCC11_uc002efh.1_Missense_Mutation_p.L1158F|ABCC11_uc010cbg.1_Non-coding_Transcript NM_033151 NP_149163 Q96J66 ABCCB_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA. 1158 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) ATGCCGTGAAGCACGGTGGGT 0.572000 17 5 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106791139 106791139 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:106791139C>T uc021ser.1 - 619 c.17253G>A Parts of antibodies, mostly variable regions. TTACTTCCATCATATGATATA 0.512000 214 9 0 0 1 0 0 HPR 3250 broad.mit.edu 37 16 72110765 72110765 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:72110765G>A uc002fby.3 + 4 862 c.832G>A c.(832-834)Gaa>Aaa p.E278K TXNL4B_uc010cgl.2_Intron NM_020995 NP_066275 P00739 HPTR_HUMAN Homo sapiens haptoglobin-related protein (HPR), mRNA. 278 Peptidase S1. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity p.N277H(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) CATACTGAACGAACACACCTT 0.552000 42 6 0 0 1 0 0 GIPR 2696 broad.mit.edu 37 19 46180351 46180351 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:46180351C>T uc002pcu.1 + 7 877 c.778C>T c.(778-780)Ctg>Ttg p.L260L GIPR_uc002pct.1_Silent_p.L260L|GIPR_uc010xxp.1_Silent_p.L224L|GIPR_uc010xxq.1_Non-coding_Transcript|MIR642B_uc021uvy.1_5'Flank NM_000164 NP_000155 P48546 GIPR_HUMAN Homo sapiens gastric inhibitory polypeptide receptor (GIPR), mRNA. 260 generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane p.L260L(2) endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 12 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) CCGCTACTACCTGCTCCTCGG 0.692000 52 4 0 0 1 0 0 CD6 923 broad.mit.edu 37 11 60777154 60777154 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:60777154G>A uc001nqq.3 + 4 1117 c.892G>A c.(892-894)Gag>Aag p.E298K CD6_uc009yni.3_Intron|CD6_uc009ynj.3_Intron|CD6_uc001nqp.3_Missense_Mutation_p.E298K|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.E298K|CD6_uc001nqt.3_Missense_Mutation_p.E298K NM_006725 NP_006716 P30203 CD6_HUMAN Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA. 298 SRCR 3. cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 GTACCCATCGGAGGCCAAGGT 0.632000 51 4 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66460820 66460820 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:66460820G>A uc001ojd.3 - 22 4763 c.4691C>T c.(4690-4692)gCt>gTt p.A1564V NM_006946 NP_008877 O15020 SPTN2_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA. 1564 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CTGCAGCTCAGCCAGCTCTGG 0.637000 42 9 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234847723 234847723 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:234847723C>T uc002vvh.3 + 4 470 c.430C>T c.(430-432)Ctg>Ttg p.L144L TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Silent_p.L94L|TRPM8_uc002vvj.3_Silent_p.L67L NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA. 144 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) AACACCCAACCTGGTCATTTC 0.567000 91 6 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62300355 62300355 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:62300355G>A uc001ntl.3 - 4 1834 c.1534C>T c.(1534-1536)Cct>Tct p.P512S AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 512 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTCAGTTTAGGAGACCCAAGG 0.448000 114 5 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24507679 24507679 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:24507679G>A uc002rfe.2 - 16 2155 c.1897C>T c.(1897-1899)Ctt>Ttt p.L633F ITSN2_uc002rff.2_Intron|ITSN2_uc002rfg.3_Missense_Mutation_p.L633F NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA. 633 endocytosis|regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGAGACAAAAGGCACTGAAGA 0.313000 48 4 0 0 1 0 0 CRYBA4 1413 broad.mit.edu 37 22 27024363 27024363 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:27024363G>A uc003acz.4 + 4 447 c.412G>A c.(412-414)Gaa>Aaa p.E138K NM_001886 NP_001877 P53673 CRBA4_HUMAN Homo sapiens crystallin, beta A4 (CRYBA4), mRNA. 138 Beta/gamma crystallin 'Greek key' 3. camera-type eye development|visual perception soluble fraction structural constituent of eye lens large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 GGAAGGCAATGAAGTAGGGTC 0.562000 70 5 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46826469 46826469 + Silent SNP G A A rs151037028 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:46826469G>A uc003oyo.3 - 16 3460 c.3171C>T c.(3169-3171)atC>atT p.I1057I GPR116_uc011dwj.1_Silent_p.I612I|GPR116_uc011dwk.1_Silent_p.I486I|GPR116_uc003oyp.3_Silent_p.I915I|GPR116_uc003oyq.3_Silent_p.I1057I|GPR116_uc010jzi.1_Silent_p.I729I NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 1057 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.I1057I(4) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) GGGAGGCAGCGATATTCACTA 0.537000 50 5 0 0 1 0 0 CPT1C 126129 broad.mit.edu 37 19 50212045 50212045 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:50212045G>A uc010eng.3 + 13 1831 c.1515G>A c.(1513-1515)ccG>ccA p.P505P CPT1C_uc002ppl.4_Silent_p.P471P|CPT1C_uc002ppi.3_Silent_p.P422P|CPT1C_uc002ppk.3_Silent_p.P494P|CPT1C_uc010enh.3_Silent_p.P505P|CPT1C_uc002ppj.3_Silent_p.P505P|CPT1C_uc010ybc.1_Silent_p.P376P|CPT1C_uc010eni.1_Silent_p.P162P NM_001199753 NP_001186682 Q8TCG5 CPT1C_HUMAN Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA. 505 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity p.P505P(2) breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) AGGGGCACCCGGACCCCACAC 0.597000 90 12 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317817 30317817 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:30317817G>A uc009xle.2 - 2 1397 c.1260C>T c.(1258-1260)ttC>ttT p.F420F KIAA1462_uc001iux.3_Silent_p.F420F|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.F282F NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 420 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TGTACTGAACGAAGCCGTCAT 0.522000 97 6 0 0 1 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25258227 25258227 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:25258227G>A uc002dod.4 - 4 1697 c.1290C>T c.(1288-1290)gcC>gcT p.A430A ZKSCAN2_uc010vcl.2_Silent_p.A226A|ZKSCAN2_uc002doe.2_Silent_p.A430A NM_001012981 NP_001012999 Q63HK3 ZKSC2_HUMAN Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA. 430 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) ACGGAGCACGGGCTGCAGGGT 0.498000 47 5 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70917972 70917972 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:70917972C>T uc021vjc.1 - 7 1060 c.795G>A c.(793-795)atG>atA p.M265I ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.M265I|ADD2_uc002sgz.3_Missense_Mutation_p.M265I|ADD2_uc010fdt.2_Missense_Mutation_p.M265I|ADD2_uc002shc.2_Missense_Mutation_p.M265I|ADD2_uc010fdu.2_Missense_Mutation_p.M281I NM_001185054 NP_001608 P35612 ADDB_HUMAN Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA. 265 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding F-actin capping protein complex|cytoplasm|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 CTTCCTGCTCCATTTCCCCAT 0.537000 70 17 0 0 1 0 0 DNAJB7 150353 broad.mit.edu 37 22 41257367 41257367 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:41257367C>T uc003azj.3 - 0 764 c.632G>A c.(631-633)aGa>aAa p.R211K XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_Intron|XPNPEP3_uc003azg.2_Intron|XPNPEP3_uc010gyh.1_5'Flank NM_145174 NP_660157 Q7Z6W7 DNJB7_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA. 211 protein folding heat shock protein binding|unfolded protein binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 TTCAGCTTCTCTTTCTTGATC 0.348000 65 6 0 0 1 0 0 ITGAE 3682 broad.mit.edu 37 17 3661086 3661086 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:3661086C>T uc002fwo.4 - 8 1033 c.934G>A c.(934-936)Gat>Aat p.D312N NM_002208 NP_002199 P38570 ITAE_HUMAN Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA. 312 VWFA. cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) ATGCCACCATCGGTGAGCACC 0.537000 174 12 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42798663 42798663 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:42798663C>T uc003cly.4 - 2 349 c.265G>A c.(265-267)Gaa>Aaa p.E89K CCDC13_uc003clz.2_Missense_Mutation_p.E89K|CCDC13_uc011azq.1_Missense_Mutation_p.E89K NM_144719 NP_653320 Q8IYE1 CCD13_HUMAN Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA. 89 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 TCCACCGTTTCCCTGAGCTCA 0.473000 112 6 0 0 1 0 0 IGFL3 388555 broad.mit.edu 37 19 46623587 46623587 + Nonstop_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:46623587T>A uc002pea.1 - 3 403 c.378A>T c.(376-378)taA>taT p.*126Y NM_207393 NP_997276 Q6UXB1 IGFL3_HUMAN Homo sapiens IGF-like family member 3 (IGFL3), mRNA. 0 extracellular region protein binding endometrium(1)|large_intestine(1)|lung(5) 7 Ovarian(192;0.0175)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239) cctggggtttttatgggtaca 0.478000 41 7 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562585 140562585 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140562585G>A uc003liv.3 + 0 1606 c.451G>A c.(451-453)Gag>Aag p.E151K NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN Homo sapiens protocadherin beta 16 (PCDHB16), mRNA. 151 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTAGGAACTGAGTTCCCTCT 0.403000 25 4 0 0 1 0 0 TBXAS1 6916 broad.mit.edu 37 7 139661795 139661795 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:139661795C>T uc011kqv.2 + 9 1273 c.1038C>T c.(1036-1038)atC>atT p.I346I TBXAS1_uc003vvh.3_Silent_p.I300I|TBXAS1_uc010lne.3_Silent_p.I232I|TBXAS1_uc011kqu.2_Silent_p.I251I|TBXAS1_uc003vvi.3_Silent_p.I300I|TBXAS1_uc011kqw.2_Silent_p.I280I|TBXAS1_uc003vvj.3_Silent_p.I300I NM_001166253 NP_001159725 P24557 THAS_HUMAN Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA. 299 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) ACTTTGACATCGTCAGAGACG 0.537000 30 4 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56382511 56382511 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:56382511C>T uc002ivx.4 - 29 6326 c.5455G>A c.(5455-5457)Ggc>Agc p.G1819S BZRAP1_uc002ivv.3_Missense_Mutation_p.G49S|BZRAP1_uc002ivw.3_Missense_Mutation_p.G51S|BZRAP1_uc010dcs.3_Missense_Mutation_p.G1759S|BZRAP1_uc010wnt.2_Missense_Mutation_p.G1810S NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1819 SH3 3. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGAACCAGGCCCCTTTGTCCA 0.622000 44 7 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5208026 5208026 + Silent SNP G A A rs138437349 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:5208026G>A uc002mbv.3 - 36 5919 c.5685C>T c.(5683-5685)atC>atT p.I1895I PTPRS_uc002mbu.1_Silent_p.I1464I|PTPRS_uc010xin.2_Silent_p.I1437I|PTPRS_uc002mbw.3_Silent_p.I1857I|PTPRS_uc002mbx.3_Silent_p.I1452I|PTPRS_uc002mby.3_Silent_p.I1448I NM_002850 NP_002841 Q13332 PTPRS_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA. 1895 Tyrosine-protein phosphatase 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GCTCCAGCACGATGCTAAGCG 0.602000 39 12 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97833005 97833005 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:97833005C>T uc003upd.2 + 11 4520 c.4227C>T c.(4225-4227)tcC>tcT p.S1409S NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA. 1409 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CCGAAAGCTCCACCGACGAAG 0.522000 21 6 0 0 1 0 0 ZNF645 158506 broad.mit.edu 37 X 22291289 22291289 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:22291289G>A uc004dai.2 + 0 260 c.181G>A c.(181-183)Gat>Aat p.D61N NM_152577 NP_689790 Q8N7E2 ZN645_HUMAN Homo sapiens zinc finger protein 645 (ZNF645), mRNA. 61 intracellular zinc ion binding cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 TGACAAATGTGATTTGCCTAT 0.348000 19 4 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9077304 9077304 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9077304G>A uc002mkp.3 - 2 10346 c.10142C>T c.(10141-10143)tCa>tTa p.S3381L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3382 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATCTGTCAATGAGCTCACAGA 0.473000 95 9 0 0 1 0 0 LRRC32 2615 broad.mit.edu 37 11 76370750 76370750 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:76370750G>A uc001oxq.4 - 2 2130 c.1887C>T c.(1885-1887)atC>atT p.I629I LRRC32_uc001oxr.4_Silent_p.I629I|LRRC32_uc010rsf.2_Silent_p.I615I NM_005512 NP_005503 Q14392 LRC32_HUMAN Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA. 629 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 TGAGGATGATGATGAGGTTGA 0.577000 108 9 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50346491 50346491 + Missense_Mutation SNP C T T rs142435125 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:50346491C>T uc002xwg.1 - 1 95 c.95G>A c.(94-96)gGt>gAt p.G32D ATP9A_uc010gih.1_Missense_Mutation_p.G17D NM_006045 NP_006036 O75110 ATP9A_HUMAN Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA. 32 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CTCCCCTCCACCGCAGCATCT 0.597000 111 18 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059060 248059060 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:248059060C>T uc010pzb.2 + 0 172 c.172C>T c.(172-174)Ccc>Tcc p.P58S OR2W3_uc001idp.1_Missense_Mutation_p.P58S NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA. 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCTCCACACCCCCATGTACTT 0.572000 127 15 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10209806 10209806 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:10209806C>T uc002gmk.1 - 36 5526 c.5436G>A c.(5434-5436)ggG>ggA p.G1812G NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 1812 muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TCTGCTTCTTCCCGCCCTTCA 0.552000 156 14 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23900866 23900866 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:23900866G>A uc001wjx.3 - 7 766 c.660C>T c.(658-660)atC>atT p.I220I NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 220 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGGCCTGGATGATCTGGTCCT 0.627000 93 5 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9388636 9388636 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:9388636C>T uc021wam.1 + 17 1699 c.1684C>T c.(1684-1686)Cat>Tat p.H562Y PLCB4_uc010gbw.1_Missense_Mutation_p.H562Y|PLCB4_uc010gbx.3_Missense_Mutation_p.H574Y|PLCB4_uc021wal.1_Missense_Mutation_p.H562Y|PLCB4_uc002wnh.3_Missense_Mutation_p.H409Y NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 562 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CACTAATATCCATCCATATTT 0.428000 51 12 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42045703 42045703 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:42045703G>A uc001cgz.4 - 3 5979 c.4766C>T c.(4765-4767)tCa>tTa p.S1589L HIVEP3_uc001cha.4_Missense_Mutation_p.S1589L|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 1589 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TACCTTCTTTGAGTCCGTACC 0.502000 164 42 0 0 1 0 0 STK32C 282974 broad.mit.edu 37 10 134059437 134059437 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:134059437G>A uc010quu.1 - 1 440 c.324C>T c.(322-324)atC>atT p.I108I STK32C_uc001lld.1_5'UTR|STK32C_uc001lle.1_Silent_p.I95I|STK32C_uc009ybc.1_5'UTR|STK32C_uc009ybd.1_5'UTR|STK32C_uc001llc.1_Non-coding_Transcript NM_173575 NP_775846 Q86UX6 ST32C_HUMAN Homo sapiens serine/threonine kinase 32C (STK32C), mRNA. 95 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1) 23 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) TGGCCCGAAGGATCTGGAAGT 0.627000 54 13 0 0 1 0 0 LYN 4067 broad.mit.edu 37 8 56882295 56882295 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:56882295G>A uc003xsk.4 + 9 1275 c.993G>A c.(991-993)ctG>ctA p.L331L LYN_uc003xsl.4_Silent_p.L310L NM_002350 NP_002341 P07948 LYN_HUMAN Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA. 331 Protein kinase. T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) TGGATTTCCTGAAGAGCGATG 0.403000 86 8 0 0 1 0 0 HFE 3077 broad.mit.edu 37 6 26091134 26091134 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:26091134G>A uc003nfx.1 + 1 302 c.142G>A c.(142-144)Gaa>Aaa p.E48K HFE_uc003nfy.1_Intron|HFE_uc010jqe.1_Missense_Mutation_p.E48K|HFE_uc003nfz.1_Intron|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Missense_Mutation_p.E48K|HFE_uc003ngb.1_Missense_Mutation_p.E48K|HFE_uc003ngc.1_Missense_Mutation_p.E48K|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron|HFE_uc021yms.1_5'Flank NM_000410 NP_000401 Q30201 HFE_HUMAN Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA. 48 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis MHC class I protein complex|apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|perinuclear region of cytoplasm|recycling endosome protein binding endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TTCCTTGTTTGAAGCTTTGGG 0.512000 Hemochromatosis 95 5 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140266982 140266982 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:140266982C>T uc010lnk.3 - 8 2203 c.1683G>A c.(1681-1683)gaG>gaA p.E561E DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.E561E|DENND2A_uc003vvw.3_Silent_p.E561E|DENND2A_uc003vvx.3_Silent_p.E561E NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA. 561 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) AGAGCTGCCTCTCCTGGTACT 0.587000 27 8 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 619080 619080 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:619080C>T uc001lql.3 - 12 1746 c.1479G>A c.(1477-1479)acG>acA p.T493T CDHR5_uc001lqj.3_Silent_p.T493T|CDHR5_uc009ycd.3_Silent_p.T487T|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Silent_p.T327T NM_021924 NP_068743 Q9HBB8 CDHR5_HUMAN Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA. 493 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 CAGAGCTGGTCGTGGAGGGTC 0.677000 37 10 0 0 1 0 0 ASAP1 50807 broad.mit.edu 37 8 131104327 131104327 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:131104327G>A uc003yta.2 - 24 2692 c.2464C>T c.(2464-2466)Cta>Tta p.L822L ASAP1_uc003ysz.2_Silent_p.L633L|ASAP1_uc011liw.2_Silent_p.L815L NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA. 822 Pro-rich. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 TTCTTGGATAGGGTGGAGCTG 0.572000 99 10 0 0 1 0 0 CRLF2 64109 broad.mit.edu 37 X 1317531 1317531 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:1317531C>T uc004cpk.2 - 4 536 c.534G>A c.(532-534)gaG>gaA p.E178E CRLF2_uc022brt.1_Silent_p.E178E|CRLF2_uc004cpl.2_Silent_p.E66E|CRLF2_uc022brs.1_Silent_p.E178E NM_022148 NP_071431 Q9HC73 CRLF2_HUMAN Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA. 178 Fibronectin type-III. extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) AGTAACACTTCTCGGCATCCA 0.498000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 50 11 0 0 1 0 0 SKIV2L 6499 broad.mit.edu 37 6 31932086 31932086 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31932086C>T uc003nyn.1 + 16 2327 c.1938C>T c.(1936-1938)atC>atT p.I646I SKIV2L_uc011dou.1_Silent_p.I488I|SKIV2L_uc011dov.1_Silent_p.I453I NM_006929 NP_008860 Q15477 SKIV2_HUMAN Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA. 646 Helicase C-terminal. nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 TCAAGGAGATCGTGGAGATGC 0.617000 259 20 0 0 1 0 0 VWA7 80737 broad.mit.edu 37 6 31736868 31736868 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31736868C>T uc011dog.2 - 9 1668 c.1430G>A c.(1429-1431)gGa>gAa p.G477E VWA7_uc003nxd.2_Missense_Mutation_p.G152E|VWA7_uc011doh.1_Non-coding_Transcript NM_025258 NP_079534 Q9Y334 G7C_HUMAN Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA. 477 extracellular region GATCACCTCTCCTCCTGAGGC 0.572000 251 16 0 0 1 0 0 ACBD5 91452 broad.mit.edu 37 10 27499923 27499923 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:27499923G>A uc001itr.1 - 8 1111 c.391C>T c.(391-393)Cgt>Tgt p.R131C ACBD5_uc010qdm.2_Missense_Mutation_p.R340C|ACBD5_uc010qdn.2_Missense_Mutation_p.R233C|ACBD5_uc010qdo.2_Missense_Mutation_p.R165C|ACBD5_uc010qdp.2_Missense_Mutation_p.R342C|ACBD5_uc001ito.3_Missense_Mutation_p.R307C|ACBD5_uc001itp.3_Missense_Mutation_p.R233C|ACBD5_uc001itq.3_Missense_Mutation_p.R233C Q5T8D3 ACBD5_HUMAN Homo sapiens acyl-CoA binding domain containing 5 (ACBD5), transcript variant 3, non-coding RNA. 351 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding p.R307C(1) breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 ATATCTTCACGAAATCCAGAA 0.418000 88 20 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 116931443 116931443 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:116931443C>T uc011lxl.2 + 2 1608 c.1608C>T c.(1606-1608)ccC>ccT p.P536P COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Silent_p.P386P NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA. 536 Pro-rich. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GCAAGAAGCCCATTGGATCGG 0.632000 71 13 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123458800 123458800 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:123458800C>T uc003ego.3 - 6 704 c.422_splice c.e6+1 p.G141_splice MYLK_uc011bjw.2_Splice_Site_p.G141_splice|MYLK_uc003egp.3_Splice_Site_p.G141_splice|MYLK_uc003egq.3_Splice_Site_p.G141_splice|MYLK_uc003egr.3_Splice_Site_p.G141_splice|MYLK_uc003egs.3_Splice_Site|MYLK_uc010hrs.1_Splice_Site_p.G141_splice NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 141 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CAGGACTTACCCTAAGGTTTT 0.473000 149 21 0 0 1 0 0 LRRC25 126364 broad.mit.edu 37 19 18507060 18507060 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:18507060G>A uc002niw.3 - 0 1356 c.714C>T c.(712-714)tcC>tcT p.S238S LRRC25_uc002nix.3_Silent_p.S238S NM_145256 NP_660299 Q8N386 LRC25_HUMAN Homo sapiens leucine rich repeat containing 25 (LRRC25), mRNA. 238 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|skin(1) 8 AGTCGGGAGTGGAGGGGCAGG 0.632000 67 14 0 0 1 0 0 MANSC1 54682 broad.mit.edu 37 12 12483499 12483499 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:12483499G>A uc001rai.1 - 3 1016 c.758C>T c.(757-759)tCa>tTa p.S253L MANSC1_uc010shm.1_Missense_Mutation_p.S187L|MANSC1_uc001raj.1_Missense_Mutation_p.S219L NM_018050 NP_060520 Q9H8J5 MANS1_HUMAN Homo sapiens MANSC domain containing 1 (MANSC1), mRNA. 253 Thr-rich. integral to membrane breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4) 23 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) AGGTGTCACTGAAGCATTGGT 0.567000 45 5 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201460056 201460056 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:201460056G>A uc002uvx.3 + 2 266 c.165G>A c.(163-165)atG>atA p.M55I NM_001159 NP_001150 Q06278 ADO_HUMAN Homo sapiens aldehyde oxidase 1 (AOX1), mRNA. 55 2Fe-2S ferredoxin-type. inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GTACAGTGATGATATCACGAT 0.398000 17 7 0 0 1 0 0 OR7D4 125958 broad.mit.edu 37 19 9324757 9324757 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9324757C>T uc002mla.2 - 0 791 c.757G>A c.(757-759)Gga>Aga p.G253R NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA. 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 AGTCCTGTTCCATAGAACAAG 0.522000 26 4 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8181669 8181669 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:8181669C>T uc002mjf.3 - 27 3618 c.3601G>A c.(3601-3603)Gaa>Aaa p.E1201K NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 1201 EGF-like 17. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GGGTTCTCTTCACACTCGTCC 0.612000 58 10 0 0 1 0 0 RGL1 23179 broad.mit.edu 37 1 183871708 183871708 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:183871708C>T uc001gqm.3 + 12 1890 c.1429C>T c.(1429-1431)Ctg>Ttg p.L477L RGL1_uc010pof.1_Silent_p.L247L|RGL1_uc010pog.2_Silent_p.L440L|RGL1_uc010poh.2_Silent_p.L440L|RGL1_uc001gqo.3_Silent_p.L442L|RGL1_uc010poi.2_Silent_p.L413L NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA. 442 Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ral guanyl-nucleotide exchange factor activity|protein binding breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 TTAGGGTGGACTGATAAACTT 0.353000 19 8 0 0 1 0 0 DFNB59 494513 broad.mit.edu 37 2 179325827 179325827 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:179325827C>T uc002umi.4 + 6 1241 c.885C>T c.(883-885)atC>atT p.I295I MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Silent_p.I295I NM_001042702 NP_001036167 Q0ZLH3 PJVK_HUMAN Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA. 295 sensory perception of sound breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) GGACCCATATCCGAGTTAACT 0.408000 108 6 0 0 1 0 0 ADC 113451 broad.mit.edu 37 1 33558919 33558919 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:33558919C>T uc009vug.3 + 3 561 c.489C>T c.(487-489)tcC>tcT p.S163S ADC_uc001bwr.3_Silent_p.S163S|ADC_uc001bws.3_Silent_p.S163S|ADC_uc009vue.3_Silent_p.S163S|ADC_uc001bwt.1_Silent_p.S68S|ADC_uc001bwu.3_Silent_p.S68S|ADC_uc001bwv.3_Silent_p.S68S|ADC_uc001bwx.1_Silent_p.S140S|ADC_uc009vuf.1_Intron|ADC_uc001bwy.1_Silent_p.S12S|ADC_uc001bwz.1_Silent_p.S163S NM_052998 NP_443724 Q96A70 ADC_HUMAN Homo sapiens arginine decarboxylase (ADC), mRNA. 163 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) ACTCCCACTCCCTGAGCTGCC 0.557000 60 11 0 0 1 0 0 CACNB4 785 broad.mit.edu 37 2 152739783 152739783 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:152739783G>A uc002tya.3 - 2 317 c.249C>T c.(247-249)atC>atT p.I83I CACNB4_uc002txy.3_Silent_p.I49I|CACNB4_uc002txz.3_Silent_p.I65I|CACNB4_uc010fnz.3_Silent_p.I83I|CACNB4_uc021vre.1_Silent_p.I49I|CACNB4_uc002tyb.2_Silent_p.I49I NM_000726 NP_000717 O00305 CACB4_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA. 83 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) TCTCAAGCTGGATAGCTGCTT 0.517000 64 9 0 0 1 0 0 FLRT1 23769 broad.mit.edu 37 11 63885561 63885561 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:63885561G>A uc021qks.1 + 0 1822 c.1822G>A c.(1822-1824)Gat>Aat p.D608N MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.D608N NM_013280 NP_037412 Q9NZU1 FLRT1_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA. 580 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 GACCAAGAAGGATAACTCCAT 0.592000 60 5 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106083983 106083983 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:106083983G>A uc004emo.3 + 9 1753 c.1588G>A c.(1588-1590)Gaa>Aaa p.E530K MORC4_uc004emp.4_Intron|TBC1D8B_uc004emn.3_Missense_Mutation_p.E530K NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA. 530 Rab-GAP TBC. intracellular Rab GTPase activator activity|calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CTTGGCTACTGAAGAAATTGA 0.453000 21 6 0 0 1 0 0 ACSM5 54988 broad.mit.edu 37 16 20429402 20429402 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:20429402C>T uc002dhe.3 + 2 373 c.226C>T c.(226-228)Cct>Tct p.P76S ACSM5_uc002dhd.1_Missense_Mutation_p.P76S NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA. 76 fatty acid metabolic process mitochondrial matrix ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding p.P76T(2) breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 CCCCCCAAATCCTGCCTTCTG 0.493000 26 4 0 0 1 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135770135 135770135 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:135770135G>A uc004fab.3 - 10 1663 c.1201C>T c.(1201-1203)Cat>Tat p.H401Y ARHGEF6_uc011mwd.2_Missense_Mutation_p.H274Y|ARHGEF6_uc011mwe.2_Missense_Mutation_p.H247Y NM_004840 NP_004831 Q15052 ARHG6_HUMAN Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA. 401 DH. JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) ATATCCTGATGATCTGGATGA 0.378000 13 6 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11333707 11333708 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:11333707_11333708CC>TT uc002mqs.4 - 24 3071_3072 c.3030_3031GG>AA c.(3028-3033)cggggc>cgAAgc p.G1011S DOCK6_uc010xlq.2_Missense_Mutation_p.G350S NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA. 1011 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 AAGACAAAGCCCCGGTCCACCA 0.624000 59 5 0 0 1 0 0 ZNF329 79673 broad.mit.edu 37 19 58640603 58640603 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:58640603C>T uc002qrn.3 - 3 505 c.268G>A c.(268-270)Ggt>Agt p.G90S ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Missense_Mutation_p.G90S NM_024620 NP_078896 Q86UD4 ZN329_HUMAN Homo sapiens zinc finger protein 329 (ZNF329), mRNA. 90 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) GCATGGAAACCATTTGTTGCC 0.468000 113 13 0 0 1 0 0 IL17RC 84818 broad.mit.edu 37 3 9959256 9959256 + Missense_Mutation SNP G C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:9959256G>C uc003bua.3 + 0 475 c.257G>C c.(256-258)aGg>aCg p.R86T CIDEC_uc003bto.3_Intron|IL17RC_uc010hcr.3_Intron|IL17RC_uc011ato.2_Intron|IL17RC_uc010hcs.3_Intron|IL17RC_uc003btz.3_Intron|IL17RC_uc011atp.2_Intron|IL17RC_uc003bud.3_Intron|IL17RC_uc010hct.3_Intron|IL17RC_uc010hcu.3_Intron|IL17RC_uc003bub.3_Intron|IL17RC_uc010hcv.3_Intron|IL17RC_uc003buc.3_Intron|IL17RC_uc011atq.2_Intron NM_153461 NP_703191 Q8NAC3 I17RC_HUMAN Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA. 86 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GAACGGGGAAGGGGCAAGAGC 0.567000 81 8 0 0 1 0 0 OR2A5 393046 broad.mit.edu 37 7 143747773 143747773 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:143747773C>T uc011ktw.2 + 0 279 c.279C>T c.(277-279)tcC>tcT p.S93S NM_012365 NP_036497 Q96R48 OR2A5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA. 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I92N(1) cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) AAACAATCTCCTTTGTCCCAT 0.428000 85 18 0 0 1 0 0 SLC10A6 345274 broad.mit.edu 37 4 87746591 87746591 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:87746591C>T uc003hqd.2 - 4 1049 c.901G>A c.(901-903)Gga>Aga p.G301R NM_197965 NP_932069 Q3KNW5 SOAT_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA. 301 integral to membrane|plasma membrane bile acid:sodium symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 9 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) ATAAGAAATCCATCTATCAGC 0.443000 37 4 0 0 1 0 0 OR1N1 138883 broad.mit.edu 37 9 125289032 125289032 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:125289032G>A uc004bmn.1 - 0 541 c.541C>T c.(541-543)Cct>Tct p.P181S NM_012363 NP_036495 Q8NGS0 OR1N1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA. 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 TTCAGGACAGGAGTGATGTCA 0.493000 17 5 0 0 1 0 0 DSE 29940 broad.mit.edu 37 6 116747754 116747754 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:116747754C>T uc011ebg.2 + 2 590 c.491C>T c.(490-492)cCt>cTt p.P164L DSE_uc011ebf.1_Missense_Mutation_p.P145L|DSE_uc003pws.3_Missense_Mutation_p.P145L|DSE_uc003pwt.3_Missense_Mutation_p.P145L NM_013352 NP_037484 Q9UL01 DSE_HUMAN Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA. 145 dermatan sulfate biosynthetic process Golgi apparatus|endoplasmic reticulum|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) AAAGATGCTCCTTGGGATGAG 0.433000 62 6 0 0 1 0 0 PDGFRL 5157 broad.mit.edu 37 8 17478672 17478672 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:17478672G>A uc003wxr.3 + 3 911 c.466G>A c.(466-468)Gac>Aac p.D156N NM_006207 NP_006198 Q15198 PGFRL_HUMAN Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA. 156 Ig-like C2-type 1. extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) CTGCAGGAAGGACGAGGCCAA 0.527000 29 4 0 0 1 0 0 C7orf31 136895 broad.mit.edu 37 7 25175867 25175867 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:25175867G>A uc003sxn.1 - 9 2058 c.1497C>T c.(1495-1497)ttC>ttT p.F499F NM_138811 NP_620166 Q8N865 CG031_HUMAN Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA. 499 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 GTTCTAAAGTGAAAGCTTCCG 0.363000 75 26 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100379259 100379259 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:100379259C>T uc001dsi.1 + 29 4526 c.4126C>T c.(4126-4128)Cag>Tag p.Q1376* AGL_uc001dsj.1_Nonsense_Mutation_p.Q1376*|AGL_uc001dsk.1_Nonsense_Mutation_p.Q1376*|AGL_uc001dsl.1_Nonsense_Mutation_p.Q1376*|AGL_uc001dsm.1_Nonsense_Mutation_p.Q1360*|AGL_uc001dsn.1_Nonsense_Mutation_p.Q1359* NM_000642 NP_000635 P35573 GDE_HUMAN Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA. 1376 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GTGTGACTATCAGCTCAGGCC 0.373000 39 4 0 0 1 0 0 UGT1A1 54658 broad.mit.edu 37 2 234545607 234545607 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:234545607C>T uc002vur.3 + 0 485 c.439C>T c.(439-441)Ctg>Ttg p.L147L UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Silent_p.L147L NM_019075 NP_061948 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA. 150 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TGCAGTGTTTCTGGATCCTTT 0.388000 55 9 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37619923 37619923 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:37619923C>T uc003onu.1 - 6 2355 c.1176G>A c.(1174-1176)gaG>gaA p.E392E MDGA1_uc003onw.3_Non-coding_Transcript NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA. 392 Ig-like 4. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 CTGCGGGCAGCTCAGGATCAT 0.602000 73 11 0 0 1 0 0 SLC13A2 9058 broad.mit.edu 37 17 26817461 26817461 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:26817461C>T uc010wan.2 + 2 435 c.368C>T c.(367-369)tCc>tTc p.S123F SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.2_Intron|SLC13A2_uc002hbh.3_Intron|SLC13A2_uc010wao.2_Intron|SLC13A2_uc002hbi.3_Intron NM_001145975 NP_001139447 Q13183 S13A2_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA. 74 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) AGCCATGTCTCCACCTGCCAG 0.602000 133 14 0 0 1 0 0 PIWIL1 9271 broad.mit.edu 37 12 130846137 130846137 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:130846137G>A uc001uik.3 + 15 2232 c.1961G>A c.(1960-1962)gGg>gAg p.G654E PIWIL1_uc001uij.2_Missense_Mutation_p.G654E NM_004764 NP_004755 Q96J94 PIWL1_HUMAN Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA. 654 Piwi.|RNA-binding (By similarity). gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development P granule|chromatoid body mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) ATCAATGAAGGGATGACCCGG 0.507000 58 5 0 0 1 0 0 FOXJ2 55810 broad.mit.edu 37 12 8196301 8196301 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:8196301C>T uc001qtu.3 + 3 1498 c.413C>T c.(412-414)tCc>tTc p.S138F FOXJ2_uc001qtt.1_Missense_Mutation_p.S138F NM_018416 NP_060886 Q9P0K8 FOXJ2_HUMAN Homo sapiens forkhead box J2 (FOXJ2), mRNA. 138 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) TTCCAGGGTTCCTATTGGACA 0.443000 159 18 0 0 1 0 0 FAM170A 340069 broad.mit.edu 37 5 118970426 118970426 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:118970426G>A uc003ksm.2 + 2 1193 c.983G>A c.(982-984)aGg>aAg p.R328K FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Missense_Mutation_p.R328K|FAM170A_uc003kso.3_Missense_Mutation_p.R281K NM_182761 NP_877438 A1A519 F170A_HUMAN Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA. 328 intracellular zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 24 CCAAAGGACAGGAAGTGAGCA 0.557000 29 9 0 0 1 0 0 ZNF642 339559 broad.mit.edu 37 1 40947508 40947508 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:40947508C>T uc010ojk.2 + 2 495 c.201C>T c.(199-201)ctC>ctT p.L67L ZNF642_uc001cfo.3_Silent_p.L67L|ZNF642_uc009vwb.3_Silent_p.L67L NM_198494 NP_940896 Q49AA0 ZN642_HUMAN Homo sapiens zinc finger protein 642 (ZNF642), mRNA. 67 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1) 13 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.81e-19) CCCCTGGACTCCCGACAGCAG 0.478000 60 4 0 0 1 0 0 SERPINB5 5268 broad.mit.edu 37 18 61154210 61154210 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:61154210C>T uc002liz.4 + 2 342 c.200C>T c.(199-201)cCc>cTc p.P67L SERPINB5_uc002liy.2_Missense_Mutation_p.P67L NM_002639 NP_002630 P36952 SPB5_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 5 (SERPINB5), mRNA. 67 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 12 AAAGATGTACCCTTTGGATTT 0.378000 53 8 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687393 27687393 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:27687393G>A uc001itu.2 - 3 2252 c.2134C>T c.(2134-2136)Cct>Tct p.P712S NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 712 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 TTCTCATTAGGATCTTGGCTG 0.254000 18 5 0 0 1 0 0 ITGB2 3689 broad.mit.edu 37 21 46311850 46311850 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:46311850C>A uc002zgd.2 - 9 1330 c.1286G>T c.(1285-1287)cGg>cTg p.R429L ITGB2_uc002zgf.3_Missense_Mutation_p.R429L|ITGB2_uc011afl.1_Missense_Mutation_p.R351L|ITGB2_uc010gpw.2_Missense_Mutation_p.R372L|ITGB2_uc002zgg.2_Missense_Mutation_p.R429L NM_001127491 NP_001120963 P05107 ITB2_HUMAN Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA. 429 apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity p.R429W(1) breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) GCCCAGCGCCCGGATGACAAA 0.637000 26 3 1 1 1 1 0 ADAM18 8749 broad.mit.edu 37 8 39442176 39442176 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:39442176G>A uc003xni.3 + 0 90 c.35G>A c.(34-36)gGa>gAa p.G12E ADAM18_uc003xnh.3_Missense_Mutation_p.G12E|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G12E NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 12 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) ACTGAGCTTGGAAGACTGCAA 0.572000 43 11 0 0 1 0 0 CXCR6 10663 broad.mit.edu 37 3 45988292 45988292 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:45988292G>A uc003cpc.1 + 1 400 c.319G>A c.(319-321)Ggc>Agc p.G107S FYCO1_uc003cpb.4_Intron|FYCO1_uc011bal.1_Intron|CXCR6_uc010hix.1_Missense_Mutation_p.G107S|CXCR6_uc021www.1_Missense_Mutation_p.G107S NM_006564 NP_006555 O00574 CXCR6_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 6 (CXCR6), mRNA. 107 viral genome replication integral to plasma membrane coreceptor activity p.G107D(1) central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) GAGCCTACTGGGCATCTACAC 0.522000 170 24 0 0 1 0 0 OR6B3 150681 broad.mit.edu 37 2 240985384 240985384 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:240985384G>A uc010zoe.2 - 0 106 c.106C>T c.(106-108)Ctc>Ttc p.L36F PRR21_uc010zod.2_5'Flank NM_173351 NP_775486 Q8NGW1 OR6B3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA. 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1) 18 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) AGGACAAAGAGGTAGGTGAGC 0.592000 97 10 0 0 1 0 0 FAM75C1 441452 broad.mit.edu 37 9 90535853 90535853 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:90535853C>T uc010mqi.3 + 3 1060 c.1031C>T c.(1030-1032)tCa>tTa p.S344L FAM75C1_uc004apq.4_Missense_Mutation_p.S327L NM_001145124 NP_001138596 Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA. CCCTTTATTTCATCCACACCC 0.567000 195 13 0 0 1 0 0 C20orf132 140699 broad.mit.edu 37 20 35742530 35742530 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:35742530G>A uc010zvu.2 - 20 2645 c.2554C>T c.(2554-2556)Cgt>Tgt p.R852C C20orf132_uc002xgk.3_Missense_Mutation_p.R484C NM_152503 NP_689716 Q9H579 CT132_HUMAN Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA. 0 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(115;0.00878) ACGGAGAAACGATGAACATCA 0.478000 12 3 0 0 1 0 0 IDUA 3425 broad.mit.edu 37 4 998080 998080 + Nonsense_Mutation SNP C T T rs121965025 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:998080C>T uc003gby.3 + 13 1949 c.1861C>T c.(1861-1863)Cga>Tga p.R621* IDUA_uc003gbz.3_Non-coding_Transcript|IDUA_uc003gca.3_Nonsense_Mutation_p.R643* NM_000203 NP_000194 P35475 IDUA_HUMAN Homo sapiens iduronidase, alpha-L- (IDUA), mRNA. 621 disaccharide metabolic process lysosome L-iduronidase activity|cation binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) CTACCGAGTTCGAGCCCTGGA 0.662000 63 9 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21329051 21329051 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:21329051C>T uc002ztj.2 + 7 884 c.666C>T c.(664-666)atC>atT p.I222I LZTR1_uc002ztk.2_Silent_p.I222I|LZTR1_uc002ztl.2_Silent_p.I228I|LZTR1_uc011ahx.1_Silent_p.I210I NM_144704 NP_653305 Q8N653 LZTR1_HUMAN Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 0 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CCGACCGGATCGTCCTGTGCA 0.652000 80 8 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10703324 10703324 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:10703324C>T uc001aro.3 - 18 4233 c.3913G>A c.(3913-3915)Gag>Aag p.E1305K NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA. 1305 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.R1304Q(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) TGGCAGCCCTCCCGGATGCAG 0.632000 41 7 0 0 1 0 0 PTGFR 5737 broad.mit.edu 37 1 78958547 78958547 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:78958547G>A uc001din.3 + 1 385 c.119G>A c.(118-120)gGa>gAa p.G40E PTGFR_uc001dim.3_Missense_Mutation_p.G40E NM_000959 NP_000950 P43088 PF2R_HUMAN Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA. 40 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) ATGACAGTGGGAATCTTGTCA 0.468000 98 8 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 31066295 31066295 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:31066295C>T uc002yno.1 - 1 670 c.206G>A c.(205-207)cGa>cAa p.R69Q GRIK1_uc002ynn.3_Missense_Mutation_p.R69Q|GRIK1_uc011acs.2_Missense_Mutation_p.R69Q|GRIK1_uc011act.2_Intron|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.3_Missense_Mutation_p.R69Q NM_000830 NP_000821 P39086 GRIK1_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA. 69 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CATCAGGGTTCGGTTTCTGTT 0.398000 17 3 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38510690 38510690 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:38510690C>T uc010ive.1 - 6 1199 c.867G>A c.(865-867)ttG>ttA p.L289L LIFR_uc003jli.2_Silent_p.L289L NM_001127671 NP_002301 P42702 LIFR_HUMAN Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA. 289 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity p.L289S(1) NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) CAAGATGGATCAAGGGGCAGT 0.363000 T PLAG1 salivary adenoma 25 6 0 0 1 0 0 F2 2147 broad.mit.edu 37 11 46748384 46748384 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:46748384C>T uc001ndf.4 + 8 1170 c.1127C>T c.(1126-1128)cCt>cTt p.P376L NM_000506 NP_000497 P00734 THRB_HUMAN Homo sapiens coagulation factor II (thrombin) (F2), mRNA. 376 Peptidase S1. STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) GGCATGTCACCTTGGTGTGTC 0.612000 108 7 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35759750 35759750 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:35759750G>A uc003jjo.3 + 24 3660 c.3549G>A c.(3547-3549)gaG>gaA p.E1183E SPEF2_uc003jjp.1_Silent_p.E669E NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1183 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCCCAGTAGAGGACAACAAGA 0.393000 70 5 0 0 1 0 0 RPL27A 6157 broad.mit.edu 37 11 8706416 8706416 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:8706416C>T uc001mgs.4 + 3 661 c.295C>T c.(295-297)Ccc>Tcc p.P99S SNORA45_uc001mgr.1_5'Flank NM_000990 NP_000981 P46776 RL27A_HUMAN Homo sapiens ribosomal protein L27a (RPL27A), mRNA. 99 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|protein binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGGGGCTGCTCCCATCATTGA 0.433000 96 22 0 0 1 0 0 TAS1R1 80835 broad.mit.edu 37 1 6631087 6631087 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:6631087G>A uc001ant.3 + 1 406 c.310G>A c.(310-312)Gat>Aat p.D104N TAS1R1_uc001anu.3_Missense_Mutation_p.D104N|TAS1R1_uc021ofp.1_Missense_Mutation_p.D26N NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA. 104 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CCAGCTGTATGATGTGTGTTC 0.557000 152 20 0 0 1 0 0 FCHO1 23149 broad.mit.edu 37 19 17892612 17892612 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:17892612C>T uc002nhg.3 + 22 2199 c.1920C>T c.(1918-1920)ttC>ttT p.F640F FCHO1_uc010ebb.2_Silent_p.F640F|FCHO1_uc002nhh.2_Silent_p.F640F|FCHO1_uc010xpw.1_Silent_p.F590F NM_001161357 NP_001154829 O14526 FCHO1_HUMAN Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA. 640 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 ACGCCTACTTCCGTGGCCACA 0.637000 79 20 0 0 1 0 0 ATPAF1 64756 broad.mit.edu 37 1 47101462 47101462 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:47101462G>A uc001cqh.3 - 8 1078 c.973C>T c.(973-975)Caa>Taa p.Q325* ATPAF1_uc021onc.1_Nonsense_Mutation_p.Q119*|ATPAF1_uc009vyk.3_Nonsense_Mutation_p.Q174*|ATPAF1_uc010omg.2_Nonsense_Mutation_p.Q237*|ATPAF1_uc001cqi.3_Nonsense_Mutation_p.Q257* NM_022745 NP_073582 Q5TC12 ATPF1_HUMAN Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 1 (ATPAF1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 325 protein complex assembly mitochondrion protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 8 Acute lymphoblastic leukemia(166;0.155) GTCTTATTTTGGTTCTGGGCA 0.483000 69 23 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 112029764 112029764 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:112029764C>T uc004bdz.1 - 3 817 c.522G>A c.(520-522)gaG>gaA p.E174E EPB41L4B_uc004bea.3_Silent_p.E174E NM_019114 NP_061987 Q9H329 E41LB_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA. 174 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTGTAAACTCCTCACGAAGGT 0.443000 44 6 0 0 1 0 0 MFSD11 79157 broad.mit.edu 37 17 74771114 74771114 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:74771114C>T uc002jta.2 + 11 1883 c.910C>T c.(910-912)Cgt>Tgt p.R304C MFSD11_uc002jtd.4_Missense_Mutation_p.R304C|MFSD11_uc002jtb.3_Missense_Mutation_p.R304C|MFSD11_uc002jtc.3_Missense_Mutation_p.R304C|MFSD11_uc002jte.3_Missense_Mutation_p.R304C|MFSD11_uc010dhb.3_Missense_Mutation_p.R252C|MFSD11_uc010dha.3_Missense_Mutation_p.R252C NM_001242534 NP_001229463 O43934 MFS11_HUMAN Homo sapiens major facilitator superfamily domain containing 11 (MFSD11), transcript variant 3, mRNA. 304 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 CAAGAACAATCGTTTTGGTAG 0.468000 149 38 0 0 1 0 0 LCE1E 353135 broad.mit.edu 37 1 152760053 152760053 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152760053C>T uc021ozg.1 + 0 278 c.278C>T c.(277-279)tCt>tTt p.S93F LCE1E_uc001fan.3_Missense_Mutation_p.S93F NM_178353 NP_848130 Q5T753 LCE1E_HUMAN Homo sapiens late cornified envelope 1E (LCE1E), mRNA. 93 Cys-rich. keratinization lung(5)|stomach(1) 6 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCCCAGAGCTCTGACTGCTGC 0.667000 97 9 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7581439 7581439 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:7581439G>A uc003mxp.1 + 22 5295 c.5016G>A c.(5014-5016)caG>caA p.Q1672Q DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 1672 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TCCAGGAACAGGAAAGTGTCA 0.493000 85 4 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47342805 47342805 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:47342805G>A uc003tnw.3 - 21 3558 c.3200C>T c.(3199-3201)tCc>tTc p.S1067F TNS3_uc022acn.1_Missense_Mutation_p.S624F NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN Homo sapiens tensin 3 (TNS3), mRNA. 1067 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 AAAGTTGTGGGACAGGAAGCC 0.672000 33 5 0 0 1 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51350368 51350368 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:51350368G>A uc001zyy.3 - 2 689 c.589C>T c.(589-591)Cgg>Tgg p.R197W NM_207381 NP_997264 Q5GJ75 TP8L3_HUMAN Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA. 197 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) AGCTTCTTCCGGAACTTCTCC 0.478000 70 8 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16822587 16822587 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:16822587C>T uc010rcu.1 - 16 2358 c.2343G>A c.(2341-2343)ttG>ttA p.L781L PLEKHA7_uc001mmo.3_Silent_p.L781L|PLEKHA7_uc010rcv.2_Silent_p.L355L|PLEKHA7_uc001mmn.3_Silent_p.L489L NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA. 781 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 CATCATTCTCCAACTTCAGGT 0.498000 108 17 0 0 1 0 0 RAB15 376267 broad.mit.edu 37 14 65417870 65417870 + Splice_Site SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:65417870C>A uc021rut.1 - 4 328 c.247_splice c.e4-1 p.G83_splice CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|RAB15_uc001xhz.2_Splice_Site_p.G83_splice|RAB15_uc021rur.1_Splice_Site|RAB15_uc021rus.1_Splice_Site P59190 RAB15_HUMAN Homo sapiens RAB15, member RAS onocogene family (RAB15), mRNA. 83 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 8 all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102) AAAATATCCCCTGAGAGAGAG 0.517000 53 4 1 1 1 1 0 EPHA6 285220 broad.mit.edu 37 3 96706185 96706185 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:96706185C>T uc010how.1 + 2 505 c.462C>T c.(460-462)atC>atT p.I154I EPHA6_uc003drp.1_Silent_p.I154I NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 59 Ephrin-binding. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GGGATGCCATCACTGAAATGG 0.348000 34 5 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187531066 187531066 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:187531066G>A uc003izf.3 - 14 10145 c.9957C>T c.(9955-9957)gcC>gcT p.A3319A NM_005245 NP_005236 Q14517 FAT1_HUMAN Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA. 3319 Cadherin 30. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CGTTCACAGTGGCAACGTCGC 0.458000 HNSCC(5;0.00058) 28 5 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131831424 131831424 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:131831424G>A uc003vra.4 - 27 5129 c.4900C>T c.(4900-4902)Ctc>Ttc p.L1634F PLXNA4_uc003vqz.4_5'Flank NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1634 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CGTGAGCGGAGGCTGTCGGGG 0.577000 136 32 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34008417 34008417 + Silent SNP G A A rs138523089 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:34008417G>A uc001bxm.1 - 57 9357 c.9180C>T c.(9178-9180)atC>atT p.I3060I CSMD2_uc001bxn.1_Silent_p.I2916I NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 3034 Sushi 23. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACTCATAGACGATAGAGCTGG 0.542000 54 4 0 0 1 0 0 VPS41 27072 broad.mit.edu 37 7 38948800 38948800 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:38948800G>A uc003tgy.3 - 1 1 c.-25_splice c.e1-1 VPS41_uc003tgz.3_Splice_Site|VPS41_uc010kxn.3_Splice_Site NM_014396 NP_055211 P49754 VPS41_HUMAN Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA. Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 TCACCTGACAGACCCGGAAAT 0.557000 96 10 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139890033 139890033 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:139890033G>A uc003yvd.3 - 2 1065 c.618C>T c.(616-618)atC>atT p.I206I NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 206 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGATCTTGTCGATGGCATTGA 0.662000 HNSCC(7;0.00092) 43 11 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38881854 38881854 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:38881854G>A uc003jln.2 + 3 808 c.406G>A c.(406-408)Gag>Aag p.E136K OSMR_uc003jlm.2_Missense_Mutation_p.E136K NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 136 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity p.E136D(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) GAGTTCCTGGGAGGAAGTCAG 0.423000 40 10 0 0 1 0 0 SYT2 127833 broad.mit.edu 37 1 202568430 202568430 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:202568430C>T uc001gye.3 - 7 1162 c.969G>A c.(967-969)aaG>aaA p.K323K SYT2_uc010pqb.2_Silent_p.K323K|SYT2_uc009xaf.3_Silent_p.K153K NM_001136504 NP_796376 Q8N9I0 SYT2_HUMAN Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA. 323 C2 2.|Phospholipid binding (By similarity). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) TTGTCTTCTTCTTCTTGAGCC 0.552000 119 11 0 0 1 0 0 TMPRSS4 56649 broad.mit.edu 37 11 117973950 117973950 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:117973950G>A uc021qrd.1 + 3 583 c.292G>A c.(292-294)Gaa>Aaa p.E98K TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Missense_Mutation_p.E98K|TMPRSS4_uc010rxo.2_Missense_Mutation_p.E96K|TMPRSS4_uc010rxs.2_Missense_Mutation_p.E58K|TMPRSS4_uc010rxq.2_5'UTR|TMPRSS4_uc010rxr.2_Missense_Mutation_p.E73K|TMPRSS4_uc010rxt.2_Missense_Mutation_p.E73K NM_019894 NP_063947 Q9NRS4 TMPS4_HUMAN Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA. 98 SRCR. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) GAGCTTCCCCGAAGGGCCTGC 0.632000 95 13 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19339201 19339201 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:19339201G>A uc002nlz.3 + 7 2871 c.2772G>A c.(2770-2772)ggG>ggA p.G924G NCAN_uc010ecc.1_Silent_p.G488G NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 924 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GTCCCCTAGGGAAACCGGCTG 0.632000 91 22 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12368588 12368588 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12368588G>A uc001atv.3 + 26 6681 c.6540G>A c.(6538-6540)gaG>gaA p.E2180E VPS13D_uc001atw.3_Silent_p.E2180E|VPS13D_uc001atx.3_Silent_p.E1368E|VPS13D_uc001aty.1_5'Flank NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 2180 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AGGCACCAGAGGATAGTAGTG 0.502000 120 34 0 0 1 0 0 ATXN7L3 56970 broad.mit.edu 37 17 42273443 42273443 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:42273443G>A uc002iga.3 - 5 573 c.482C>T c.(481-483)cCc>cTc p.P161L ATXN7L3_uc010wiv.2_5'Flank|ATXN7L3_uc002ifz.3_Missense_Mutation_p.P168L NM_001098833 NP_001092303 Q14CW9 AT7L3_HUMAN Homo sapiens ataxin 7-like 3 (ATXN7L3), transcript variant 2, mRNA. 161 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) AGGGGAATTGGGGTTCTGGAA 0.483000 93 9 0 0 1 0 0 KRTAP9-3 83900 broad.mit.edu 37 17 39389223 39389223 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39389223C>T uc021txg.1 + 0 509 c.470C>T c.(469-471)tCt>tTt p.S157F NM_031962 NP_114168 Q9BYQ3 KRA93_HUMAN Homo sapiens keratin associated protein 9-3 (KRTAP9-3), mRNA. 157 16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI]. keratin filament protein binding breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1) 8 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) TGCCAGCCTTCTTGCTGCTAA 0.532000 158 30 0 0 1 0 0 C15orf32 145858 broad.mit.edu 37 15 93015479 93015479 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:93015479C>T uc002brc.1 + 0 573 c.101C>T c.(100-102)aCt>aTt p.T34I C15orf32_uc010bod.1_Non-coding_Transcript NM_153040 NP_694585 Q32M92 CO032_HUMAN Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA. 34 endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 12 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125) AACACCAAGACTTCCCCAAGA 0.537000 87 6 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1785236 1785236 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:1785236C>T uc002ltw.3 - 26 3688 c.3454G>A c.(3454-3456)Ggt>Agt p.G1152S ATP8B3_uc002ltv.3_Missense_Mutation_p.G1115S|ATP8B3_uc002ltx.3_Non-coding_Transcript NM_138813 NP_620168 O60423 AT8B3_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA. 1152 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGTAGAAACCAAGGCTGAGG 0.592000 9 8 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51791010 51791010 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:51791010G>A uc010ufy.2 - 17 4636 c.4411C>T c.(4411-4413)Ctg>Ttg p.L1471L DMXL2_uc002abf.3_Silent_p.L1471L|DMXL2_uc010bfa.3_Intron NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 1471 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) ATTTGAAACAGCTCTGAATAC 0.358000 84 6 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208390428 208390428 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:208390428G>A uc001hgz.3 - 1 1598 c.840C>T c.(838-840)atC>atT p.I280I PLXNA2_uc001hha.4_Silent_p.I334I NM_025179 NP_079455 O75051 PLXA2_HUMAN Homo sapiens plexin A2 (PLXNA2), mRNA. 280 Sema. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) AGAGCCGCACGATGCGTGAGG 0.612000 63 27 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106471463 106471463 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:106471463C>T uc021ser.1 - 2492 c.43527G>A Parts of antibodies, mostly variable regions. GAAGGTGTATCCAGAAGCCTT 0.557000 81 13 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41745271 41745271 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:41745271C>T uc003azw.3 + 15 2130 c.1914C>T c.(1912-1914)atC>atT p.I638I NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA. 654 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding p.F637F(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 ACAGCTTCATCGAGCTCAAGG 0.652000 84 17 0 0 1 0 0 BCAS1 8537 broad.mit.edu 37 20 52601914 52601914 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:52601914G>A uc002xws.2 - 6 1390 c.1052C>T c.(1051-1053)tCc>tTc p.S351F BCAS1_uc010zza.1_Missense_Mutation_p.S109F|BCAS1_uc010zzb.1_Missense_Mutation_p.S299F|BCAS1_uc010gim.2_Missense_Mutation_p.S299F|BCAS1_uc002xwt.2_Missense_Mutation_p.S351F|BCAS1_uc010gil.1_Missense_Mutation_p.S351F NM_003657 NP_003648 O75363 BCAS1_HUMAN Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA. 351 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) GGTTGTCACGGACTGTGTGTG 0.517000 34 5 0 0 1 0 0 MTUS1 57509 broad.mit.edu 37 8 17581265 17581265 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:17581265A>T uc003wxv.3 - 3 2839 c.2365T>A c.(2365-2367)Ttg>Atg p.L789M MTUS1_uc003wxt.3_5'Flank|MTUS1_uc011kyg.2_5'Flank|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Intron|MTUS1_uc010lsz.3_Missense_Mutation_p.L789M NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA. 789 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) GGACTTTTCAAAGATGCTTTG 0.453000 46 5 0 0 1 0 0 HIRA 7290 broad.mit.edu 37 22 19346936 19346936 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:19346936G>A uc002zpf.1 - 17 2377 c.2157C>T c.(2155-2157)agC>agT p.S719S HIRA_uc011agx.1_Silent_p.S585S|HIRA_uc010grn.1_Intron|HIRA_uc010gro.2_Silent_p.S675S|HIRA_uc010grp.3_Non-coding_Transcript NM_003325 NP_003316 P54198 HIRA_HUMAN Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA. 719 Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) ACTTCAGGCGGCTCAGCTTCA 0.592000 42 8 0 0 1 0 0 FAM168B 130074 broad.mit.edu 37 2 131812888 131812888 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:131812888G>A uc002tsd.3 - 4 661 c.432C>T c.(430-432)gtC>gtT p.V144V NM_001009993 NP_001009993 A1KXE4 F168B_HUMAN Homo sapiens family with sequence similarity 168, member B (FAM168B), mRNA. 144 p.G143W(1) endometrium(3)|lung(2) 5 TGCCCATGGTGACCCCGTTGC 0.632000 128 8 0 0 1 0 0 NRBP2 340371 broad.mit.edu 37 8 144919435 144919435 + Silent SNP G A A rs138709296 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:144919435G>A uc011lkt.2 - 12 1253 c.1113C>T c.(1111-1113)ttC>ttT p.F371F NRBP2_uc003yzw.3_Silent_p.F163F|NRBP2_uc010mfl.3_Silent_p.F163F|NRBP2_uc010mfm.3_Silent_p.F128F|NRBP2_uc011lks.2_Silent_p.F128F|NRBP2_uc003yzy.3_Silent_p.F128F|NRBP2_uc003yzv.3_Silent_p.F128F|NRBP2_uc003yzz.1_5'Flank NM_178564 NP_848659 Q9NSY0 NRBP2_HUMAN Homo sapiens nuclear receptor binding protein 2 (NRBP2), mRNA. 371 negative regulation of neuron apoptosis|neuron differentiation cytoplasm ATP binding|protein kinase activity central_nervous_system(2)|kidney(1)|large_intestine(2) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CATCCTCCAGGAATTTGTCCA 0.612000 32 9 0 0 1 0 0 HEXA 3073 broad.mit.edu 37 15 72638964 72638964 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:72638964A>T uc002aun.4 - 10 1441 c.1234T>A c.(1234-1236)Ttc>Atc p.F412I BC034424_uc002aug.3_Non-coding_Transcript|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Missense_Mutation_p.F423I|HEXA_uc010bix.3_Missense_Mutation_p.F412I|HEXA_uc010biy.2_Missense_Mutation_p.F275I|HEXA_uc010uko.1_Missense_Mutation_p.F238I NM_000520 NP_000511 P06865 HEXA_HUMAN Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA. 412 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity p.F412F(1)|p.G411S(1) breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 AGGGCCCGGAAGCCGGCCTTG 0.507000 275 14 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904392 73904392 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:73904392C>T uc011dyh.2 + 14 2458 c.2111C>T c.(2110-2112)tCg>tTg p.S704L KCNQ5_uc011dyi.2_Missense_Mutation_p.S695L|KCNQ5_uc010kat.3_Missense_Mutation_p.S676L|KCNQ5_uc003pgk.3_Missense_Mutation_p.S685L|KCNQ5_uc011dyj.2_Missense_Mutation_p.S575L|KCNQ5_uc011dyk.2_Missense_Mutation_p.S435L NM_001160133 NP_001153605 Q9NR82 KCNQ5_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA. 685 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GCCAACATCTCGAGAGGCCTG 0.488000 78 8 0 0 1 0 0 C4orf37 285555 broad.mit.edu 37 4 98893493 98893493 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:98893493G>A uc003htt.2 - 6 961 c.871C>T c.(871-873)Cct>Tct p.P291S NM_174952 NP_777612 Q8N412 CD037_HUMAN Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA. 291 cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;2.27e-08) AAAGTCCGAGGAACAGAAGAA 0.358000 41 4 0 0 1 0 0 ANGPTL5 253935 broad.mit.edu 37 11 101762143 101762143 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:101762143C>T uc001pgl.3 - 8 1630 c.1034G>A c.(1033-1035)gGc>gAc p.G345D NM_178127 NP_835228 Q86XS5 ANGL5_HUMAN Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA. 345 Fibrinogen C-terminal. signal transduction extracellular space receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3) 29 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) GTGATGAATGCCATTTAGATT 0.448000 49 4 0 0 1 0 0 SPATA7 55812 broad.mit.edu 37 14 88904536 88904536 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:88904536C>T uc001xwq.3 + 11 1991 c.1570C>T c.(1570-1572)Cat>Tat p.H524Y SPATA7_uc001xwr.3_Missense_Mutation_p.H492Y|SPATA7_uc001xws.3_Missense_Mutation_p.H460Y|SPATA7_uc001xwt.3_Missense_Mutation_p.H418Y|SPATA7_uc001xwu.3_Intron NM_018418 NP_060888 Q9P0W8 SPAT7_HUMAN Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA. 524 response to stimulus|visual perception cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 18 GGATGAAAATCATCCAAGTAT 0.333000 19 6 0 0 1 0 0 SLC45A3 85414 broad.mit.edu 37 1 205631986 205631987 + Missense_Mutation DNP GG AA AA rs146644393 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:205631986_205631987GG>AA uc001hda.1 - 2 1271_1272 c.932_933CC>TT c.(931-933)acc>aTT p.T311I SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_Missense_Mutation_p.T145I|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron NM_033102 NP_149093 Q96JT2 S45A3_HUMAN Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA. 311 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) TCCGGGCCTCGGTGCCCGGCTC 0.639000 T """ETV1, ETV5, ELK4, ERG""" prostate 66 11 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13476228 13476228 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:13476228G>A uc002mwy.3 - 4 923 c.687C>T c.(685-687)atC>atT p.I229I CACNA1A_uc010xnd.2_Silent_p.I229I|CACNA1A_uc021ups.1_Silent_p.I229I|CACNA1A_uc010xne.2_Silent_p.I229I|CACNA1A_uc010dze.2_Silent_p.I229I|CACNA1A_uc021upt.1_Silent_p.I229I NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 229 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GGAGGAGGCCGATCTGCAGCA 0.458000 46 8 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255716 15255716 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:15255716C>T uc001iob.3 - 7 1878 c.1871G>A c.(1870-1872)gGg>gAg p.G624E NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA. 624 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 TGGGAAGATCCCGGCATGGGG 0.637000 65 28 0 0 1 0 0 AHCY 191 broad.mit.edu 37 20 32873263 32873263 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:32873263G>A uc002xai.3 - 8 1289 c.1150C>T c.(1150-1152)Cat>Tat p.H384Y AHCY_uc002xaj.3_Missense_Mutation_p.H356Y NM_000687 NP_001155238 P23526 SAHH_HUMAN Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 1, mRNA. 384 methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 GGCAGGAAATGAACCCCAACG 0.537000 59 11 0 0 1 0 0 CNPPD1 27013 broad.mit.edu 37 2 220037337 220037337 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:220037337G>A uc002vju.4 - 7 1356 c.1204C>T c.(1204-1206)Cgc>Tgc p.R402C NHEJ1_uc002vjq.4_5'Flank|SLC23A3_uc010zkr.2_5'Flank|SLC23A3_uc010zks.2_5'Flank|SLC23A3_uc010fwb.3_5'Flank|CNPPD1_uc002vjv.3_Missense_Mutation_p.R402C NM_015680 NP_056495 Q9BV87 CNPD1_HUMAN Homo sapiens cyclin Pas1/PHO80 domain containing 1 (CNPPD1), mRNA. 402 regulation of cyclin-dependent protein kinase activity integral to membrane protein kinase binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 12 GACTTGAGGCGAGCCAGCTCC 0.542000 90 13 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44248039 44248039 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:44248039C>T uc003oxi.2 - 4 1541 c.1385G>A c.(1384-1386)aGc>aAc p.S462N TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA. 462 p.S462S(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GAGGTACTCGCTTTCCTGGGC 0.587000 98 6 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55533582 55533582 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:55533582G>A uc003xsd.1 + 1 204 c.56G>A c.(55-57)gGt>gAt p.G19D RP1_uc011ldy.1_Missense_Mutation_p.G19D NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 19 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.G19S(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TCTTCTGAAGGTCAAGTTCCA 0.488000 79 9 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135201931 135201931 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:135201931G>A uc004cbk.3 - 9 5237 c.5054C>T c.(5053-5055)tCc>tTc p.S1685F SETX_uc004cbj.3_Missense_Mutation_p.S1304F|SETX_uc010mzt.3_Missense_Mutation_p.S1304F NM_015046 NP_055861 Q7Z333 SETX_HUMAN Homo sapiens senataxin (SETX), mRNA. 1685 RNA processing|cell death|double-strand break repair cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TACTGGAGAGGAAGATGGAAA 0.373000 44 5 0 0 1 0 0 FURIN 5045 broad.mit.edu 37 15 91424577 91424577 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:91424577C>T uc002bpu.1 + 15 2070 c.1854C>T c.(1852-1854)ttC>ttT p.F618F NM_002569 NP_002560 P09958 FURIN_HUMAN Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA. 618 Cys-rich. Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity p.G617W(1) breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CTCCAGGGTTCGCCCCCCAAG 0.632000 286 134 0 0 1 0 0 THEG 51298 broad.mit.edu 37 19 371267 371267 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:371267G>A uc002lol.3 - 5 734 c.691C>T c.(691-693)Cgc>Tgc p.R231C THEG_uc002lom.3_Missense_Mutation_p.R207C NM_016585 NP_057669 Q9P2T0 THEG_HUMAN Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA. 231 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCTTCAGGCGACTCGACGCT 0.652000 169 21 0 0 1 0 0 METAP1D 254042 broad.mit.edu 37 2 172926360 172926360 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:172926360T>A uc002uhk.3 + 1 248 c.175T>A c.(175-177)Tct>Act p.S59T METAP1D_uc010zdw.2_5'UTR NM_199227 NP_954697 Q6UB28 AMP1D_HUMAN Homo sapiens methionyl aminopeptidase type 1D (mitochondrial) (METAP1D), nuclear gene encoding mitochondrial protein, mRNA. 59 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 8 GGCTGCAGTTTCTTCAGCTCA 0.383000 210 12 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140711950 140711950 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140711950C>T uc003lji.2 + 0 1699 c.1699C>T c.(1699-1701)Ctc>Ttc p.L567F PCDHGC5_uc011dan.2_Missense_Mutation_p.L567F NM_018912 NP_061735 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA. 569 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTACCCCGCCCTCCCCACAGA 0.672000 105 17 0 0 1 0 0 HCLS1 3059 broad.mit.edu 37 3 121353213 121353213 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:121353213C>T uc003eeh.4 - 9 869 c.744G>A c.(742-744)gaG>gaA p.E248E HCLS1_uc011bjj.2_Silent_p.E211E|HCLS1_uc011bjk.1_Non-coding_Transcript NM_005335 NP_005326 P14317 HCLS1_HUMAN Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA. 248 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) GCTTCCTCTTCTCCTCAGCCA 0.552000 50 7 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102038463 102038463 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:102038463C>T uc001tii.3 + 9 919 c.779C>T c.(778-780)cCt>cTt p.P260L MYBPC1_uc001tif.2_Missense_Mutation_p.P273L|MYBPC1_uc001tig.3_Missense_Mutation_p.P285L|MYBPC1_uc010svr.2_Missense_Mutation_p.P260L|MYBPC1_uc010svs.2_Missense_Mutation_p.P260L|MYBPC1_uc001tij.3_Missense_Mutation_p.P260L|MYBPC1_uc010svt.2_Missense_Mutation_p.P248L|MYBPC1_uc010svu.2_Missense_Mutation_p.P241L|MYBPC1_uc001tik.3_Missense_Mutation_p.P234L|MYBPC1_uc001tih.3_Missense_Mutation_p.P285L|MYBPC1_uc010svq.2_Missense_Mutation_p.P247L NM_206820 NP_996556 Q00872 MYPC1_HUMAN Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA. 260 Ig-like C2-type 2. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 ATTCTTGATCCTGCATATCAG 0.348000 25 3 0 0 1 0 0 OR6C68 403284 broad.mit.edu 37 12 55886309 55886309 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:55886309G>A uc010spo.2 + 0 163 c.163G>A c.(163-165)Gat>Aat p.D55N NM_001005519 NP_001005519 A6NDL8 O6C68_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA. 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 CACCATGTTGGATCCCCACCT 0.383000 61 7 0 0 1 0 0 GCOM1 145781 broad.mit.edu 37 15 58004349 58004349 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:58004349C>T uc002aem.3 + 12 1603 c.1472C>T c.(1471-1473)tCc>tTc p.S491F GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Intron|GCOM1_uc002aes.3_Missense_Mutation_p.S78F|GCOM1_uc010ugu.2_Non-coding_Transcript|GCOM1_uc002aet.4_Missense_Mutation_p.S309F|GCOM1_uc002aeu.4_Missense_Mutation_p.S152F NM_001018090 NP_001018100 P0CAP1 GCOM1_HUMAN Homo sapiens GRINL1A complex locus 1 (GCOM1), transcript variant 1, mRNA. 376 intracellular signal transduction I band|extrinsic to internal side of plasma membrane endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 ATAGAAGAATCCTTGGCACTT 0.453000 67 7 0 0 1 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499966 59499966 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:59499966G>A uc002agb.3 + 0 925 c.827G>A c.(826-828)tGg>tAg p.W276* MYO1E_uc002aga.3_Intron NM_033195 NP_149972 Q9BYZ2 LDH6B_HUMAN Homo sapiens lactate dehydrogenase A-like 6B (LDHAL6B), mRNA. 276 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) CCTGAGCAATGGAAAAATGTC 0.423000 29 7 0 0 1 0 0 FSD2 123722 broad.mit.edu 37 15 83451680 83451680 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:83451680C>T uc002bjd.2 - 3 1000 c.833G>A c.(832-834)gGg>gAg p.G278E FSD2_uc010uol.1_Missense_Mutation_p.G278E|FSD2_uc010uom.1_Missense_Mutation_p.G278E NM_001007122 NP_001007123 A1L4K1 FSD2_HUMAN Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA. 278 breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 CTTTTTCTCCCCTAGAGCTTG 0.383000 169 19 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108719109 108719109 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:108719109C>T uc022cch.1 - 0 142 c.57G>A c.(55-57)agG>agA p.R19R GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.R19R NM_001522 NP_001513 P51841 GUC2F_HUMAN Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA. 19 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 CCAGCAGTTTCCTGAAAGCCG 0.557000 OREG0019905 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 5 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33567246 33567246 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:33567246G>A uc002xbi.2 + 5 588 c.271G>A c.(271-273)Gtc>Atc p.V91I MYH7B_uc010gfa.1_Missense_Mutation_p.V49I NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA. 49 Myosin head-like. membrane|myosin filament ATP binding|actin binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GGAGGCCGAGGTCAAGTCGGA 0.607000 29 6 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176762725 176762725 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:176762725C>T uc001gkz.3 + 19 6214 c.5050C>T c.(5050-5052)Ccc>Tcc p.P1684S PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1684 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.P1684P(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GTGTGTAATCCCCCCCAGTGA 0.468000 43 7 0 0 1 0 0 CD3D 915 broad.mit.edu 37 11 118209930 118209930 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:118209930G>A uc001pss.1 - 4 600 c.463C>T c.(463-465)Cga>Tga p.R155* CD3D_uc001pst.1_Nonsense_Mutation_p.R111*|CD3D_uc021qrf.1_Nonsense_Mutation_p.R82* NM_000732 NP_000723 P04234 CD3D_HUMAN Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA. 155 ITAM. T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection cytoplasm|integral to membrane protein heterodimerization activity p.R155*(2) large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 9 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) GCATCATCTCGATCTCGGAGG 0.542000 63 9 0 0 1 0 0 FAM117B 150864 broad.mit.edu 37 2 203591054 203591054 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:203591054C>T uc010zhx.2 + 3 938 c.928C>T c.(928-930)Cat>Tat p.H310Y NM_173511 NP_775782 Q6P1L5 F117B_HUMAN Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA. 310 p.H310Y(1)|p.H66Y(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 GTCTCCATTTCATGGCAACCA 0.388000 199 19 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248263533 248263533 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:248263533C>T uc001ids.3 + 2 1193 c.856C>T c.(856-858)Ccc>Tcc p.P286S OR2L13_uc021pmc.1_Missense_Mutation_p.P286S NM_175911 NP_787107 Q8N349 OR2LD_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA. 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding p.P286S(3)|p.P286P(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CATGCTCAATCCCATTATCTA 0.488000 38 5 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103900141 103900141 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:103900141C>T uc001kum.3 + 4 1915 c.1876C>T c.(1876-1878)Ccg>Tcg p.P626S PPRC1_uc001kun.3_Missense_Mutation_p.P506S|PPRC1_uc010qqj.2_Missense_Mutation_p.P626S|PPRC1_uc009xxa.3_Non-coding_Transcript NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA. 626 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|nucleotide binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TGAGCCTCTCCCGGCTGAGCC 0.562000 55 10 0 0 1 0 0 SHPK 23729 broad.mit.edu 37 17 3524632 3524632 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:3524632G>A uc002fvz.1 - 4 825 c.722C>T c.(721-723)tCc>tTc p.S241F NM_013276 NP_037408 Q9UHJ6 SHPK_HUMAN Homo sapiens sedoheptulokinase (SHPK), mRNA. 241 carbohydrate metabolic process cytoplasm ATP binding|sedoheptulokinase activity breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 COAD - Colon adenocarcinoma(5;0.0828) CCACATGTGGGAAGTTCTGCC 0.567000 62 7 0 0 1 0 0 FAM113B 91523 broad.mit.edu 37 12 47629874 47629874 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:47629874C>T uc001rpq.3 + 1 1553 c.1028C>T c.(1027-1029)tCc>tTc p.S343F FAM113B_uc001rpn.3_Missense_Mutation_p.S343F|FAM113B_uc021qxi.1_Missense_Mutation_p.S343F NM_138371 NP_612380 Q96HM7 F113B_HUMAN Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA. 343 Pro-rich. hydrolase activity p.S343F(2) NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10) 35 Renal(347;0.138)|Lung SC(27;0.192) GCCTGTTTTTCCTCAGACCAT 0.542000 139 24 0 0 1 0 0 MDS2 259283 broad.mit.edu 37 1 23908127 23908127 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:23908127C>T uc001bhi.3 + 0 c.143C>T Homo sapiens myelodysplastic syndrome 2 translocation associated (MDS2), non-coding RNA. breast(1)|ovary(2) 3 aaactgggttcctctaagccc 0.557000 T ETV6 MDS 16 4 0 0 1 0 0 LGR6 59352 broad.mit.edu 37 1 202163309 202163309 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:202163309G>A uc001gxu.3 + 0 192 c.192G>A c.(190-192)ctG>ctA p.L64L NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA. 64 LRRNT. integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 CGGGGGACCTGGACCCCCTGA 0.726000 42 7 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89357214 89357215 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:89357214_89357215GG>AA uc002fmx.1 - 5 880_881 c.419_420CC>TT c.(418-420)ccc>cTT p.P140L ANKRD11_uc002fmy.1_Missense_Mutation_p.P140L|ANKRD11_uc002fnc.1_Missense_Mutation_p.P140L|ANKRD11_uc002fnd.3_Missense_Mutation_p.P106L|ANKRD11_uc002fne.3_Missense_Mutation_p.P106L|ANKRD11_uc002fnb.1_Missense_Mutation_p.P97L NM_013275 NP_037407 Q6UB99 ANR11_HUMAN Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA. 140 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TAGACTGGGAGGGGTGCTTTGG 0.554000 85 8 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90340826 90340826 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:90340826C>T uc002bop.4 - 14 2429 c.2137G>A c.(2137-2139)Gag>Aag p.E713K NM_001150 NP_001141 P15144 AMPN_HUMAN Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA. 713 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms ER-Golgi intermediate compartment|cytosol|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) CCATAGACCTCGGAGCGGTCA 0.527000 118 11 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64594866 64594866 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:64594866C>A uc001obs.4 - 32 4155 c.4155G>T c.(4153-4155)aaG>aaT p.K1385N NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA. 1385 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 CGAACTCGTCCTTCTCTGTGG 0.637000 113 17 1.96292e-10 1.99102e-10 1 1 0 NAV2 89797 broad.mit.edu 37 11 20113831 20113831 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:20113831C>T uc010rdm.2 + 29 6261 c.5900C>T c.(5899-5901)tCc>tTc p.S1967F NAV2_uc001mpp.3_Missense_Mutation_p.S1847F|NAV2_uc001mpr.4_Missense_Mutation_p.S1911F|NAV2_uc021qew.1_Missense_Mutation_p.S1914F|NAV2_uc009yhx.3_Missense_Mutation_p.S975F|NAV2_uc009yhz.3_Missense_Mutation_p.S556F|NAV2_uc001mpu.3_Missense_Mutation_p.S349F NM_001244963 NP_001231892 Q8IVL1 NAV2_HUMAN Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA. 1970 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CGGGCTCCTTCCCAAGTGTCC 0.562000 80 8 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47408377 47408377 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:47408377G>A uc003tnw.3 - 16 2224 c.1866C>T c.(1864-1866)ctC>ctT p.L622L TNS3_uc022acn.1_Silent_p.L179L NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN Homo sapiens tensin 3 (TNS3), mRNA. 622 focal adhesion protein binding p.L622L(2) NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 GGGCCTGGACGAGGCCAGGAT 0.667000 83 6 0 0 1 0 0 AP5Z1 9907 broad.mit.edu 37 7 4820812 4820812 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:4820812C>T uc003sne.3 + 1 133 c.48C>T c.(46-48)atC>atT p.I16I AP5Z1_uc010ksp.3_Non-coding_Transcript NM_014855 NP_055670 O43299 K0415_HUMAN Homo sapiens KIAA0415 (KIAA0415), mRNA. 16 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding TTAGGGAGATCCAGGACGAGG 0.542000 75 9 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128486211 128486211 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:128486211G>A uc003vnz.4 + 21 4167 c.3958G>A c.(3958-3960)Gag>Aag p.E1320K FLNC_uc003voa.4_Missense_Mutation_p.E1320K NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 1320 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CACCGCCTACGAGGAGGGTGA 0.662000 30 12 0 0 1 0 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032628 46032628 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:46032628G>A uc002zfo.1 + 0 633 c.611G>A c.(610-612)aGa>aAa p.R204K TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198695 NP_941968 P60410 KR108_HUMAN Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA. 204 19 X 5 AA repeats of C-C-X(3). keratin filament breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 17 TCCTGCTGCAGACCCTCCTCC 0.662000 127 13 0 0 1 0 0 PTPRN 5798 broad.mit.edu 37 2 220172257 220172257 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:220172257C>T uc002vkz.3 - 2 430 c.189G>A c.(187-189)caG>caA p.Q63Q PTPRN_uc010zlc.2_5'UTR|PTPRN_uc002vla.3_Silent_p.Q63Q NM_002846 NP_001186693 Q16849 PTPRN_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA. 63 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) CCACTCCCACCTGGCACTGCC 0.552000 73 20 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154397107 154397107 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:154397107G>A uc010jih.1 + 0 3848 c.3688G>A c.(3688-3690)Gaa>Aaa p.E1230K NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 1230 Globular (By similarity).|Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CTCCCCTATCGAAGAAGAGGC 0.483000 14 3 0 0 1 0 0 SMEK2 57223 broad.mit.edu 37 2 55826002 55826002 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:55826002G>A uc002rzc.3 - 3 1163 c.471C>T c.(469-471)atC>atT p.I157I SMEK2_uc002rzb.3_Silent_p.I157I|SMEK2_uc002rzd.3_Silent_p.I157I|SMEK2_uc002rza.3_Silent_p.I33I NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA. 157 microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TTTCCCTACGGATAGGTGAGG 0.433000 113 8 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120702595 120702595 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:120702595C>T uc001pxn.2 + 6 833 c.546C>T c.(544-546)ttC>ttT p.F182F GRIK4_uc009zav.1_Silent_p.F182F|GRIK4_uc009zaw.1_Silent_p.F182F|GRIK4_uc009zax.1_Silent_p.F182F NM_014619 NP_055434 Q16099 GRIK4_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA. 182 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) TCCGGCAATTCCTTATCTCCA 0.602000 58 5 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25019871 25019871 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:25019871G>A uc003aan.1 + 10 1495 c.1008G>A c.(1006-1008)gtG>gtA p.V336V GGT1_uc003aas.1_Silent_p.V336V|GGT1_uc003aat.1_Silent_p.V336V|GGT1_uc003aau.2_Silent_p.V336V|GGT1_uc003aav.2_Silent_p.V336V|GGT1_uc003aaw.2_Silent_p.V336V|GGT1_uc003aax.2_Silent_p.V336V NM_013430 NP_038347 P19440 GGT1_HUMAN Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA. 336 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) CCAAGTTTGTGGATGTGACTG 0.627000 21 3 0 0 1 0 0 C1QTNF3 114899 broad.mit.edu 37 5 34043183 34043183 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:34043183G>A uc003jio.3 - 0 189 c.48C>T c.(46-48)ttC>ttT p.F16F C1QTNF3_uc003jin.3_Silent_p.F16F NM_181435 NP_852100 Q9BXJ4 C1QT3_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 3 (C1QTNF3), transcript variant 2, mRNA. 0 collagen breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1) 17 all_lung(31;0.0207) AAAAAGGGAGGAAAAACAAAG 0.493000 40 6 0 0 1 0 0 JMJD6 23210 broad.mit.edu 37 17 74719996 74719996 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:74719996G>A uc002jso.3 - 2 987 c.663C>T c.(661-663)acC>acT p.T221T JMJD6_uc002jsn.1_Silent_p.T221T|METTL23_uc021udk.1_5'Flank|METTL23_uc002jsr.3_5'Flank|METTL23_uc021udl.1_5'Flank|METTL23_uc021udm.1_5'Flank|METTL23_uc002jst.3_5'Flank|METTL23_uc021udn.1_5'Flank|METTL23_uc002jsu.3_5'Flank NM_015167 NP_055982 Q6NYC1 JMJD6_HUMAN Homo sapiens jumonji domain containing 6 (JMJD6), transcript variant 2, mRNA. 221 JmjC. RNA splicing|mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|sprouting angiogenesis|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2) 16 CTTCGTCTCGGGTCACTTTGA 0.537000 97 34 0 0 1 0 0 MAN1C1 57134 broad.mit.edu 37 1 26104628 26104628 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:26104628C>T uc001bkm.2 + 8 1620 c.1290C>T c.(1288-1290)ccC>ccT p.P430P MAN1C1_uc009vry.1_Silent_p.P250P NM_020379 NP_065112 Q9NR34 MA1C1_HUMAN Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA. 430 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) ATGTCTCTCCCGGGGGGCTGA 0.642000 56 10 0 0 1 0 0 PSMA1 5682 broad.mit.edu 37 11 14526751 14526751 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:14526751G>A uc001mll.3 - 10 1142 c.797C>T c.(796-798)cCa>cTa p.P266L PSMA1_uc010rcp.1_Non-coding_Transcript|PSMA1_uc001mlk.3_Missense_Mutation_p.P260L NM_148976 NP_683877 P25786 PSA1_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 1 (PSMA1), transcript variant 1, mRNA. 260 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex RNA binding|protein binding|threonine-type endopeptidase activity large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 3 ATGTTCCATTGGTTCATCAGC 0.338000 109 7 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68192669 68192669 + Missense_Mutation SNP C G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:68192669C>G uc001ont.3 + 14 3411 c.3336C>G c.(3334-3336)atC>atG p.I1112M LRP5_uc009ysg.3_Missense_Mutation_p.I522M NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 1112 Beta-propeller 4. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCGGCCTCATCCGCCCTGTGG 0.642000 40 3 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128327391 128327391 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:128327391G>A uc002top.3 + 5 551 c.498G>A c.(496-498)gaG>gaA p.E166E NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN Homo sapiens myosin VIIB (MYO7B), mRNA. 166 Myosin head-like. apical plasma membrane|myosin complex ATP binding|actin binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GCAAGACGGAGACCACCAAGC 0.557000 21 3 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58112433 58112433 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:58112433C>T uc003djj.2 + 23 4331 c.4166C>T c.(4165-4167)cCt>cTt p.P1389L FLNB_uc010hne.2_Missense_Mutation_p.P1389L|FLNB_uc003djk.2_Missense_Mutation_p.P1389L|FLNB_uc010hnf.2_Missense_Mutation_p.P1389L|FLNB_uc003djl.2_Missense_Mutation_p.P1220L|FLNB_uc003djm.2_Missense_Mutation_p.P1220L NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 1389 Interaction with FBLP1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GAGTACATTCCTTTCGCACCG 0.488000 75 6 0 0 1 0 0 CSF2RA 1438 broad.mit.edu 37 X 1404725 1404725 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:1404725C>T uc010nct.2 + 4 453 c.131C>T c.(130-132)aCg>aTg p.T44M CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.T44M|CSF2RA_uc004cpq.2_Missense_Mutation_p.T44M|CSF2RA_uc004cpn.2_Missense_Mutation_p.T44M|CSF2RA_uc004cpo.2_Missense_Mutation_p.T44M|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Intron|CSF2RA_uc004cpp.2_Missense_Mutation_p.T44M|CSF2RA_uc010ncv.2_Missense_Mutation_p.T44M|CSF2RA_uc004cpr.2_Missense_Mutation_p.T44M NM_001161529 NP_001155004 P15509 CSF2R_HUMAN Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA. 44 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GACTCCAGGACGATGAATTTA 0.478000 178 11 0 0 1 0 0 OR9A2 135924 broad.mit.edu 37 7 142724187 142724187 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:142724187G>A uc003wcc.1 - 0 33 c.33C>T c.(31-33)ttC>ttT p.F11F NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA. 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) CTAGAAGGTGGAATTCAGTGG 0.428000 39 4 0 0 1 0 0 SLC22A8 9376 broad.mit.edu 37 11 62760937 62760937 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:62760937C>T uc009yon.3 - 9 1609 c.1488G>A c.(1486-1488)ctG>ctA p.L496L SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc009yom.3_Silent_p.L373L|SLC22A8_uc001nwo.3_Silent_p.L496L|SLC22A8_uc010rmm.2_Silent_p.L405L|SLC22A8_uc001nwp.2_Silent_p.L496L NM_001184732 NP_001171665 Q8TCC7 S22A8_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA. 496 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 AGGGCTGATTCAGGGTCTCAG 0.592000 88 17 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142458518 142458518 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:142458518C>T uc003wak.2 + 1 170 c.153C>T c.(151-153)tcC>tcT p.S51S TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Missense_Mutation_p.P27S|PRSS1_uc003wam.2_5'Flank NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 51 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GTGGTGGCTCCCTCATCAACG 0.562000 53 10 0 0 1 0 0 MICALL2 79778 broad.mit.edu 37 7 1481878 1481879 + Missense_Mutation DNP GG AA AA rs139735568 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:1481878_1481879GG>AA uc003skj.4 - 6 1807_1808 c.1660_1661CC>TT c.(1660-1662)ccg>TTg p.P554L MICALL2_uc003ski.4_Missense_Mutation_p.P41L NM_182924 NP_891554 Q8IY33 MILK2_HUMAN Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA. 554 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) CTCTGGCTTCGGCCTGGAGCCA 0.678000 124 10 0 0 1 0 0 ZFYVE27 118813 broad.mit.edu 37 10 99517446 99517446 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:99517446C>T uc001kol.2 + 11 1343 c.1137C>T c.(1135-1137)tcC>tcT p.S379S ZFYVE27_uc010qpc.2_Non-coding_Transcript|ZFYVE27_uc001kom.2_Silent_p.S372S|ZFYVE27_uc010qpb.2_Silent_p.S279S|ZFYVE27_uc010qpd.2_Silent_p.S340S|ZFYVE27_uc001koq.3_Silent_p.S286S|ZFYVE27_uc010qpa.2_Silent_p.S254S|ZFYVE27_uc021pwq.1_Silent_p.S384S NM_144588 NP_653189 Q5T4F4 ZFY27_HUMAN Homo sapiens zinc finger, FYVE domain containing 27 (ZFYVE27), transcript variant 2, mRNA. 379 cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane metal ion binding|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 8 Colorectal(252;0.0846) Epithelial(162;7.08e-10)|all cancers(201;5.18e-08) GATGCTGCTCCTTCAAGGTGC 0.597000 101 24 0 0 1 0 0 HMHA1 23526 broad.mit.edu 37 19 1068724 1068724 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:1068724G>A uc002lqz.1 + 1 633 c.402G>A c.(400-402)aaG>aaA p.K134K HMHA1_uc010xgd.1_Silent_p.K150K|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_5'Flank NM_012292 NP_036424 Q92619 HMHA1_HUMAN Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA. 134 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGAAACTTAAGGAGTGTGTGT 0.662000 45 6 0 0 1 0 0 C19orf45 374877 broad.mit.edu 37 19 7570920 7570920 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:7570920G>A uc002mgm.2 + 6 1217 c.1076G>A c.(1075-1077)gGg>gAg p.G359E C19orf45_uc010xjo.1_Missense_Mutation_p.G31E NM_198534 NP_940936 Q8NA69 CS045_HUMAN Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA. 359 endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8 GTGACCCTAGGGGAGCCAAAG 0.582000 56 10 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31590869 31590869 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:31590869C>T uc002rnv.1 - 19 2234 c.2155G>A c.(2155-2157)Gac>Aac p.D719N NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 719 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TTCTTTAGGTCCCCTTTCTCG 0.458000 122 6 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25049707 25049707 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:25049707G>A uc001upl.3 - 14 1923 c.1817C>T c.(1816-1818)tCc>tTc p.S606F PARP4_uc010tdc.2_Missense_Mutation_p.S606F NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA. 606 DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) GGTGCTGCTGGAAGTTTTGGC 0.438000 54 12 0 0 1 0 0 LGI2 55203 broad.mit.edu 37 4 25014024 25014024 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:25014024C>T uc003grf.2 - 6 852 c.753G>A c.(751-753)atG>atA p.M251I NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA. 251 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) TGCAGTTCTCCATGCTGGGCT 0.473000 49 5 0 0 1 0 0 SLC9A9 285195 broad.mit.edu 37 3 143186016 143186016 + Silent SNP G A A rs141105678 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:143186016G>A uc003evn.3 - 11 1541 c.1332C>T c.(1330-1332)atC>atT p.I444I NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA. 444 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 AGGCAAATGCGATCGCTCCTC 0.428000 15 4 0 0 1 0 0 FNBP4 23360 broad.mit.edu 37 11 47776086 47776086 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:47776086G>A uc009ylv.3 - 2 597 c.444C>T c.(442-444)ttC>ttT p.F148F FNBP4_uc001ngj.3_Silent_p.F55F|FNBP4_uc001ngl.2_Intron NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN Homo sapiens formin binding protein 4 (FNBP4), mRNA. 148 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 TAACCGCTAGGAAGTTGGCCA 0.418000 44 4 0 0 1 0 0 DIRAS3 9077 broad.mit.edu 37 1 68512546 68512546 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:68512546G>A uc021ooq.1 - 0 435 c.435C>T c.(433-435)ttC>ttT p.F145F GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|DIRAS3_uc001ded.3_Silent_p.F145F NM_004675 NP_004666 O95661 DIRA3_HUMAN Homo sapiens DIRAS family, GTP-binding RAS-like 3 (DIRAS3), mRNA. 145 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GCACGATGGGGAACTTATGCA 0.527000 113 36 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595819 140595819 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140595819C>T uc003lja.1 + 0 2311 c.2124C>T c.(2122-2124)ttC>ttT p.F708F NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN Homo sapiens protocadherin beta 13 (PCDHB13), mRNA. 708 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.F708F(2) NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCTCCTGTTCGTGGCGGTGC 0.677000 162 12 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9045903 9045903 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9045903C>T uc002mkp.3 - 4 35932 c.35728G>A c.(35728-35730)Gat>Aat p.D11910N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11912 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGGGCTTATCAGTTGTTATA 0.507000 57 13 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325007 150325007 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:150325007C>T uc022apv.1 - 2 1369 c.889G>A c.(889-891)Gaa>Aaa p.E297K GIMAP6_uc003whn.3_Missense_Mutation_p.E227K|GIMAP6_uc003whm.3_3'UTR NM_001244072 NP_001231001 Q6P9H5 GIMA6_HUMAN Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA. 227 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TAATCTCCTTCGTTTTCCCAC 0.512000 102 9 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49671939 49671939 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:49671939C>T uc002pmw.3 + 5 850 c.742C>T c.(742-744)Cgc>Tgc p.R248C TRPM4_uc010emu.3_Missense_Mutation_p.R248C|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Missense_Mutation_p.R74C|TRPM4_uc010emv.3_Missense_Mutation_p.R133C|TRPM4_uc010yal.2_5'UTR NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA. 248 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GGGCGAGAACCGCTTCCGCTT 0.642000 15 4 0 0 1 0 0 HTR1B 3351 broad.mit.edu 37 6 78172485 78172485 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:78172485G>A uc003pil.1 - 0 636 c.636C>T c.(634-636)tcC>tcT p.S212S NM_000863 NP_000854 P28222 5HT1B_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1B (HTR1B), mRNA. 212 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 25 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) CACCCACCGTGGAGTAGACCG 0.587000 24 8 0 0 1 0 0 ENDOD1 23052 broad.mit.edu 37 11 94861746 94861746 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:94861746C>T uc001pfh.3 + 1 624 c.506C>T c.(505-507)tCc>tTc p.S169F NM_015036 NP_055851 O94919 ENDD1_HUMAN Homo sapiens endonuclease domain containing 1 (ENDOD1), mRNA. 169 extracellular region endonuclease activity|metal ion binding|nucleic acid binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824) ATGACTCAGTCCTTCCAGGAA 0.502000 36 7 0 0 1 0 0 KLC1 3831 broad.mit.edu 37 14 104040507 104040507 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:104040507G>A uc010tyd.1 + 3 425 c.385_splice c.e3+1 p.G129_splice KLC1_uc010tyc.2_Splice_Site_p.G142_splice NM_005552 NP_005543 Q07866 KLC1_HUMAN Homo sapiens kinesin light chain 1 (KLC1), transcript variant 1, mRNA. 88 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) AACTGAATCAGGTTAGTGTGT 0.373000 65 11 0 0 1 0 0 USP25 29761 broad.mit.edu 37 21 17191061 17191061 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:17191061C>T uc011aby.1 + 9 1193 c.976C>T c.(976-978)Cag>Tag p.Q326* USP25_uc002yjz.1_Nonsense_Mutation_p.Q326*|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Nonsense_Mutation_p.Q326* NM_013396 NP_037528 Q9UHP3 UBP25_HUMAN Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA. 326 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2) 52 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) GTACCCACTTCAGGTCAATGG 0.363000 22 6 0 0 1 0 0 GDF7 151449 broad.mit.edu 37 2 20870930 20870930 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:20870930G>A uc002rdz.1 + 1 1674 c.1098G>A c.(1096-1098)tgG>tgA p.W366* NM_182828 NP_878248 Q7Z4P5 GDF7_HUMAN Homo sapiens growth differentiation factor 7 (GDF7), mRNA. 366 BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGACGACTGGATCATCGCGC 0.692000 27 8 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31142942 31142942 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:31142942G>A uc003tca.2 + 13 1427 c.1138G>A c.(1138-1140)Gaa>Aaa p.E380K ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.E408K|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.E407K|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.E359K|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.E408K|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.E138K NM_001118 NP_001109 P41586 PACR_HUMAN Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA. 380 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 CAGCAAAAGGGAAAGACTCGT 0.587000 109 8 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38781841 38781841 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:38781841G>A uc021yzh.1 + 24 3378 c.3269G>A c.(3268-3270)cGa>cAa p.R1090Q DNAH8_uc003ooe.2_Missense_Mutation_p.R873Q NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. p.E1089Q(1) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CTTTATGGGCGAAAGCAGTCA 0.313000 40 4 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42750534 42750534 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:42750534G>A uc003cly.4 - 15 2170 c.2086C>T c.(2086-2088)Ctg>Ttg p.L696L NM_144719 NP_653320 Q8IYE1 CCD13_HUMAN Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA. 696 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 ACCTGGCCCAGGATCTCATGG 0.617000 56 4 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92534885 92534885 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:92534885C>T uc001pdj.4 + 8 8723 c.8706C>T c.(8704-8706)ttC>ttT p.F2902F NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 2902 Cadherin 26. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GAGAGGCATTCTCTCTTTCCT 0.522000 TCGA Ovarian(4;0.039) 145 11 0 0 1 0 0 SIDT1 54847 broad.mit.edu 37 3 113329877 113329877 + Silent SNP C T T rs145960933 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:113329877C>T uc021xcn.1 + 17 2394 c.1743C>T c.(1741-1743)atC>atT p.I581I SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Silent_p.I581I|SIDT1_uc011big.2_Silent_p.I334I|SIDT1_uc021xcq.1_Silent_p.I34I|SIDT1_uc011bii.2_Silent_p.I34I NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA. 581 integral to membrane p.I581I(2)|p.M580L(1)|p.M580T(1) breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 TGTACATGATCGCTGGCCTGT 0.498000 56 4 0 0 1 0 0 KBTBD10 10324 broad.mit.edu 37 2 170367264 170367264 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:170367264C>T uc002ueu.1 + 0 1053 c.976C>T c.(976-978)Ctt>Ttt p.L326F KBTBD10_uc010zdh.1_Intron NM_006063 NP_006054 O60662 KBTBA_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA. 326 striated muscle contraction centrosome|nucleolus|plasma membrane|pseudopodium|ruffle breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1) 19 TGAATGCTACCTTACTGCACT 0.433000 75 5 0 0 1 0 0 TBC1D5 9779 broad.mit.edu 37 3 17349598 17349598 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:17349598C>T uc010hev.3 - 14 1288 c.1024G>A c.(1024-1026)Gag>Aag p.E342K TBC1D5_uc010heu.3_5'UTR|TBC1D5_uc003cbf.3_Missense_Mutation_p.E342K|TBC1D5_uc003cbe.3_Missense_Mutation_p.E342K|TBC1D5_uc010hew.1_Missense_Mutation_p.E294K NM_001134381 NP_001127853 Q92609 TBCD5_HUMAN Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA. 342 Rab-GAP TBC. intracellular Rab GTPase activator activity|protein binding p.E342K(2) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 AGGGGGAACTCTCGTCCAAAT 0.438000 8 3 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17482217 17482217 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:17482217C>T uc001mnc.3 - 5 955 c.829G>A c.(829-831)Gac>Aac p.D277N ABCC8_uc010rcy.1_Missense_Mutation_p.D276N NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 277 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CCCTGAATGTCCTTCCGCTGC 0.637000 124 29 0 0 1 0 0 SLC3A1 6519 broad.mit.edu 37 2 44502933 44502933 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:44502933G>A uc002ruc.4 + 0 337 c.259G>A c.(259-261)Gag>Aag p.E87K SLC3A1_uc002rty.3_Missense_Mutation_p.E87K|SLC3A1_uc002rtz.2_Missense_Mutation_p.E87K|SLC3A1_uc002rua.3_Missense_Mutation_p.E87K|SLC3A1_uc002rub.2_Missense_Mutation_p.E87K NM_000341 NP_000332 Q07837 SLC31_HUMAN Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA. 87 carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) CATACCTCGGGAGATCCTCTT 0.617000 75 7 0 0 1 0 0 STARD6 147323 broad.mit.edu 37 18 51858160 51858160 + Missense_Mutation SNP C T T rs145044397 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:51858160C>T uc010xdt.2 - 3 337 c.337G>A c.(337-339)Gac>Aac p.D113N NM_139171 NP_631910 P59095 STAR6_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA. 113 START. lipid transport lipid binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2) 8 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) TACACTAAGTCGATAAAGTCT 0.378000 30 4 0 0 1 0 0 TMEM144 55314 broad.mit.edu 37 4 159161564 159161564 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:159161564C>T uc003ipx.3 + 9 1316 c.796C>T c.(796-798)Cta>Tta p.L266L TMEM144_uc010iqi.3_Non-coding_Transcript NM_018342 NP_060812 Q7Z5S9 TM144_HUMAN Homo sapiens transmembrane protein 144 (TMEM144), mRNA. 266 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1) 19 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) TGAAGCAGTCCTACCAGGTAA 0.378000 18 4 0 0 1 0 0 JAK1 3716 broad.mit.edu 37 1 65330538 65330539 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:65330538_65330539GG>AA uc001dbu.1 - 7 1356_1357 c.1107_1108CC>TT c.(1105-1110)ttccct>ttTTct p.P370S JAK1_uc009wam.1_Missense_Mutation_p.P370S NM_002227 NP_002218 P23458 JAK1_HUMAN Homo sapiens Janus kinase 1 (JAK1), mRNA. 370 FERM. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) GTGATTTCAGGGAAGTAAGAAA 0.376000 Mis ALL 33 4 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183600872 183600872 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:183600872G>A uc003ivd.1 + 6 1455 c.1380G>A c.(1378-1380)cgG>cgA p.R460R ODZ3_uc003ive.1_5'Flank NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 460 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GAGAGCAGCGGAGCCTGCTTG 0.572000 55 4 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21078726 21078726 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:21078726C>T uc010vbe.2 - 23 3396 c.3396G>A c.(3394-3396)agG>agA p.R1132R NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 1132 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CCACCAGAATCCTGTTATCTT 0.453000 33 6 0 0 1 0 0 TNFRSF8 943 broad.mit.edu 37 1 12170185 12170185 + Silent SNP C T T rs145520020 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12170185C>T uc001atq.3 + 5 822 c.600C>T c.(598-600)ctC>ctT p.L200L TNFRSF8_uc010obc.2_Silent_p.L89L NM_001243 NP_001234 P28908 TNR8_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA. 200 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) GCACCCGCCTCGCCCAGGAAG 0.627000 61 15 0 0 1 0 0 C1orf55 163859 broad.mit.edu 37 1 226175879 226175879 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:226175879G>A uc001hpu.4 - 5 905 c.852C>T c.(850-852)atC>atT p.I284I NM_152608 NP_689821 Q6IQ49 CA055_HUMAN Homo sapiens chromosome 1 open reading frame 55 (C1orf55), mRNA. 284 central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(13)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(184;0.197) CAGTCACCGGGATCTGCAGTT 0.498000 119 8 0 0 1 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66988935 66988935 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:66988935G>A uc003xvs.1 + 3 451 c.160G>A c.(160-162)Gat>Aat p.D54N DNAJC5B_uc003xvt.1_Non-coding_Transcript NM_033105 NP_149096 Q9UF47 DNJ5B_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA. 54 J. protein folding membrane heat shock protein binding|unfolded protein binding endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) GAATCCAGATGATCCAGCTGC 0.403000 44 6 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154157483 154157483 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:154157483C>T uc004fmt.3 - 13 4753 c.4582G>A c.(4582-4584)Gaa>Aaa p.E1528K NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 1528 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTGCTAGTTTCCGTAGGGAAT 0.478000 23 6 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28934682 28934682 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:28934682C>T uc002kwp.3 + 14 2735 c.2523C>T c.(2521-2523)taC>taT p.Y841Y DSG1_uc010xbp.2_Silent_p.Y200Y NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 841 Y -> F (in dbSNP:rs3752095). calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) CCGAGTCTTACACCACCTCTG 0.527000 115 6 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43287194 43287194 + Silent SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:43287194T>G uc001jaj.3 + 5 1114 c.756T>G c.(754-756)tcT>tcG p.S252S NM_014753 NP_055568 Q14692 BMS1_HUMAN Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA. 252 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GGCAAACTTCTCACCCTTATA 0.373000 118 7 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140574446 140574446 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140574446C>T uc003lix.3 + 0 2495 c.2321C>T c.(2320-2322)tCg>tTg p.S774L NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN Homo sapiens protocadherin beta 10 (PCDHB10), mRNA. 774 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCAGTTATTTCGGATATTCAG 0.488000 46 7 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13727687 13727687 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:13727687C>T uc003jfd.2 - 69 12004 c.11962G>A c.(11962-11964)Gat>Aat p.D3988N DNAH5_uc003jfc.2_Missense_Mutation_p.D156N NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3988 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGAGATTTATCATAGGCATTT 0.388000 Kartagener syndrome 19 6 0 0 1 0 0 ZNF578 147660 broad.mit.edu 37 19 53008018 53008018 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:53008018G>A uc002pzp.4 + 4 418 c.174G>A c.(172-174)agG>agA p.R58R NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN Homo sapiens zinc finger protein 578 (ZNF578), mRNA. 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) AGAACTACAGGAACCTGGAGG 0.478000 87 18 0 0 1 0 0 FXYD7 53822 broad.mit.edu 37 19 35642569 35642569 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:35642569C>T uc002nye.1 + 4 297 c.213C>T c.(211-213)ccC>ccT p.P71P NM_022006 NP_071289 P58549 FXYD7_HUMAN Homo sapiens FXYD domain containing ion transport regulator 7 (FXYD7), mRNA. 71 integral to membrane ion channel activity NS(1)|endometrium(1)|lung(1) 3 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849) CTGAGCTTCCCTCTTCAGGTG 0.527000 61 7 0 0 1 0 0 KRTAP4-2 85291 broad.mit.edu 37 17 39334189 39334189 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39334189G>A uc002hwd.3 - 0 272 c.228C>T c.(226-228)tgC>tgT p.C76C NM_033062 NP_149051 Q9BYR5 KRA42_HUMAN Homo sapiens keratin associated protein 4-2 (KRTAP4-2), mRNA. 76 20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament kidney(2)|lung(4)|upper_aerodigestive_tract(1) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) AGCTGGGACGGCAGCAGGTGG 0.667000 75 9 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 96706395 96706395 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:96706395G>A uc010how.1 + 2 715 c.672G>A c.(670-672)atG>atA p.M224I EPHA6_uc003drp.1_Missense_Mutation_p.M224I NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 129 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TGTTTTATATGGAATCAGATG 0.388000 40 4 0 0 1 0 0 TCN2 6948 broad.mit.edu 37 22 31011769 31011769 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:31011769C>T uc003aip.2 + 5 1184 c.935C>T c.(934-936)cCa>cTa p.P312L TCN2_uc003air.2_Missense_Mutation_p.P285L NM_000355 NP_000346 P20062 TCO2_HUMAN Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA. 312 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1) 22 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGTCTGGCACCACGAGGTAGC 0.527000 84 5 0 0 1 0 0 DLK2 65989 broad.mit.edu 37 6 43418411 43418411 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:43418411C>T uc003ova.3 - 5 1227 c.1018G>A c.(1018-1020)Gga>Aga p.G340R DLK2_uc003ovb.3_Missense_Mutation_p.G340R NM_023932 NP_996262 Q6UY11 DLK2_HUMAN Homo sapiens delta-like 2 homolog (Drosophila) (DLK2), transcript variant 1, mRNA. 340 integral to membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CAACAGGGTCCAGGGGGGCAG 0.657000 40 5 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27024690 27024690 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:27024690C>T uc010crt.3 + 31 4454 c.4262C>T c.(4261-4263)tCc>tTc p.S1421F SUPT6H_uc002hby.3_Missense_Mutation_p.S1421F NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA. 1421 SH2. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CCCATGGCATCCTTTGCCCGG 0.522000 61 5 0 0 1 0 0 OR1D2 4991 broad.mit.edu 37 17 2996156 2996156 + Silent SNP G A A rs147499202 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:2996156G>A uc010vrb.2 - 0 135 c.135C>T c.(133-135)atC>atT p.I45I NM_002548 NP_002539 P34982 OR1D2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA. 45 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 TGGCCAGGATGATGAGCACAT 0.547000 43 6 0 0 1 0 0 FAM75C1 441452 broad.mit.edu 37 9 90536029 90536029 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:90536029C>T uc010mqi.3 + 3 1236 c.1207C>T c.(1207-1209)Cct>Tct p.P403S FAM75C1_uc004apq.4_Missense_Mutation_p.P386S NM_001145124 NP_001138596 Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA. AACTCAGCACCCTGAAAGGCC 0.488000 226 38 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152841653 152841653 + Nonsense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:152841653T>A uc021zhb.1 - 3 473 c.250A>T c.(250-252)Aag>Tag p.K84* SYNE1_uc003qot.4_Nonsense_Mutation_p.K84*|SYNE1_uc003qou.4_Nonsense_Mutation_p.K84*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.K84*|SYNE1_uc003qpa.1_Nonsense_Mutation_p.K84* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 84 Actin-binding.|CH 1. Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGGATTCGCTTCATCCGGCGT 0.398000 HNSCC(10;0.0054) 22 4 0 0 1 0 0 FZD5 7855 broad.mit.edu 37 2 208631716 208631716 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:208631716G>A uc021vvr.1 - 0 1748 c.1748C>T c.(1747-1749)tCg>tTg p.S583L FZD5_uc002vcj.3_Missense_Mutation_p.S583L NM_003468 NP_003459 Q13467 FZD5_HUMAN Homo sapiens frizzled family receptor 5 (FZD5), mRNA. 583 Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification|angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development Golgi membrane|cell projection|cell surface|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding|protein kinase binding NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134) CTACACGTGCGACAGGGACAC 0.687000 75 9 0 0 1 0 0 ZNF816 125893 broad.mit.edu 37 19 53454121 53454121 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:53454121G>A uc002qal.2 - 4 1258 c.907C>T c.(907-909)Cat>Tat p.H303Y ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Missense_Mutation_p.H303Y|ZNF816_uc002qam.2_Missense_Mutation_p.H303Y NM_001031665 NP_001189386 Q0VGE8 ZN816_HUMAN Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA. 303 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 AGTCTACGATGGCATACAAGG 0.418000 94 7 0 0 1 0 0 CATSPER3 347732 broad.mit.edu 37 5 134332079 134332079 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:134332079C>T uc003lag.3 + 2 455 c.369C>T c.(367-369)atC>atT p.I123I NM_178019 NP_821138 Q86XQ3 CTSR3_HUMAN Homo sapiens cation channel, sperm associated 3 (CATSPER3), mRNA. 123 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCATTATCATCGTTATGTTTT 0.483000 34 6 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124297915 124297915 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:124297915C>T uc001uft.4 + 18 3020 c.2995C>T c.(2995-2997)Ctc>Ttc p.L999F DNAH10_uc010tav.1_Missense_Mutation_p.L541F|DNAH10_uc010taw.1_Missense_Mutation_p.L484F NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 999 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GTATCGACCTCTCTGGAAATT 0.398000 82 8 0 0 1 0 0 TUBA4A 7277 broad.mit.edu 37 2 220116371 220116371 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:220116371C>T uc002vkt.1 - 2 349 c.291G>A c.(289-291)gaG>gaA p.E97E TUBA4A_uc010zkz.1_Silent_p.E82E|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank NM_006000 NP_005991 P68366 TBA4A_HUMAN Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA. 97 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGCAGCATCCTCTTTCCCAG 0.527000 39 4 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122002763 122002763 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:122002763C>T uc003eew.4 + 6 2430 c.1992C>T c.(1990-1992)ctC>ctT p.L664L CASR_uc003eev.4_Silent_p.L654L NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 654 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CCTACCTCCTCCTCTTCTCCC 0.592000 96 6 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1652269 1652269 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:1652269G>A uc002qxa.3 - 16 3347 c.3283C>T c.(3283-3285)Cac>Tac p.H1095Y NM_012293 NP_036425 Q92626 PXDN_HUMAN Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA. 1095 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity p.H1095L(1) breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AGGGGGAGGTGATCTTGTGCA 0.582000 19 4 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3920960 3920960 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:3920960G>A uc002fxe.3 - 47 7770 c.7706C>T c.(7705-7707)tCc>tTc p.S2569F ZZEF1_uc002fxg.1_5'Flank NM_015113 NP_055928 O43149 ZZEF1_HUMAN Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA. 2569 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CTCTGTGCTGGAGATCAGCTT 0.587000 54 6 0 0 1 0 0 TMC6 11322 broad.mit.edu 37 17 76117646 76117646 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:76117646G>A uc002juj.1 - 9 1500 c.1374C>T c.(1372-1374)ttC>ttT p.F458F TMC6_uc002jui.1_Silent_p.F97F|TMC6_uc010dhf.1_Silent_p.F291F|TMC6_uc002juk.2_Silent_p.F458F|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Silent_p.F458F|TMC6_uc002jum.4_Silent_p.F249F|TMC6_uc002jun.4_Silent_p.F458F|TMC6_uc002juo.2_Silent_p.F231F NM_007267 NP_009198 Q7Z403 TMC6_HUMAN Homo sapiens transmembrane channel-like 6 (TMC6), transcript variant 2, mRNA. 458 endoplasmic reticulum membrane|integral to membrane NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 14 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CCTGGATCATGAACTCCGAGA 0.701000 40 10 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26423375 26423375 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:26423375G>A uc003abz.1 + 42 7685 c.7435G>A c.(7435-7437)Gag>Aag p.E2479K MYO18B_uc003aca.1_Missense_Mutation_p.E2360K|MYO18B_uc010guy.1_Missense_Mutation_p.E2361K|MYO18B_uc010guz.1_Missense_Mutation_p.E2359K|MYO18B_uc011aka.1_Missense_Mutation_p.E1633K|MYO18B_uc011akb.1_Missense_Mutation_p.E1992K|MYO18B_uc010gva.1_Missense_Mutation_p.E462K|MYO18B_uc010gvb.1_Non-coding_Transcript NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2479 nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TGAAACGGAAGAGGCTAACCG 0.562000 53 6 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42049977 42049977 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:42049977G>A uc001cgz.4 - 3 1705 c.492C>T c.(490-492)ttC>ttT p.F164F HIVEP3_uc001cha.4_Silent_p.F164F|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 164 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.F164F(2) NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GACGAGGCACGAAGACTTTGG 0.597000 145 11 0 0 1 0 0 SERPINB8 5271 broad.mit.edu 37 18 61645657 61645657 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:61645657C>T uc002ljv.3 + 1 284 c.115C>T c.(115-117)Ctg>Ttg p.L39L SERPINB8_uc002ljs.1_Silent_p.L39L|SERPINB8_uc002ljt.3_Silent_p.L39L|SERPINB8_uc002lju.3_Silent_p.L39L|SERPINB8_uc010xex.2_Intron NM_198833 NP_942130 P50452 SPB8_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA. 39 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) CTCCTCTGCCCTGGCCATGGT 0.483000 34 6 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234255054 234255054 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:234255054G>A uc002vuh.2 + 14 1496 c.1108G>A c.(1108-1110)Gaa>Aaa p.E370K SAG_uc010zmq.1_Intron NM_000541 NP_000532 P10523 ARRS_HUMAN Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA. 370 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) TACAGCTAAGGAAAGGTGAGT 0.443000 164 8 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50960190 50960190 + Missense_Mutation SNP G A A rs150734131 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:50960190G>A uc009xog.3 - 3 698 c.664C>T c.(664-666)Cgg>Tgg p.R222W OGDHL_uc001jie.3_Missense_Mutation_p.R195W|OGDHL_uc010qgt.2_Missense_Mutation_p.R138W|OGDHL_uc010qgu.2_5'UTR|OGDHL_uc009xoh.2_5'UTR NM_001143997 NP_001137469 Q9ULD0 OGDHL_HUMAN Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 195 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 TCCAGGCGCCGAATGATCTCC 0.562000 61 7 0 0 1 0 0 MAGEB2 4113 broad.mit.edu 37 X 30237172 30237172 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:30237172G>A uc022buf.1 + 0 475 c.475G>A c.(475-477)Ggc>Agc p.G159S MAGEB2_uc004dbz.3_Missense_Mutation_p.G159S NM_002364 NP_002355 O15479 MAGB2_HUMAN Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA. 159 MAGE. protein binding p.G159C(3) breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 AGCCTCTGAGGGCCTCAGTGT 0.458000 10 3 0 0 1 0 0 FGF2 2247 broad.mit.edu 37 4 123748449 123748449 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:123748449C>T uc003iev.1 + 0 587 c.519C>T c.(517-519)ttC>ttT p.F173F NM_002006 NP_001997 P09038 FGF2_HUMAN Homo sapiens fibroblast growth factor 2 (basic) (FGF2), mRNA. 173 Ras protein signal transduction|activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|release of sequestered calcium ion into cytosol|wound healing extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1) 8 Pentosan Polysulfate(DB00686) GGGGCTTCTTCCTGCGCATCC 0.672000 30 6 0 0 1 0 0 LMBR1L 55716 broad.mit.edu 37 12 49497551 49497551 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:49497551G>A uc001rth.4 - 5 823 c.481C>T c.(481-483)Ctc>Ttc p.L161F LMBR1L_uc001rtg.4_Missense_Mutation_p.L156F|LMBR1L_uc001rti.4_Missense_Mutation_p.L161F|LMBR1L_uc001rtj.1_Missense_Mutation_p.L5F|LMBR1L_uc009zld.1_Missense_Mutation_p.L34F|LMBR1L_uc010smf.1_Non-coding_Transcript NM_018113 NP_060583 Q6UX01 LMBRL_HUMAN Homo sapiens limb region 1 homolog (mouse)-like (LMBR1L), mRNA. 161 endocytosis integral to membrane|plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 AGCAGAGTGAGGAGCATCAAC 0.552000 113 7 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38950129 38950129 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:38950129G>A uc021yzh.1 + 85 12951 c.12842G>A c.(12841-12843)cGa>cAa p.R4281Q DNAH8_uc003ooe.2_Missense_Mutation_p.R4064Q|DNAH8_uc003oog.1_Missense_Mutation_p.R513Q NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AAGGAGCGACGAAAATTTGGC 0.343000 42 7 0 0 1 0 0 ALPPL2 251 broad.mit.edu 37 2 233272346 233272346 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:233272346G>A uc002vss.4 + 3 396 c.343G>A c.(343-345)Gcc>Acc p.A115T NM_031313 NP_112603 P10696 PPBN_HUMAN Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA. 115 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) TGGAGCCACAGCCACGGCCTA 0.577000 30 6 0 0 1 0 0 ITM2C 81618 broad.mit.edu 37 2 231738192 231738192 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:231738192C>T uc002vqz.3 + 1 301 c.181C>T c.(181-183)Ctg>Ttg p.L61L ITM2C_uc002vra.3_Intron|ITM2C_uc002vrb.3_Silent_p.L61L|ITM2C_uc002vrc.3_5'Flank|ITM2C_uc002vrd.3_5'Flank NM_030926 NP_112188 Q9NQX7 ITM2C_HUMAN Homo sapiens integral membrane protein 2C (ITM2C), transcript variant 1, mRNA. 61 negative regulation of neuron projection development|neuron differentiation Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm beta-amyloid binding cervix(2)|lung(1)|ovary(1)|skin(1) 5 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) CGTGTGCTACCTGTCGATGGG 0.632000 44 12 0 0 1 0 0 SRF 6722 broad.mit.edu 37 6 43144299 43144299 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:43144299C>T uc003oui.3 + 3 1531 c.1056C>T c.(1054-1056)gcC>gcT p.A352A SRF_uc011dvf.2_Silent_p.A148A NM_003131 NP_003122 P11831 SRF_HUMAN Homo sapiens serum response factor (c-fos serum response element-binding transcription factor) (SRF), mRNA. 352 angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation endoplasmic reticulum protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 12 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GGGCAGTGGCCCAGCAGGTCC 0.617000 70 8 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222794578 222794578 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:222794578C>T uc001hnl.3 + 1 220 c.211C>T c.(211-213)Cct>Tct p.P71S NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA. 71 SH3. exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) AAAAGGTGATCCTGTATATGT 0.363000 292 19 0 0 1 0 0 ANTXR2 118429 broad.mit.edu 37 4 80899225 80899225 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:80899225G>A uc003hlz.4 - 14 2046 c.1283C>T c.(1282-1284)cCt>cTt p.P428L ANTXR2_uc003hly.4_Missense_Mutation_p.P428L|ANTXR2_uc003hlx.1_Non-coding_Transcript|ANTXR2_uc010ijn.3_Missense_Mutation_p.P325L NM_001145794 NP_001139266 P58335 ANTR2_HUMAN Homo sapiens anthrax toxin receptor 2 (ANTXR2), transcript variant 2, mRNA. 428 endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 AGGTGGTCTAGGCCTGATGGG 0.463000 Juvenile Hyaline Fibromatosis 63 7 0 0 1 0 0 WNT2 7472 broad.mit.edu 37 7 116955218 116955218 + Silent SNP G A A rs142048882 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:116955218G>A uc003viz.3 - 2 795 c.495C>T c.(493-495)atC>atT p.I165I WNT2_uc003vja.3_Silent_p.I69I NM_003391 NP_003382 P09544 WNT2_HUMAN Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA. 165 Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) GGGCAAATTTGATCCCATAGT 0.468000 63 6 0 0 1 0 0 DPYSL3 1809 broad.mit.edu 37 5 146775141 146775141 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:146775141C>T uc003loo.3 - 12 2145 c.1947G>A c.(1945-1947)caG>caA p.Q649Q DPYSL3_uc003lon.1_Silent_p.Q535Q NM_001197294 NP_001184223 Q14195 DPYL3_HUMAN Homo sapiens dihydropyrimidinase-like 3 (DPYSL3), transcript variant 1, mRNA. 535 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAAATCCCGACTGATGAAGAT 0.572000 6 4 0 0 1 0 0 SLC7A3 84889 broad.mit.edu 37 X 70145775 70145775 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:70145775C>T uc004dyn.3 - 11 1922 c.1748G>A c.(1747-1749)gGc>gAc p.G583D SLC7A3_uc004dyo.3_Missense_Mutation_p.G583D NM_032803 NP_116192 Q8WY07 CTR3_HUMAN Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA. 583 cellular nitrogen compound metabolic process integral to membrane|plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GATCCCATAGCCGAAGTAGAT 0.507000 33 10 0 0 1 0 0 USP3 9960 broad.mit.edu 37 15 63850313 63850313 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:63850313C>T uc002amf.3 + 5 588 c.459C>T c.(457-459)acC>acT p.T153T USP3_uc010uii.1_Intron|USP3_uc002amg.3_Silent_p.T68T|USP3_uc002amh.3_Silent_p.T131T|USP3_uc010uij.2_Silent_p.T109T|USP3_uc010uik.2_Intron|USP3_uc010bgs.3_Silent_p.T136T|USP3_uc002ami.3_5'UTR NM_006537 NP_006528 Q9Y6I4 UBP3_HUMAN Homo sapiens ubiquitin specific peptidase 3 (USP3), mRNA. 153 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(3)|large_intestine(7)|lung(4) 14 GBM - Glioblastoma multiforme(80;0.0187) AGGGAAGCACCACTGCCATTT 0.478000 43 27 0 0 1 0 0 ERICH1 157697 broad.mit.edu 37 8 665953 665953 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:665953C>T uc003wph.3 - 1 142 c.77G>A c.(76-78)gGa>gAa p.G26E NM_207332 NP_997215 Q86X53 ERIC1_HUMAN Homo sapiens glutamate-rich 1 (ERICH1), mRNA. 26 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) TTCCCTCTTTCCTTGGCCACT 0.468000 85 14 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43924811 43924811 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:43924811G>A uc003bdy.2 - 31 4742 c.4428C>T c.(4426-4428)ttC>ttT p.F1476F EFCAB6_uc003bdz.2_Silent_p.F1324F|EFCAB6_uc010gzi.2_Silent_p.F1324F NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 1476 EF-hand 17.|Interaction with AR.|Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) CCAGAATATGGAAGAACTCTT 0.507000 129 5 0 0 1 0 0 CES1 1066 broad.mit.edu 37 16 55853500 55853500 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:55853500G>A uc002eim.3 - 6 958 c.850C>T c.(850-852)Cac>Tac p.H284Y CES1_uc002eil.3_Missense_Mutation_p.H285Y|CES1_uc002ein.3_Missense_Mutation_p.H284Y NM_001025194 NP_001020365 P23141 EST1_HUMAN Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA. 284 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) CGCAGGCAGTGAACCATGACA 0.517000 59 5 0 0 1 0 0 PHF16 9767 broad.mit.edu 37 X 46857534 46857534 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:46857534G>A uc004dgx.3 + 3 190 c.139G>A c.(139-141)Gac>Aac p.D47N PHF16_uc004dgy.3_Missense_Mutation_p.D47N NM_001077445 NP_055550 Q92613 JADE3_HUMAN Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA. 47 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 ATTCCGGAAGGACCTCATCAG 0.408000 33 13 0 0 1 0 0 OR52B4 143496 broad.mit.edu 37 11 4388715 4388715 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:4388715G>A uc010qye.2 - 0 902 c.811C>T c.(811-813)Cca>Tca p.P271S NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA. 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) ATACAAGGTGGAATGTGGCGT 0.463000 8 3 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35876356 35876356 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:35876356C>T uc003jjs.3 + 7 1237 c.1148C>T c.(1147-1149)tCc>tTc p.S383F IL7R_uc011cop.2_Non-coding_Transcript NM_002185 NP_002176 P16871 IL7RA_HUMAN Homo sapiens interleukin 7 receptor (IL7R), mRNA. 383 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CCTATTCTCTCCTCTTCCAGG 0.542000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 12 4 0 0 1 0 0 SMC1A 8243 broad.mit.edu 37 X 53421715 53421715 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:53421715G>A uc004dsg.3 - 18 3025 c.2956C>T c.(2956-2958)Ctg>Ttg p.L986L SMC1A_uc011moe.2_Silent_p.L964L NM_006306 NP_006297 Q14683 SMC1A_HUMAN Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA. 986 DNA repair|cell cycle checkpoint|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2) 49 TCCTCACACAGATCACCGTAG 0.547000 29 9 0 0 1 0 0 NIPAL3 57185 broad.mit.edu 37 1 24782684 24782684 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:24782684C>T uc001bjh.3 + 7 1101 c.694C>T c.(694-696)Caa>Taa p.Q232* NIPAL3_uc009vrc.3_Nonsense_Mutation_p.Q150*|NIPAL3_uc001bji.3_Nonsense_Mutation_p.Q7* NM_020448 NP_065181 Q6P499 NPAL3_HUMAN Homo sapiens NIPA-like domain containing 3 (NIPAL3), mRNA. 232 integral to membrane endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1) 14 CTTGTCCATTCAAGGGAACCT 0.547000 323 10 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57428537 57428537 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:57428537G>A uc002xzw.3 + 0 502 c.217G>A c.(217-219)Gtc>Atc p.V73I GNAS-AS1_uc002xzs.2_5'Flank|GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript NM_080425 NP_001070958 P63092 GNAS2_HUMAN Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA. 0 G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.G73V(1) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) ACCCCCAGAGGTCTCCAGACC 0.627000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 17 3 0 0 1 0 0 SERPINA1 5265 broad.mit.edu 37 14 94847252 94847252 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:94847252G>A uc001ycy.4 - 4 1427 c.873C>T c.(871-873)ctC>ctT p.L291L SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Silent_p.L291L|SERPINA1_uc010auy.3_Silent_p.L291L|SERPINA1_uc001ycz.4_Silent_p.L291L|SERPINA1_uc010auz.3_Silent_p.L291L|SERPINA1_uc010ava.3_Silent_p.L291L|SERPINA1_uc001ydb.4_Silent_p.L291L|SERPINA1_uc010avb.3_Silent_p.L291L|SERPINA1_uc001ydc.4_Silent_p.L291L|SERPINA1_uc010auw.3_Silent_p.L291L|SERPINA1_uc010aux.3_Silent_p.L291L|SERPINA1_uc001yda.1_Silent_p.L291L NM_001002236 NP_001121179 P01009 A1AT_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA. 291 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) TATCGTGGGTGAGTTCATTTT 0.517000 95 7 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62370894 62370894 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:62370894G>A uc003xuh.3 + 4 1094 c.770G>A c.(769-771)aGc>aAc p.S257N CLVS1_uc003xui.3_Non-coding_Transcript NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN Homo sapiens clavesin 1 (CLVS1), mRNA. 257 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 AATTTAAACAGCCTTCACCAG 0.398000 56 6 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40408554 40408554 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:40408554G>A uc002omp.4 - 7 4293 c.4285C>T c.(4285-4287)Ctg>Ttg p.L1429L NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 1429 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GTGGGCGGCAGGCAGGGAGAG 0.627000 66 5 0 0 1 0 0 CCDC86 79080 broad.mit.edu 37 11 60609702 60609702 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:60609702C>T uc001nqa.2 + 0 274 c.105C>T c.(103-105)ttC>ttT p.F35F NM_024098 NP_077003 Q9H6F5 CCD86_HUMAN Homo sapiens coiled-coil domain containing 86 (CCDC86), mRNA. 35 interspecies interaction between organisms nucleus endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3) 10 TTGTGGAGTTCGAGTCGAACC 0.657000 31 9 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100675124 100675124 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:100675124G>A uc003uxp.1 + 2 480 c.427G>A c.(427-429)Gaa>Aaa p.E143K MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 143 Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACAACTCCTGAAGGCACCGA 0.473000 83 10 0 0 1 0 0 TUBB7P 56604 broad.mit.edu 37 4 190904372 190904372 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:190904372T>G uc011clg.2 - 3 613 c.395A>C c.(394-396)aAc>aCc p.N132T Q99867 TBB4Q_HUMAN Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system. 204 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity TAGCGCTTCGTTATCTATGCA 0.537000 87 17 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131641443 131641443 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:131641443C>T uc021qav.1 - 11 1184 c.1083G>A c.(1081-1083)gcG>gcA p.A361A EBF3_uc001lki.2_Silent_p.A375A NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN Homo sapiens early B-cell factor 3 (EBF3), mRNA. 384 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) CCACCAGGTCCGCCGCCCGCT 0.602000 16 4 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40972595 40972595 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:40972595C>T uc003jmh.3 + 14 2087 c.1973C>T c.(1972-1974)tCc>tTc p.S658F C7_uc011cpn.1_Non-coding_Transcript NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 658 Sushi 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GTGACTGTTTCCTGTTCAGGT 0.458000 32 9 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18504889 18504889 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:18504889G>A uc003zne.4 + 1 278 c.126G>A c.(124-126)tgG>tgA p.W42* ADAMTSL1_uc003znb.3_Nonsense_Mutation_p.W42*|ADAMTSL1_uc003znc.4_Nonsense_Mutation_p.W42* NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA. 42 TSP type-1 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GGGGCCCATGGAGTGAATGCT 0.607000 68 6 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109698506 109698506 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:109698506G>A uc004eor.2 + 3 4370 c.4124G>A c.(4123-4125)gGa>gAa p.G1375E NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA. 1375 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 GATCACCTTGGACAGAGCACA 0.488000 42 15 0 0 1 0 0 WHSC1 7468 broad.mit.edu 37 4 1961227 1961227 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:1961227C>T uc003gdz.4 + 16 3191 c.3015C>T c.(3013-3015)atC>atT p.I1005I WHSC1_uc003geb.4_Silent_p.I1005I|WHSC1_uc003gec.4_Silent_p.I1005I|WHSC1_uc003ged.4_Silent_p.I1005I|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gei.4_Silent_p.I224I|WHSC1_uc011bvh.2_Silent_p.I66I|WHSC1_uc010icf.3_Silent_p.I353I NM_001042424 NP_579890 O96028 NSD2_HUMAN Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA. 1005 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) AAGTCCAGATCTACACAGCGG 0.493000 T IGH@ MM 32 7 0 0 1 0 0 TECTB 6975 broad.mit.edu 37 10 114061864 114061864 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:114061864G>A uc001kzr.1 + 8 913 c.913G>A c.(913-915)Gga>Aga p.G305R NM_058222 NP_478129 Q96PL2 TECTB_HUMAN Homo sapiens tectorin beta (TECTB), mRNA. 305 anchored to membrane|plasma membrane|proteinaceous extracellular matrix p.R304W(1) kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.198) Epithelial(162;0.0143)|all cancers(201;0.0242) TACAGGCAGGGGATTTTCCAG 0.423000 63 5 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116434436 116434436 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:116434436G>A uc001tvw.3 - 15 2896 c.2841C>T c.(2839-2841)tcC>tcT p.S947S NM_015335 NP_056150 Q71F56 MD13L_HUMAN Homo sapiens mediator complex subunit 13-like (MED13L), mRNA. 947 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) CAAACATGGAGGATCCCACAA 0.448000 22 9 0 0 1 0 0 C17orf47 284083 broad.mit.edu 37 17 56620080 56620080 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:56620080C>T uc002iwq.2 - 0 1654 c.1468G>A c.(1468-1470)Gag>Aag p.E490K SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA. 490 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTTGGAAACTCCTTTGGTGGT 0.473000 272 11 0 0 1 0 0 SLC24A4 123041 broad.mit.edu 37 14 92959855 92959855 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:92959855C>A uc001yak.3 + 16 1775 c.1752C>A c.(1750-1752)gaC>gaA p.D584E SLC24A4_uc001yai.3_Missense_Mutation_p.D520E|SLC24A4_uc010twm.2_Missense_Mutation_p.D565E|SLC24A4_uc010auj.3_3'UTR|SLC24A4_uc010twn.2_Missense_Mutation_p.D340E|SLC24A4_uc001yan.3_Missense_Mutation_p.D278E NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA. 584 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity p.C583S(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) GGCGACTGGACCGGAAGCTGG 0.507000 35 5 1 1 1 1 0 HEXDC 284004 broad.mit.edu 37 17 80395114 80395114 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:80395114C>T uc002kev.4 + 7 1190 c.774C>T c.(772-774)gcC>gcT p.A258A HEXDC_uc002kew.3_Silent_p.A258A|HEXDC_uc010wvm.2_Non-coding_Transcript|HEXDC_uc010wvn.1_Silent_p.A21A NM_173620 NP_775891 Q8WVB3 HEXDC_HUMAN Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA. 258 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) TCAAGGGTGCCACGGGGCCCA 0.667000 142 9 0 0 1 0 0 ACSM5 54988 broad.mit.edu 37 16 20442358 20442358 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:20442358G>A uc002dhe.3 + 8 1316 c.1169G>A c.(1168-1170)gGa>gAa p.G390E NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA. 390 fatty acid metabolic process mitochondrial matrix ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 ATCAAGTCTGGATCCATGGGG 0.537000 134 11 0 0 1 0 0 DDX43 55510 broad.mit.edu 37 6 74104738 74104738 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:74104738G>A uc003pgw.3 + 0 454 c.110G>A c.(109-111)cGa>cAa p.R37Q OOEP_uc003pgv.4_5'UTR|DDX43_uc011dyn.1_Non-coding_Transcript NM_018665 NP_061135 Q9NXZ2 DDX43_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA. 37 intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 GAGTTGAATCGAACAGGTCCT 0.657000 100 8 0 0 1 0 0 BC043541 0 broad.mit.edu 37 1 43352459 43352459 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:43352459C>T uc001cij.1 + 3 c.361C>T Homo sapiens cDNA clone IMAGE:5170739. TGAGGTAGATCACAGCCAGCA 0.587000 12 7 0 0 1 0 0 MCM4 4173 broad.mit.edu 37 8 48874166 48874166 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:48874166C>T uc003xqk.2 + 2 987 c.161C>T c.(160-162)tCg>tTg p.S54L PRKDC_uc003xqi.3_5'Flank|PRKDC_uc003xqj.3_5'Flank|MCM4_uc003xql.2_Missense_Mutation_p.S54L|MCM4_uc011ldi.2_Missense_Mutation_p.S54L|MCM4_uc010lxw.2_Intron NM_182746 NP_877423 P33991 MCM4_HUMAN Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA. 54 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) ATGCCAACCTCGCCTGGAGTG 0.587000 54 9 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106610487 106610487 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:106610487C>T uc021ser.1 - 1671 c.32084G>A Parts of antibodies, mostly variable regions. CCAGCCCCTTCCCTGGAGCCT 0.557000 44 18 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11008508 11008508 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:11008508G>A uc010oao.2 - 11 1684 c.1684C>T c.(1684-1686)Ctg>Ttg p.L562L C1orf127_uc001ars.2_Silent_p.L397L|C1orf127_uc001arr.2_Silent_p.L405L NM_001170754 NP_001164225 B7ZLG7 B7ZLG7_HUMAN Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA. 413 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CCTCTCAGCAGGAGGGGACTT 0.607000 48 8 0 0 1 0 0 TUBB1 81027 broad.mit.edu 37 20 57598953 57598953 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:57598953G>A uc002yak.3 + 3 740 c.471G>A c.(469-471)gaG>gaA p.E157E NM_030773 NP_110400 Q9H4B7 TBB1_HUMAN Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA. 157 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2) 16 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) AGATTAGAGAGGAGTACCCGG 0.592000 97 8 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798437 55798437 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:55798437C>T uc010riw.2 + 0 543 c.543C>T c.(541-543)atC>atT p.I181I NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA. 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) TCTGTGATATCCCACCTCTTC 0.428000 76 15 0 0 1 0 0 LPIN1 23175 broad.mit.edu 37 2 11911634 11911634 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:11911634C>T uc010yjm.2 + 4 625 c.572C>T c.(571-573)cCc>cTc p.P191L LPIN1_uc010yjn.2_Missense_Mutation_p.P142L|LPIN1_uc002rbt.3_Missense_Mutation_p.P142L|LPIN1_uc002rbs.3_Missense_Mutation_p.P142L NM_145693 NP_663731 Q14693 LPIN1_HUMAN Homo sapiens lipin 1 (LPIN1), mRNA. 142 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity p.P142L(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) GTGATCGCTCCCAGCGAGACG 0.537000 44 7 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40070073 40070073 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:40070073G>A uc002hyg.3 - 1 217 c.54C>T c.(52-54)ttC>ttT p.F18F ACLY_uc002hyh.3_Silent_p.F18F|ACLY_uc002hyi.3_Silent_p.F72F|ACLY_uc010wfx.2_Silent_p.F72F|ACLY_uc010wfy.2_Silent_p.F18F NM_001096 NP_001087 P53396 ACLY_HUMAN Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA. 18 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity p.F18F(2) NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) TGGTACAGATGAACTTGTAAA 0.562000 160 8 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26706682 26706682 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:26706682G>A uc003acb.3 + 6 1757 c.1561G>A c.(1561-1563)Gac>Aac p.D521N SEZ6L_uc003acd.3_Missense_Mutation_p.D521N|SEZ6L_uc011akd.2_Missense_Mutation_p.D521N|SEZ6L_uc003ace.3_Missense_Mutation_p.D521N|SEZ6L_uc011akc.2_Missense_Mutation_p.D521N|SEZ6L_uc003acc.3_Missense_Mutation_p.D521N|SEZ6L_uc003acf.1_Missense_Mutation_p.D294N|SEZ6L_uc010gvc.1_Missense_Mutation_p.D294N NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 521 CUB 2. endoplasmic reticulum membrane|integral to membrane p.Y520*(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 TCTTCTCTACGACTCCCTTCA 0.602000 85 7 0 0 1 0 0 EYA3 2140 broad.mit.edu 37 1 28339627 28339627 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:28339627G>A uc001bpi.2 - 8 946 c.764C>T c.(763-765)tCc>tTc p.S255F EYA3_uc010ofs.2_Missense_Mutation_p.S202F|EYA3_uc010oft.2_Missense_Mutation_p.S209F|EYA3_uc001bpj.3_Missense_Mutation_p.S209F|EYA3_uc001bpk.2_Non-coding_Transcript|EYA3_uc010ofu.2_Non-coding_Transcript NM_001990 NP_001981 Q99504 EYA3_HUMAN Homo sapiens eyes absent homolog 3 (Drosophila) (EYA3), mRNA. 255 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) CTTACCAGAGGAAAGTCTCTG 0.473000 56 8 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125877477 125877477 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:125877477C>T uc003eim.1 - 2 323 c.133G>A c.(133-135)Gaa>Aaa p.E45K ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.E45K|ALDH1L1_uc003eio.3_5'Flank|ALDH1L1_uc010hsf.1_Missense_Mutation_p.E71K|ALDH1L1_uc003eip.1_5'UTR|ALDH1L1_uc011bkj.1_Intron NM_012190 NP_036322 O75891 AL1L1_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA. 45 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) TTCTCAGCTTCCAGACCTGTG 0.572000 43 11 0 0 1 0 0 MMAA 166785 broad.mit.edu 37 4 146576365 146576365 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:146576365C>T uc003ikh.4 + 6 1121 c.1036C>T c.(1036-1038)Cag>Tag p.Q346* MMAA_uc010iow.3_Non-coding_Transcript NM_172250 NP_758454 Q8IVH4 MMAA_HUMAN Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA. 346 mitochondrion GTP binding|nucleoside-triphosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1) 17 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAAAGATTTCCAGGACCTAAT 0.438000 54 6 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151356784 151356784 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:151356784G>A uc010ipj.3 - 46 7275 c.7031C>T c.(7030-7032)tCc>tTc p.S2344F LRBA_uc010ipi.3_Intron|LRBA_uc003ils.4_Missense_Mutation_p.S234F|LRBA_uc003ilt.4_Missense_Mutation_p.S992F|LRBA_uc003ilu.4_Missense_Mutation_p.S2333F NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 2344 BEACH. Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CCAAGCTCTGGAAATTGATGA 0.333000 38 4 0 0 1 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6107505 6107505 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:6107505C>T uc010idb.1 - 2 805 c.319G>A c.(319-321)Gag>Aag p.E107K JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.E107K|JAKMIP1_uc003giu.4_Missense_Mutation_p.E107K|JAKMIP1_uc011bwc.2_Intron|JAKMIP1_uc003giv.4_Missense_Mutation_p.E107K|JAKMIP1_uc010ide.3_Missense_Mutation_p.E107K NM_001099433 NP_001092903 Q96N16 JKIP1_HUMAN Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA. 107 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGCTCGCCCTCCTTGATCTTG 0.711000 27 5 0 0 1 0 0 ZNF221 7638 broad.mit.edu 37 19 44470696 44470696 + Missense_Mutation SNP C T T rs150319141 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:44470696C>T uc002oxx.2 + 5 1370 c.1042C>T c.(1042-1044)Cgt>Tgt p.R348C ZNF221_uc010ejb.1_Missense_Mutation_p.R348C|ZNF221_uc010xws.1_Missense_Mutation_p.R348C NM_013359 NP_037491 Q9UK13 ZN221_HUMAN Homo sapiens zinc finger protein 221 (ZNF221), mRNA. 348 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) CAAGAACTTTCGTCAGAGATC 0.408000 66 12 0 0 1 0 0 FOSB 2354 broad.mit.edu 37 19 45974140 45974140 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:45974140G>A uc002pbx.4 + 1 972 c.380G>A c.(379-381)gGa>gAa p.G127E ERCC1_uc002pbu.2_Intron|FOSB_uc002pbw.3_Missense_Mutation_p.G127E|FOSB_uc010eka.1_Missense_Mutation_p.G88E|FOSB_uc010ekb.1_Missense_Mutation_p.G127E|FOSB_uc010ekc.1_Intron|FOSB_uc010ekd.1_Missense_Mutation_p.G127E|FOSB_uc010eke.3_Missense_Mutation_p.G88E|FOSB_uc002pby.4_Missense_Mutation_p.G127E|FOSB_uc010ekf.3_Missense_Mutation_p.G88E|FOSB_uc010ekg.3_Intron|FOSB_uc002pca.4_Missense_Mutation_p.G78E NM_006732 NP_006723 P53539 FOSB_HUMAN Homo sapiens FBJ murine osteosarcoma viral oncogene homolog B (FOSB), transcript variant 1, mRNA. 127 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 13 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) TCCACCAGCGGAACTACCAGT 0.657000 80 5 0 0 1 0 0 TTC38 55020 broad.mit.edu 37 22 46671288 46671288 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:46671288C>T uc003bhi.3 + 4 585 c.509C>T c.(508-510)cCc>cTc p.P170L TTC38_uc011aqx.2_Intron NM_017931 NP_060401 Q5R3I4 TTC38_HUMAN Homo sapiens tetratricopeptide repeat domain 38 (TTC38), mRNA. 170 binding endometrium(4)|large_intestine(3)|lung(4)|ovary(1) 12 CGAATTTACCCCTTCTGGACA 0.438000 103 4 0 0 1 0 0 SAFB2 9667 broad.mit.edu 37 19 5610062 5610062 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:5610062G>A uc002mcd.3 - 8 1452 c.1240C>T c.(1240-1242)Ctg>Ttg p.L414L NM_014649 NP_055464 Q14151 SAFB2_HUMAN Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA. 414 RRM. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|RNA binding|nucleotide binding|protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) GTGGAGGACAGCCCGCTGACC 0.557000 22 4 0 0 1 0 0 DNAJB8 165721 broad.mit.edu 37 3 128181674 128181674 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:128181674C>T uc003ekk.1 - 2 2076 c.415G>A c.(415-417)Gga>Aga p.G139R DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.G139R NM_153330 NP_699161 Q8NHS0 DNJB8_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA. 139 protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) GGAAATTCTCCAAAGCCTGCC 0.617000 26 9 0 0 1 0 0 EMID1 129080 broad.mit.edu 37 22 29621147 29621147 + Missense_Mutation SNP G C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:29621147G>C uc003aem.3 + 3 420 c.345G>C c.(343-345)gaG>gaC p.E115D EMID1_uc003aen.3_Missense_Mutation_p.E113D NM_133455 NP_597712 Q96A84 EMID1_HUMAN Homo sapiens EMI domain containing 1 (EMID1), mRNA. 113 collagen NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3) 12 CCTCCTTGGAGCCCATGTGGT 0.642000 92 7 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103491485 103491485 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:103491485C>T uc001dum.3 - 5 1122 c.804G>A c.(802-804)aaG>aaA p.K268K COL11A1_uc001duk.3_Intron|COL11A1_uc001dul.3_Intron|COL11A1_uc001dun.3_Intron|COL11A1_uc009weh.3_Intron NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 268 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCCTCATCTTCTTTTTGAAAT 0.333000 67 8 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209801435 209801435 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:209801435G>A uc001hhg.3 - 9 1623 c.1233C>T c.(1231-1233)gaC>gaT p.D411D LAMB3_uc009xco.3_Silent_p.D411D|LAMB3_uc001hhh.3_Silent_p.D411D|LAMB3_uc010psl.1_Non-coding_Transcript NM_001017402 NP_001121113 Q13751 LAMB3_HUMAN Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA. 411 Laminin EGF-like 3. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GCTTGCATAGGTCACAGCGCT 0.657000 OREG0014217 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 3 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77661444 77661444 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:77661444G>A uc011cbx.2 + 4 3071 c.2118G>A c.(2116-2118)agG>agA p.R706R SHROOM3_uc011cbz.1_Silent_p.R530R|SHROOM3_uc003hkf.1_Silent_p.R581R|SHROOM3_uc003hkg.3_Silent_p.R484R NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 706 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) ACCCTGGGAGGAAAGCCGCTC 0.662000 129 6 0 0 1 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6374389 6374389 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:6374389C>T uc003gja.3 - 4 510 c.486G>A c.(484-486)gtG>gtA p.V162V PPP2R2C_uc003gjb.3_Silent_p.V145V|PPP2R2C_uc003gjc.3_Silent_p.V162V|PPP2R2C_uc011bwd.2_Silent_p.V155V|PPP2R2C_uc011bwe.2_Silent_p.V155V|PPP2R2C_uc003gjd.1_Silent_p.V250V NM_181876 NP_870991 Q9Y2T4 2ABG_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA. 162 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 TCCGAGGGCTCACCTCCACCA 0.577000 79 15 0 0 1 0 0 PI3 5266 broad.mit.edu 37 20 43804673 43804674 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:43804673_43804674CC>TT uc002xng.3 + 1 275_276 c.251_252CC>TT c.(250-252)gcc>gTT p.A84V NM_002638 NP_002629 P19957 ELAF_HUMAN Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA. 84 WAP. copulation proteinaceous extracellular matrix serine-type endopeptidase inhibitor activity p.C83C(1) large_intestine(1)|lung(5)|skin(1) 7 Myeloproliferative disorder(115;0.0122) ATCCGGTGCGCCATGTTGAATC 0.515000 44 9 0 0 1 0 0 TSPAN15 23555 broad.mit.edu 37 10 71265942 71265942 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:71265942C>T uc001jpo.1 + 6 806 c.681C>T c.(679-681)ttC>ttT p.F227F NM_012339 NP_036471 O95858 TSN15_HUMAN Homo sapiens tetraspanin 15 (TSPAN15), mRNA. 227 integral to plasma membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 9 TCATCTGGTTCATGGACAACT 0.592000 56 5 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74560742 74560742 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:74560742C>T uc002axo.3 + 4 883 c.489C>T c.(487-489)gtC>gtT p.V163V CCDC33_uc002axp.3_5'UTR NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA. 366 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 ACGCAACAGTCGTTCGGAAGA 0.607000 39 5 0 0 1 0 0 NDRG1 10397 broad.mit.edu 37 8 134258871 134258871 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:134258871G>A uc003yuh.2 - 12 1429 c.843C>T c.(841-843)acC>acT p.T281T NDRG1_uc003yue.1_5'Flank|NDRG1_uc003yuf.1_Silent_p.T92T|NDRG1_uc003yug.2_Silent_p.T281T|NDRG1_uc010mee.2_Silent_p.T200T|NDRG1_uc010mef.2_Silent_p.T215T|NDRG1_uc011ljh.1_Silent_p.T109T|NDRG1_uc011lji.1_Silent_p.T28T NM_001135242 NP_006087 Q92597 NDRG1_HUMAN Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA. 281 cellular response to hypoxia|response to metal ion cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane protein binding NDRG1/ERG(5) endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1) 17 all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) TGAGGAGAGTGGTCTTTGTTG 0.438000 T ERG prostate 131 25 0 0 1 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100594173 100594173 + Missense_Mutation SNP G A A rs149692828 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:100594173G>A uc002bvv.1 - 15 2303 c.2224C>T c.(2224-2226)Cgc>Tgc p.R742C NM_139057 NP_620688 Q8TE56 ATS17_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA. 742 Spacer. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CTCACATAGCGAACAGTTGTG 0.517000 173 13 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39229360 39229360 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:39229360C>T uc003cjk.2 - 1 1806 c.1577G>A c.(1576-1578)cGa>cAa p.R526Q XIRP1_uc003cji.3_Missense_Mutation_p.R526Q|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.R526Q NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 526 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) ACTGGGGCTTCGGCCGAGCTG 0.617000 88 6 0 0 1 0 0 SIRT4 23409 broad.mit.edu 37 12 120750397 120750397 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:120750397C>T uc001tyc.3 + 2 695 c.636C>T c.(634-636)gtC>gtT p.V212V NM_012240 NP_036372 Q9Y6E7 SIRT4_HUMAN Homo sapiens sirtuin 4 (SIRT4), mRNA. 212 Deacetylase sirtuin-type. chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation mitochondrial matrix NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGGAGCAAGTCCGGAGCTTTC 0.552000 34 6 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19496170 19496170 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:19496170G>A uc002wrl.3 + 2 507 c.310G>A c.(310-312)Gat>Aat p.D104N NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA. 104 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CACAAACGAGGATAGAAGACA 0.527000 91 4 0 0 1 0 0 DAPK3 1613 broad.mit.edu 37 19 3964923 3964923 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:3964923G>A uc002lzc.1 - 1 223 c.129C>T c.(127-129)ttC>ttT p.F43F DAPK3_uc002lzd.1_Silent_p.F43F NM_001348 NP_001339 O43293 DAPK3_HUMAN Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA. 43 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade PML body|cytoplasm ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GCTTCTTGATGAACTTGGCTG 0.657000 94 13 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224777 248224777 + Missense_Mutation SNP G A A rs148776094 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:248224777G>A uc001idx.1 + 0 794 c.794G>A c.(793-795)cGa>cAa p.R265Q OR2L13_uc001ids.3_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA. 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R265Q(2) cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) AGATCCCTGCGATCTCCAACA 0.507000 41 4 0 0 1 0 0 CTRB2 440387 broad.mit.edu 37 16 75238128 75238128 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:75238128G>A uc002fdr.3 - 6 756 c.723C>T c.(721-723)acC>acT p.T241T NM_001025200 NP_001020371 Q6GPI1 CTRB2_HUMAN Homo sapiens chymotrypsinogen B2 (CTRB2), mRNA. 241 Peptidase S1. digestion|proteolysis extracellular space serine-type endopeptidase activity p.T240N(2) endometrium(1)|large_intestine(1)|lung(2) 4 CAGCGGGCGTGGTGGTAGAGC 0.662000 68 10 0 0 1 0 0 GGT7 2686 broad.mit.edu 37 20 33437843 33437843 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:33437843G>A uc002xay.3 - 13 1789 c.1746C>T c.(1744-1746)acC>acT p.T582T GGT7_uc010gex.3_Non-coding_Transcript|GGT7_uc002xaz.1_Silent_p.T599T NM_178026 NP_821158 Q9UJ14 GGT7_HUMAN Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA. 582 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 TCCGGTTCAAGGTCAGGACAT 0.597000 46 10 0 0 1 0 0 USP2 9099 broad.mit.edu 37 11 119243747 119243747 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:119243747C>T uc001pwm.4 - 1 739 c.444G>A c.(442-444)cgG>cgA p.R148R USP2_uc001pwn.4_Intron NM_004205 NP_004196 O75604 UBP2_HUMAN Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA. 148 Necessary for interaction with MDM4. cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity p.R148L(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) TGGAGAAATCCCGGGCCAGGT 0.622000 102 6 0 0 1 0 0 TULP2 7288 broad.mit.edu 37 19 49398412 49398412 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:49398412C>T uc002pkz.2 - 5 508 c.357G>A c.(355-357)agG>agA p.R119R NM_003323 NP_003314 O00295 TULP2_HUMAN Homo sapiens tubby like protein 2 (TULP2), mRNA. 119 visual perception cytoplasm|extracellular region NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) GACCGAGATTCCTGAACACTG 0.557000 71 7 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73492407 73492408 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:73492407_73492408CC>TT uc010wsa.2 + 22 3320_3321 c.3128_3129CC>TT c.(3127-3129)acc>aTT p.T1043I KIAA0195_uc002jnz.4_Missense_Mutation_p.T1033I|KIAA0195_uc010wsb.2_Missense_Mutation_p.T673I|KIAA0195_uc002job.4_Missense_Mutation_p.T41I NM_014738 NP_055553 Q12767 K0195_HUMAN Homo sapiens KIAA0195 (KIAA0195), mRNA. 1033 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism p.T1033I(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TCCTGGGAGACCTTTGGCTACG 0.624000 42 16 0 0 1 0 0 MTUS1 57509 broad.mit.edu 37 8 17541980 17541980 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:17541980G>A uc003wxv.3 - 6 3169 c.2695C>T c.(2695-2697)Cct>Tct p.P899S MTUS1_uc003wxt.3_Missense_Mutation_p.P146S|MTUS1_uc011kyg.2_Missense_Mutation_p.P44S|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.P845S|MTUS1_uc003wxs.3_Missense_Mutation_p.P65S NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA. 899 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) GTTTTCTCAGGGGGCAGCGCA 0.428000 191 20 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38755509 38755509 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:38755509G>A uc003ciq.3 - 20 3744 c.3744C>T c.(3742-3744)gcC>gcT p.A1248A NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1248 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GGGTTCGAAGGGCTTTGATGG 0.512000 46 8 0 0 1 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6066665 6066665 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:6066665G>A uc010idb.1 - 8 1859 c.1373C>T c.(1372-1374)tCc>tTc p.S458F JAKMIP1_uc010idc.1_Missense_Mutation_p.S273F|JAKMIP1_uc010idd.1_Missense_Mutation_p.S458F|JAKMIP1_uc003giu.4_Missense_Mutation_p.S458F|JAKMIP1_uc011bwc.2_Missense_Mutation_p.S293F|JAKMIP1_uc003giv.4_Missense_Mutation_p.S458F|JAKMIP1_uc010ide.3_Missense_Mutation_p.S458F NM_001099433 NP_001092903 Q96N16 JKIP1_HUMAN Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA. 458 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TGTGTTGTAGGATGTTTCGGA 0.493000 48 5 0 0 1 0 0 OR6K2 81448 broad.mit.edu 37 1 158670049 158670049 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:158670049G>A uc001fsu.1 - 0 394 c.394C>T c.(394-396)Ccc>Tcc p.P132S NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA. 132 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) ATGATAGAGGGATAATGAAGA 0.478000 37 10 0 0 1 0 0 MUM1 84939 broad.mit.edu 37 19 1376566 1376566 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:1376566C>T uc002lrz.2 + 13 2237 c.2127C>T c.(2125-2127)cgC>cgT p.R709R MUM1_uc002lsb.2_Silent_p.R640R|MUM1_uc010xgm.1_3'UTR|MUM1_uc002lsd.2_Non-coding_Transcript NM_032853 NP_116242 Q2TAK8 MUM1_HUMAN Homo sapiens melanoma associated antigen (mutated) 1 (MUM1), transcript variant 1, mRNA. 708 DNA repair|chromatin organization nucleus nucleosome binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAACCGGCGCCGTCGGTGAG 0.537000 70 14 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51919227 51919227 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:51919227C>T uc002pwo.3 - 4 1171 c.949G>A c.(949-951)Gat>Aat p.D317N SIGLEC10_uc002pwp.3_Missense_Mutation_p.D259N|SIGLEC10_uc021uyl.1_Missense_Mutation_p.D234N|SIGLEC10_uc002pwq.3_Missense_Mutation_p.D259N|SIGLEC10_uc010ycz.2_Missense_Mutation_p.D269N|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Missense_Mutation_p.D317N|SIGLEC10_uc010ycy.2_Intron|SIGLEC10_uc010eow.3_Missense_Mutation_p.D129N|LOC100129083_uc021uym.1_Non-coding_Transcript NM_033130 NP_149121 Q96LC7 SIG10_HUMAN Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA. 317 Ig-like C2-type 2. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CGCCCTGAATCCCCAGCCTTC 0.672000 46 9 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92442784 92442784 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:92442784A>G uc001dol.4 + 6 1221 c.803A>G c.(802-804)aAa>aGa p.K268R BRDT_uc010osz.2_Missense_Mutation_p.K272R|BRDT_uc001dok.4_Missense_Mutation_p.K268R|BRDT_uc009wdf.3_Missense_Mutation_p.K195R|BRDT_uc010otb.2_Missense_Mutation_p.K222R|BRDT_uc010ota.2_Missense_Mutation_p.K222R|BRDT_uc001dom.4_Missense_Mutation_p.K268R NM_001242805 NP_001229734 Q58F21 BRDT_HUMAN Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA. 268 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) AAGACTGTTAAAGTAACTGAA 0.343000 37 11 0 0 1 0 0 WISP1 8840 broad.mit.edu 37 8 134233036 134233036 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:134233036G>A uc003yub.3 + 2 668 c.562G>A c.(562-564)Gac>Aac p.D188N WISP1_uc003yuc.3_Intron|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron NM_003882 NP_003873 O95388 WISP1_HUMAN Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA. 188 Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) ATGTGAGGACGACGCCAAGAG 0.682000 43 8 0 0 1 0 0 HAPLN1 1404 broad.mit.edu 37 5 82948454 82948454 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:82948454G>A uc003kim.3 - 1 361 c.290C>T c.(289-291)tCc>tTc p.S97F HAPLN1_uc003kin.3_Missense_Mutation_p.S97F NM_001884 NP_001875 P10915 HPLN1_HUMAN Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA. 97 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) GTATCCCATGGAAACAAAAAC 0.448000 50 8 0 0 1 0 0 CXCR1 3577 broad.mit.edu 37 2 219029427 219029427 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:219029427G>A uc021vwq.1 - 0 508 c.508C>T c.(508-510)Ccc>Tcc p.P170S CXCR1_uc002vhc.3_Missense_Mutation_p.P170S NM_000634 NP_000625 P25024 CXCR1_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA. 170 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 AGGAAGAAGGGCAGGGACAGA 0.522000 22 3 0 0 1 0 0 EXOSC9 5393 broad.mit.edu 37 4 122722619 122722619 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:122722619C>T uc003iea.3 + 0 148 c.40C>T c.(40-42)Cta>Tta p.L14L EXOSC9_uc003idz.3_Silent_p.L14L|EXOSC9_uc003ieb.3_5'Flank NM_005033 NP_005024 Q06265 EXOS9_HUMAN Homo sapiens exosome component 9 (EXOSC9), transcript variant 2, mRNA. 14 ARE binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding p.L14L(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1) 16 ACGCCGCTTCCTACTCCGTGC 0.592000 57 15 0 0 1 0 0 LOC254559 254559 broad.mit.edu 37 15 89911357 89911357 + RNA SNP C G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:89911357C>G uc002bnv.2 + 0 c.28C>G Homo sapiens uncharacterized LOC254559 (LOC254559), non-coding RNA. CGTGCGAgcgcccgccccacc 0.627000 22 4 0 0 1 0 0 PLXNC1 10154 broad.mit.edu 37 12 94642028 94642028 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:94642028C>T uc001tdc.3 + 13 2867 c.2618C>T c.(2617-2619)tCc>tTc p.S873F NM_005761 NP_005752 O60486 PLXC1_HUMAN Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA. 873 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TTCAACATTTCCAAAAAAGAC 0.338000 18 3 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119810202 119810202 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:119810202G>A uc010inb.3 + 0 207 c.11G>A c.(10-12)gGg>gAg p.G4E SYNPO2_uc010ina.3_Missense_Mutation_p.G4E|SYNPO2_uc003icm.4_Missense_Mutation_p.G4E|SYNPO2_uc011cgh.2_Missense_Mutation_p.G4E NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA. 4 Z disc|nucleus 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ATGGGCACAGGGGATTTTATC 0.547000 71 6 0 0 1 0 0 C1QL2 165257 broad.mit.edu 37 2 119915315 119915315 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:119915315G>A uc002tlo.2 - 0 1157 c.531C>T c.(529-531)ttC>ttT p.F177F NM_182528 NP_872334 Q7Z5L3 C1QL2_HUMAN Homo sapiens complement component 1, q subcomponent-like 2 (C1QL2), mRNA. 177 C1q. collagen NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1) 7 CCACGTCATCGAACTTCAGCA 0.577000 HNSCC(49;0.14) 20 8 0 0 1 0 0 ZBED1 9189 broad.mit.edu 37 X 2408527 2408527 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:2408527G>A uc022brx.1 - 0 234 c.234C>T c.(232-234)ttC>ttT p.F78F DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Silent_p.F78F|ZBED1_uc004cqg.2_Silent_p.F78F|ZBED1_uc022brw.1_Silent_p.F78F NM_004729 NP_004720 O96006 ZBED1_HUMAN Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA. 78 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGCTCTTGACGAACTCGCAGA 0.622000 110 8 0 0 1 0 0 CLDN12 9069 broad.mit.edu 37 7 90042439 90042439 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:90042439C>T uc003ukp.3 + 4 1085 c.449C>T c.(448-450)cCa>cTa p.P150L CLDN12_uc003ukq.3_Missense_Mutation_p.P150L|CLDN12_uc010leq.3_Missense_Mutation_p.P150L|CLDN12_uc003uks.3_Missense_Mutation_p.P150L|CLDN12_uc003ukr.3_Missense_Mutation_p.P150L|CLDN12_uc022ahd.1_Missense_Mutation_p.P150L NM_012129 NP_036261 P56749 CLD12_HUMAN Homo sapiens claudin 12 (CLDN12), transcript variant 3, mRNA. 150 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2) 15 AGCCTCTCCCCATCTATCTGG 0.478000 60 5 0 0 1 0 0 GPS2 2874 broad.mit.edu 37 17 7227237 7227237 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:7227237G>A uc002gga.1 - 11 2164 c.2157C>T c.(2155-2157)ttC>ttT p.F719F GPS2_uc002ggb.1_Silent_p.F719F|GPS2_uc002ggc.1_Silent_p.F65F NM_032442 NP_115818 Q13227 GPS2_HUMAN Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA. 0 JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4) 24 Prostate(122;0.157) GCAGCTGATGGAAGCGCAGGT 0.612000 OREG0024134 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 8 0 0 1 0 0 TLR1 7096 broad.mit.edu 37 4 38798235 38798235 + Missense_Mutation SNP G A A rs41305843 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:38798235G>A uc003gtl.3 - 3 2492 c.2218C>T c.(2218-2220)Cct>Tct p.P740S TLR1_uc021xnn.1_Missense_Mutation_p.P740S NM_003263 NP_003254 Q15399 TLR1_HUMAN Homo sapiens toll-like receptor 1 (TLR1), mRNA. 740 TIR. cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 TAACTGCTAGGAATGGAGTAC 0.438000 40 4 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68984762 68984762 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:68984762C>T uc003xxv.1 + 13 1553 c.1526C>T c.(1525-1527)tCt>tTt p.S509F PREX2_uc003xxu.1_Missense_Mutation_p.S509F|PREX2_uc011lez.1_Missense_Mutation_p.S444F NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 509 DEP 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 ACCTACAAATCTGTGGTCATG 0.338000 43 5 0 0 1 0 0 AGAP8 728404 broad.mit.edu 37 10 51225510 51225510 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:51225510G>A uc001jij.3 - 6 1598 c.1472C>T c.(1471-1473)tCc>tTc p.S491F PARG_uc001jih.3_Intron|PARG_uc009xoj.3_Intron|PARG_uc001jif.3_Intron|PARG_uc001jig.3_Intron|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Intron|PARG_uc010qgx.2_Intron|AGAP8_uc009xom.3_Missense_Mutation_p.S406F|AGAP8_uc001jik.3_Missense_Mutation_p.S475F|AGAP8_uc010qgy.2_Missense_Mutation_p.S514F|AGAP8_uc021pqg.1_Missense_Mutation_p.S491F|DQ588224_uc001jil.1_5'Flank NM_001077686 NP_001071154 Q5SRD3 AGAP8_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 (AGAP8), mRNA. 491 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding breast(1)|endometrium(1)|lung(2)|ovary(2) 6 TCGCACACGGGAAAGGCGGGT 0.527000 146 12 0 0 1 0 0 NUP62 23636 broad.mit.edu 37 19 50412655 50412655 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:50412655G>A uc002prb.3 - 1 654 c.410C>T c.(409-411)cCc>cTc p.P137L IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Missense_Mutation_p.P137L|NUP62_uc002pqy.3_Missense_Mutation_p.P137L|NUP62_uc002pra.3_Missense_Mutation_p.P137L|NUP62_uc002pqz.3_Missense_Mutation_p.P137L|NUP62_uc002prc.3_Missense_Mutation_p.P137L|NUP62_uc021uya.1_Missense_Mutation_p.P137L NM_012346 NP_714941 P37198 NUP62_HUMAN Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA. 137 15 X 9 AA approximate repeats.|Thr-rich. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2) 19 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) AAAGCCGGTGGGTGCTGTGCC 0.627000 64 8 0 0 1 0 0 LXN 56925 broad.mit.edu 37 3 158390185 158390185 + Missense_Mutation SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:158390185G>T uc003fch.3 - 0 298 c.83C>A c.(82-84)cCg>cAg p.P28Q GFM1_uc003fcd.3_Intron|GFM1_uc003fce.3_Intron|GFM1_uc003fcg.3_Intron|LXN_uc011bov.1_Missense_Mutation_p.P28Q NM_020169 NP_064554 Q9BS40 LXN_HUMAN Homo sapiens latexin (LXN), mRNA. 28 cytoplasm metalloendopeptidase inhibitor activity|protein binding breast(2)|endometrium(1)|kidney(2) 5 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) CACCCTGTGCGGGGTCCCCTG 0.592000 OREG0015899 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 94 5 1 1 1 1 0 TTN 7273 broad.mit.edu 37 2 179437307 179437307 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:179437307C>T uc021vsy.1 - 274 66073 c.65848G>A c.(65848-65850)Gat>Aat p.D21950N MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D15645N|TTN_uc021vta.1_Missense_Mutation_p.D15578N|TTN_uc021vtb.1_Missense_Mutation_p.D15453N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 22877 Fibronectin type-III 59. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTGGTGTATCGAGAACTCTA 0.418000 16 3 0 0 1 0 0 CCDC86 79080 broad.mit.edu 37 11 60615435 60615435 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:60615435C>T uc001nqa.2 + 1 966 c.797C>T c.(796-798)tCg>tTg p.S266L NM_024098 NP_077003 Q9H6F5 CCD86_HUMAN Homo sapiens coiled-coil domain containing 86 (CCDC86), mRNA. 266 interspecies interaction between organisms nucleus endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3) 10 CTGCGCACATCGTGGCAGCGG 0.622000 106 30 0 0 1 0 0 MS4A4A 51338 broad.mit.edu 37 11 60075592 60075592 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:60075592C>T uc001noz.3 + 6 796 c.661C>T c.(661-663)Ctg>Ttg p.L221L MS4A4A_uc001npa.3_Silent_p.L202L|MS4A4A_uc001npc.3_Silent_p.L168L NM_148975 NP_076926 Q96JQ5 M4A4A_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 4 (MS4A4A), transcript variant 1, mRNA. 221 integral to membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 TGTGTTAATTCTGCCATCACA 0.438000 64 5 0 0 1 0 0 INCENP 3619 broad.mit.edu 37 11 61897294 61897294 + Silent SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:61897294C>A uc001nsw.1 + 3 497 c.295C>A c.(295-297)Cga>Aga p.R99R INCENP_uc009ynv.3_Silent_p.R99R|INCENP_uc009ynw.1_Silent_p.R99R|INCENP_uc001nsx.1_Silent_p.R99R NM_001040694 NP_001035784 Q9NQS7 INCE_HUMAN Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA. 99 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 GCTGAGCTCCCGACGCCTCCG 0.667000 26 9 3.86212e-05 3.90485e-05 1 1 0 SPATA16 83893 broad.mit.edu 37 3 172835108 172835108 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:172835108C>T uc003fin.4 - 1 598 c.414G>A c.(412-414)gaG>gaA p.E138E NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA. 138 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) ACTCTACAAACTCATAGCGAA 0.428000 25 4 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71892420 71892420 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:71892420C>T uc010fen.3 + 46 5444 c.5303C>T c.(5302-5304)tCc>tTc p.S1768F DYSF_uc010fei.3_Missense_Mutation_p.S1746F|DYSF_uc010feh.3_Missense_Mutation_p.S1736F|DYSF_uc002sig.4_Missense_Mutation_p.S1715F|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.S1760F|DYSF_uc010fee.3_Missense_Mutation_p.S1750F|DYSF_uc010fef.3_Missense_Mutation_p.S1767F|DYSF_uc002sie.3_Missense_Mutation_p.S1729F|DYSF_uc010feo.3_Missense_Mutation_p.S1761F|DYSF_uc010fej.3_Missense_Mutation_p.S1737F|DYSF_uc010fel.3_Missense_Mutation_p.S1716F|DYSF_uc010fem.3_Missense_Mutation_p.S1751F|DYSF_uc002sif.3_Missense_Mutation_p.S1730F|DYSF_uc010fek.3_Missense_Mutation_p.S1747F|DYSF_uc010yqy.2_Missense_Mutation_p.S610F|DYSF_uc010yqz.2_Missense_Mutation_p.S490F NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 1729 R -> W (in LGMD2B and proximodistal myopathy; uncetain pathogenicity). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 AAAGAATATTCCATTGAAGAG 0.532000 61 15 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50960763 50960763 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:50960763C>T uc009xog.3 - 2 514 c.480G>A c.(478-480)caG>caA p.Q160Q OGDHL_uc001jie.3_Silent_p.Q133Q|OGDHL_uc010qgt.2_Silent_p.Q76Q|OGDHL_uc010qgu.2_5'UTR|OGDHL_uc009xoh.2_5'UTR NM_001143997 NP_001137469 Q9ULD0 OGDHL_HUMAN Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 133 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GGGGGTCCAGCTGGGCCACAT 0.607000 80 12 0 0 1 0 0 FTSJD2 23070 broad.mit.edu 37 6 37411833 37411833 + Silent SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:37411833T>G uc003ons.3 + 2 445 c.192T>G c.(190-192)tcT>tcG p.S64S FTSJD2_uc010jwu.2_Silent_p.S64S NM_015050 NP_055865 Q8N1G2 MTR1_HUMAN Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA. 64 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2) 31 AACACAGCTCTGACTCTTTTG 0.428000 60 10 0 0 1 0 0 WDR3 10885 broad.mit.edu 37 1 118477254 118477254 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:118477254C>T uc010oxe.1 + 2 396 c.330C>T c.(328-330)atC>atT p.I110I WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_5'UTR NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN Homo sapiens WD repeat domain 3 (WDR3), mRNA. 110 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) AAGCAGCTATCACTACCTTGA 0.483000 67 5 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140167831 140167831 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140167831G>A uc003lhb.2 + 0 1956 c.1956G>A c.(1954-1956)aaG>aaA p.K652K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.K652K NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 663 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTAGTGAAGGATCACGGTG 0.657000 48 9 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23895018 23895018 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:23895018G>A uc001wjx.3 - 19 2278 c.2172C>T c.(2170-2172)atC>atT p.I724I NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 724 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTGGGTTCAGGATGCGATACC 0.547000 60 4 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 234072438 234072438 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:234072438C>T uc010zmo.2 + 10 1392 c.1239C>T c.(1237-1239)atC>atT p.I413I INPP5D_uc010zmp.2_Silent_p.I412I NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA. 442 T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration cytosol SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CGGACTACATCCCCCATGACA 0.557000 113 40 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20480946 20480946 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:20480946G>A uc010bwe.3 + 4 740 c.501G>A c.(499-501)gtG>gtA p.V167V ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Silent_p.V88V|ACSM2A_uc002dhf.4_Silent_p.V167V|ACSM2A_uc002dhg.4_Silent_p.V167V|ACSM2A_uc010vay.2_Silent_p.V88V NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA. 167 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 TCCAAGAAGTGGACACAGTGG 0.453000 54 9 0 0 1 0 0 FAM5C 339479 broad.mit.edu 37 1 190067856 190067856 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:190067856C>T uc001gse.1 - 7 1825 c.1593G>A c.(1591-1593)aaG>aaA p.K531K FAM5C_uc010pot.1_Silent_p.K429K NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 531 extracellular region p.R530C(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GGAGCATCCGCTTACGCCAGG 0.433000 89 9 0 0 1 0 0 RBMXL2 27288 broad.mit.edu 37 11 7110456 7110456 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:7110456C>T uc001mfc.2 + 0 292 c.105C>T c.(103-105)gtC>gtT p.V35V NM_014469 NP_055284 O75526 HNRGT_HUMAN Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA. 35 RRM. nucleus|ribonucleoprotein complex RNA binding|nucleotide binding p.V35V(2) NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCCGCATCGTCGAGGTGCTCC 0.597000 11 4 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 979003 979003 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:979003C>T uc001ack.2 + 8 1739 c.1689C>T c.(1687-1689)gcC>gcT p.A563A NM_198576 NP_940978 O00468 AGRIN_HUMAN Homo sapiens agrin (AGRN), mRNA. 563 Kazal-like 6. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton p.L562L(1) breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) TGGCTTTGGCCCAGCCCGTGT 0.687000 70 17 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100410379 100410379 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:100410379G>A uc003uwn.1 - 11 2599 c.2108C>T c.(2107-2109)tCc>tTc p.S703F EPHB4_uc003uwm.1_Missense_Mutation_p.S610F|EPHB4_uc010lhj.1_Missense_Mutation_p.S703F NM_004444 NP_004435 P54760 EPHB4_HUMAN Homo sapiens EPH receptor B4 (EPHB4), mRNA. 703 Protein kinase. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity p.D702N(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) CCGCAGGAAGGAGTCCAGGGC 0.607000 40 5 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124364289 124364289 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:124364289G>A uc001uft.4 + 48 8246 c.8221G>A c.(8221-8223)Gga>Aga p.G2741R NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 2741 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCTGCACGAAGGAGAACCACG 0.532000 215 14 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7583528 7583528 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:7583528C>T uc003mxp.1 + 23 6312 c.6033C>T c.(6031-6033)ttC>ttT p.F2011F DSP_uc003mxq.1_Silent_p.F1412F|DSP_uc021yle.1_Silent_p.F1568F NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2011 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TCCAGCCATTCCTTCGGGGTG 0.453000 45 5 0 0 1 0 0 GABBR2 9568 broad.mit.edu 37 9 101340338 101340338 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:101340338C>T uc004ays.3 - 1 798 c.338G>A c.(337-339)gGg>gAg p.G113E NM_005458 NP_005449 O75899 GABR2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA. 113 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.G113G(1) NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) GGCTTTCAACCCTTTTGCGTT 0.473000 43 5 0 0 1 0 0 PPP1R9B 84687 broad.mit.edu 37 17 48212929 48212929 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:48212929G>A uc002iqh.4 - 9 2368 c.2365C>T c.(2365-2367)Ctc>Ttc p.L789F NM_032595 NP_115984 Q96SB3 NEB2_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 9B (PPP1R9B), mRNA. 795 Interacts with TGN38 (By similarity). RNA splicing|cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 TTGTCCAGGAGCTTGTCCATC 0.637000 13 4 0 0 1 0 0 TTC7B 145567 broad.mit.edu 37 14 91146873 91146873 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:91146873A>T uc001xyp.3 - 7 1079 c.957T>A c.(955-957)ttT>ttA p.F319L TTC7B_uc010ats.3_Non-coding_Transcript NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA. 319 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) CTTGAGGACAAAAAATGCTGC 0.358000 34 5 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12460289 12460290 + Missense_Mutation DNP CC AT AT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12460289_12460290CC>AT uc001atv.3 + 60 11827_11828 c.11686_11687CC>AT c.(11686-11688)ccc>ATc p.P3896I VPS13D_uc001atw.3_Missense_Mutation_p.P3871I|VPS13D_uc001atx.3_Missense_Mutation_p.P3083I|VPS13D_uc009vnl.3_Non-coding_Transcript NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 3895 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CTATGTGACTCCCCTGAGCAAT 0.515000 75 12 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169791884 169791884 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:169791884C>T uc002ueo.1 - 22 2992 c.2866G>A c.(2866-2868)Gag>Aag p.E956K ABCB11_uc010zda.1_Missense_Mutation_p.E398K|ABCB11_uc010zdb.1_Missense_Mutation_p.E432K NM_003742 NP_003733 O95342 ABCBB_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA. 956 ABC transmembrane type-1 2. bile acid biosynthetic process Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) AACCGCCTCTCCTTTCCAATT 0.443000 63 18 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23856860 23856860 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:23856860C>T uc001wjv.3 - 31 4599 c.4528G>A c.(4528-4530)Gaa>Aaa p.E1510K NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 1510 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TCCGAGATTTCCTCTGGGGAC 0.582000 59 5 0 0 1 0 0 CCDC105 126402 broad.mit.edu 37 19 15131353 15131353 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:15131353G>A uc002nae.2 + 2 855 c.756G>A c.(754-756)ctG>ctA p.L252L NM_173482 NP_775753 Q8IYK2 CC105_HUMAN Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA. 252 microtubule cytoskeleton organization microtubule p.P251L(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 ACCAGCCTCTGGACAAGGTTC 0.632000 46 5 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13729599 13729599 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:13729599C>T uc003jfd.2 - 68 11874 c.11832G>A c.(11830-11832)ctG>ctA p.L3944L DNAH5_uc003jfc.2_Silent_p.L112L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3944 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCACCAAATTCAGCCATGTTA 0.373000 Kartagener syndrome 32 6 0 0 1 0 0 TSSC4 10078 broad.mit.edu 37 11 2424185 2424185 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:2424185C>T uc021qcg.1 + 0 322 c.322C>T c.(322-324)Cca>Tca p.P108S TSSC4_uc001lwi.3_Missense_Mutation_p.P44S|TSSC4_uc001lwk.3_Missense_Mutation_p.P108S|TSSC4_uc001lwl.3_Missense_Mutation_p.P108S NM_005706 NP_005697 Q9Y5U2 TSSC4_HUMAN Homo sapiens tumor suppressing subtransferable candidate 4 (TSSC4), mRNA. 108 endometrium(3)|large_intestine(1)|lung(4) 8 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGACGGGCTCCATCCTCTGT 0.657000 385 67 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70534928 70534928 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:70534928G>A uc002ezc.3 - 8 1139 c.1128C>T c.(1126-1128)ttC>ttT p.F376F COG4_uc002ezd.3_Silent_p.F376F|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_Silent_p.F70F NM_015386 NP_056201 Q9H9E3 COG4_HUMAN Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA. 372 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) TCTTCTTGAGGAAGCGTAAGT 0.488000 63 9 0 0 1 0 0 BIN2 51411 broad.mit.edu 37 12 51690900 51690900 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:51690900C>T uc001ryg.3 - 7 703 c.651G>A c.(649-651)agG>agA p.R217R BIN2_uc009zlz.3_Silent_p.R185R|BIN2_uc001ryh.3_Silent_p.R93R|BIN2_uc010sng.2_Silent_p.R191R NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN Homo sapiens bridging integrator 2 (BIN2), mRNA. 217 BAR. cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 AGAAGACATCCCTCAAGTTGG 0.433000 46 8 0 0 1 0 0 CLGN 1047 broad.mit.edu 37 4 141331012 141331012 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:141331012C>T uc011chi.2 - 4 474 c.256G>A c.(256-258)Gag>Aag p.E86K CLGN_uc003iii.3_Missense_Mutation_p.E86K NM_001130675 NP_004353 O14967 CLGN_HUMAN Homo sapiens calmegin (CLGN), transcript variant 2, mRNA. 86 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) GAAATTTCCTCATCCATGTCA 0.274000 56 5 0 0 1 0 0 CDO1 1036 broad.mit.edu 37 5 115152029 115152029 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:115152029G>A uc003krg.3 - 0 377 c.66C>T c.(64-66)ctC>ctT p.L22L NM_001801 NP_001792 Q16878 CDO1_HUMAN Homo sapiens cysteine dioxygenase, type I (CDO1), mRNA. 22 inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process cytosol cysteine dioxygenase activity p.L22P(1) breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5) 11 all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776) OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05) L-Cysteine(DB00151)|NADH(DB00157) CGCCGGCAAAGAGCTGGTGCA 0.612000 155 7 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127336826 127336826 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:127336826C>T uc003ejp.3 + 11 1972 c.1915C>T c.(1915-1917)Ccc>Tcc p.P639S MCM2_uc011bkm.2_Missense_Mutation_p.P509S|MCM2_uc010hsl.3_Intron|MCM2_uc011bkn.2_Missense_Mutation_p.P592S NM_004526 NP_004517 P49736 MCM2_HUMAN Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA. 639 MCM. DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex|chromatin ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 GCGCTACGACCCCTCGCTGAC 0.597000 22 4 0 0 1 0 0 MAU2 23383 broad.mit.edu 37 19 19448000 19448001 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:19448000_19448001CC>TT uc002nmk.4 + 3 421_422 c.382_383CC>TT c.(382-384)ccg>TTg p.P128L NM_015329 NP_056144 Q9Y6X3 SCC4_HUMAN Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA. 128 cell division|maintenance of mitotic sister chromatid cohesion SMC loading complex|chromatin|nucleoplasm protein N-terminus binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 18 TGCAGCAAAGCCGCTGCTGCGG 0.530000 27 5 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100383691 100383691 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:100383691G>A uc003uwj.3 + 37 7069 c.6904G>A c.(6904-6906)Gac>Aac p.D2302N ZAN_uc003uwk.3_Missense_Mutation_p.D2302N|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.D353N NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 2303 VWFC 4. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TCAGTGCGGGGACTTCCGATG 0.582000 74 6 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38783842 38783842 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:38783842C>T uc003ciq.3 - 12 2046 c.2046G>A c.(2044-2046)atG>atA p.M682I NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 682 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GCTCCATGGCCATGAAGATGG 0.552000 55 8 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118773327 118773327 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:118773327G>A uc001pug.3 - 5 2090 c.1125C>T c.(1123-1125)ccC>ccT p.P375P BCL9L_uc009zal.3_Silent_p.P370P NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA. 375 Necessary for interaction with CTNNB1 (By similarity).|Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GGGCAGGGCCGGGGGCACTGC 0.692000 51 5 0 0 1 0 0 ZC3H6 376940 broad.mit.edu 37 2 113089541 113089541 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:113089541T>G uc002thq.1 + 11 3440 c.3046T>G c.(3046-3048)Tct>Gct p.S1016A NM_198581 NP_940983 P61129 ZC3H6_HUMAN Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA. 1016 nucleic acid binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 AACTAGCAATTCTGGTTCCGG 0.502000 21 3 0 0 1 0 0 MLL2 8085 broad.mit.edu 37 12 49445423 49445423 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:49445423G>A uc001rta.4 - 9 2043 c.2043C>T c.(2041-2043)tcC>tcT p.S681S NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 681 Pro-rich. Missing (in Ref. 1; AAC51734). chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 CAGGTGGAGGGGACGTGGGAG 0.662000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 68 7 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55229227 55229227 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:55229227C>T uc003tqk.3 + 12 1780 c.1534C>T c.(1534-1536)Ccc>Tcc p.P512S EGFR_uc003tqi.3_Missense_Mutation_p.P512S|EGFR_uc003tqj.3_Missense_Mutation_p.P512S|EGFR_uc022adm.1_Missense_Mutation_p.P512S|EGFR_uc010kzg.2_Missense_Mutation_p.P467S|EGFR_uc022adn.1_Missense_Mutation_p.P467S|EGFR_uc011kco.2_Missense_Mutation_p.P459S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 512 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CTTGTGCTCCCCCGAGGGCTG 0.662000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 108 10 0 0 1 0 0 MED17 9440 broad.mit.edu 37 11 93530766 93530766 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:93530766G>A uc001pem.4 + 7 1484 c.1209G>A c.(1207-1209)aaG>aaA p.K403K NM_004268 NP_004259 Q9NVC6 MED17_HUMAN Homo sapiens mediator complex subunit 17 (MED17), mRNA. 403 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(2)|lung(11)|ovary(1) 14 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TTGGCCACAAGAGAATGAGAC 0.368000 38 4 0 0 1 0 0 SERPINA13 388007 broad.mit.edu 37 14 95108047 95108047 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:95108047C>T uc001ydt.3 + 1 652 c.564C>T c.(562-564)ccC>ccT p.P188P Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA. endometrium(1)|large_intestine(1)|lung(9)|skin(1) 12 GGCAGGGTCCCCGGCTCCTCC 0.627000 89 13 0 0 1 0 0 ADCYAP1 116 broad.mit.edu 37 18 905403 905403 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:905403G>A uc010dkg.3 + 1 135 c.16G>A c.(16-18)Gga>Aga p.G6R ADCYAP1_uc010dkh.3_Missense_Mutation_p.G6R NM_001099733 NP_001108 P18509 PACA_HUMAN Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) (ADCYAP1), transcript variant 1, mRNA. 6 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding p.G6R(2)|p.S5R(1) endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 CATGTGTAGCGGAGCGAGGCT 0.617000 88 5 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34182037 34182037 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:34182037C>T uc001bxm.1 - 19 3243 c.3066G>A c.(3064-3066)gaG>gaA p.E1022E CSMD2_uc001bxn.1_Silent_p.E982E NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 982 CUB 6. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGCTGCCGTTCTCAGTGATGA 0.582000 53 4 0 0 1 0 0 GLT25D1 79709 broad.mit.edu 37 19 17679497 17679497 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:17679497C>T uc002nhc.1 + 4 816 c.804C>T c.(802-804)gtC>gtT p.V268V GLT25D1_uc010eax.1_Silent_p.V36V NM_024656 NP_078932 Q8NBJ5 GT251_HUMAN Homo sapiens glycosyltransferase 25 domain containing 1 (GLT25D1), mRNA. 268 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 14 ACATCATCGTCTTTGCCTTCT 0.567000 32 5 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105421878 105421878 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:105421878G>A uc010axc.1 - 4 528 c.408C>T c.(406-408)atC>atT p.I136I AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Silent_p.I36I NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 136 PDZ. nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCTTGACGAAGATCCCCTGGT 0.582000 65 10 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25925990 25925990 + Silent SNP G A A rs142515299 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:25925990G>A uc010ayu.3 - 18 3751 c.3645C>T c.(3643-3645)ttC>ttT p.F1215F NM_024490 NP_077816 O60312 AT10A_HUMAN Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA. 1215 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GGTGGAGCAGGAAAGTGAGCA 0.562000 114 6 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96944950 96944950 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:96944950G>A uc001yfn.2 + 14 1748 c.1704G>A c.(1702-1704)gaG>gaA p.E568E NM_152327 NP_689540 Q96M32 KAD7_HUMAN Homo sapiens adenylate kinase 7 (AK7), mRNA. 568 cell projection organization cytosol ATP binding|adenylate kinase activity|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) TCGACGATGAGACTGTCTTCA 0.468000 63 4 0 0 1 0 0 IL2RB 3560 broad.mit.edu 37 22 37524243 37524243 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:37524243G>A uc003aqv.1 - 9 1680 c.1549C>T c.(1549-1551)Cct>Tct p.P517S NM_000878 NP_000869 P14784 IL2RB_HUMAN Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA. 517 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) CCCTGCCCAGGAGGCCTGGAC 0.632000 54 11 0 0 1 0 0 AQP2 359 broad.mit.edu 37 12 50344697 50344697 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:50344697C>T uc001rvn.3 + 0 174 c.84C>T c.(82-84)ctC>ctT p.L28L NM_000486 NP_000477 P41181 AQP2_HUMAN Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA. 28 L -> P (in ANDI). cellular response to copper ion|cellular response to mercury ion|excretion apical plasma membrane|integral to membrane|transport vesicle membrane glycerol transmembrane transporter activity|water channel activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2) 10 TCTTTGGCCTCGGCTCTGCCC 0.617000 64 5 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60902994 60902994 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:60902994G>A uc002ycq.3 - 35 4792 c.4725C>T c.(4723-4725)cgC>cgT p.R1575R LAMA5_uc021wfw.1_Silent_p.R1575R NM_005560 NP_005551 O15230 LAMA5_HUMAN Homo sapiens laminin, alpha 5 (LAMA5), mRNA. 1575 Laminin EGF-like 14. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding p.R1575H(1) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGTCACAGGGGCGGCAGCGGG 0.687000 78 6 0 0 1 0 0 ACRV1 56 broad.mit.edu 37 11 125547731 125547731 + Missense_Mutation SNP C G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:125547731C>G uc001qcs.3 - 1 632 c.514G>C c.(514-516)Gaa>Caa p.E172Q ACRV1_uc001qcl.3_Missense_Mutation_p.E102Q|ACRV1_uc001qcn.3_Missense_Mutation_p.E117Q|ACRV1_uc001qcr.3_Intron NM_001612 NP_001603 P26436 ASPX_HUMAN Homo sapiens acrosomal vesicle protein 1 (ACRV1), transcript variant 1, mRNA. 172 9 X 5 AA repeats of [SV]-G-E-Q-[PSA]. multicellular organismal development acrosomal vesicle kidney(1)|large_intestine(3)|lung(2) 6 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713) GAAGCCTGTTCCCCTGAAGCG 0.542000 33 9 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129293293 129293293 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:129293293G>A uc003emx.2 - 11 2671 c.2571C>T c.(2569-2571)tcC>tcT p.S857S NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN Homo sapiens plexin D1 (PLXND1), mRNA. 857 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CCAGGCACTGGGAACAGTCGG 0.687000 28 5 0 0 1 0 0 ANKMY1 51281 broad.mit.edu 37 2 241463769 241463769 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:241463769G>A uc010fzd.1 - 7 1490 c.1365C>T c.(1363-1365)atC>atT p.I455I ANKMY1_uc002vzb.1_Silent_p.I225I|ANKMY1_uc002vzc.1_Silent_p.I225I|ANKMY1_uc002vyz.1_Silent_p.I366I|ANKMY1_uc002vza.1_Silent_p.I225I|ANKMY1_uc002vzd.1_Silent_p.I225I|ANKMY1_uc010fze.2_Silent_p.I35I|ANKMY1_uc002vze.3_Silent_p.I127I NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA. 366 N -> D (in Ref. 4; CAB66553). zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) ATGATGAAAGGATTGGAACAA 0.448000 49 6 0 0 1 0 0 EFCAB3 146779 broad.mit.edu 37 17 60484011 60484011 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:60484011T>G uc010wpc.2 + 8 886 c.815T>G c.(814-816)tTt>tGt p.F272C EFCAB3_uc002izu.2_Missense_Mutation_p.F220C NM_001144933 NP_001138405 Q8N7B9 EFCB3_HUMAN Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA. 220 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) AAGGATTTATTTAAATTTCTT 0.388000 13 5 0 0 1 0 0 RNPEPL1 57140 broad.mit.edu 37 2 241516008 241516008 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:241516008C>T uc002vzi.3 + 8 1567 c.874C>T c.(874-876)Ctg>Ttg p.L292L RNPEPL1_uc002vzj.3_5'UTR NM_018226 NP_060696 Q9HAU8 RNPL1_HUMAN Homo sapiens arginyl aminopeptidase (aminopeptidase B)-like 1 (RNPEPL1), mRNA. 292 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 13 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) TGAGCCGGACCTGTCTCAGGG 0.667000 45 10 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8999555 8999555 + Silent SNP C T T rs143160605 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:8999555C>T uc002mkp.3 - 55 40824 c.40620G>A c.(40618-40620)aaG>aaA p.K13540K MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.K357K|MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13542 SEA 10. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGCCCCATCCTTCTTGGGCC 0.602000 20 9 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73680069 73680069 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:73680069C>T uc002sje.1 + 7 6523 c.6412C>T c.(6412-6414)Cct>Tct p.P2138S ALMS1_uc002sjf.1_Missense_Mutation_p.P2096S|ALMS1_uc002sjg.3_Missense_Mutation_p.P1526S|ALMS1_uc002sjh.1_Missense_Mutation_p.P1526S NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 2138 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 AACAGCTCTTCCTAGTTCCTT 0.413000 17 8 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68177503 68177503 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:68177503G>A uc001ont.3 + 9 2288 c.2213G>A c.(2212-2214)gGg>gAg p.G738E LRP5_uc009ysg.3_Missense_Mutation_p.G148E NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 738 Beta-propeller 3. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GCCGACACTGGGACCAACAGA 0.637000 68 8 0 0 1 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179545696 179545696 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:179545696C>T uc003mlq.3 - 8 1293 c.996G>A c.(994-996)atG>atA p.M332I RASGEF1C_uc003mlr.3_Missense_Mutation_p.M332I|RASGEF1C_uc003mlp.4_Missense_Mutation_p.M181I NM_175062 NP_778232 Q8N431 RGF1C_HUMAN Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA. 332 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCGTTGGGTCCATCTGGTGCT 0.662000 90 10 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75157289 75157289 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:75157289C>T uc003yae.3 - 3 1420 c.1380G>A c.(1378-1380)acG>acA p.T460T JPH1_uc003yaf.3_Silent_p.T460T|JPH1_uc003yag.1_Silent_p.T324T NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN Homo sapiens junctophilin 1 (JPH1), mRNA. 460 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) TTGGGGGTGTCGTGCCTTTGC 0.507000 91 15 0 0 1 0 0 GGT7 2686 broad.mit.edu 37 20 33440071 33440071 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:33440071G>A uc002xay.3 - 11 1517 c.1474C>T c.(1474-1476)Ctg>Ttg p.L492L GGT7_uc010gex.3_5'Flank|GGT7_uc002xaz.1_Silent_p.L509L NM_178026 NP_821158 Q9UJ14 GGT7_HUMAN Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA. 492 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 GGCTGGTTCAGGGAGCTGGGG 0.637000 58 7 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3117819 3117819 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:3117819C>T uc021xkv.1 + 7 1042 c.897C>T c.(895-897)ctC>ctT p.L299L NM_002111 NP_002102 P42858 HD_HUMAN Homo sapiens huntingtin (HTT), mRNA. 299 Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CAGGCTTACTCGTTCCTGTCG 0.498000 122 12 0 0 1 0 0 EXOC3L1 283849 broad.mit.edu 37 16 67220542 67220542 + Missense_Mutation SNP G A A rs145228772 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:67220542G>A uc002erx.1 - 7 1544 c.1303C>T c.(1303-1305)Cgt>Tgt p.R435C KIAA0895L_uc002ert.3_5'Flank|KIAA0895L_uc002eru.3_5'Flank|EXOC3L1_uc002erv.1_Non-coding_Transcript|EXOC3L1_uc002erw.1_Missense_Mutation_p.R86C|EXOC3L1_uc010vje.1_Missense_Mutation_p.R332C|EXOC3L1_uc002ery.1_Missense_Mutation_p.R337C NM_178516 NP_848611 Q86VI1 EX3L1_HUMAN Homo sapiens exocyst complex component 3-like 1 (EXOC3L1), mRNA. 435 exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 21 CTGGCCACACGAATGTTCTCT 0.582000 73 6 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 93017384 93017384 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:93017384G>A uc022axs.1 - 5 1064 c.877C>T c.(877-879)Ctc>Ttc p.L293F RUNX1T1_uc003yfc.2_Missense_Mutation_p.L207F|RUNX1T1_uc010mam.3_Missense_Mutation_p.L207F|RUNX1T1_uc003yfe.2_Missense_Mutation_p.L197F|RUNX1T1_uc003yfd.3_Missense_Mutation_p.L234F|RUNX1T1_uc022axo.1_Missense_Mutation_p.L234F|RUNX1T1_uc010mao.3_Missense_Mutation_p.L207F|RUNX1T1_uc011lgi.2_Missense_Mutation_p.L245F|RUNX1T1_uc022axp.1_Missense_Mutation_p.L234F|RUNX1T1_uc022axq.1_Missense_Mutation_p.L234F|RUNX1T1_uc022axr.1_Missense_Mutation_p.L234F|RUNX1T1_uc022axt.1_Missense_Mutation_p.L234F|RUNX1T1_uc022axu.1_Missense_Mutation_p.L214F|RUNX1T1_uc022axv.1_Missense_Mutation_p.L234F|RUNX1T1_uc003yfb.2_Missense_Mutation_p.L197F|RUNX1T1_uc003yff.1_Missense_Mutation_p.L197F NM_001198679 NP_001185608 Q06455 MTG8_HUMAN Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA. 234 Poly-Pro. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TTCACATCGAGAAGCAGCTCT 0.557000 50 6 0 0 1 0 0 GJA1 2697 broad.mit.edu 37 6 121768829 121768829 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:121768829C>T uc003pyr.3 + 1 1086 c.836C>T c.(835-837)tCg>tTg p.S279L GJA1_uc011ebo.1_Missense_Mutation_p.S180L|GJA1_uc011ebp.1_Missense_Mutation_p.S67L|GJA1_uc021zel.1_Missense_Mutation_p.S279L NM_000165 NP_000156 P17302 CXA1_HUMAN Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA. 279 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity p.S279L(2) autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) GCTCCCCTCTCGCCTATGTCT 0.507000 71 6 0 0 1 0 0 KYNU 8942 broad.mit.edu 37 2 143790850 143790850 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:143790850C>T uc010fnm.3 + 12 1217 c.1001C>T c.(1000-1002)cCt>cTt p.P334L KYNU_uc002tvl.3_Missense_Mutation_p.P334L NM_001199241 NP_001186170 Q16719 KYNU_HUMAN Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA. 334 NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) ATTTCAAATCCTCCCATTTTG 0.378000 95 18 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 72050249 72050249 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:72050249G>A uc002atb.1 + 13 2503 c.2424G>A c.(2422-2424)gcG>gcA p.A808A THSD4_uc002ate.2_Silent_p.A448A|THSD4_uc002atg.1_Silent_p.A11A NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA. 808 TSP type-1 4. proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AGTGCTCAGCGGAGTGTGGGG 0.607000 54 14 0 0 1 0 0 GNB5 10681 broad.mit.edu 37 15 52433395 52433395 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:52433395G>A uc002abt.1 - 6 634 c.569C>T c.(568-570)tCt>tTt p.S190F GNB5_uc002abr.1_Missense_Mutation_p.S148F|GNB5_uc002abs.1_Intron NM_016194 NP_057278 O14775 GBB5_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), beta 5 (GNB5), transcript variant 2, mRNA. 190 heterotrimeric G-protein complex GTPase activity|signal transducer activity large_intestine(1)|lung(1) 2 all cancers(107;0.0163) CATAGCAACAGACTTCTTTTT 0.473000 52 5 0 0 1 0 0 CES3 23491 broad.mit.edu 37 16 66997830 66997830 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:66997830C>T uc002eqt.3 + 3 631 c.552C>T c.(550-552)ggC>ggT p.G184G CES3_uc010cdz.3_Silent_p.G184G NM_024922 NP_079198 Q6UWW8 EST3_HUMAN Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA. 184 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) GGGTCCTTGGCTTCTTCAGGT 0.607000 65 7 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110424606 110424606 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:110424606G>A uc003yne.3 + 19 2302 c.2198G>A c.(2197-2199)cGa>cAa p.R733Q NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 733 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CCAAACAGACGACCATATGGA 0.368000 HNSCC(38;0.096) 13 3 0 0 1 0 0 LCK 3932 broad.mit.edu 37 1 32751115 32751115 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:32751115G>A uc001bux.3 + 13 1466 c.1328_splice c.e13-1 p.G443_splice LCK_uc001buy.3_Splice_Site_p.G443_splice|LCK_uc001buz.3_Splice_Site_p.G473_splice|LCK_uc001bva.3_Splice_Site_p.G450_splice NM_005356 NP_005347 P06239 LCK_HUMAN Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA. 443 Protein kinase. T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) CAACCCGTAGGGATGACCAAC 0.547000 T TRB@ T-ALL 98 14 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150649663 150649663 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:150649663G>A uc003wic.3 - 5 1808 c.1407C>T c.(1405-1407)atC>atT p.I469I KCNH2_uc003wib.3_Silent_p.I129I|KCNH2_uc011kux.2_Silent_p.I373I|KCNH2_uc003wid.3_Silent_p.I129I|KCNH2_uc003wie.3_Silent_p.I469I NM_000238 NP_000229 Q12809 KCNH2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA. 469 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity p.L468F(1) NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) TGCGGAAGTTGATGAGGATGT 0.607000 92 20 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10998311 10998311 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:10998311C>T uc002yis.1 - 10 c.1942G>A P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTCTGATTTTCCATCACAATC 0.363000 60 8 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166201356 166201356 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:166201356G>A uc002udc.3 + 15 3144 c.2854G>A c.(2854-2856)Gag>Aag p.E952K SCN2A_uc002udd.3_Missense_Mutation_p.E952K|SCN2A_uc002ude.3_Missense_Mutation_p.E952K NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 952 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GGACTGTATGGAGGTCGCTGG 0.468000 67 12 0 0 1 0 0 CAPN9 10753 broad.mit.edu 37 1 230895368 230895368 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:230895368C>T uc001htz.1 + 2 507 c.394C>T c.(394-396)Cat>Tat p.H132Y CAPN9_uc009xfg.1_Intron|CAPN9_uc001hua.1_Missense_Mutation_p.H132Y NM_006615 NP_006606 O14815 CAN9_HUMAN Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA. 132 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) CGGGATATTCCATTTCCAGGT 0.557000 21 6 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10406151 10406151 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:10406151C>T uc002gmo.3 - 23 3109 c.3015G>A c.(3013-3015)gaG>gaA p.E1005E AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1005 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GCTGGTGGGCCTCCTGGAGAG 0.488000 72 9 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36486685 36486685 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:36486685C>T uc002hpz.3 - 10 2788 c.2767G>A c.(2767-2769)Gag>Aag p.E923K NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA. 923 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CTCCTAGCCTCCTCATGAAGC 0.642000 14 3 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42489539 42489539 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:42489539G>A uc002osh.3 - 6 797 c.643C>T c.(643-645)Cag>Tag p.Q215* ATP1A3_uc010xwf.2_Nonsense_Mutation_p.Q226*|ATP1A3_uc010xwg.2_Nonsense_Mutation_p.Q185*|ATP1A3_uc002osg.3_Nonsense_Mutation_p.Q215*|ATP1A3_uc010xwh.2_Nonsense_Mutation_p.Q228* P13637 AT1A3_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA. 215 ATP biosynthetic process Golgi apparatus|endoplasmic reticulum ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 GAGCGAGTCTGGGGCTCGGAT 0.587000 66 6 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17418802 17418802 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:17418802C>T uc001mnc.3 - 31 4052 c.3926G>A c.(3925-3927)gGg>gAg p.G1309E NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 1309 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CTTCACAGCCCCCAGCTGGAG 0.612000 129 22 0 0 1 0 0 VPREB1 7441 broad.mit.edu 37 22 22599490 22599490 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:22599490G>A uc002zvx.1 + 1 205 c.179G>A c.(178-180)aGg>aAg p.R60K abParts_uc021wml.1_Intron NM_007128 NP_009059 P12018 VPREB_HUMAN Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA. 60 Framework-2.|Ig-like V-type. immune response extracellular region antigen binding|protein binding large_intestine(1)|liver(1)|lung(6)|skin(1) 9 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) TACCAGCAGAGGCCGGGCCAC 0.602000 88 25 0 0 1 0 0 IL2RG 3561 broad.mit.edu 37 X 70330370 70330370 + Silent SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:70330370T>C uc004dyw.2 - 2 530 c.438A>G c.(436-438)ctA>ctG p.L146L IL2RG_uc004dyv.2_5'Flank|IL2RG_uc004dyx.2_Intron NM_000206 NP_000197 P31785 IL2RG_HUMAN Homo sapiens interleukin 2 receptor, gamma (IL2RG), mRNA. 146 immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 15 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) TCTGCAGTTTTAGCATCTGTG 0.468000 Severe Combined Immunodeficiency, X-linked 48 5 0 0 1 0 0 MLC1 23209 broad.mit.edu 37 22 50521574 50521574 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:50521574G>A uc003bjg.1 - 2 479 c.206C>T c.(205-207)tCg>tTg p.S69L MLC1_uc011arl.1_Missense_Mutation_p.S69L|MLC1_uc003bjh.1_Missense_Mutation_p.S69L|MLC1_uc011arm.1_Intron|MLC1_uc011arn.1_5'UTR|MLC1_uc011aro.1_Missense_Mutation_p.S69L NM_139202 NP_631941 Q15049 MLC1_HUMAN Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA. 69 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3) 18 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) CAGGTACAGCGAAAACCCCGA 0.607000 72 6 0 0 1 0 0 C2orf18 54978 broad.mit.edu 37 2 27001361 27001361 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:27001361C>T uc002rhp.1 + 5 1174 c.1098C>T c.(1096-1098)ccC>ccT p.P366P C2orf18_uc002rhq.1_Silent_p.P283P|C2orf18_uc010eyo.1_Silent_p.P313P|C2orf18_uc010ylc.1_Silent_p.P219P NM_017877 NP_060347 Q8N357 CB018_HUMAN Homo sapiens chromosome 2 open reading frame 18 (C2orf18), mRNA. 366 integral to membrane|lysosomal membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCGCACTCCCATCAATGATG 0.667000 21 10 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55956149 55956149 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:55956149C>T uc003has.3 - 22 3468 c.3166G>A c.(3166-3168)Gat>Aat p.D1056N KDR_uc003hat.1_Missense_Mutation_p.D1056N NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 1056 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TAATCTGGATCTTTATAAATA 0.428000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 22 5 0 0 1 0 0 ZACN 353174 broad.mit.edu 37 17 74075362 74075362 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:74075362C>T uc002jqn.2 + 0 100 c.17C>T c.(16-18)tCc>tTc p.S6F ZACN_uc002jqo.2_Non-coding_Transcript|ZACN_uc010dgu.2_Non-coding_Transcript NM_180990 NP_851321 Q401N2 ZACN_HUMAN Homo sapiens zinc activated ligand-gated ion channel (ZACN), mRNA. 6 response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 GCCCTATGGTCCCTGCTCCAT 0.582000 25 4 0 0 1 0 0 LRRC52 440699 broad.mit.edu 37 1 165513553 165513553 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:165513553C>T uc001gde.2 + 0 76 c.20C>T c.(19-21)cCt>cTt p.P7L LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA. 7 integral to membrane p.G6C(1) NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1) 18 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) GCTTCAGGCCCTGGCCCTGGG 0.547000 70 4 0 0 1 0 0 AKAP1 8165 broad.mit.edu 37 17 55183711 55183711 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:55183711C>T uc010wnl.2 + 2 1168 c.886C>T c.(886-888)Cag>Tag p.Q296* AKAP1_uc002iux.3_Nonsense_Mutation_p.Q296*|AKAP1_uc021uak.1_Nonsense_Mutation_p.Q296*|AKAP1_uc010dcm.3_Nonsense_Mutation_p.Q296*|AKAP1_uc002iuy.3_Non-coding_Transcript NM_001242902 NP_001229831 Q92667 AKAP1_HUMAN Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA. 296 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane RNA binding|protein binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) CGCCAAAGCCCAGGATAGAGG 0.547000 93 9 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145075690 145075690 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:145075690C>T uc001elo.3 - 0 497 c.173G>A c.(172-174)gGg>gAg p.G58E NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001emh.3_Missense_Mutation_p.G58E|PDE4DIP_uc001emk.3_Non-coding_Transcript NM_022359 NP_071754 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 3, mRNA. 725 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGCCCAGCTCCCGGCTGGCTC 0.721000 T PDGFRB MPD 103 7 0 0 1 0 0 MPPE1 65258 broad.mit.edu 37 18 11889433 11889433 + Silent SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:11889433T>C uc002kqf.3 - 4 1243 c.447A>G c.(445-447)gtA>gtG p.V149V MPPE1_uc002kqg.3_Non-coding_Transcript|MPPE1_uc002kqh.3_Non-coding_Transcript|MPPE1_uc002kqi.3_Non-coding_Transcript|MPPE1_uc002kqn.3_Silent_p.V149V|MPPE1_uc002kqm.3_Silent_p.V149V|MPPE1_uc010dla.2_Silent_p.V149V NM_023075 NP_075563 Q53F39 MPPE1_HUMAN Homo sapiens metallophosphoesterase 1 (MPPE1), transcript variant 1, mRNA. 149 ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process ER-Golgi intermediate compartment membrane|cis-Golgi network|endoplasmic reticulum exit site|integral to membrane GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 5 CCTTCAGCTGTACATGACTTG 0.468000 56 7 0 0 1 0 0 RAB3IL1 5866 broad.mit.edu 37 11 61672311 61672311 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:61672311G>A uc001nso.3 - 5 859 c.701C>T c.(700-702)tCc>tTc p.S234F RAB3IL1_uc001nsp.3_Missense_Mutation_p.S208F NM_013401 NP_037533 Q8TBN0 R3GEF_HUMAN Homo sapiens RAB3A interacting protein (rabin3)-like 1 (RAB3IL1), mRNA. 234 protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1) 14 CAGGGTGGGGGATTCCCTCCA 0.632000 70 9 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200950209 200950209 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:200950209C>T uc001gvs.2 - 28 4175 c.3858G>A c.(3856-3858)ccG>ccA p.P1286P KIF21B_uc009wzl.2_Silent_p.P1286P|KIF21B_uc001gvr.2_Silent_p.P1273P|KIF21B_uc010ppn.2_Silent_p.P1273P NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 1286 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CTCCTCCAACCGGGGAGATGA 0.637000 57 9 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228464218 228464218 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:228464218G>A uc009xez.1 + 21 6332 c.6288G>A c.(6286-6288)atG>atA p.M2096I OBSCN_uc001hsn.3_Missense_Mutation_p.M2096I|OBSCN_uc001hsp.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 2096 Ig-like 21. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CGGCTACCATGGAGGTGCAGC 0.706000 62 8 0 0 1 0 0 TXLNB 167838 broad.mit.edu 37 6 139564004 139564004 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:139564004C>T uc021zfy.1 - 9 1879 c.1714G>A c.(1714-1716)Gaa>Aaa p.E572K NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN Homo sapiens taxilin beta (TXLNB), mRNA. 572 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) GAGGGAGGTTCAGCATCACTG 0.597000 61 6 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128150661 128150661 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:128150661C>T uc011ebt.2 - 2 818 c.669G>A c.(667-669)ctG>ctA p.L223L THEMIS_uc010kfa.3_Silent_p.L126L|THEMIS_uc021zfa.1_Silent_p.L223L|THEMIS_uc010kfb.3_Silent_p.L188L NM_001164685 NP_001158157 Q8N1K5 THMS1_HUMAN Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA. 223 CABIT 1. T cell receptor signaling pathway|negative T cell selection|positive T cell selection cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 GCTTGAGAATCAGGGTACCAT 0.373000 48 5 0 0 1 0 0 RNF4 6047 broad.mit.edu 37 4 2515531 2515531 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:2515531C>T uc003gfb.3 + 7 906 c.558C>T c.(556-558)caC>caT p.H186H RNF4_uc010icj.3_3'UTR|RNF4_uc003gfc.3_Silent_p.H186H NM_002938 NP_002929 P78317 RNF4_HUMAN Homo sapiens ring finger protein 4 (RNF4), transcript variant 2, mRNA. 186 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance PML body|cytoplasm DNA binding|SUMO polymer binding|androgen receptor binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding p.H220Q(1) endometrium(2)|kidney(2)|lung(1) 5 all_epithelial(65;0.241) AACGGTACCACCCCATTTATA 0.488000 90 4 0 0 1 0 0 SLC25A26 115286 broad.mit.edu 37 3 66428150 66428150 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:66428150C>T uc011bfq.2 + 10 1472 c.744C>T c.(742-744)atC>atT p.I248I SLC25A26_uc011bfs.2_Silent_p.I160I|SLC25A26_uc011bft.2_Non-coding_Transcript NM_173471 NP_001158268 Q70HW3 SAMC_HUMAN Homo sapiens solute carrier family 25, member 26 (SLC25A26), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 248 integral to membrane|mitochondrial inner membrane|nucleus S-adenosylmethionine transmembrane transporter activity endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1) 8 Lung NSC(201;0.00774) BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648) TGGCAGCCATCAGTCTGGGAG 0.443000 148 11 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43269689 43269689 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:43269689C>T uc002ouo.2 - 0 143 c.45G>A c.(43-45)tgG>tgA p.W15* PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Nonsense_Mutation_p.W15*|PSG8_uc010ein.3_Nonsense_Mutation_p.W15*|PSG3_uc002oun.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA. 15 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GGAGCCCCTTCCAGGTGATGC 0.587000 70 6 0 0 1 0 0 HSPA1L 3305 broad.mit.edu 37 6 31778920 31778920 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31778920G>A uc003nxh.3 - 1 1013 c.830C>T c.(829-831)tCg>tTg p.S277L HSPA1L_uc010jte.3_Missense_Mutation_p.S277L|HSPA1L_uc021yuz.1_Missense_Mutation_p.S277L NM_005527 NP_005518 P34931 HS71L_HUMAN Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA. 277 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GGTGCTGGACGACAGGGTCCT 0.527000 402 79 0 0 1 0 0 PAX9 5083 broad.mit.edu 37 14 37145462 37145462 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:37145462C>T uc001wty.4 + 4 1557 c.831C>T c.(829-831)taC>taT p.Y277Y PAX9_uc010amq.3_Non-coding_Transcript NM_006194 NP_006185 P55771 PAX9_HUMAN Homo sapiens paired box 9 (PAX9), mRNA. 277 multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3) 12 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) TGGCTCCTTACCCTACCCCAG 0.502000 74 5 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7063691 7063691 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:7063691G>A uc001mfb.1 + 3 757 c.434G>A c.(433-435)gGa>gAa p.G145E NM_176822 NP_789792 Q86W24 NAL14_HUMAN Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA. 145 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TCTTTGGCTGGAAAGCCTGAA 0.393000 32 4 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109684049 109684049 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:109684049C>T uc001tob.3 + 38 5486 c.5367C>T c.(5365-5367)atC>atT p.I1789I ACACB_uc001toc.3_Silent_p.I1789I|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.I455I NM_001093 NP_001084 O00763 ACACB_HUMAN Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA. 1789 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation Golgi apparatus|cytosol|endomembrane system|membrane ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GGGATGTGATCGTCATCGGCA 0.552000 92 9 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48138108 48138108 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:48138108G>A uc002efc.1 - 19 3191 c.2845C>T c.(2845-2847)Cct>Tct p.P949S ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Intron|ABCC12_uc002efd.1_Non-coding_Transcript NM_033226 NP_150229 Q96J65 MRP9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA. 949 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) AGGACAGCAGGAAACACAGCA 0.478000 39 6 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30745866 30745866 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:30745866C>T uc002dze.1 + 30 7044 c.6659C>T c.(6658-6660)tCa>tTa p.S2220L SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.S2015L NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 2220 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CCTTCTAGCTCATCCGTGCCC 0.498000 134 13 0 0 1 0 0 GLCCI1 113263 broad.mit.edu 37 7 8125883 8125883 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:8125883C>T uc003srk.3 + 7 1918 c.1359C>T c.(1357-1359)ttC>ttT p.F453F NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA. 453 endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) AGGTTAATTTCATCCCAACCG 0.433000 135 8 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3969754 3969754 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:3969754G>A uc002fxe.3 - 27 4300 c.4236C>T c.(4234-4236)aaC>aaT p.N1412N ZZEF1_uc002fxi.3_5'Flank|ZZEF1_uc002fxj.1_Silent_p.N25N NM_015113 NP_055928 O43149 ZZEF1_HUMAN Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA. 1412 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GGCTCTCAGGGTTCACCTCAG 0.463000 147 7 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654184 46654184 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:46654184C>T uc003bhh.3 - 0 5036 c.5036G>A c.(5035-5037)cGa>cAa p.R1679Q NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA. 1679 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GCCTCGGATTCGGACGATCTG 0.423000 59 8 0 0 1 0 0 SLC6A9 6536 broad.mit.edu 37 1 44467119 44467119 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:44467119G>A uc001cll.3 - 8 1554 c.1362C>T c.(1360-1362)tcC>tcT p.S454S SLC6A9_uc009vxe.2_Silent_p.S310S|SLC6A9_uc010okm.1_Silent_p.S381S|SLC6A9_uc001clm.3_Silent_p.S400S|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.S385S|SLC6A9_uc010oko.2_Silent_p.S270S|SLC6A9_uc001cln.3_Silent_p.S381S|SLC6A9_uc010okp.1_Non-coding_Transcript NM_201649 NP_964012 P48067 SC6A9_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA. 454 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) ACCACAGCGGGGAGATGGGAA 0.637000 49 14 0 0 1 0 0 LCE5A 254910 broad.mit.edu 37 1 152484171 152484171 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152484171C>T uc021oyx.1 + 0 161 c.161C>T c.(160-162)tCc>tTc p.S54F LCE5A_uc001ezy.3_Missense_Mutation_p.S54F|CRCT1_uc001ezz.3_5'Flank NM_178438 NP_848525 Q5TCM9 LCE5A_HUMAN Homo sapiens late cornified envelope 5A (LCE5A), mRNA. 54 Cys-rich. keratinization lung(3)|ovary(1)|prostate(3) 7 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGCTGTGGTTCCAGCTCTGGG 0.642000 58 5 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153693442 153693442 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:153693442C>T uc004flm.3 + 10 2298 c.2125C>T c.(2125-2127)Cta>Tta p.L709L NM_017514 NP_059984 P51805 PLXA3_HUMAN Homo sapiens plexin A3 (PLXNA3), mRNA. 709 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGCTAAGAACCTACCTCAGCC 0.647000 19 3 0 0 1 0 0 ACHE 43 broad.mit.edu 37 7 100490067 100490067 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:100490067C>T uc003uxd.3 - 1 1597 c.1441G>A c.(1441-1443)Gag>Aag p.E481K UFSP1_uc003uxc.4_5'Flank|ACHE_uc003uxe.3_Missense_Mutation_p.E481K|ACHE_uc003uxf.3_Missense_Mutation_p.E481K|ACHE_uc003uxg.3_Missense_Mutation_p.E481K|ACHE_uc003uxh.3_Missense_Mutation_p.E393K|ACHE_uc003uxi.3_Missense_Mutation_p.E481K NM_000665 NP_000656 P22303 ACES_HUMAN Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA. 481 DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity large_intestine(3)|lung(7)|skin(3)|urinary_tract(3) 16 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) AACTCGATCTCGTAGCCGTGG 0.612000 51 8 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140864861 140864861 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140864861G>A uc003lky.2 + 0 121 c.121G>A c.(121-123)Gaa>Aaa p.E41K PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc011dbb.2_Missense_Mutation_p.E41K NM_018928 NP_061751 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily C, 4 (PCDHGC4), transcript variant 1, mRNA. 41 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGTCACAGGAAGGGACTTT 0.547000 58 12 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43552266 43552266 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:43552266G>A uc001zrd.2 - 2 428 c.420C>T c.(418-420)ttC>ttT p.F140F TGM5_uc001zre.2_Intron NM_201631 NP_963925 O43548 TGM5_HUMAN Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA. 140 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) ACCAGGGATTGAAAAGCAGGA 0.602000 49 4 0 0 1 0 0 MRPL45 84311 broad.mit.edu 37 17 36478149 36478149 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:36478149C>T uc002hpy.3 + 6 962 c.801C>T c.(799-801)ccC>ccT p.P267P NM_032351 NP_115727 Q9BRJ2 RM45_HUMAN Homo sapiens mitochondrial ribosomal protein L45 (MRPL45), nuclear gene encoding mitochondrial protein, mRNA. 267 intracellular protein transport|translation mitochondrial inner membrane presequence translocase complex|ribosome P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 13 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) AGATCGTTCCCCCATGGGCAC 0.512000 OREG0024353 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 5 0 0 1 0 0 CHST15 51363 broad.mit.edu 37 10 125804332 125804332 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:125804332G>A uc001lhn.3 - 2 1384 c.650C>T c.(649-651)tCc>tTc p.S217F CHST15_uc001lhm.3_Missense_Mutation_p.S217F|CHST15_uc010que.2_Missense_Mutation_p.S217F|CHST15_uc001lho.3_Missense_Mutation_p.S217F NM_015892 NP_056976 Q7LFX5 CHSTF_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA. 217 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 GAGCACGTAGGAGTTGGTGAG 0.602000 35 7 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121643849 121643849 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:121643849C>T uc003eep.2 + 12 1246 c.1093C>T c.(1093-1095)Cgt>Tgt p.R365C SLC15A2_uc011bjn.1_Missense_Mutation_p.R334C NM_021082 NP_066568 Q16348 S15A2_HUMAN Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA. 365 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) TGTCATTTATCGTCTGGTCTC 0.368000 81 14 0 0 1 0 0 YBX2 51087 broad.mit.edu 37 17 7193638 7193638 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:7193638G>A uc002gfq.2 - 4 733 c.676C>T c.(676-678)Cca>Tca p.P226S NM_015982 NP_057066 Q9Y2T7 YBOX2_HUMAN Homo sapiens Y box binding protein 2 (YBX2), mRNA. 226 Pro-rich.|Required for mRNA-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12 AAGAAGGGTGGGGGGCACCAT 0.652000 156 16 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200969712 200969712 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:200969712G>A uc001gvs.2 - 10 1808 c.1491C>T c.(1489-1491)gcC>gcT p.A497A KIF21B_uc009wzl.2_Silent_p.A497A|KIF21B_uc001gvr.2_Silent_p.A497A|KIF21B_uc010ppn.2_Silent_p.A497A NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 497 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 ACTCGTTCATGGCTTCACTCT 0.682000 57 8 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173470236 173470236 + Splice_Site SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:173470236A>G uc001giz.2 - 28 3795 c.3372_splice c.e28-1 p.S1124_splice SLC9C2_uc009wwe.2_Splice_Site_p.S682_splice NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 1124 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity CCAGTTTTCAACTATAAAAGA 0.299000 14 4 0 0 1 0 0 BLVRA 644 broad.mit.edu 37 7 43827616 43827616 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:43827616C>T uc010kxv.3 + 3 303 c.126C>T c.(124-126)ttC>ttT p.F42F BLVRA_uc003tir.3_Silent_p.F42F NM_001253823 NP_001240752 P53004 BIEA_HUMAN Homo sapiens biliverdin reductase A (BLVRA), transcript variant 2, mRNA. 42 heme catabolic process cytosol biliverdin reductase activity|zinc ion binding p.G41G(1) endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2) 12 NADH(DB00157) TGATTGGCTTCGTGTCGAGGT 0.562000 96 28 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71743079 71743079 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:71743079G>A uc003kce.1 - 3 1876 c.1690C>T c.(1690-1692)Cat>Tat p.H564Y NM_152625 NP_689838 Q8N895 ZN366_HUMAN Homo sapiens zinc finger protein 366 (ZNF366), mRNA. 564 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) CCTTGGGAATGAAGGCCCCGC 0.502000 51 5 0 0 1 0 0 ABP1 26 broad.mit.edu 37 7 150554093 150554093 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:150554093G>A uc003why.1 + 2 4753 c.535G>A c.(535-537)Gac>Aac p.D179N ABP1_uc003whz.1_Missense_Mutation_p.D179N|ABP1_uc003wia.1_Missense_Mutation_p.D179N NM_001091 NP_001082 P19801 ABP1_HUMAN Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA. 179 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) AGACTGCCATGACAGATGCCT 0.567000 56 6 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072850 17072850 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:17072850G>A uc002zlp.1 - 0 851 c.591C>T c.(589-591)agC>agT p.S197S NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA. 197 cellular protein metabolic process cytoplasm ATP binding|anion channel activity|calcium-activated potassium channel activity p.S197G(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CAGGCTTGAAGCTGCCGTCTA 0.617000 81 19 0 0 1 0 0 PM20D2 135293 broad.mit.edu 37 6 89868145 89868145 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:89868145C>T uc003pmz.3 + 4 1109 c.1014C>T c.(1012-1014)ttC>ttT p.F338F NM_001010853 NP_001010853 Q8IYS1 P20D2_HUMAN Homo sapiens peptidase M20 domain containing 2 (PM20D2), mRNA. 338 hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1) 12 all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00813) GAATAGAGTTCATTTCAGAAG 0.333000 42 6 0 0 1 0 0 SYTL1 84958 broad.mit.edu 37 1 27676943 27676943 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:27676943G>A uc001bnw.2 + 9 1169 c.972G>A c.(970-972)cgG>cgA p.R324R SYTL1_uc001bnv.2_Silent_p.R312R|SYTL1_uc001bnx.2_3'UTR|SYTL1_uc009vsv.2_Silent_p.R324R NM_001193308 NP_001180237 Q8IYJ3 SYTL1_HUMAN Homo sapiens synaptotagmin-like 1 (SYTL1), transcript variant 1, mRNA. 324 C2 1. exocytosis|intracellular protein transport extrinsic to plasma membrane|melanosome|soluble fraction Rab GTPase binding|neurexin binding NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 12 Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TGAAGAAACGGAATCTGAATC 0.597000 52 12 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994842 140994842 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:140994842G>A uc004fbt.3 + 3 1976 c.1652G>A c.(1651-1653)aGc>aAc p.S551N MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S210N NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 551 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTTCCTCAGAGCCCTCCTCAG 0.562000 HNSCC(15;0.026) 99 44 0 0 1 0 0 RNF148 378925 broad.mit.edu 37 7 122342352 122342352 + Silent SNP G C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:122342352G>C uc003vkk.1 - 0 670 c.453C>G c.(451-453)gtC>gtG p.V151V CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron NM_198085 NP_932351 Q8N7C7 RN148_HUMAN Homo sapiens ring finger protein 148 (RNF148), mRNA. 151 PA. integral to membrane zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|lung(7) 16 TCATCACCGCGACTATATTTT 0.463000 44 6 0 0 1 0 0 PDIA3 2923 broad.mit.edu 37 15 44048887 44048887 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:44048887G>A uc001zsu.3 + 2 435 c.287G>A c.(286-288)gGa>gAa p.G96E PDIA3_uc010bdp.3_Missense_Mutation_p.G76E|PDIA3_uc010ued.2_5'UTR NM_005313 NP_005304 P30101 PDIA3_HUMAN Homo sapiens protein disulfide isomerase family A, member 3 (PDIA3), mRNA. 96 Thioredoxin 1. cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein import into nucleus|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1) 17 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) AATAAATATGGAGTCAGTGGA 0.393000 62 6 0 0 1 0 0 MX1 4599 broad.mit.edu 37 21 42811672 42811673 + Missense_Mutation DNP CC TT TT rs143467494 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:42811672_42811673CC>TT uc010goq.3 + 5 834_835 c.488_489CC>TT c.(487-489)acc>aTT p.T163I MX1_uc002yzh.3_Missense_Mutation_p.T163I|MX1_uc002yzi.3_Missense_Mutation_p.T163I NM_001178046 NP_002453 P20591 MX1_HUMAN Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA. 163 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) GAGCTAATCACCCTGGAGATCA 0.500000 87 5 0 0 1 0 0 XYLB 9942 broad.mit.edu 37 3 38442461 38442461 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:38442461C>T uc003cic.2 + 17 1627 c.1518C>T c.(1516-1518)agC>agT p.S506S XYLB_uc011ayp.1_Silent_p.S369S|XYLB_uc003cid.1_Silent_p.S428S NM_005108 NP_005099 O75191 XYLB_HUMAN Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA. 506 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) CTACCCCAAGCCCGGGAGCTT 0.493000 65 5 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756380 94756380 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:94756380C>T uc001yct.3 - 1 1017 c.551G>A c.(550-552)aGg>aAg p.R184K SERPINA10_uc001ycu.4_Missense_Mutation_p.R184K NM_016186 NP_057270 Q9UK55 ZPI_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA. 184 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) ATCAAAATACCTCTTGGATAA 0.443000 63 15 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 169099128 169099128 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:169099128G>A uc011bpj.1 - 1 625 c.222C>T c.(220-222)atC>atT p.I74I MECOM_uc003ffl.2_Silent_p.I46I|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Silent_p.I74I|MECOM_uc011bpl.1_Silent_p.I74I NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 74 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CAGGAATGGGGATATCATCAG 0.473000 13 4 0 0 1 0 0 ONECUT1 3175 broad.mit.edu 37 15 53081290 53081290 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:53081290G>A uc002aci.1 - 0 920 c.792C>T c.(790-792)ctC>ctT p.L264L NM_004498 NP_004489 Q9UBC0 HNF6_HUMAN Homo sapiens one cut homeobox 1 (ONECUT1), mRNA. 264 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 17 all cancers(107;0.0708) CTGTGCCCAGGAGTTGCCCGT 0.647000 151 7 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169792924 169792924 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:169792924C>T uc002ueo.1 - 21 2756 c.2630G>A c.(2629-2631)gGg>gAg p.G877E ABCB11_uc010zda.1_Missense_Mutation_p.G319E|ABCB11_uc010zdb.1_Missense_Mutation_p.G353E NM_003742 NP_003733 O95342 ABCBB_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA. 877 ABC transmembrane type-1 2. bile acid biosynthetic process Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism p.I876I(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) GACTATCATCCCGATCTGAGA 0.478000 25 3 0 0 1 0 0 LRRC45 201255 broad.mit.edu 37 17 79984867 79984867 + Silent SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:79984867C>A uc002kde.3 + 5 994 c.754C>A c.(754-756)Cgg>Agg p.R252R NM_144999 NP_659436 Q96CN5 LRC45_HUMAN Homo sapiens leucine rich repeat containing 45 (LRRC45), mRNA. 252 centrosome lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CCAGCACCTCCGGGAGGAGAA 0.637000 18 3 1 1 1 1 0 ADH1A 124 broad.mit.edu 37 4 100208036 100208036 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:100208036A>G uc003hur.2 - 2 344 c.230T>C c.(229-231)gTt>gCt p.V77A LOC100507053_uc003hum.2_Non-coding_Transcript|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Missense_Mutation_p.V77A NM_000667 NP_000658 P07327 ADH1A_HUMAN Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA. 77 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) CCCTTCTCCAACACTCTCCAC 0.502000 97 23 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 33990641 33990641 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:33990641G>A uc001bxm.1 - 65 10414 c.10237C>T c.(10237-10239)Cct>Tct p.P3413S CSMD2_uc001bxn.1_Missense_Mutation_p.P3269S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 3269 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACATCCCCAGGAACTAGAGGA 0.507000 117 37 0 0 1 0 0 KIAA0408 9729 broad.mit.edu 37 6 127767979 127767979 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:127767979C>T uc011ebs.2 - 4 1821 c.1485G>A c.(1483-1485)tgG>tgA p.W495* KIAA0408_uc003qbc.3_Nonsense_Mutation_p.W495*|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_Intron|KIAA0408_uc003qbb.3_Nonsense_Mutation_p.W378* NM_014702 NP_055517 Q6ZU52 K0408_HUMAN Homo sapiens KIAA0408 (KIAA0408), mRNA. 495 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) CATTGGTTTTCCAAATACCGG 0.463000 7 4 0 0 1 0 0 ORM1 5004 broad.mit.edu 37 9 117087345 117087345 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:117087345G>A uc004bik.4 + 4 564 c.453G>A c.(451-453)acG>acA p.T151T ORM1_uc011lxo.2_Intron NM_000607 NP_000598 P02763 A1AG1_HUMAN Homo sapiens orosomucoid 1 (ORM1), mRNA. 151 acute-phase response|regulation of immune system process|transport extracellular space protein binding endometrium(2)|large_intestine(4)|lung(2) 8 Myeloproliferative disorder(63;0.163) Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706) AGCCAGAGACGACCAAGGAGC 0.607000 47 15 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 19997210 19997210 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:19997210C>T uc001umd.3 - 20 1772 c.1561G>A c.(1561-1563)Gag>Aag p.E521K TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.E410K|TPTE2_uc001ume.3_Missense_Mutation_p.E444K|TPTE2_uc009zzm.3_Missense_Mutation_p.E192K|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.E192K NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 521 C2 tensin-type. E -> K (in Ref. 1; CAD13144 and 2; AAP45146). endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) AGTCATTTCTCGCCAAAAAGT 0.408000 25 4 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881353 228881353 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:228881353G>A uc002vpq.2 - 6 4264 c.4217C>T c.(4216-4218)tCc>tTc p.S1406F SPHKAP_uc002vpp.2_Missense_Mutation_p.S1406F|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1406F NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 1406 cytoplasm protein binding p.S1406F(2)|p.T1405N(1) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTGGCACGAGGAAGTTTCTTT 0.438000 83 4 0 0 1 0 0 KCNS3 3790 broad.mit.edu 37 2 18113311 18113311 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:18113311G>A uc021veh.1 + 0 1036 c.1036G>A c.(1036-1038)Gag>Aag p.E346K KCNS3_uc002rcv.3_Missense_Mutation_p.E346K|KCNS3_uc002rcw.3_Missense_Mutation_p.E346K NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA. 346 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTACTCCGTGGAGAAAGATGA 0.537000 73 17 0 0 1 0 0 ZNF395 55893 broad.mit.edu 37 8 28209046 28209046 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:28209046G>A uc003xgq.3 - 6 1287 c.1199C>T c.(1198-1200)tCc>tTc p.S400F ZNF395_uc003xgt.3_Missense_Mutation_p.S400F|ZNF395_uc003xgr.3_Missense_Mutation_p.S400F|ZNF395_uc003xgs.3_Missense_Mutation_p.S400F NM_018660 NP_061130 Q9H8N7 ZN395_HUMAN Homo sapiens zinc finger protein 395 (ZNF395), mRNA. 400 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GTGCCAGAAGGACCCAGGAGC 0.612000 107 15 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51792133 51792133 + Silent SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:51792133A>T uc010ufy.2 - 17 3513 c.3288T>A c.(3286-3288)gtT>gtA p.V1096V DMXL2_uc002abf.3_Silent_p.V1096V|DMXL2_uc010bfa.3_Intron NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 1096 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) ATTCTTTAGAAACAAAACCAT 0.393000 11 4 0 0 1 0 0 LAD1 3898 broad.mit.edu 37 1 201355998 201355998 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:201355998C>T uc001gwm.3 - 2 726 c.491G>A c.(490-492)aGg>aAg p.R164K LAD1_uc009wzu.1_Missense_Mutation_p.R186K NM_005558 NP_005549 O00515 LAD1_HUMAN Homo sapiens ladinin 1 (LAD1), mRNA. 164 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 TTCTGGCTCCCTGCCCACCAA 0.597000 102 10 0 0 1 0 0 CALN1 83698 broad.mit.edu 37 7 71275385 71275385 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:71275385G>A uc003twb.4 - 5 985 c.594C>T c.(592-594)atC>atT p.I198I CALN1_uc003twa.4_Silent_p.I156I|CALN1_uc003twc.4_Silent_p.I156I NM_031468 NP_001017440 Q9BXU9 CABP8_HUMAN Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA. 156 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding p.I156I(1)|p.I198I(1) biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) CATTGATAATGATGTTCTCAA 0.507000 106 12 0 0 1 0 0 RFPL3 10738 broad.mit.edu 37 22 32756380 32756380 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:32756380C>T uc003amj.3 + 1 720 c.515C>T c.(514-516)tCc>tTc p.S172F RFPL3_uc010gwn.3_Missense_Mutation_p.S143F|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript NM_001098535 NP_006595 O75679 RFPL3_HUMAN Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA. 172 B30.2/SPRY. zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 ATCCTGGGCTCCCCTCGCTTT 0.567000 84 7 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86283740 86283740 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:86283740G>A uc001dlj.3 - 45 3895 c.3820C>T c.(3820-3822)Cct>Tct p.P1274S COL24A1_uc001dli.3_Missense_Mutation_p.P410S|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.P574S|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript NM_152890 NP_690850 Q17RW2 COOA1_HUMAN Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA. 1274 Collagen-like 14. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TTCCCAGAAGGACCAGGAGCT 0.408000 103 11 0 0 1 0 0 FOXM1 2305 broad.mit.edu 37 12 2983289 2983289 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:2983289G>A uc001qlf.3 - 1 639 c.356C>T c.(355-357)cCa>cTa p.P119L FOXM1_uc001qle.3_Missense_Mutation_p.P119L|FOXM1_uc009zea.3_Missense_Mutation_p.P119L|FOXM1_uc009zeb.3_Missense_Mutation_p.P119L|FOXM1_uc001qlg.3_Missense_Mutation_p.P119L NM_021953 NP_068772 Q08050 FOXM1_HUMAN Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA. 119 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) CCGGAGTCCTGGAGGCTGAGT 0.537000 123 7 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31600050 31600050 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31600050C>T uc003nvb.4 + 15 3849 c.3600C>T c.(3598-3600)ggC>ggT p.G1200G PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Silent_p.G1200G NM_080686 NP_542417 P48634 PRC2A_HUMAN Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA. 1200 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CTCCCACAGGCCCTTTGCCAC 0.627000 23 5 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156135819 156135819 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:156135819G>A uc003ioq.3 + 1 1217 c.728G>A c.(727-729)tGg>tAg p.W243* NPY2R_uc003ior.3_Nonsense_Mutation_p.W243*|NPY2R_uc021xtm.1_Nonsense_Mutation_p.W243* NM_000910 NP_000901 P49146 NPY2R_HUMAN Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA. 243 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) ACTCGCATTTGGAGTAAATTG 0.443000 45 4 0 0 1 0 0 DDX5 1655 broad.mit.edu 37 17 62496727 62496727 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:62496727G>A uc010deh.2 - 11 1424 c.1381C>T c.(1381-1383)Cgt>Tgt p.R461C DDX5_uc002jek.2_Missense_Mutation_p.R461C|DDX5_uc002jej.2_Missense_Mutation_p.R356C|DDX5_uc010wqa.1_Missense_Mutation_p.R382C NM_004396 NP_004387 P17844 DDX5_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA. 461 Helicase C-terminal. cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) TTAGCTTCACGAAGCACAGAG 0.423000 T ETV4 prostate 26 5 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22028661 22028661 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:22028661C>T uc001rfh.3 - 15 2040 c.2020_splice c.e15-1 p.V674_splice ABCC9_uc001rfi.1_Splice_Site_p.V674_splice NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 674 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CATTTGTGACCTACAAAATAA 0.323000 31 7 0 0 1 0 0 FAM40B 57464 broad.mit.edu 37 7 129104486 129104486 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:129104486C>T uc011koy.2 + 15 1723 c.1683C>T c.(1681-1683)atC>atT p.I561I FAM40B_uc003vow.3_Silent_p.I561I|FAM40B_uc011koz.2_Silent_p.I53I NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA. 561 p.G560A(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AGCTGGGCATCGATGTGAACA 0.478000 52 10 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9091236 9091236 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9091236C>T uc002mkp.3 - 0 783 c.579G>A c.(577-579)atG>atA p.M193I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 193 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.P192L(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAAATGTTTTCATTGGAGATG 0.458000 51 12 0 0 1 0 0 PACS2 23241 broad.mit.edu 37 14 105849723 105849723 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:105849723C>T uc001yqu.3 + 15 2157 c.1653C>T c.(1651-1653)acC>acT p.T551T PACS2_uc001yqs.2_Silent_p.T472T|PACS2_uc001yqt.3_Silent_p.T547T|PACS2_uc001yqv.3_Silent_p.T551T NM_001100913 NP_001094383 Q86VP3 PACS2_HUMAN Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA. 547 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) AGCCCCCGACCCCCGTGAAGA 0.647000 56 8 0 0 1 0 0 ATP2C1 27032 broad.mit.edu 37 3 130714935 130714935 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:130714935C>T uc011bli.2 + 21 2504 c.2208C>T c.(2206-2208)ttC>ttT p.F736F ATP2C1_uc011blg.2_Silent_p.F736F|ATP2C1_uc011blh.2_Silent_p.F697F|ATP2C1_uc003enk.3_Silent_p.F686F|ATP2C1_uc003enl.3_Silent_p.F702F|ATP2C1_uc003enm.3_Silent_p.F702F|ATP2C1_uc003enn.3_Silent_p.F686F|ATP2C1_uc003eno.3_Silent_p.F702F|ATP2C1_uc003enp.3_Silent_p.F702F|ATP2C1_uc003ent.3_Silent_p.F702F|ATP2C1_uc003ens.3_Silent_p.F702F|ATP2C1_uc003enu.3_Silent_p.F380F NM_001199180 NP_001186109 P98194 AT2C1_HUMAN Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA. 702 ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) TTAAAAATTTCGTTAGATTCC 0.308000 Hailey-Hailey disease 75 14 0 0 1 0 0 EYA2 2139 broad.mit.edu 37 20 45717955 45717956 + Missense_Mutation DNP GG AA AA rs139367894 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:45717955_45717956GG>AA uc002xsm.3 + 7 1113_1114 c.739_740GG>AA c.(739-741)ggg>AAg p.G247K EYA2_uc010ghp.3_Missense_Mutation_p.G247K|EYA2_uc002xsq.3_Missense_Mutation_p.G247K NM_005244 NP_005235 O00167 EYA2_HUMAN Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA. 247 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) GGCCTCCGACGGGAAGCTCCGA 0.579000 76 10 0 0 1 0 0 ACOT2 10965 broad.mit.edu 37 14 74041646 74041646 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:74041646C>T uc001xon.4 + 2 1054 c.881C>T c.(880-882)tCc>tTc p.S294F ACOT2_uc010tuc.2_Missense_Mutation_p.S232F|ACOT2_uc001xom.3_Missense_Mutation_p.S97F NM_006821 NP_006812 P49753 ACOT2_HUMAN Homo sapiens acyl-CoA thioesterase 2 (ACOT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 294 acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process mitochondrion carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639) CTTGGAATTTCCAAAGGGGGT 0.498000 92 8 0 0 1 0 0 ABP1 26 broad.mit.edu 37 7 150554581 150554581 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:150554581C>T uc003why.1 + 2 5241 c.1023C>T c.(1021-1023)ttC>ttT p.F341F ABP1_uc003whz.1_Silent_p.F341F|ABP1_uc003wia.1_Silent_p.F341F NM_001091 NP_001082 P19801 ABP1_HUMAN Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA. 341 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) ACGTGCACTTCGGCGGAGAGC 0.632000 56 9 0 0 1 0 0 ODZ1 10178 broad.mit.edu 37 X 123775763 123775763 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:123775763C>T uc010nqy.3 - 10 2019 c.1955G>A c.(1954-1956)gGa>gAa p.G652E ODZ1_uc011muj.2_Missense_Mutation_p.G651E|ODZ1_uc004euj.3_Missense_Mutation_p.G652E NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 652 EGF-like 4. immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding p.W652*(1) NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 ACAGTTAACTCCTCCCCAGCC 0.498000 98 15 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56203590 56203590 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:56203590C>T uc002lhj.4 - 4 4043 c.3829G>A c.(3829-3831)Gat>Aat p.D1277N ALPK2_uc002lhk.1_Missense_Mutation_p.D608N NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 1277 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTTAGACTATCAGGTACAGCC 0.507000 57 6 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142641774 142641774 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:142641774G>A uc003wcb.3 - 11 1579 c.1369C>T c.(1369-1371)Ctt>Ttt p.L457F NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 457 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) ATCCAGGGAAGGTTTCTGAGG 0.587000 34 8 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47050061 47050062 + Missense_Mutation DNP CT TC TC TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:47050061_47050062CT>TC uc003cqp.3 + 51 8109_8110 c.7930_7931CT>TC c.(7930-7932)ctg>TCg p.L2644S NRADDP_uc011bas.1_5'Flank|NBEAL2_uc010hjm.2_Missense_Mutation_p.L2021S|NBEAL2_uc010hjn.2_Missense_Mutation_p.L1010S NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA. 2644 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GCGGGCTTCACTGCCCCTGGCA 0.584000 75 9 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230312225 230312225 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:230312225C>T uc002vpv.3 - 7 1440 c.1293G>A c.(1291-1293)gtG>gtA p.V431V DNER_uc010zly.1_Silent_p.V159V NM_139072 NP_620711 Q8NFT8 DNER_HUMAN Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA. 431 EGF-like 6. Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity p.V431V(2) NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) CGCAGGGGTCCACCTTTTCTT 0.488000 21 11 0 0 1 0 0 HCRTR1 3061 broad.mit.edu 37 1 32084964 32084964 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:32084964C>T uc009vtx.2 + 2 556 c.171C>T c.(169-171)ttC>ttT p.F57F HCRTR1_uc001btc.4_Missense_Mutation_p.S31L|HCRTR1_uc001btd.2_Silent_p.F57F|HCRTR1_uc010ogl.2_Silent_p.F57F NM_001525 NP_001516 O43613 OX1R_HUMAN Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA. 57 feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 7 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) TGGCTGTGTTCGTCGTGGCCC 0.587000 126 11 0 0 1 0 0 IGDCC3 9543 broad.mit.edu 37 15 65667616 65667616 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:65667616C>T uc002aos.2 - 1 480 c.228G>A c.(226-228)agG>agA p.R76R NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA. 76 Ig-like C2-type 1. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CCCCATTCTTCCTCCAGGTGA 0.602000 36 5 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 88035909 88035909 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:88035909C>T uc011ccz.2 + 11 2199 c.1924C>T c.(1924-1926)Cga>Tga p.R642* AFF1_uc003hqj.4_Nonsense_Mutation_p.R635*|AFF1_uc003hqk.4_Nonsense_Mutation_p.R635*|AFF1_uc011cda.2_Nonsense_Mutation_p.R273* NM_001166693 NP_001160165 P51825 AFF1_HUMAN Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA. 635 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) CTATGGCTCCCGAGACCAGAC 0.612000 51 5 0 0 1 0 0 OVOL1 5017 broad.mit.edu 37 11 65561597 65561597 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:65561597C>T uc001ofp.3 + 1 536 c.196C>T c.(196-198)Cga>Tga p.R66* OVOL1_uc001ofq.3_Nonsense_Mutation_p.R4* NM_004561 NP_004552 O14753 OVOL1_HUMAN Homo sapiens ovo-like 1(Drosophila) (OVOL1), mRNA. 66 transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 6 READ - Rectum adenocarcinoma(159;0.17) CATGAGCCTTCGAGACTCTAG 0.652000 124 19 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24921323 24921323 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:24921323G>A uc001ywo.3 + 0 783 c.309G>A c.(307-309)cgG>cgA p.R103R NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 103 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TGCCTGCTCGGAACCCCCCGA 0.682000 48 5 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134073098 134073098 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:134073098C>T uc003iha.3 + 0 2629 c.1803C>T c.(1801-1803)acC>acT p.T601T BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Silent_p.T601T NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA. 601 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ACCTGCTCACCCGCGTGGCCG 0.677000 42 8 0 0 1 0 0 PROCR 10544 broad.mit.edu 37 20 33764014 33764014 + Silent SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:33764014C>A uc002xbt.3 + 2 550 c.366C>A c.(364-366)ccC>ccA p.P122P EDEM2_uc010zuv.1_Intron NM_006404 NP_006395 Q9UNN8 EPCR_HUMAN Homo sapiens protein C receptor, endothelial (PROCR), mRNA. 122 antigen processing and presentation|blood coagulation|immune response MHC class I protein complex|integral to plasma membrane receptor activity breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) AGCTGCCTCCCGAGGGCTCTA 0.612000 139 5 1 1 1 1 0 ZNF425 155054 broad.mit.edu 37 7 148802413 148802413 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:148802413G>A uc003wfj.3 - 3 683 c.550C>T c.(550-552)Ccc>Tcc p.P184S NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN Homo sapiens zinc finger protein 425 (ZNF425), mRNA. 184 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.P184L(1) breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GGCCCTGTGGGAATTTCTAAG 0.478000 38 7 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94496618 94496618 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:94496618G>A uc001dqh.3 - 27 4291 c.4187C>T c.(4186-4188)cCt>cTt p.P1396L NM_000350 NP_000341 P78363 ABCA4_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA. 1396 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TTCGCCAAAAGGAGGGATAAC 0.517000 22 7 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181767784 181767784 + Silent SNP C T T rs35105143 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:181767784C>T uc009wxt.3 + 47 6951 c.6756C>T c.(6754-6756)ttC>ttT p.F2252F CACNA1E_uc001gow.3_Silent_p.F2209F|CACNA1E_uc009wxs.3_Silent_p.F2190F NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 2252 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CGCTCACTTTCGAAGCAGCCG 0.642000 8 7 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7404345 7404345 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:7404345C>T uc002ghf.4 + 11 2354 c.1968C>T c.(1966-1968)tcC>tcT p.S656S NM_000937 NP_000928 P24928 RPB1_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA. 656 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) TCCACATCTCCTACCTAGAGA 0.537000 60 6 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2321186 2321186 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:2321186C>T uc002wfx.4 + 12 2138 c.2041C>T c.(2041-2043)Cct>Tct p.P681S NM_003245 NP_003236 Q08188 TGM3_HUMAN Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA. 681 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) CAACAAGTTCCCTGCAATCAA 0.592000 56 10 0 0 1 0 0 NARS 4677 broad.mit.edu 37 18 55273957 55273957 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:55273957G>A uc002lgs.2 - 9 1256 c.1028C>T c.(1027-1029)cCt>cTt p.P343L NARS_uc010xea.1_Missense_Mutation_p.P94L NM_004539 NP_004530 O43776 SYNC_HUMAN Homo sapiens asparaginyl-tRNA synthetase (NARS), mRNA. 343 asparaginyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|asparagine-tRNA ligase activity|nucleic acid binding|protein binding p.C342C(1) breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1) 20 Colorectal(73;0.227) L-Asparagine(DB00174) AGTCAGGAAAGGACACTCAGC 0.468000 91 8 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116397718 116397718 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:116397718G>A uc003vij.3 + 7 2179 c.1992G>A c.(1990-1992)ccG>ccA p.P664P MET_uc022akk.1_Silent_p.P664P|MET_uc010lkh.3_Silent_p.P664P|MET_uc011knf.2_Silent_p.P664P|MET_uc011kne.2_Silent_p.P636P|MET_uc011kng.1_Silent_p.P664P|MET_uc011knh.1_Silent_p.P664P|MET_uc011kni.2_Silent_p.P664P|MET_uc011knj.2_Silent_p.P234P NM_000245 NP_000236 P08581 MET_HUMAN Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA. 664 IPT/TIG 2. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) GTATTTCGCCGAAATACGGTC 0.333000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 6 6 0 0 1 0 0 ZNF683 257101 broad.mit.edu 37 1 26691313 26691313 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:26691313C>T uc001bmg.1 - 3 842 c.724G>A c.(724-726)Gag>Aag p.E242K ZNF683_uc001bmh.1_Missense_Mutation_p.E242K|ZNF683_uc009vsj.1_Missense_Mutation_p.E242K NM_173574 NP_775845 Q8IZ20 ZN683_HUMAN Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA. 242 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) TGCCCCAGCTCATTGACCATC 0.637000 90 26 0 0 1 0 0 IQCA1 79781 broad.mit.edu 37 2 237308122 237308122 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:237308122C>T uc002vwb.2 - 8 1199 c.1165G>A c.(1165-1167)Gaa>Aaa p.E389K IQCA1_uc002vvz.1_Missense_Mutation_p.E382K|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.E341K NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA. 382 Lys-rich. ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 TTCCATTTTTCGTCTTCTTCC 0.458000 89 23 0 0 1 0 0 LILRA4 23547 broad.mit.edu 37 19 54848165 54848165 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:54848165G>A uc002qfj.3 - 5 1259 c.1202C>T c.(1201-1203)tCc>tTc p.S401F LILRA4_uc002qfi.3_Missense_Mutation_p.S335F NM_012276 NP_036408 P59901 LIRA4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA. 401 Ig-like C2-type 4. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) GTAGGGGTTGGAGCTGCGTGA 0.597000 80 17 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45297674 45297674 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:45297674G>A uc010olf.2 - 3 510 c.498C>T c.(496-498)ccC>ccT p.P166P PTCH2_uc021omv.1_Silent_p.P166P|PTCH2_uc010olg.2_5'UTR NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA. 166 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) TTTCAATAAGGGGAACTCCTG 0.507000 Basal Cell Nevus syndrome 124 31 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102460559 102460559 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:102460559C>T uc001yks.2 + 11 3218 c.3054C>T c.(3052-3054)ttC>ttT p.F1018F NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 1018 Stem (By similarity). G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 AAGAGAAATTCTATCGGAATG 0.433000 101 6 0 0 1 0 0 ZNRF3 84133 broad.mit.edu 37 22 29445697 29445697 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:29445697C>T uc003aeg.3 + 7 1528 c.1528C>T c.(1528-1530)Ccc>Tcc p.P510S ZNRF3_uc021wnq.1_Missense_Mutation_p.P410S NM_001206998 NP_001193927 Q9ULT6 ZNRF3_HUMAN Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA. 510 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CCTGCTCTTCCCCACCGTGGT 0.711000 29 4 0 0 1 0 0 KIF2C 11004 broad.mit.edu 37 1 45205647 45205647 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:45205647C>T uc001cmg.4 + 0 158 c.43C>T c.(43-45)Ctc>Ttc p.L15F KIF2C_uc010olb.2_Missense_Mutation_p.L15F NM_006845 NP_006836 Q99661 KIF2C_HUMAN Homo sapiens kinesin family member 2C (KIF2C), mRNA. 15 Globular (Potential). blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1) 34 Acute lymphoblastic leukemia(166;0.155) GTTTCCCGGTCTCGCTATCAA 0.562000 399 53 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71683505 71683505 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:71683505G>A uc002fax.3 - 17 3266 c.3260C>T c.(3259-3261)tCa>tTa p.S1087L PHLPP2_uc002fav.3_Intron|PHLPP2_uc010cgf.3_Missense_Mutation_p.S1020L|PHLPP2_uc021tkv.1_5'Flank NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA. 1087 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 GCTCACCTCTGAGGTGGACAT 0.577000 80 6 0 0 1 0 0 HLF 3131 broad.mit.edu 37 17 53392718 53392718 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:53392718C>T uc002iug.1 + 2 1107 c.582C>T c.(580-582)gaC>gaT p.D194D HLF_uc010dce.1_Silent_p.D109D|HLF_uc002iuh.2_Silent_p.D109D|HLF_uc010wni.1_Silent_p.D141D NM_002126 NP_002117 Q16534 HLF_HUMAN Homo sapiens hepatic leukemia factor (HLF), mRNA. 194 Pro-rich (proline/acidic region (PAR)). multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(2) 3 AAATGTTTGACCCTCGCAAAC 0.512000 T TCF3 ALL 77 17 0 0 1 0 0 MFSD6L 162387 broad.mit.edu 37 17 8700978 8700978 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:8700978C>T uc002glp.2 - 0 1690 c.1461G>A c.(1459-1461)atG>atA p.M487I NM_152599 NP_689812 Q8IWD5 MFS6L_HUMAN Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA. 487 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 GAGCCCTCTCCATGCGGGGAG 0.612000 25 4 0 0 1 0 0 SLC17A1 6568 broad.mit.edu 37 6 25813418 25813418 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:25813418G>A uc003nfh.4 - 6 756 c.640C>T c.(640-642)Ctt>Ttt p.L214F SLC17A1_uc011djy.2_Intron|SLC17A1_uc010jqb.1_Missense_Mutation_p.L214F|SLC17A1_uc010jqc.1_Missense_Mutation_p.L212F NM_005074 NP_005065 Q14916 NPT1_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA. 214 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 AACCAGAGAAGACATACGGCA 0.443000 31 6 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153912185 153912185 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:153912185G>A uc001fdd.1 - 11 2100 c.1699C>T c.(1699-1701)Caa>Taa p.Q567* NM_014856 NP_055671 O75064 DEN4B_HUMAN Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA. 567 dDENN. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AAGGCTCCTTGGACTTCGCGC 0.632000 102 11 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1653263 1653263 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:1653263G>A uc002qxa.3 - 16 2353 c.2289C>T c.(2287-2289)ttC>ttT p.F763F NM_012293 NP_036425 Q92626 PXDN_HUMAN Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA. 763 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GCAGGCGCTCGAAGGCGGTCA 0.632000 124 15 0 0 1 0 0 JAM2 58494 broad.mit.edu 37 21 27066148 27066148 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:27066148C>T uc002ylp.1 + 3 867 c.322C>T c.(322-324)Cgt>Tgt p.R108C JAM2_uc011ace.1_Missense_Mutation_p.R108C|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Missense_Mutation_p.R72C NM_021219 NP_067042 P57087 JAM2_HUMAN Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA. 108 Ig-like V-type. blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction p.R108H(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1) 19 GGGGAAATATCGTTGTGAAGT 0.403000 67 4 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54080049 54080049 + Missense_Mutation SNP C T T rs143490707 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:54080049C>T uc002qbx.1 + 6 1669 c.235C>T c.(235-237)Ctt>Ttt p.L79F ZNF331_uc002qby.1_Missense_Mutation_p.L79F|ZNF331_uc002qbz.1_Missense_Mutation_p.L79F|ZNF331_uc010eqr.1_Missense_Mutation_p.L79F|ZNF331_uc002qca.1_Missense_Mutation_p.L79F|ZNF331_uc021uzg.1_Missense_Mutation_p.L79F|ZNF331_uc021uzh.1_Missense_Mutation_p.L79F|ZNF331_uc002qcb.1_Missense_Mutation_p.L79F|ZNF331_uc002qcc.1_Missense_Mutation_p.L79F|ZNF331_uc002qcd.1_Missense_Mutation_p.L79F NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA. 79 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L79F(2)|p.S78S(1) NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) AAGTAAATCCCTTGGCCGTAA 0.393000 T ? follicular thyroid adenoma 43 5 0 0 1 0 0 MLLT11 10962 broad.mit.edu 37 1 151039782 151039782 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:151039782G>A uc021oyj.1 + 0 82 c.82G>A c.(82-84)Gaa>Aaa p.E28K MLLT11_uc001ewq.3_Missense_Mutation_p.E28K NM_006818 NP_006809 Q13015 AF1Q_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11 (MLLT11), mRNA. 28 positive regulation of apoptosis|positive regulation of mitochondrial depolarization|positive regulation of release of cytochrome c from mitochondria|positive regulation of transcription, DNA-dependent upper_aerodigestive_tract(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GTCGGAGCTGGAAGGCCTGGG 0.522000 76 6 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7680638 7680638 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:7680638G>A uc002cys.2 + 10 1698 c.710G>A c.(709-711)gGa>gAa p.G237E RBFOX1_uc010buf.1_Missense_Mutation_p.G237E|RBFOX1_uc002cyr.1_Missense_Mutation_p.G236E|RBFOX1_uc002cyt.2_Intron|RBFOX1_uc010uxz.1_Missense_Mutation_p.G280E|RBFOX1_uc010uya.1_Missense_Mutation_p.G194E|RBFOX1_uc002cyv.1_Missense_Mutation_p.G237E|RBFOX1_uc010uyb.1_Missense_Mutation_p.G237E|RBFOX1_uc002cyw.2_Missense_Mutation_p.G257E|RBFOX1_uc002cyy.2_Missense_Mutation_p.G257E|RBFOX1_uc002cyx.2_Missense_Mutation_p.G257E|RBFOX1_uc010uyc.1_Intron NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA. 237 RNA splicing|RNA transport|mRNA processing nucleus|trans-Golgi network RNA binding|nucleotide binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 AACCAGGAGGGATCTTCCATG 0.488000 35 4 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13721223 13721223 + Silent SNP G A A rs138781046 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:13721223G>A uc003jfd.2 - 70 12207 c.12165C>T c.(12163-12165)ccC>ccT p.P4055P DNAH5_uc003jfc.2_Silent_p.P223P NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4055 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGGAATCTGTGGGGTCTGAGC 0.498000 Kartagener syndrome 44 11 0 0 1 0 0 ZG16B 124220 broad.mit.edu 37 16 2882008 2882008 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:2882008C>T uc002cru.3 + 3 551 c.475C>T c.(475-477)Caa>Taa p.Q159* NM_145252 NP_660295 Q96DA0 ZG16B_HUMAN Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA. 159 extracellular region sugar binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 CTACCCCAGCCAAGAGGGGCA 0.527000 73 10 0 0 1 0 0 STAT5B 6777 broad.mit.edu 37 17 40359636 40359636 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:40359636G>A uc002hzh.3 - 15 2186 c.2017C>T c.(2017-2019)Cgg>Tgg p.R673W NM_012448 NP_036580 P51692 STA5B_HUMAN Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA. 673 SH2. 2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity p.R673R(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) TCTTTTGGCCGATCAGGAAAC 0.448000 75 6 0 0 1 0 0 SENP1 29843 broad.mit.edu 37 12 48458892 48458892 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:48458892G>A uc001rqx.3 - 11 1677 c.1231C>T c.(1231-1233)Cat>Tat p.H411Y SENP1_uc001rqw.3_Missense_Mutation_p.H411Y|SENP1_uc001rqy.3_Missense_Mutation_p.H212Y|SENP1_uc001rqz.3_Missense_Mutation_p.H212Y|SENP1_uc009zkx.3_Missense_Mutation_p.H411Y NM_014554 NP_055369 Q9P0U3 SENP1_HUMAN Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA. 411 activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus SUMO-specific protease activity|endopeptidase activity p.G410fs*3(1) large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) GTTAATTTATGACCTTTTTTT 0.338000 6 3 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10216581 10216581 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:10216581C>T uc002gmk.1 - 29 4165 c.4075G>A c.(4075-4077)Gcc>Acc p.A1359T NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 1359 muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TGCAGCTCGGCCTTGGCTTCC 0.627000 108 17 0 0 1 0 0 TRAF1 7185 broad.mit.edu 37 9 123676511 123676511 + Splice_Site SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:123676511A>G uc004bku.2 - 4 866 c.294_splice c.e4+1 p.K98_splice TRAF1_uc011lyg.2_Splice_Site|TRAF1_uc010mvl.2_Splice_Site_p.K98_splice NM_005658 NP_001177876 Q13077 TRAF1_HUMAN Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA. 98 apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction cytoplasm protein binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2) 22 TCAGATGCTTACCTTGAAGGA 0.512000 30 5 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91090780 91090780 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:91090780C>T uc004efk.2 + 0 1122 c.277C>T c.(277-279)Cgt>Tgt p.R93C PCDH11X_uc004efl.2_Missense_Mutation_p.R93C|PCDH11X_uc010nmv.2_Missense_Mutation_p.R93C|PCDH11X_uc004efm.2_Missense_Mutation_p.R93C|PCDH11X_uc004efn.2_Missense_Mutation_p.R93C|PCDH11X_uc004efo.2_Missense_Mutation_p.R93C|PCDH11X_uc004efh.2_Missense_Mutation_p.R93C|PCDH11X_uc004efj.1_Missense_Mutation_p.R93C NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA. 93 Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TCGCATTGATCGTGAGAAATT 0.443000 45 6 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140802648 140802648 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140802648C>T uc003lkq.2 + 0 2112 c.1854C>T c.(1852-1854)ttC>ttT p.F618F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Silent_p.F618F|PCDHGC5_uc003lkp.2_Silent_p.F618F NM_018914 NP_061737 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA. 619 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGGACTCTTCGCGGTGGGGG 0.662000 55 7 0 0 1 0 0 TMEM184C 55751 broad.mit.edu 37 4 148555359 148555359 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:148555359C>T uc003ila.4 + 9 1660 c.1091C>T c.(1090-1092)cCc>cTc p.P364L NM_018241 NP_060711 Q9NVA4 T184C_HUMAN Homo sapiens transmembrane protein 184C (TMEM184C), mRNA. 364 integral to membrane p.F363C(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1) 16 AAATTGTTTCCCGAGGATCAA 0.358000 16 3 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126238432 126238432 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:126238432T>C uc003ifj.4 + 0 866 c.866T>C c.(865-867)cTg>cCg p.L289P NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 289 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CGCTATCGCCTGCAGGACGAG 0.677000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 7 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64678708 64678708 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:64678708G>A uc001obx.3 - 9 1383 c.1268C>T c.(1267-1269)cCt>cTt p.P423L NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA. 423 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 CAGCGAGTCAGGGCGCATGGT 0.627000 83 11 0 0 1 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72462173 72462173 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:72462173G>A uc001jrg.3 + 2 628 c.628G>A c.(628-630)Gag>Aag p.E210K ADAMTS14_uc001jrh.3_Missense_Mutation_p.E210K NM_139155 NP_631894 Q8WXS8 ATS14_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA. 210 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 GTACCGCCGGGAGGCCGTCCA 0.627000 66 5 0 0 1 0 0 CELF3 11189 broad.mit.edu 37 1 151688415 151688415 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:151688415C>T uc001eys.2 - 0 876 c.82G>A c.(82-84)Gaa>Aaa p.E28K CELF3_uc021oyt.1_5'UTR|CELF3_uc009wmy.3_Missense_Mutation_p.E28K|CELF3_uc001eyr.3_Missense_Mutation_p.E28K|CELF3_uc009wmx.2_Missense_Mutation_p.E28K|CELF3_uc001eyt.2_5'UTR|CELF3_uc010pdi.1_Missense_Mutation_p.E28K|RIIAD1_uc001eyu.2_Intron NM_007185 NP_009116 Q5SZQ8 CELF3_HUMAN Homo sapiens CUGBP, Elav-like family member 3 (CELF3), transcript variant 1, mRNA. 28 RRM 1. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 CCAAACTGTTCGAAGATGGGC 0.592000 49 14 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50719043 50719043 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:50719043G>A uc003bkv.4 - 24 4143 c.4050C>T c.(4048-4050)ttC>ttT p.F1350F PLXNB2_uc003bkt.1_Silent_p.F142F|PLXNB2_uc003bku.1_Silent_p.F335F NM_012401 NP_036533 O15031 PLXB2_HUMAN Homo sapiens plexin B2 (PLXNB2), mRNA. 1350 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCAGGGACGCGAAGTAGACCT 0.642000 62 8 0 0 1 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128901581 128901581 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:128901581C>T uc004eut.1 + 19 1987 c.1743C>T c.(1741-1743)taC>taT p.Y581Y NM_003399 NP_003390 O43895 XPP2_HUMAN Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA. 581 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 GCTCCCAGTACCCAGGGAGCT 0.577000 58 9 0 0 1 0 0 GPR25 2848 broad.mit.edu 37 1 200843103 200843103 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:200843103C>T uc001gvn.1 + 0 938 c.938C>T c.(937-939)tCa>tTa p.S313L NM_005298 NP_005289 O00155 GPR25_HUMAN Homo sapiens G protein-coupled receptor 25 (GPR25), mRNA. 313 integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 CTGGACCGCTCATTCCGAGCC 0.706000 51 7 0 0 1 0 0 NTN4 59277 broad.mit.edu 37 12 96180998 96180998 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:96180998G>A uc001tei.3 - 1 753 c.304C>T c.(304-306)Cct>Tct p.P102S NTN4_uc009ztf.3_Missense_Mutation_p.P102S|NTN4_uc009ztg.3_Missense_Mutation_p.P65S NM_021229 NP_067052 Q9HB63 NET4_HUMAN Homo sapiens netrin 4 (NTN4), mRNA. 102 Laminin N-terminal. axon guidance basement membrane|plasma membrane NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CATGTGCGAGGAAACCGGAAG 0.512000 28 6 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131646736 131646736 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:131646736C>T uc021qav.1 - 10 1080 c.979G>A c.(979-981)Gaa>Aaa p.E327K EBF3_uc001lki.2_Missense_Mutation_p.E341K NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN Homo sapiens early B-cell factor 3 (EBF3), mRNA. 350 IPT/TIG. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) ATGGTTGGTTCATTAAGGGCT 0.408000 103 11 0 0 1 0 0 CCNE1 898 broad.mit.edu 37 19 30313211 30313211 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:30313211C>T uc002nsn.3 + 9 1088 c.905C>T c.(904-906)tCg>tTg p.S302L CCNE1_uc002nso.3_Missense_Mutation_p.S287L NM_001238 NP_001229 P24864 CCNE1_HUMAN Homo sapiens cyclin E1 (CCNE1), mRNA. 302 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1) 20 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) CTTGCTGCTTCGGCCTTGTAT 0.443000 A serous ovarian 124 19 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 136934293 136934293 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:136934293G>A uc003qhc.3 - 16 2741 c.2380C>T c.(2380-2382)Ctc>Ttc p.L794F MAP3K5_uc011edj.2_Missense_Mutation_p.L41F|MAP3K5_uc011edk.1_Missense_Mutation_p.L639F NM_005923 NP_005914 Q99683 M3K5_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA. 794 Protein kinase. activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TTGTCATGGAGATATTTTAAT 0.368000 22 6 0 0 1 0 0 ZNF573 126231 broad.mit.edu 37 19 38231045 38231045 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:38231045C>T uc002ohe.3 - 4 415 c.346G>A c.(346-348)Gaa>Aaa p.E116K ZNF573_uc010efs.2_Missense_Mutation_p.E29K|ZNF573_uc002ohd.3_Missense_Mutation_p.E114K|ZNF573_uc002ohf.3_Missense_Mutation_p.E58K|ZNF573_uc002ohg.3_Missense_Mutation_p.E28K|ZNF573_uc021utv.1_Missense_Mutation_p.E28K NM_001172690 NP_001166161 Q86YE8 ZN573_HUMAN Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA. 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) ATATCTGTTTCATAAGTGGGT 0.313000 47 4 0 0 1 0 0 TNFRSF10C 8794 broad.mit.edu 37 8 22974328 22974328 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:22974328G>A uc003xcy.3 + 4 872 c.564G>A c.(562-564)ggG>ggA p.G188G TNFRSF10C_uc011kzr.2_Non-coding_Transcript NM_003841 NP_003832 O14798 TR10C_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA. 188 apoptosis anchored to membrane|integral to plasma membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) CCAGCCCGGGGACTCCTGCCC 0.627000 80 9 0 0 1 0 0 FAM75C1 441452 broad.mit.edu 37 9 90536445 90536445 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:90536445C>T uc010mqi.3 + 3 1652 c.1623C>T c.(1621-1623)ttC>ttT p.F541F FAM75C1_uc004apq.4_Silent_p.F524F NM_001145124 NP_001138596 Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA. TGGAAAGCTTCCCAGGGAAGG 0.537000 84 6 0 0 1 0 0 C3orf56 285311 broad.mit.edu 37 3 126915875 126915875 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:126915875G>A uc003eji.1 + 1 587 c.347G>A c.(346-348)gGa>gAa p.G116E RecName: Full=Putative uncharacterized protein C3orf56; breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) CCCCTCATAGGAAGTCCGTAT 0.587000 159 31 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20840970 20840970 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:20840970A>T uc001vxe.3 - 48 7038 c.6998T>A c.(6997-6999)tTt>tAt p.F2333Y TEP1_uc010ahj.1_Non-coding_Transcript|TEP1_uc010ahk.3_Missense_Mutation_p.F1676Y|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.F2225Y|TEP1_uc010tlh.1_Intron NM_007110 NP_009041 Q99973 TEP1_HUMAN Homo sapiens telomerase-associated protein 1 (TEP1), mRNA. 2333 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GAGGACAAAAAAGGTGTGTGC 0.507000 78 10 0 0 1 0 0 FAM188B 84182 broad.mit.edu 37 7 30951791 30951791 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:30951791C>T uc003tbv.2 + 0 377 c.267C>T c.(265-267)atC>atT p.I89I FAM188B_uc011kac.1_Silent_p.I149I NM_198098 NP_932766 Q4G0A6 F188B_HUMAN Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA. 0 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCTGCCAGATCAGCATCTTCC 0.652000 92 10 0 0 1 0 0 C5AR1 728 broad.mit.edu 37 19 47823181 47823181 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:47823181G>A uc002pgj.1 + 1 196 c.147G>A c.(145-147)ctG>ctA p.L49L NM_001736 NP_001727 P21730 C5AR_HUMAN Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA. 49 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) TCGTCTTCCTGGTGGGAGTGC 0.562000 74 6 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59821888 59821888 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:59821888C>T uc001xdz.1 + 20 2517 c.2392C>T c.(2392-2394)Cgt>Tgt p.R798C DAAM1_uc001xea.1_Missense_Mutation_p.R788C|DAAM1_uc001xec.1_Non-coding_Transcript NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA. 798 FH2. actin cytoskeleton organization cytoplasm|plasma membrane Rho GTPase binding|actin binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) TGAAGCAATTCGTTCTGGCTC 0.378000 25 8 0 0 1 0 0 F3 2152 broad.mit.edu 37 1 94998772 94998772 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:94998772C>T uc001dqr.3 - 3 686 c.465G>A c.(463-465)gtG>gtA p.V155V F3_uc001dqp.2_Non-coding_Transcript|F3_uc001dqq.2_Non-coding_Transcript|F3_uc001dqs.3_Silent_p.V155V NM_001993 NP_001984 P13726 TF_HUMAN Homo sapiens coagulation factor III (thromboplastin, tissue factor) (F3), transcript variant 1, mRNA. 155 activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade extracellular matrix|extracellular space|integral to membrane cell surface binding|phospholipid binding|protease binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7) 14 all_lung(203;0.00106)|Lung NSC(277;0.00475) all cancers(265;0.0232)|Epithelial(280;0.121) Coagulation factor VIIa(DB00036) CGGTCACATTCACTTTTGTTC 0.403000 57 4 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857944 9857944 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:9857944C>T uc010uym.2 - 13 3767 c.3457G>A c.(3457-3459)Gat>Aat p.D1153N GRIN2A_uc002czo.4_Missense_Mutation_p.D1153N|GRIN2A_uc010uyn.2_Missense_Mutation_p.D996N|GRIN2A_uc002czr.4_Missense_Mutation_p.D1153N NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1153 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.D1153N(2) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCACTGGGATCCTGGTAGGGG 0.522000 74 10 0 0 1 0 0 TEKT5 146279 broad.mit.edu 37 16 10788371 10788371 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:10788371C>T uc002czz.1 - 0 432 c.360G>A c.(358-360)atG>atA p.M120I NM_144674 NP_653275 Q96M29 TEKT5_HUMAN Homo sapiens tektin 5 (TEKT5), mRNA. 120 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 GCAAGAGCCTCATGGAGTCAT 0.657000 77 6 0 0 1 0 0 CLDN12 9069 broad.mit.edu 37 7 90042626 90042626 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:90042626C>T uc003ukp.3 + 4 1272 c.636C>T c.(634-636)tcC>tcT p.S212S CLDN12_uc003ukq.3_Silent_p.S212S|CLDN12_uc010leq.3_Silent_p.S212S|CLDN12_uc003uks.3_Silent_p.S212S|CLDN12_uc003ukr.3_Silent_p.S212S|CLDN12_uc022ahd.1_Silent_p.S212S NM_012129 NP_036261 P56749 CLD12_HUMAN Homo sapiens claudin 12 (CLDN12), transcript variant 3, mRNA. 212 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2) 15 CATTGTACTCCCATCCACCCA 0.438000 114 6 0 0 1 0 0 LRRC4 64101 broad.mit.edu 37 7 127669217 127669217 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:127669217C>T uc003vmk.3 - 1 1614 c.1477G>A c.(1477-1479)Gtg>Atg p.V493M SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Missense_Mutation_p.V493M NM_022143 NP_071426 Q9HBW1 LRRC4_HUMAN Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA. 493 Thr-rich. cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) TGAATGAGCACCGTGGTAGAG 0.567000 77 6 0 0 1 0 0 BEND5 79656 broad.mit.edu 37 1 49224837 49224837 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:49224837G>A uc001crx.4 - 2 524 c.480C>T c.(478-480)ttC>ttT p.F160F AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc010omy.1_Intron|AGBL4_uc001crv.1_Intron|BEND5_uc001crw.4_5'UTR NM_024603 NP_078879 Q7L4P6 BEND5_HUMAN Homo sapiens BEN domain containing 5 (BEND5), mRNA. 160 large_intestine(5)|lung(2)|skin(1) 8 AGGCCTCCACGAAGACCTCTT 0.617000 22 4 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595048 140595048 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140595048C>T uc003lja.1 + 0 1540 c.1353C>T c.(1351-1353)ttC>ttT p.F451F NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN Homo sapiens protocadherin beta 13 (PCDHB13), mRNA. 451 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCCGCCTTCACCCAAACCT 0.572000 90 7 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50728538 50728538 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:50728538G>A uc003bkv.4 - 2 569 c.476C>T c.(475-477)tCc>tTc p.S159F NM_012401 NP_036533 O15031 PLXB2_HUMAN Homo sapiens plexin B2 (PLXNB2), mRNA. 159 Sema. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AGGACCCGTGGAGCTCACCAG 0.622000 22 4 0 0 1 0 0 CTSC 1075 broad.mit.edu 37 11 88033707 88033707 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:88033707G>A uc001pck.4 - 4 849 c.748C>T c.(748-750)Cga>Tga p.R250* CTSC_uc001pcl.4_Nonsense_Mutation_p.R102* NM_001814 NP_001805 P53634 CATC_HUMAN Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA. 250 immune response lysosome cysteine-type endopeptidase activity p.R250*(2) large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CCTTGGTTTCGAACAGGACTG 0.373000 29 5 0 0 1 0 0 AIM2 9447 broad.mit.edu 37 1 159038487 159038487 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:159038487A>T uc001ftj.1 - 2 512 c.267T>A c.(265-267)gaT>gaA p.D89E NM_004833 NP_004824 O14862 AIM2_HUMAN Homo sapiens absent in melanoma 2 (AIM2), mRNA. 89 cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) TGTATTGCTTATCAACTGATT 0.368000 38 9 0 0 1 0 0 PHACTR3 116154 broad.mit.edu 37 20 58349515 58349515 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:58349515G>A uc002yau.3 + 6 1611 c.1144G>A c.(1144-1146)Gag>Aag p.E382K PHACTR3_uc002yat.3_Missense_Mutation_p.E379K|PHACTR3_uc010zzw.2_Missense_Mutation_p.E341K|PHACTR3_uc002yav.3_Missense_Mutation_p.E341K|PHACTR3_uc002yaw.3_Missense_Mutation_p.E341K|PHACTR3_uc002yax.3_Missense_Mutation_p.E271K NM_080672 NP_899067 Q96KR7 PHAR3_HUMAN Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA. 382 nuclear matrix actin binding|protein phosphatase inhibitor activity p.E382K(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GTATCAGGACGAGGAGGCGCT 0.498000 133 16 0 0 1 0 0 NPC1 4864 broad.mit.edu 37 18 21123466 21123466 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:21123466G>A uc002kum.4 - 13 2472 c.2198C>T c.(2197-2199)cCc>cTc p.P733L NPC1_uc010xaz.2_Missense_Mutation_p.P466L|NPC1_uc010xba.1_Missense_Mutation_p.P578L NM_000271 NP_000262 O15118 NPC1_HUMAN Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA. 733 SSD. autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) GAACATACTGGGAGCCACTTC 0.428000 77 6 0 0 1 0 0 IL20RA 53832 broad.mit.edu 37 6 137329866 137329866 + Silent SNP C T T rs147634362 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:137329866C>T uc003qhj.3 - 4 1027 c.594G>A c.(592-594)gtG>gtA p.V198V IL20RA_uc011edl.2_Silent_p.V149V|IL20RA_uc003qhk.3_Silent_p.V87V|IL20RA_uc003qhi.3_5'UTR NM_014432 NP_055247 Q9UHF4 I20RA_HUMAN Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA. 198 Fibronectin type-III 2. integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) TGTGGTTGGTCACACACTGGG 0.542000 48 4 0 0 1 0 0 ANKRD26 22852 broad.mit.edu 37 10 27350157 27350157 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:27350157G>A uc009xku.1 - 12 1550 c.1378C>T c.(1378-1380)Cct>Tct p.P460S ANKRD26_uc001itg.2_Intron|ANKRD26_uc001ith.2_Missense_Mutation_p.P460S NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA. 460 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 ATGCAAGAAGGTATATAAAAC 0.294000 90 15 0 0 1 0 0 SLC52A1 55065 broad.mit.edu 37 17 4936279 4936279 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:4936279C>T uc002gap.4 - 4 2033 c.1320G>A c.(1318-1320)aaG>aaA p.K440K SLC52A1_uc002gao.4_Silent_p.K440K|SLC52A1_uc010ckw.3_Silent_p.K318K|SLC52A1_uc010ckx.3_3'UTR NM_001104577 NP_060456 Q9NWF4 RFT_HUMAN Homo sapiens G protein-coupled receptor 172B (GPR172B), transcript variant 1, mRNA. 440 integral to plasma membrane receptor activity|riboflavin transporter activity p.K440N(1) CTACACAGTCCTTTCTGCTTT 0.607000 35 4 0 0 1 0 0 BEND2 139105 broad.mit.edu 37 X 18221654 18221654 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:18221654C>T uc004cyj.4 - 4 1028 c.874G>A c.(874-876)Gcc>Acc p.A292T BEND2_uc010nfb.2_Missense_Mutation_p.A292T NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA. 292 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 GATGACAAGGCTCTACCTGGG 0.418000 26 16 0 0 1 0 0 WDR25 79446 broad.mit.edu 37 14 100996263 100996263 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:100996263G>A uc010avx.3 + 6 1613 c.1520G>A c.(1519-1521)cGa>cAa p.R507Q WDR25_uc001yhn.3_Missense_Mutation_p.R507Q|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_Missense_Mutation_p.R250Q NM_001161476 NP_078791 Q64LD2 WDR25_HUMAN Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA. 507 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) ACAGCCAGCCGAGCATGCACA 0.677000 89 7 0 0 1 0 0 RNF31 55072 broad.mit.edu 37 14 24619927 24619927 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:24619927C>T uc001wmn.1 + 7 1567 c.1318C>T c.(1318-1320)Cca>Tca p.P440S RNF31_uc001wml.1_Missense_Mutation_p.P289S|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.P255S|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN Homo sapiens ring finger protein 31 (RNF31), mRNA. 440 Polyubiquitin-binding. CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination CD40 receptor complex|LUBAC complex|internal side of plasma membrane ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) TAGCCCCATTCCAGCACAACA 0.602000 98 11 0 0 1 0 0 TMEM37 140738 broad.mit.edu 37 2 120194767 120194767 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:120194767C>T uc002tly.3 + 1 358 c.324C>T c.(322-324)ttC>ttT p.F108F NM_183240 NP_899063 Q8WXS4 CCGL_HUMAN Homo sapiens transmembrane protein 37 (TMEM37), mRNA. 108 integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 GCCTGGAGTTCCTCATGGTGT 0.652000 140 14 0 0 1 0 0 MRPL28 10573 broad.mit.edu 37 16 419071 419071 + Silent SNP G C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:419071G>C uc002cgs.2 - 2 516 c.438C>G c.(436-438)ctC>ctG p.L146L NM_006428 NP_006419 Q13084 RM28_HUMAN Homo sapiens mitochondrial ribosomal protein L28 (MRPL28), nuclear gene encoding mitochondrial protein, mRNA. 146 translation mitochondrial ribosome protein binding|structural constituent of ribosome breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1) 5 Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064) CGCTTGCCTTGAGGATGTAAA 0.587000 28 6 0 0 1 0 0 COLQ 8292 broad.mit.edu 37 3 15512123 15512123 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:15512123C>T uc003bzx.3 - 11 763 c.637_splice c.e11-1 p.G213_splice COLQ_uc003bzv.3_Splice_Site_p.G203_splice|COLQ_uc010heo.3_Splice_Site_p.G179_splice|COLQ_uc003cad.1_Splice_Site|COLQ_uc003cae.1_Splice_Site_p.G72_splice NM_005677 NP_005668 Q9Y215 COLQ_HUMAN Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA. 213 Collagen-like 1. acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft endometrium(2)|large_intestine(4)|lung(10)|skin(3) 19 CCCATTTCACCCTGGAAAGAA 0.532000 104 8 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457158 110457158 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:110457158C>T uc003yne.3 + 37 5164 c.5060C>T c.(5059-5061)tCt>tTt p.S1687F NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 1687 IPT/TIG 9. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTTGCCGTTTCTTCTGCAGGT 0.438000 HNSCC(38;0.096) 79 5 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100147 168100147 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:168100147G>A uc002udx.3 + 8 2334 c.2245G>A c.(2245-2247)Ggc>Agc p.G749S XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G574S|XIRP2_uc010fpq.3_Missense_Mutation_p.G527S|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 574 actin cytoskeleton organization cell junction actin binding p.S748L(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGATGGTTCGGGCCAAATGCT 0.383000 22 3 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60743815 60743815 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:60743815G>A uc002jad.3 + 4 1097 c.695_splice c.e4-1 p.S232_splice NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN Homo sapiens mannose receptor, C type 2 (MRC2), mRNA. 232 endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 CGTGGTGGCAGGTAACGACTG 0.632000 68 9 0 0 1 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 67457 67457 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrGL000209.1:67457G>A uc002qud.4 + 6 1013 c.940G>A c.(940-942)Gaa>Aaa p.E314K KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_3'UTR|KIR2DL2_uc010yic.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evd.3_3'UTR|KIR2DL2_uc002quc.4_Missense_Mutation_p.E292K|KIR2DL2_uc002quh.4_Missense_Mutation_p.E201K|KIR2DL2_uc002que.4_Missense_Mutation_p.E279K|KIR2DL2_uc002quf.4_Missense_Mutation_p.E184K|KIR2DL2_uc010eve.3_3'UTR|KIR2DL2_uc002qug.4_Missense_Mutation_p.E257K|KIR2DL2_uc010evf.3_Non-coding_Transcript|KIR2DL2_uc010evg.1_5'Flank|KIR2DL2_uc010evh.1_5'Flank|KIR2DL2_uc002qui.2_5'Flank|KIR2DL2_uc021vdb.1_5'Flank|KIR2DL2_uc010yie.2_5'Flank NM_002255 NP_002246 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA. 294 regulation of immune response integral to membrane|plasma membrane receptor activity GGACTCTGATGAACAAGACCC 0.488000 54 10 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145560117 145560117 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:145560117G>A uc001eob.1 + 7 711 c.603G>A c.(601-603)gtG>gtA p.V201V ANKRD35_uc010oyx.1_Silent_p.V44V NM_144698 NP_653299 Q8N283 ANR35_HUMAN Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA. 201 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GTGCCGAGGTGGCTGAACTGC 0.567000 76 8 0 0 1 0 0 PHF12 57649 broad.mit.edu 37 17 27244400 27244400 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:27244400G>A uc002hdg.1 - 6 1567 c.1037C>T c.(1036-1038)tCg>tTg p.S346L PHF12_uc010wbb.1_Missense_Mutation_p.S328L|PHF12_uc002hdi.1_Missense_Mutation_p.S342L|PHF12_uc002hdj.1_Missense_Mutation_p.S346L|PHF12_uc010crw.1_Missense_Mutation_p.S49L|PHF12_uc002hdh.1_Missense_Mutation_p.S129L NM_001033561 NP_001028733 Q96QT6 PHF12_HUMAN Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA. 346 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) GACATGCTGCGAAACGGTGTC 0.517000 63 7 0 0 1 0 0 TRPM5 29850 broad.mit.edu 37 11 2439451 2439451 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:2439451C>T uc010qxl.2 - 5 861 c.852G>A c.(850-852)gaG>gaA p.E284E TRPM5_uc001lwm.4_Silent_p.E284E|TRPM5_uc009ydn.3_Silent_p.E286E NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA. 284 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity p.V277_W293del(2) breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) TGGGGAACTTCTCCTTAAACT 0.632000 369 27 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20976491 20976491 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:20976491C>T uc010vbe.2 - 52 8715 c.8715G>A c.(8713-8715)cgG>cgA p.R2905R DNAH3_uc010vbd.2_Silent_p.R340R NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2905 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCAGTCGCTCCCGTTTGGGAG 0.592000 142 11 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144098438 144098438 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:144098438C>T uc022aoj.1 - 3 545 c.545G>A c.(544-546)gGg>gAg p.G182E NM_001080413 NP_001073882 O60393 NOBOX_HUMAN Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA. 182 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) ACAATCTTCCCCCTGAGTCTG 0.622000 25 4 0 0 1 0 0 GPM6A 2823 broad.mit.edu 37 4 176594942 176594942 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:176594942G>A uc003iuf.3 - 2 1080 c.276C>T c.(274-276)ttC>ttT p.F92F GPM6A_uc011ckj.2_Silent_p.F85F|GPM6A_uc003iug.3_Silent_p.F92F|GPM6A_uc003iuh.3_Silent_p.F81F NM_201591 NP_963885 P51674 GPM6A_HUMAN Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA. 92 cell surface|integral to membrane NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) CATACACAAAGAACGCAGCTG 0.418000 18 4 0 0 1 0 0 CDSN 1041 broad.mit.edu 37 6 31084560 31084560 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31084560G>A uc003nsm.2 - 1 888 c.832C>T c.(832-834)Ctt>Ttt p.L278F PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron NM_001264 NP_001255 Q15517 CDSN_HUMAN Homo sapiens corneodesmosin (CDSN), mRNA. 278 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 TTGCCTGGAAGGCCACCATTG 0.597000 49 5 0 0 1 0 0 RECQL 5965 broad.mit.edu 37 12 21636346 21636346 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:21636346G>A uc001rex.3 - 6 1012 c.664C>T c.(664-666)Cac>Tac p.H222Y RECQL_uc001rey.3_Missense_Mutation_p.H222Y NM_032941 NP_116559 P46063 RECQ1_HUMAN Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA. 222 Helicase ATP-binding. DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 CTACAGCAGTGAACTTCATCC 0.393000 Other identified genes with known or suspected DNA repair function 23 4 0 0 1 0 0 UBAP2L 9898 broad.mit.edu 37 1 154241257 154241257 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:154241257C>T uc001fep.4 + 25 3162 c.2995C>T c.(2995-2997)Cat>Tat p.H999Y UBAP2L_uc010pel.2_Missense_Mutation_p.H1008Y|UBAP2L_uc001feq.3_Missense_Mutation_p.H195Y|UBAP2L_uc001fer.3_Missense_Mutation_p.H195Y NM_014847 NP_055662 Q14157 UBP2L_HUMAN Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA. 999 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ACAAGGTTTTCATTCCGGTAC 0.537000 130 12 0 0 1 0 0 PCDP1 200373 broad.mit.edu 37 2 120362843 120362843 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:120362843G>A uc002tmb.3 + 11 1365 c.253G>A c.(253-255)Gag>Aag p.E85K PCDP1_uc010yyq.2_Missense_Mutation_p.E215K NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA. 371 cilium calmodulin binding Colorectal(110;0.196) CATTCACGAAGAGATGGAAAA 0.383000 33 4 0 0 1 0 0 GPR61 83873 broad.mit.edu 37 1 110085848 110085848 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:110085848C>T uc021orh.1 + 0 204 c.204C>T c.(202-204)gcC>gcT p.A68A GPR61_uc001dxy.2_Silent_p.A68A NM_031936 NP_114142 Q9BZJ8 GPR61_HUMAN Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA. 68 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 23 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) CCGTGATCGCCAAGACGCCTG 0.602000 110 8 0 0 1 0 0 TCF3 6929 broad.mit.edu 37 19 1611752 1611752 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:1611752G>A uc002ltr.3 - 18 1988 c.1919C>T c.(1918-1920)cCc>cTc p.P640L TCF3_uc002ltn.3_Missense_Mutation_p.P89L|TCF3_uc002lto.3_Missense_Mutation_p.P401L|TCF3_uc002ltt.4_Missense_Mutation_p.P637L|TCF3_uc002ltq.3_Missense_Mutation_p.P644L|TCF3_uc002lts.1_Missense_Mutation_p.P552L NM_003200 NP_003191 P15923 TFE2_HUMAN Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA. 640 B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex DNA binding|E-box binding|bHLH transcription factor binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCTGGGTGGGGAGCTGAAAG 0.617000 T """PBX1, HLF, TFPT""" pre B-ALL 59 13 0 0 1 0 0 NOL9 79707 broad.mit.edu 37 1 6610460 6610460 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:6610460G>A uc001ans.3 - 1 708 c.612C>T c.(610-612)aaC>aaT p.N204N NOL9_uc010nzs.2_Non-coding_Transcript NM_024654 NP_078930 Q5SY16 NOL9_HUMAN Homo sapiens nucleolar protein 9 (NOL9), mRNA. 204 maturation of 5.8S rRNA nucleolus ATP binding|RNA binding|polynucleotide 5'-hydroxyl-kinase activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1) 19 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) CATTACCAAGGTTAAGATGAG 0.438000 61 18 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114515914 114515914 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:114515914C>T uc001eem.3 + 15 3574 c.3413C>T c.(3412-3414)tCc>tTc p.S1138F HIPK1_uc001een.3_Missense_Mutation_p.S1138F|HIPK1_uc001eeo.3_Missense_Mutation_p.S764F|HIPK1_uc001eep.3_Missense_Mutation_p.S744F|HIPK1_uc001eeq.3_Missense_Mutation_p.S430F NM_198268 NP_938010 Q86Z02 HIPK1_HUMAN Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA. 1138 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCACAGGGTTCCTCAAGGCAT 0.587000 107 37 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109926464 109926464 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:109926464C>T uc001top.3 + 6 1138 c.535C>T c.(535-537)Cgg>Tgg p.R179W UBE3B_uc001toq.3_Missense_Mutation_p.R179W|UBE3B_uc001tom.3_Missense_Mutation_p.R179W|UBE3B_uc001ton.3_Missense_Mutation_p.R179W|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Missense_Mutation_p.R179W|UBE3B_uc001tor.3_Missense_Mutation_p.R179W NM_130466 NP_904324 Q7Z3V4 UBE3B_HUMAN Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA. 179 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 GAAAATTCTTCGGGGAAAAGG 0.448000 94 8 0 0 1 0 0 SLC35E4 339665 broad.mit.edu 37 22 31042955 31042955 + Silent SNP C T T rs117790300 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:31042955C>T uc003ais.1 + 1 1635 c.990C>T c.(988-990)ttC>ttT p.F330F SLC35E4_uc003ait.3_Intron NM_001001479 NP_001001479 Q6ICL7 S35E4_HUMAN Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA. 330 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 10 ACTGCGAGTTCGTGGCCTCCT 0.632000 62 6 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43950826 43950826 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:43950826T>A uc003bdy.2 - 26 3885 c.3571A>T c.(3571-3573)Atg>Ttg p.M1191L EFCAB6_uc003bdz.2_Missense_Mutation_p.M1039L|EFCAB6_uc010gzi.2_Missense_Mutation_p.M1039L|EFCAB6_uc010gzj.1_Missense_Mutation_p.M417L NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 1191 EF-hand 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TTCGTTTTCATGGTGTCAAAA 0.522000 136 10 0 0 1 0 0 IL28RA 163702 broad.mit.edu 37 1 24483936 24483936 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:24483936G>A uc001bis.3 - 6 1274 c.1247C>T c.(1246-1248)cCg>cTg p.P416L IL28RA_uc001bir.3_Missense_Mutation_p.P387L|IL28RA_uc001bit.3_3'UTR|IL28RA_uc001biu.3_Missense_Mutation_p.P332L NM_170743 NP_734464 Q8IU57 I28RA_HUMAN Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA. 416 cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host interleukin-28 receptor complex protein binding|receptor activity autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4) 16 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185) ATCCCCACCCGGCCCTTGGCC 0.602000 66 22 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41552702 41552702 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:41552702C>T uc003xok.3 - 26 3192 c.3108G>A c.(3106-3108)atG>atA p.M1036I NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.M352I|ANK1_uc003xoi.3_Missense_Mutation_p.M1036I|ANK1_uc003xoj.3_Missense_Mutation_p.M1036I|ANK1_uc003xol.3_Missense_Mutation_p.M1036I|ANK1_uc003xom.3_Missense_Mutation_p.M1077I NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 1036 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.G1035W(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TACCTTCGTCCATCCCGTTGA 0.602000 207 18 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55330035 55330035 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55330035C>T uc002qhl.4 + 2 399 c.336C>T c.(334-336)ccC>ccT p.P112P KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Silent_p.P112P|KIR3DL2_uc010esf.3_Intron|KIR3DL2_uc021vbo.1_Silent_p.P112P|KIR3DL2_uc002qhk.4_Silent_p.P112P P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA. 112 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) CCAGCAACCCCGTGGTGATCA 0.607000 93 5 0 0 1 0 0 BRSK1 84446 broad.mit.edu 37 19 55820066 55820066 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55820066C>T uc002qkf.3 + 19 2324 c.2197C>T c.(2197-2199)Cat>Tat p.H733Y BRSK1_uc002qkg.3_Missense_Mutation_p.H717Y|BRSK1_uc002qkh.3_Missense_Mutation_p.H412Y|Mir_324_uc021vbu.1_5'Flank NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA. 717 G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) CCTGAGCACTCATGACCAGCC 0.706000 21 5 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281938 152281938 + Silent SNP C T T rs142906121 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152281938C>T uc001ezu.1 - 2 5460 c.5424G>A c.(5422-5424)gaG>gaA p.E1808E NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1808 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.Q1807K(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCCTGACCCTCTTGGGACG 0.602000 Ichthyosis 394 34 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113856862 113856862 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:113856862G>A uc010rxb.2 + 5 921 c.688G>A c.(688-690)Gaa>Aaa p.E230K HTR3A_uc010rxa.2_Missense_Mutation_p.E230K|HTR3A_uc009yyx.3_Intron|HTR3A_uc010rxc.2_Missense_Mutation_p.E209K NM_213621 NP_998786 P46098 5HT3A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA. 224 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) GTTCAGCATGGAAAGCAGTAA 0.483000 136 11 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216288916 216288916 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:216288916G>A uc002vfa.3 - 7 1435 c.1169C>T c.(1168-1170)tCg>tTg p.S390L FN1_uc002vfc.3_Missense_Mutation_p.S390L|FN1_uc002vfe.3_Missense_Mutation_p.S390L|FN1_uc002vff.3_Missense_Mutation_p.S390L|FN1_uc002vfg.3_Missense_Mutation_p.S390L|FN1_uc002vfh.3_Missense_Mutation_p.S390L|FN1_uc002vfi.3_Missense_Mutation_p.S390L|FN1_uc002vfj.3_Missense_Mutation_p.S390L|FN1_uc002vfb.3_Missense_Mutation_p.S390L|FN1_uc002vfl.3_Missense_Mutation_p.S390L NM_212482 NP_997647 P02751 FINC_HUMAN Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA. 390 Collagen-binding.|Fibronectin type-II 1. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding p.S390S(1) FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCATAATTCGAAGTTGTGCT 0.512000 107 13 0 0 1 0 0 DNAJC12 56521 broad.mit.edu 37 10 69565524 69565524 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:69565524C>A uc001jnb.3 - 3 487 c.319G>T c.(319-321)Ggt>Tgt p.G107C U6_uc021prq.1_5'Flank NM_021800 NP_068572 Q9UKB3 DJC12_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 12 (DNAJC12), transcript variant 1, mRNA. 107 protein folding heat shock protein binding|unfolded protein binding breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 12 TCTTTTTTACCTCTGACAACC 0.318000 47 8 0.000157383 0.000158986 1 1 0 ZNF281 23528 broad.mit.edu 37 1 200376289 200376289 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:200376289A>T uc001gve.3 - 1 2652 c.2545T>A c.(2545-2547)Ttt>Att p.F849I ZNF281_uc001gvf.1_Missense_Mutation_p.F849I|ZNF281_uc001gvg.1_Missense_Mutation_p.F813I|ZNF281_uc021phb.1_Missense_Mutation_p.F849I NM_012482 NP_036614 Q9Y2X9 ZN281_HUMAN Homo sapiens zinc finger protein 281 (ZNF281), mRNA. 849 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 TTAGTGATAAAGGTCATTGGC 0.428000 91 6 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 3990604 3990604 + Silent SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:3990604G>T uc003smx.3 + 5 1036 c.897G>T c.(895-897)ccG>ccT p.P299P NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 299 Ig-like C2-type 3. cell adhesion integral to membrane p.P299P(2) NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TGGTTCCCCCGGGCAACAGAA 0.522000 47 4 1 1 1 1 0 ZMYND15 84225 broad.mit.edu 37 17 4643876 4643876 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:4643876C>T uc002fyu.2 + 0 63 c.33C>T c.(31-33)ttC>ttT p.F11F CXCL16_uc002fyr.4_5'Flank|CXCL16_uc002fys.4_5'Flank|ZMYND15_uc002fyv.2_Silent_p.F11F|ZMYND15_uc002fyt.2_Silent_p.F11F NM_001136046 NP_001129518 Q9H091 ZMY15_HUMAN Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA. 11 zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 GGGATGAGTTCCTTGATTTCA 0.577000 99 15 0 0 1 0 0 SULT1B1 27284 broad.mit.edu 37 4 70615450 70615450 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:70615450T>C uc003hen.3 - 3 662 c.364A>G c.(364-366)Aac>Gac p.N122D NM_014465 NP_055280 O43704 ST1B1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA. 122 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 TTGCAATTGTTTTCCCAGAAA 0.358000 54 10 0 0 1 0 0 TRIM37 4591 broad.mit.edu 37 17 57158499 57158499 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:57158499G>A uc002iwy.4 - 5 895 c.451C>T c.(451-453)Cgt>Tgt p.R151C TRIM37_uc002iwz.4_Missense_Mutation_p.R151C|TRIM37_uc002ixa.4_Missense_Mutation_p.R29C|TRIM37_uc010woc.2_Missense_Mutation_p.R117C NM_001005207 NP_056109 O94972 TRI37_HUMAN Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA. 151 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) AGACGCCGACGAAGTTTGGCT 0.333000 Mulibrey Nanism 55 13 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21230373 21230373 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:21230373G>A uc002red.3 - 25 9495 c.9367C>T c.(9367-9369)Ctg>Ttg p.L3123L NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3123 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AAGAAATCCAGATTTGCTTCT 0.368000 248 14 0 0 1 0 0 OR6V1 346517 broad.mit.edu 37 7 142749564 142749564 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:142749564A>G uc011ksv.2 + 0 127 c.127A>G c.(127-129)Atc>Gtc p.I43V NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA. 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) AAACACCATCATCATAGTTAT 0.488000 179 11 0 0 1 0 0 GABARAP 11337 broad.mit.edu 37 17 7144739 7144739 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:7144739G>A uc002gfb.3 - 2 314 c.210C>T c.(208-210)ctC>ctT p.L70L PHF23_uc002gfa.3_5'Flank|PHF23_uc010vtt.2_5'Flank|PHF23_uc010cma.3_5'Flank NM_007278 NP_009209 O95166 GBRAP_HUMAN Homo sapiens GABA(A) receptor-associated protein (GABARAP), mRNA. 70 Interaction with GPHN (By similarity). protein targeting|synaptic transmission Golgi membrane|autophagic vacuole membrane|microtubule|plasma membrane GABA receptor binding|beta-tubulin binding breast(1)|lung(2) 3 CCTCAGCTCGGAGATGAATTC 0.463000 183 25 0 0 1 0 0 PAFAH1B1 5048 broad.mit.edu 37 17 2570417 2570417 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:2570417G>A uc002fuw.4 + 4 892 c.324G>A c.(322-324)agG>agA p.R108R PAFAH1B1_uc010ckb.2_Non-coding_Transcript NM_000430 NP_000421 P43034 LIS1_HUMAN Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA. 108 Interaction with dynein and dynactin. G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1) 11 GTGGTCACAGGAGTCCAGTCA 0.428000 45 6 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7171637 7171637 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:7171637G>A uc001qsj.3 + 7 1177 c.458G>A c.(457-459)gGt>gAt p.G153D C1S_uc001qsk.3_Missense_Mutation_p.G153D|C1S_uc001qsl.3_Missense_Mutation_p.G153D|C1S_uc009zfr.3_5'UTR|C1S_uc009zfs.3_Non-coding_Transcript NM_201442 NP_958850 P09871 C1S_HUMAN Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA. 153 EGF-like; calcium-binding. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TTCATTGGTGGTTACTTCTGC 0.448000 92 5 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 39994235 39994235 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:39994235G>A uc003ayc.3 + 1 316 c.316G>A c.(316-318)Gac>Aac p.D106N CACNA1I_uc003ayd.3_Missense_Mutation_p.D106N|CACNA1I_uc003aye.3_Missense_Mutation_p.D21N|CACNA1I_uc003ayf.3_Missense_Mutation_p.D21N NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 106 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CGACGACATGGACTGCCTGTC 0.647000 11 3 0 0 1 0 0 PSD2 84249 broad.mit.edu 37 5 139218319 139218319 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:139218319C>T uc003leu.1 + 12 2135 c.1930C>T c.(1930-1932)Cgg>Tgg p.R644W NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA. 644 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAGTTCTGTCGGCCCCTGCT 0.617000 37 7 0 0 1 0 0 PDE4C 5143 broad.mit.edu 37 19 18327613 18327613 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:18327613C>T uc010xqc.2 - 11 1903 c.1423G>A c.(1423-1425)Gat>Aat p.D475N PDE4C_uc002nik.4_Missense_Mutation_p.D475N|PDE4C_uc002nil.4_Missense_Mutation_p.D475N|PDE4C_uc002nig.4_Missense_Mutation_p.D190N|PDE4C_uc002nih.4_Missense_Mutation_p.D245N|PDE4C_uc010ebk.3_Missense_Mutation_p.D369N|PDE4C_uc002nii.4_Missense_Mutation_p.D443N|PDE4C_uc002nif.4_Missense_Mutation_p.D244N|PDE4C_uc010ebl.3_Missense_Mutation_p.D189N NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA. 475 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) TGGAAGATATCGCAGTTCTCT 0.602000 68 25 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 33031367 33031367 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:33031367C>T uc001rlj.4 - 2 562 c.447G>A c.(445-447)gaG>gaA p.E149E PKP2_uc001rlk.4_Silent_p.E149E|PKP2_uc010skj.2_Silent_p.E149E NM_004572 NP_004563 Q99959 PKP2_HUMAN Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. 149 cell-cell adhesion desmosome|integral to membrane|nucleus binding p.E149A(1) NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) CAGGAGAAATCTCCAGTCTCC 0.567000 229 38 0 0 1 0 0 SLC20A2 6575 broad.mit.edu 37 8 42294928 42294928 + Nonsense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:42294928C>A uc003xpe.3 - 7 1471 c.1102G>T c.(1102-1104)Gag>Tag p.E368* SLC20A2_uc010lxl.3_Nonsense_Mutation_p.E368*|SLC20A2_uc010lxm.3_Nonsense_Mutation_p.E368*|SLC20A2_uc011lcu.2_Nonsense_Mutation_p.E170* NM_006749 NP_006740 Q08357 S20A2_HUMAN Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA. 368 interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity p.E368*(2) breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1) 26 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) GGCTTCTCCTCGGGGCCCCTG 0.597000 214 6 1 1 1 1 0 ASPHD1 253982 broad.mit.edu 37 16 29912638 29912638 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:29912638C>T uc002dut.3 + 0 492 c.346C>T c.(346-348)Cgt>Tgt p.R116C BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript NM_181718 NP_859069 Q5U4P2 ASPH1_HUMAN Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA. 116 Gly-rich. peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 TGGGGGTGTTCGTGGTGGGCC 0.697000 65 5 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11216102 11216102 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:11216102G>A uc002mqk.4 + 3 707 c.520G>A c.(520-522)Gaa>Aaa p.E174K LDLR_uc010xlk.2_Missense_Mutation_p.E174K|LDLR_uc010xll.2_Missense_Mutation_p.E133K|LDLR_uc021upc.1_Missense_Mutation_p.E53K|LDLR_uc010xln.2_Intron|LDLR_uc010xlo.2_Intron|LDLR_uc010xlm.2_Missense_Mutation_p.E27K|LDLR_uc021upd.1_5'UTR NM_000527 NP_000518 P01130 LDLR_HUMAN Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA. 174 LDL-receptor class A 4. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CCCCGACTGCGAAGATGGCTC 0.647000 173 46 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685274 125685274 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:125685274C>T uc022cds.1 - 0 1318 c.1318G>A c.(1318-1320)Gag>Aag p.E440K DCAF12L1_uc004eul.3_Missense_Mutation_p.E440K NM_178470 NP_848565 Q5VU92 DC121_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA. 440 p.E440*(2) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 AGCTTCATCTCAGGCCAGTTG 0.552000 63 20 0 0 1 0 0 DDR1 780 broad.mit.edu 37 6 30860213 30860213 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:30860213C>T uc003nrv.3 + 6 1035 c.993C>T c.(991-993)gcC>gcT p.A331A DDR1_uc010jse.3_Silent_p.A331A|DDR1_uc003nrq.3_Silent_p.A331A|DDR1_uc003nrr.3_Silent_p.A331A|DDR1_uc003nrs.3_Silent_p.A331A|DDR1_uc003nrt.3_Silent_p.A331A|DDR1_uc011dms.2_Silent_p.A349A|DDR1_uc003nru.3_Silent_p.A331A|DDR1_uc003nry.2_Silent_p.A331A|DDR1_uc003nrx.2_Silent_p.A331A|DDR1_uc003nrw.1_Silent_p.A130A NM_013994 NP_054700 Q08345 DDR1_HUMAN Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA. 331 cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) ACCCCAGAGCCCGGGCTGTCT 0.672000 41 8 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22852806 22852806 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:22852806C>T uc001bft.2 + 18 4148 c.3637C>T c.(3637-3639)Cag>Tag p.Q1213* ZBTB40_uc001bfu.2_Nonsense_Mutation_p.Q1213*|ZBTB40_uc009vqi.1_Nonsense_Mutation_p.Q1101* NM_001083621 NP_055685 Q9NUA8 ZBT40_HUMAN Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA. 1213 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) TCAGGCATCTCAGGCCAGCTC 0.607000 85 26 0 0 1 0 0 CCDC169-SOHLH2 100526761 broad.mit.edu 37 13 36748901 36748901 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:36748901C>T uc010tei.2 - 11 1293 c.978G>A c.(976-978)gtG>gtA p.V326V CCDC169-SOHLH2_uc001uvj.3_Silent_p.V249V NM_001198910 NP_001185839 B4DX90 B4DX90_HUMAN Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA. 326 regulation of transcription, DNA-dependent nucleus GGATATATTTCACATAATCAA 0.403000 24 7 0 0 1 0 0 GPR182 11318 broad.mit.edu 37 12 57389900 57389900 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:57389900G>A uc021qzf.1 + 0 907 c.907G>A c.(907-909)Gat>Aat p.D303N GPR182_uc001smk.3_Missense_Mutation_p.D303N NM_007264 NP_009195 O15218 GP182_HUMAN Homo sapiens G protein-coupled receptor 182 (GPR182), mRNA. 303 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 15 CTTCTTCTATGATGTCATTGA 0.552000 202 20 0 0 1 0 0 TBX19 9095 broad.mit.edu 37 1 168274352 168274352 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:168274352C>T uc001gfl.3 + 5 885 c.834C>T c.(832-834)ggC>ggT p.G278G TBX19_uc001gfj.4_Intron|TBX19_uc001gfm.3_5'UTR NM_005149 NP_005140 O60806 TBX19_HUMAN Homo sapiens T-box 19 (TBX19), mRNA. 278 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) CCCACCATGGCTGTGAGCACT 0.562000 97 20 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98917635 98917635 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:98917635C>T uc001kmw.2 - 3 605 c.353G>A c.(352-354)cGa>cAa p.R118Q SLIT1_uc009xvh.1_Missense_Mutation_p.R118Q|ARHGAP19_uc001kmy.3_Non-coding_Transcript NM_003061 NP_003052 O75093 SLIT1_HUMAN Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA. 118 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space Roundabout binding|calcium ion binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CAGCTGGTTTCGGTTCAGTCG 0.483000 150 12 0 0 1 0 0 PPP2R5E 5529 broad.mit.edu 37 14 64006315 64006315 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:64006315G>A uc001xgd.1 - 1 679 c.89C>T c.(88-90)tCg>tTg p.S30L PPP2R5E_uc010tsh.1_Missense_Mutation_p.S30L|PPP2R5E_uc001xge.2_Missense_Mutation_p.S30L|PPP2R5E_uc001xgf.1_Non-coding_Transcript|PPP2R5E_uc001xgg.4_Missense_Mutation_p.S30L NM_006246 NP_006237 Q16537 2A5E_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA. 30 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1) 15 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) GGAACTTTGCGACCTCTTCTG 0.468000 84 6 0 0 1 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35944601 35944601 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:35944601C>T uc001byx.3 - 3 1137 c.879G>A c.(877-879)caG>caA p.Q293Q KIAA0319L_uc010ohw.2_Non-coding_Transcript|KIAA0319L_uc010ohx.1_Silent_p.Q293Q NM_024874 NP_079150 Q8IZA0 K319L_HUMAN Homo sapiens KIAA0319-like (KIAA0319L), mRNA. 293 cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GGAAAGAGGCCTGGGGGGTAG 0.488000 87 11 0 0 1 0 0 DPY19L3 147991 broad.mit.edu 37 19 32949392 32949392 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:32949392C>T uc002ntg.3 + 11 1497 c.1299C>T c.(1297-1299)ttC>ttT p.F433F DPY19L3_uc002nth.2_Silent_p.F433F|DPY19L3_uc002nti.2_Non-coding_Transcript NM_001172774 NP_997208 Q6ZPD9 D19L3_HUMAN Homo sapiens dpy-19-like 3 (C. elegans) (DPY19L3), transcript variant 2, mRNA. 433 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) TTGTAGCATTCGTTGTTGCCT 0.358000 87 19 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41029282 41029282 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:41029282C>T uc004dfb.3 + 18 3304 c.2671C>T c.(2671-2673)Cga>Tga p.R891* USP9X_uc004dfc.3_Nonsense_Mutation_p.R891* NM_001039590 NP_001034679 Q93008 USP9X_HUMAN Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA. 891 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TTTTGTAGTTCGATTTCCAAA 0.408000 37 15 0 0 1 0 0 FCRL4 83417 broad.mit.edu 37 1 157557249 157557249 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:157557249C>T uc001fqw.3 - 4 800 c.664G>A c.(664-666)Gac>Aac p.D222N FCRL4_uc010phy.2_Non-coding_Transcript NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Homo sapiens Fc receptor-like 4 (FCRL4), mRNA. 222 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) AGTGGGGTGTCTGACCGCTCT 0.517000 87 15 0 0 1 0 0 THAP6 152815 broad.mit.edu 37 4 76452309 76452309 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:76452309A>G uc003him.3 + 4 651 c.554A>G c.(553-555)aAg>aGg p.K185R THAP6_uc003hin.3_Missense_Mutation_p.K143R|THAP6_uc011cbm.2_Intron|THAP6_uc010iiu.1_Intron|THAP6_uc003hio.1_Intron|THAP6_uc010iiv.3_Missense_Mutation_p.K185R NM_144721 NP_653322 Q8TBB0 THAP6_HUMAN Homo sapiens THAP domain containing 6 (THAP6), mRNA. 185 microtubule cytoskeleton DNA binding|metal ion binding lung(5) 5 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TCATTGAGGAAGACAATCAGG 0.403000 28 6 0 0 1 0 0 OR4A47 403253 broad.mit.edu 37 11 48511028 48511028 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:48511028G>A uc010rhx.2 + 0 684 c.684G>A c.(682-684)caG>caA p.Q228Q NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA. 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 ACCTTAGTCAGAAAGGGAGGC 0.438000 18 3 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198682180 198682180 + Missense_Mutation SNP C T T rs142046206 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:198682180C>T uc001gur.1 + 11 1444 c.1264C>T c.(1264-1266)Ctc>Ttc p.L422F PTPRC_uc001gut.1_Missense_Mutation_p.L261F|PTPRC_uc009wzf.1_Missense_Mutation_p.L310F|PTPRC_uc021pgy.1_Missense_Mutation_p.L376F|PTPRC_uc010ppg.1_Missense_Mutation_p.L358F NM_002838 NP_002829 P08575 PTPRC_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA. 422 Fibronectin type-III 1. B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TAATTTTACCCTCTGTTATAT 0.333000 69 6 0 0 1 0 0 C1orf182 128229 broad.mit.edu 37 1 156314452 156314452 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:156314452C>T uc001foo.3 + 2 476 c.116C>T c.(115-117)tCc>tTc p.S39F C1orf182_uc009wry.3_Missense_Mutation_p.S39F|C1orf182_uc001fop.4_Missense_Mutation_p.S39F NM_144627 NP_653228 Q96A04 CA182_HUMAN Homo sapiens chromosome 1 open reading frame 182 (C1orf182), mRNA. 39 lung(2)|prostate(2) 4 Hepatocellular(266;0.158) CAAGCAAGTTCCCCACCAGCC 0.473000 87 18 0 0 1 0 0 SERPINA11 256394 broad.mit.edu 37 14 94912891 94912891 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:94912891A>T uc001ydd.1 - 2 754 c.694T>A c.(694-696)Ttc>Atc p.F232I NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA. 232 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) TCCACAAAGAAACTTTCCTGC 0.488000 52 6 0 0 1 0 0 IGSF9 57549 broad.mit.edu 37 1 159901303 159901303 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:159901303C>T uc001fur.2 - 11 1651 c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K IGSF9_uc001fuq.2_Missense_Mutation_p.E469K|IGSF9_uc001fup.2_5'UTR NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA. 485 Ig-like 5. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GCACTGCATTCCCAGTGCCCG 0.642000 55 10 0 0 1 0 0 CCAR1 55749 broad.mit.edu 37 10 70502258 70502258 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:70502258C>T uc001joo.3 + 5 569 c.450C>T c.(448-450)ttC>ttT p.F150F CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_5'UTR|CCAR1_uc009xpx.1_Silent_p.F124F|CCAR1_uc001jon.1_Silent_p.F96F|CCAR1_uc010qiz.1_Silent_p.F135F|CCAR1_uc010qja.1_Silent_p.F135F|CCAR1_uc010qjb.2_Non-coding_Transcript NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA. 150 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding p.F150V(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 AGCGTGTTTTCACAGGGGTGG 0.433000 67 9 0 0 1 0 0 NVL 4931 broad.mit.edu 37 1 224482050 224482050 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:224482050G>A uc001hok.3 - 11 1306 c.1244C>T c.(1243-1245)tCg>tTg p.S415L NVL_uc001hol.3_Missense_Mutation_p.S309L|NVL_uc010pvd.2_Missense_Mutation_p.S324L|NVL_uc010pve.2_Missense_Mutation_p.S226L|NVL_uc010pvf.2_Non-coding_Transcript NM_002533 NP_002524 O15381 NVL_HUMAN Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA. 415 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) AGGGTCTAACGAGTCTGGTCG 0.458000 60 6 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90648040 90648040 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:90648040G>A uc011eab.2 - 7 2740 c.1866C>T c.(1864-1866)atC>atT p.I622I BACH2_uc003pnw.3_Silent_p.I622I NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA. 622 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) GAAGATCTGTGATTTGATCTA 0.388000 37 5 0 0 1 0 0 INMT 11185 broad.mit.edu 37 7 30791802 30791802 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:30791802G>A uc003tbs.1 + 0 52 c.36G>A c.(34-36)caG>caA p.Q12Q FAM188B_uc010kwe.3_5'UTR|INMT_uc010kwc.1_Intron|INMT_uc010kwd.1_Silent_p.Q12Q NM_006774 NP_006765 O95050 INMT_HUMAN Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA. 12 cytoplasm amine N-methyltransferase activity kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1) 23 ATGAGTACCAGAAGCACTTCC 0.552000 126 8 0 0 1 0 0 VNN2 8875 broad.mit.edu 37 6 133072429 133072429 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:133072429A>T uc003qdt.3 - 4 1066 c.1055T>A c.(1054-1056)tTt>tAt p.F352Y VNN2_uc003qds.3_Missense_Mutation_p.F61Y|VNN2_uc010kgb.3_Intron|VNN2_uc003qdv.3_Missense_Mutation_p.F299Y NM_004665 NP_004656 O95498 VNN2_HUMAN Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA. 352 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) TGCATTTTCAAAAAGTTCTGT 0.388000 39 6 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36499563 36499563 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:36499563G>A uc002hpz.3 - 0 131 c.110C>T c.(109-111)cCt>cTt p.P37L NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA. 37 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GGAAGACAGAGGGGGCAGAGA 0.652000 42 9 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38621191 38621191 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:38621191C>T uc002ohk.3 + 9 3431 c.2922C>T c.(2920-2922)ctC>ctT p.L974L NM_015073 NP_055888 O60292 SI1L3_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA. 974 PDZ. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GGAACGGGCTCGGGCAGCTGG 0.667000 82 7 0 0 1 0 0 KCNQ1 3784 broad.mit.edu 37 11 2549161 2549161 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:2549161C>T uc001lwn.3 + 1 498 c.390C>T c.(388-390)ttC>ttT p.F130F KCNQ1_uc009ydo.1_3'UTR|KCNQ1_uc009ydp.1_5'UTR|KCNQ1_uc001lwo.3_Silent_p.F3F NM_000218 NP_000209 P51787 KCNQ1_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA. 130 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) CTTGCAGCTTCCTCATCGTCC 0.642000 371 31 0 0 1 0 0 CELP 1057 broad.mit.edu 37 9 135961730 135961730 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:135961730G>A uc011mcu.1 + 3 565 c.472G>A c.(472-474)Gag>Aag p.E158K Homo sapiens carboxyl ester lipase pseudogene (CELP), non-coding RNA. CCATAGAGATGAGATCCAGTA 0.597000 143 12 0 0 1 0 0 BPIFB6 128859 broad.mit.edu 37 20 31621995 31621995 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:31621995G>A uc010zuc.2 + 2 201 c.201G>A c.(199-201)ttG>ttA p.L67L BPIFB6_uc010zud.2_Silent_p.L6L NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA. 67 extracellular region lipid binding TTCCCAGTTTGAAGGTGAAGG 0.527000 90 21 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50453412 50453412 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:50453412C>T uc010ybh.2 - 10 2003 c.1912G>A c.(1912-1914)Gaa>Aaa p.E638K SIGLEC11_uc010ybi.2_Missense_Mutation_p.E542K NM_052884 NP_443116 Q96RL6 SIG11_HUMAN Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA. 638 cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) TCCTGCTCTTCCCCCTTCCCC 0.657000 25 7 0 0 1 0 0 RPS29 6235 broad.mit.edu 37 14 50052766 50052766 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:50052766G>A uc001wwl.3 - 2 93 c.63_splice c.e2-1 p.C21_splice NEMF_uc010anj.1_Intron|RPS29_uc001wwm.3_Splice_Site_p.C21_splice|Metazoa_SRP_uc021rsp.1_5'Flank NM_001030001 NP_001025172 P62273 RS29_HUMAN Homo sapiens ribosomal protein S29 (RPS29), transcript variant 2, mRNA. 21 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome|zinc ion binding endometrium(1)|kidney(1)|lung(1)|ovary(1) 4 all_epithelial(31;0.00214)|Breast(41;0.0124) GAACAGACACGACTGTAAGAA 0.507000 74 5 0 0 1 0 0 YIF1B 90522 broad.mit.edu 37 19 38798389 38798389 + Silent SNP G A A rs143345887 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:38798389G>A uc002ohz.2 - 5 592 c.543C>T c.(541-543)ttC>ttT p.F181F YIF1B_uc002ohw.2_Silent_p.F150F|YIF1B_uc002ohx.2_Silent_p.F166F|YIF1B_uc010xtx.1_Silent_p.F164F|YIF1B_uc010xty.1_Silent_p.F150F|YIF1B_uc002oia.2_Silent_p.F178F|YIF1B_uc002ohy.2_Silent_p.F178F|YIF1B_uc002oib.3_Silent_p.F178F NM_001039672 NP_001034761 Q5BJH7 YIF1B_HUMAN Homo sapiens Yip1 interacting factor homolog B (S. cerevisiae) (YIF1B), transcript variant 5, mRNA. 181 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1) 10 all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GGTCTGGGGAGAACCTGCAGG 0.642000 43 4 0 0 1 0 0 PDE2A 5138 broad.mit.edu 37 11 72291988 72291988 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:72291988G>A uc010rrc.2 - 23 2321 c.2075C>T c.(2074-2076)tCc>tTc p.S692F PDE2A_uc001oso.3_Missense_Mutation_p.S671F|PDE2A_uc010rra.2_Missense_Mutation_p.S685F|PDE2A_uc001osn.3_Missense_Mutation_p.S436F|PDE2A_uc010rrb.2_Missense_Mutation_p.S683F|PDE2A_uc010rrd.2_Missense_Mutation_p.S577F NM_002599 NP_002590 O00408 PDE2A_HUMAN Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA. 692 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) ACACATGCAGGAAATAAACAA 0.532000 162 10 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140181151 140181151 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140181151G>A uc003lhf.2 + 0 369 c.369G>A c.(367-369)gtG>gtA p.V123V PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.V123V NM_018906 NP_061729 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA. 138 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGGAAGTGAAGGACATTA 0.557000 120 21 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247588121 247588121 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:247588121A>G uc001icr.3 + 4 1514 c.1376A>G c.(1375-1377)gAg>gGg p.E459G NLRP3_uc001ics.3_Missense_Mutation_p.E459G|NLRP3_uc001icu.3_Missense_Mutation_p.E459G|NLRP3_uc001icw.3_Missense_Mutation_p.E459G|NLRP3_uc001icv.3_Missense_Mutation_p.E459G|NLRP3_uc010pyw.2_Missense_Mutation_p.E457G|NLRP3_uc001ict.1_Missense_Mutation_p.E457G NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 459 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.Q458K(1) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GGGAGCCAGGAGCACGGCCTC 0.587000 30 3 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61613365 61613365 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:61613365C>T uc002jay.3 + 5 1517 c.1437C>T c.(1435-1437)ttC>ttT p.F479F KCNH6_uc002jax.1_Silent_p.F479F|KCNH6_uc010wpl.2_Silent_p.F356F|KCNH6_uc010wpm.2_Silent_p.F479F|KCNH6_uc002jaz.1_Silent_p.F426F NM_030779 NP_110406 Q9H252 KCNH6_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA. 479 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) GCGTGGGCTTCGGCAATGTCT 0.597000 66 8 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140720640 140720640 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140720640C>T uc003ljk.2 + 0 2287 c.2102C>T c.(2101-2103)tCc>tTc p.S701F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Missense_Mutation_p.S701F|PCDHGC5_uc011dap.2_5'Flank NM_018915 NP_061738 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA. 702 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCGCGGTCTCCTGCGTCTTC 0.662000 127 9 0 0 1 0 0 SPPL2A 84888 broad.mit.edu 37 15 51012139 51012139 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:51012139G>A uc001zyv.3 - 13 1666 c.1486C>T c.(1486-1488)Cag>Tag p.Q496* NM_032802 NP_116191 Q8TCT8 PSL2_HUMAN Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA. 496 integral to membrane aspartic-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) GCACATACCTGATAGCTGTTA 0.393000 36 11 0 0 1 0 0 DCTN1 1639 broad.mit.edu 37 2 74590268 74590268 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:74590268G>A uc002skx.3 - 28 3700 c.3382C>T c.(3382-3384)Cct>Tct p.P1128S SLC4A5_uc002skl.3_Non-coding_Transcript|DCTN1_uc002skt.2_Missense_Mutation_p.P62S|DCTN1_uc002skv.3_Missense_Mutation_p.P994S|DCTN1_uc002sku.3_Missense_Mutation_p.P989S|DCTN1_uc002skw.2_Missense_Mutation_p.P1121S|DCTN1_uc010ffd.3_Missense_Mutation_p.P1103S|DCTN1_uc002sky.3_Missense_Mutation_p.P1086S NM_004082 NP_004073 Q14203 DCTN1_HUMAN Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA. 1128 G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 ACATGCAGAGGGGGCAGGGAT 0.532000 49 4 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42012094 42012094 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:42012094G>A uc011kbh.2 - 12 2036 c.1945C>T c.(1945-1947)Cgg>Tgg p.R649W GLI3_uc011kbg.2_Missense_Mutation_p.R590W NM_000168 NP_000159 P10071 GLI3_HUMAN Homo sapiens GLI family zinc finger 3 (GLI3), mRNA. 649 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 GGTGGCGGCCGAGGATGGATG 0.612000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 100 9 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525813 248525813 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:248525813A>T uc001ieh.1 + 0 931 c.931A>T c.(931-933)Acc>Tcc p.T311S NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA. 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGTCTTCTATACCATCCTCAC 0.478000 44 10 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657540 72657540 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:72657540C>T uc003txs.1 - 12 2372 c.1444G>A c.(1444-1446)Gac>Aac p.D482N FKBP6_uc003twz.2_Intron Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA. cattgcaggtcgataacctcc 0.502000 182 23 0 0 1 0 0 PLD2 5338 broad.mit.edu 37 17 4711405 4711405 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:4711405C>T uc002fzc.3 + 2 362 c.236C>T c.(235-237)tCc>tTc p.S79F PLD2_uc010vsj.2_5'UTR|PLD2_uc002fzd.3_Missense_Mutation_p.S79F NM_002663 NP_002654 O14939 PLD2_HUMAN Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA. 79 PX. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) ACCAGCGGATCCAAGGTGGCC 0.632000 82 12 0 0 1 0 0 BSCL2 26580 broad.mit.edu 37 11 62458830 62458830 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:62458830G>A uc001nut.4 - 7 1529 c.927C>T c.(925-927)ttC>ttT p.F309F LRRN4CL_uc001nun.3_5'Flank|LRRN4CL_uc021qkm.1_5'Flank|BSCL2_uc001nup.3_Silent_p.F245F|BSCL2_uc009yoc.2_Intron|BSCL2_uc001nur.4_Silent_p.F309F|BSCL2_uc009yod.3_Silent_p.F309F|HNRNPUL2_uc001nuu.2_Non-coding_Transcript NM_001122955 NP_001116427 Q96G97 BSCL2_HUMAN Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 1, mRNA. 245 cell death integral to endoplasmic reticulum membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 12 TGACGCTGAGGAAGGTGAAGT 0.567000 388 29 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702340 27702340 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:27702340C>T uc001itu.2 - 0 958 c.840G>A c.(838-840)ctG>ctA p.L280L NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 280 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 AGATGCTGCTCAGGTTGAGCG 0.627000 47 5 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160293284 160293284 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:160293284G>A uc001fvv.4 - 7 1037 c.643C>T c.(643-645)Ccc>Tcc p.P215S COPA_uc009wti.3_Missense_Mutation_p.P215S|COPA_uc009wtj.1_Missense_Mutation_p.P161S NM_001098398 NP_001091868 P53621 COPA_HUMAN Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA. 215 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGCATAGTGGGGTGGAAGGCA 0.438000 30 3 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161471000 161471000 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:161471000C>T uc003qtn.3 + 2 1838 c.1696C>T c.(1696-1698)Cgt>Tgt p.R566C MAP3K4_uc010kkc.1_Missense_Mutation_p.R566C|MAP3K4_uc003qto.3_Missense_Mutation_p.R566C|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA. 566 R -> H (in dbSNP:rs55765351). JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding p.D565Y(1) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) AAAGAACGATCGTCCAGTGGA 0.358000 24 5 0 0 1 0 0 STK40 83931 broad.mit.edu 37 1 36809042 36809042 + Silent SNP G A A rs111658119 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:36809042G>A uc001cak.1 - 10 1419 c.1012C>T c.(1012-1014)Ctg>Ttg p.L338L STK40_uc001cal.1_Silent_p.L343L|STK40_uc001cam.1_Silent_p.L338L|STK40_uc001can.1_Silent_p.L338L NM_032017 NP_114406 Q8N2I9 STK40_HUMAN Homo sapiens serine/threonine kinase 40 (STK40), mRNA. 338 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1) 13 Myeloproliferative disorder(586;0.0393) AGAGATGACAGGGACTGCCTG 0.567000 22 3 0 0 1 0 0 TOMM40L 84134 broad.mit.edu 37 1 161198855 161198855 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:161198855C>T uc001fzd.3 + 9 1126 c.897C>T c.(895-897)ttC>ttT p.F299F TOMM40L_uc010pkl.1_Silent_p.F265F|TOMM40L_uc009wue.3_Silent_p.F181F|TOMM40L_uc009wuf.2_Non-coding_Transcript|TOMM40L_uc001fze.3_Silent_p.F299F NM_032174 NP_115550 Q969M1 TM40L_HUMAN Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast)-like (TOMM40L), nuclear gene encoding mitochondrial protein, mRNA. 299 Required for mitochondrial targeting (By similarity). protein transport mitochondrial outer membrane|pore complex porin activity|voltage-gated anion channel activity large_intestine(2)|liver(4)|lung(4) 10 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCAACAGATTCCATTGTGGCT 0.572000 71 13 0 0 1 0 0 FUT2 2524 broad.mit.edu 37 19 49206790 49206790 + Missense_Mutation SNP G A A rs148371614 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:49206790G>A uc002pke.4 + 1 688 c.577G>A c.(577-579)Ggc>Agc p.G193S FUT2_uc010emc.3_Missense_Mutation_p.G193S|FUT2_uc021uwx.1_Missense_Mutation_p.G193S NM_001097638 NP_001091107 Q10981 FUT2_HUMAN Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA. 193 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) GAGCCGGCCGGGCACCTTTGT 0.652000 62 4 0 0 1 0 0 DTX2 113878 broad.mit.edu 37 7 76111857 76111857 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:76111857C>T uc011kgk.1 + 2 380 c.28C>T c.(28-30)Ccc>Tcc p.P10S DTX2_uc003uff.4_Missense_Mutation_p.P101S|DTX2_uc003ufg.4_Missense_Mutation_p.P101S|DTX2_uc003ufh.4_Missense_Mutation_p.P101S|DTX2_uc003ufj.4_Missense_Mutation_p.P101S NM_020892 NP_065943 Q86UW9 DTX2_HUMAN Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA. 101 WWE 1. Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 ACACCTGTTCCCCCAGCACTC 0.552000 63 14 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810924 7810924 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:7810924C>T uc002mht.2 - 3 295 c.228G>A c.(226-228)gcG>gcA p.A76A CD209_uc010xju.1_Silent_p.A76A|CD209_uc010dvp.2_Silent_p.A52A|CD209_uc002mhr.2_Silent_p.A52A|CD209_uc002mhs.2_Silent_p.A52A|CD209_uc002mhu.2_Silent_p.A76A|CD209_uc010dvq.2_Silent_p.A76A|CD209_uc002mhq.2_Silent_p.A76A|CD209_uc002mhv.2_Silent_p.A52A|CD209_uc002mhx.2_Silent_p.A32A|CD209_uc002mhw.2_Silent_p.A32A|CD209_uc010dvr.2_Intron NM_021155 NP_066978 Q9NNX6 CD209_HUMAN Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA. 76 cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TCTGGTAGATCGCGTCTTGCC 0.512000 149 11 0 0 1 0 0 OR5T1 390155 broad.mit.edu 37 11 56043514 56043514 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:56043514C>T uc001nio.1 + 0 400 c.400C>T c.(400-402)Cgc>Tgc p.R134C NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA. 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R134S(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) GGCTTATGATCGCTATGTAGC 0.413000 40 10 0 0 1 0 0 IFNA14 3448 broad.mit.edu 37 9 21239849 21239849 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:21239849G>A uc010mis.3 - 0 130 c.86C>T c.(85-87)aCc>aTc p.T29I IFNA14_uc003zoo.1_Non-coding_Transcript NM_002172 NP_002163 P01570 IFN14_HUMAN Homo sapiens interferon, alpha 14 (IFNA14), mRNA. 29 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7) 11 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CAGGCTGTGGGTTTGAGACAG 0.493000 15 4 0 0 1 0 0 MYCL1 4610 broad.mit.edu 37 1 40363568 40363568 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:40363568C>T uc001cer.2 - 2 788 c.661G>A c.(661-663)Gtg>Atg p.V221M MYCL1_uc001ces.2_Missense_Mutation_p.V191M NM_001033082 NP_001028253 P12524 MYCL1_HUMAN Homo sapiens v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian) (MYCL1), transcript variant 2, mRNA. 191 nucleus DNA binding|sequence-specific DNA binding transcription factor activity liver(1)|lung(1) 2 all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TCTGCTCGCACCGTGATGGTG 0.502000 A small cell lung 88 10 0 0 1 0 0 C11orf41 25758 broad.mit.edu 37 11 33682473 33682473 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:33682473C>T uc021qfs.1 + 18 5305 c.5181C>T c.(5179-5181)ttC>ttT p.F1727F NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA. 1727 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 52 CCGGCTACTTCATCCCAACGC 0.572000 17 4 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111785406 111785406 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:111785406C>T uc001tsa.2 + 21 3892 c.3738C>T c.(3736-3738)atC>atT p.I1246I NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 1246 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GTCCTGGAATCCTACCGCCAG 0.652000 80 5 0 0 1 0 0 GFRA3 2676 broad.mit.edu 37 5 137593450 137593450 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:137593450G>A uc003lcn.3 - 3 803 c.663C>T c.(661-663)gcC>gcT p.A221A GFRA3_uc003lco.3_Silent_p.A190A NM_001496 NP_001487 O60609 GFRA3_HUMAN Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA. 221 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GGTCGTTGGGGGCACATGGGC 0.726000 37 7 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130919295 130919295 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:130919295G>A uc001uil.2 - 10 2402 c.2186C>T c.(2185-2187)tCt>tTt p.S729F RIMBP2_uc001uim.3_Missense_Mutation_p.S637F NM_015347 NP_056162 O15034 RIMB2_HUMAN Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA. 729 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GCCAAGTTCAGAGCCTTTCAG 0.667000 130 7 0 0 1 0 0 ZNF592 9640 broad.mit.edu 37 15 85326413 85326413 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:85326413C>T uc002bld.3 + 3 843 c.507C>T c.(505-507)ttC>ttT p.F169F ZNF592_uc010upb.2_Non-coding_Transcript NM_014630 NP_055445 Q92610 ZN592_HUMAN Homo sapiens zinc finger protein 592 (ZNF592), mRNA. 169 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) ACAGTTATTTCCCACCCCCTC 0.512000 146 12 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9047995 9047995 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9047995G>A uc002mkp.3 - 4 33840 c.33636C>T c.(33634-33636)gtC>gtT p.V11212V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11214 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGAACTAGTGACCAGTGAAG 0.488000 10 4 0 0 1 0 0 RNF141 50862 broad.mit.edu 37 11 10546848 10546848 + Missense_Mutation SNP C G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:10546848C>G uc001mis.1 - 3 478 c.325G>C c.(325-327)Gat>Cat p.D109H RNF141_uc009yga.1_Non-coding_Transcript NM_016422 NP_057506 Q8WVD5 RN141_HUMAN Homo sapiens ring finger protein 141 (RNF141), mRNA. 109 zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1) 9 all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064) CTTGTGATATCTTTATAAAGT 0.378000 42 4 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106431444 106431444 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:106431444G>A uc003ymd.3 + 1 136 c.113G>A c.(112-114)gGa>gAa p.G38E NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 38 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) ATCTCCAAAGGAGACTTTCCA 0.423000 19 3 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9020092 9020092 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9020092C>T uc002mkp.3 - 20 37607 c.37403G>A c.(37402-37404)aGc>aAc p.S12468N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12470 SEA 3. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGTCCAGGGCTTTTGGGGTC 0.542000 58 16 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129147377 129147377 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:129147377C>T uc022cdu.1 + 2 673 c.629C>T c.(628-630)tCg>tTg p.S210L BCORL1_uc010nrd.1_Missense_Mutation_p.S112L NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA. 210 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 GCTCCCGGTTCGGCCTCTGTG 0.617000 80 10 0 0 1 0 0 UBA3 9039 broad.mit.edu 37 3 69105771 69105771 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:69105771C>T uc003dno.3 - 13 1095 c.1075G>A c.(1075-1077)Gaa>Aaa p.E359K UBA3_uc003dnq.3_Missense_Mutation_p.E345K|UBA3_uc011bfy.2_Missense_Mutation_p.E182K|UBA3_uc011bfz.2_Missense_Mutation_p.E182K NM_003968 NP_003959 Q8TBC4 UBA3_HUMAN Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA. 359 protein neddylation|proteolysis nucleus ATP binding|acid-amino acid ligase activity|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) ACCTTTCTTTCTGCTTCAAAT 0.279000 55 9 0 0 1 0 0 GPR20 2843 broad.mit.edu 37 8 142367603 142367603 + Missense_Mutation SNP G A A rs150581192 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:142367603G>A uc022bby.1 - 0 421 c.421C>T c.(421-423)Ctc>Ttc p.L141F GPR20_uc003ywf.3_Missense_Mutation_p.L141F NM_005293 NP_005284 Q99678 GPR20_HUMAN Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA. 141 integral to plasma membrane G-protein coupled receptor activity p.F140F(1) NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 15 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) ATGCAGGTGAGGAAGAGGATG 0.677000 30 4 0 0 1 0 0 CDK18 5129 broad.mit.edu 37 1 205495302 205495302 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:205495302G>A uc001hcr.3 + 5 918 c.656G>A c.(655-657)cGa>cAa p.R219Q CDK18_uc010pri.2_Silent_p.P209P|CDK18_uc001hcp.3_Missense_Mutation_p.R189Q|CDK18_uc001hcq.3_Missense_Mutation_p.R189Q|CDK18_uc010prj.2_Missense_Mutation_p.R100Q|CDK18_uc001hcs.3_Missense_Mutation_p.R100Q|CDK18_uc009xbm.1_Missense_Mutation_p.R100Q NM_212503 NP_997668 Q07002 CDK18_HUMAN Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA. 187 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 ACTGCCATCCGAGAGGGTACA 0.627000 22 5 0 0 1 0 0 FAM129A 116496 broad.mit.edu 37 1 184777334 184777334 + Silent SNP G A A rs149201304 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:184777334G>A uc001gra.3 - 9 1403 c.1209C>T c.(1207-1209)tcC>tcT p.S403S FAM129A_uc001grb.1_Silent_p.S166S|FAM129A_uc009wyh.1_Silent_p.S231S|FAM129A_uc009wyi.1_Silent_p.S201S NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA. 403 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 CCATCTTCACGGAATGCAGCG 0.468000 43 6 0 0 1 0 0 DHRS7B 25979 broad.mit.edu 37 17 21086927 21086928 + Missense_Mutation DNP CT TA TA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:21086927_21086928CT>TA uc002gyo.3 + 3 374_375 c.330_331CT>TA c.(328-333)tacttg>taTAtg p.L111M NM_015510 NP_056325 Q6IAN0 DRS7B_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 7B (DHRS7B), mRNA. 111 integral to membrane|peroxisomal membrane binding|oxidoreductase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2) 7 ACAAGCCTTACTTGGTGACCTT 0.500000 31 4 0 0 1 0 0 TMEM182 130827 broad.mit.edu 37 2 103431343 103431343 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:103431343C>T uc010fjb.3 + 4 793 c.606C>T c.(604-606)ttC>ttT p.F202F TMEM182_uc002tcc.4_Silent_p.F159F|TMEM182_uc002tcd.4_Silent_p.F106F|TMEM182_uc010ywe.2_Non-coding_Transcript NM_144632 NP_653233 Q6ZP80 TM182_HUMAN Homo sapiens transmembrane protein 182 (TMEM182), mRNA. 202 integral to membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 GGTCATTTTTCCTGGCCCCAG 0.448000 13 8 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26761339 26761339 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:26761339G>A uc003acb.3 + 13 2796 c.2600_splice c.e13-1 p.S867_splice SEZ6L_uc003acd.3_Splice_Site_p.T803_splice|SEZ6L_uc011akd.2_Splice_Site_p.S867_splice|SEZ6L_uc003ace.3_Intron|SEZ6L_uc011akc.2_Splice_Site_p.S867_splice|SEZ6L_uc003acc.3_Splice_Site_p.S867_splice|SEZ6L_uc003acf.1_Splice_Site_p.S640_splice|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.2_Splice_Site NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 867 Sushi 4. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GCATTTCAGCGGAGGAGTCCC 0.532000 127 6 0 0 1 0 0 SLC30A9 10463 broad.mit.edu 37 4 42065035 42065035 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:42065035C>T uc003gwl.3 + 10 1075 c.929C>T c.(928-930)tCg>tTg p.S310L SLC30A9_uc011byx.2_Missense_Mutation_p.S70L NM_006345 NP_006336 Q6PML9 ZNT9_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA. 310 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity p.S310S(1) central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TATATTTCTTCGCTAATTAGT 0.348000 70 8 0 0 1 0 0 GYLTL1B 120071 broad.mit.edu 37 11 45945067 45945067 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:45945067G>A uc001nbv.1 + 2 440 c.329G>A c.(328-330)cGa>cAa p.R110Q GYLTL1B_uc001nbw.1_Missense_Mutation_p.R79Q|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R110Q NM_152312 NP_689525 Q8N3Y3 LARG2_HUMAN Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA. 110 muscle cell homeostasis Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(35;0.226) AACTCCAGCCGAGACGTCATC 0.642000 97 13 0 0 1 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18066487 18066487 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:18066487C>T uc003stz.3 - 0 1000 c.919G>A c.(919-921)Gaa>Aaa p.E307K NM_175886 NP_787082 P21108 PRPS3_HUMAN Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA. 307 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) GAAACAGATTCCCCATTATGA 0.348000 161 40 0 0 1 0 0 BTBD10 84280 broad.mit.edu 37 11 13466629 13466629 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:13466629G>A uc001mkz.3 - 1 300 c.43C>T c.(43-45)Cca>Tca p.P15S BTBD10_uc009ygn.3_Non-coding_Transcript|BTBD10_uc010rcm.2_Intron|BTBD10_uc009ygo.3_Intron NM_032320 NP_115696 Q9BSF8 BTBDA_HUMAN Homo sapiens BTB (POZ) domain containing 10 (BTBD10), mRNA. 15 nucleus cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) CAATTCTCTGGATCACTGGAG 0.438000 35 4 0 0 1 0 0 CRIPT 9419 broad.mit.edu 37 2 46851359 46851359 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:46851359C>T uc002rve.3 + 4 396 c.299C>T c.(298-300)tCt>tTt p.S100F NM_014171 NP_054890 Q9P021 CRIPT_HUMAN Homo sapiens cysteine-rich PDZ-binding protein (CRIPT), mRNA. 100 PDZ3-binding.|Sufficient for interaction with DLG4. cell junction|cytoplasm|dendritic spine kidney(1)|large_intestine(1)|lung(2) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) AAGCAAACATCTGTCTAGATG 0.328000 26 16 0 0 1 0 0 BCL6B 255877 broad.mit.edu 37 17 6927965 6927965 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:6927965G>A uc010clt.1 + 3 709 c.647G>A c.(646-648)aGa>aAa p.R216K BCL6B_uc002geg.2_Missense_Mutation_p.R216K NM_181844 NP_862827 Q8N143 BCL6B_HUMAN Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA. 216 nucleus zinc ion binding skin(1) 1 GTCGGGGAGAGAAGTTCTGGT 0.597000 75 11 0 0 1 0 0 DPP9 91039 broad.mit.edu 37 19 4704291 4704291 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:4704291G>A uc002mba.3 - 5 710 c.452C>T c.(451-453)tCt>tTt p.S151F NM_139159 NP_631898 Q86TI2 DPP9_HUMAN Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA. 122 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) CTCCTCCCGAGAGTAGACCCC 0.642000 112 19 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2969707 2969707 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:2969707G>A uc003smv.3 - 12 1905 c.1571_splice c.e12-1 p.A524_splice NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 524 T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CGTGCCCCTTGGCTGTCCTCA 0.607000 Mis DLBCL 52 6 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64108130 64108130 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:64108130G>A uc001nzy.3 + 1 161 c.112G>A c.(112-114)Gaa>Aaa p.E38K CCDC88B_uc009ypo.2_Missense_Mutation_p.E38K|CCDC88B_uc001nzz.1_5'Flank NM_032251 NP_115627 A6NC98 CC88B_HUMAN Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA. 38 Poly-Glu. microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ggagggggaagaagaggaaga 0.662000 71 6 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47309289 47309289 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:47309289G>A uc002xtw.1 - 7 980 c.957C>T c.(955-957)tcC>tcT p.S319S NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA. 319 PH. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) AGCCGTTGATGGATTTGGTCC 0.537000 92 10 0 0 1 0 0 ZNF415 55786 broad.mit.edu 37 19 53612707 53612707 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:53612707G>A uc002qax.3 - 6 1084 c.735C>T c.(733-735)ttC>ttT p.F245F ZNF415_uc010yds.2_Silent_p.F197F|ZNF415_uc010ydt.2_Silent_p.F197F|ZNF415_uc002qau.3_Silent_p.F184F|ZNF415_uc002qav.3_Silent_p.F209F|ZNF415_uc002qaw.3_Silent_p.F197F|ZNF415_uc002qay.3_Silent_p.F184F|ZNF415_uc002qaz.3_Silent_p.F245F|ZNF415_uc002qba.3_5'UTR Q09FC8 ZN415_HUMAN Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA. 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) AAGAACAGATGAAATCAGTCC 0.378000 48 8 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590499 140590499 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140590499C>T uc003liz.3 + 0 2209 c.2020C>T c.(2020-2022)Ccg>Tcg p.P674S PCDHB12_uc011dak.2_Missense_Mutation_p.P337S NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 674 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGCCTCTCCCGGAGGCGGC 0.692000 70 17 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76455254 76455254 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:76455254G>A uc010dhp.2 - 60 9815 c.9690C>T c.(9688-9690)ttC>ttT p.F3230F DNAH17_uc002jvs.3_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGGAGCGGATGAACTCGGGGT 0.657000 384 20 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40979300 40979300 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:40979300C>T uc002xkg.3 - 10 2017 c.1833G>A c.(1831-1833)ctG>ctA p.L611L PTPRT_uc010ggj.3_Silent_p.L611L NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 611 Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GAGCGGGTTTCAGCATCACTG 0.532000 47 8 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168265363 168265363 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:168265363C>T uc021zik.1 + 1 431 c.112C>T c.(112-114)Cga>Tga p.R38* MLLT4_uc003qwb.1_Nonsense_Mutation_p.R80*|MLLT4_uc003qwc.2_Nonsense_Mutation_p.R80*|MLLT4_uc021zij.1_Nonsense_Mutation_p.R80*|MLLT4_uc021zil.1_Non-coding_Transcript NM_001040000 NP_001035089 P55196 AFAD_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA. 80 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) GGAGAAATTTCGACCTGATAT 0.453000 T MLL AL 117 22 0 0 1 0 0 KIF17 57576 broad.mit.edu 37 1 21039976 21039976 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:21039976G>A uc001bdr.4 - 2 569 c.451C>T c.(451-453)Ctt>Ttt p.L151F KIF17_uc001bds.4_Missense_Mutation_p.L151F NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA. 151 Kinesin-motor. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TCAGCCCCAAGGAGGTCCCGG 0.582000 17 6 0 0 1 0 0 PARP1 142 broad.mit.edu 37 1 226578131 226578131 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:226578131G>A uc001hqd.4 - 3 768 c.597C>T c.(595-597)ctC>ctT p.L199L NM_001618 NP_001609 P09874 PARP1_HUMAN Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA. 199 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) TGACTCCTGGGAGCTGCTTCT 0.597000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 38 8 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907340 164907340 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:164907340C>T uc003fej.4 - 1 1723 c.1279G>A c.(1279-1281)Gat>Aat p.D427N SLITRK3_uc003fek.3_Missense_Mutation_p.D427N|SLITRK3_uc021xgy.1_Missense_Mutation_p.D427N NM_014926 NP_055741 O94933 SLIK3_HUMAN Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA. 427 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TTCCAAAAATCAGAACGGTAT 0.393000 HNSCC(40;0.11) 25 4 0 0 1 0 0 SMO 6608 broad.mit.edu 37 7 128846132 128846133 + Missense_Mutation DNP GG AC AC rs141792785 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:128846132_128846133GG>AC uc003vor.3 + 4 1342_1343 c.1062_1063GG>AC c.(1060-1065)tcgggc>tcACgc p.G355R SMO_uc003vos.3_Missense_Mutation_p.G30R NM_005631 NP_005622 Q99835 SMO_HUMAN Homo sapiens smoothened, frizzled family receptor (SMO), mRNA. 355 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 AGCCTCTCTCGGGCAAGACCTC 0.574000 Mis skin basal cell 101 5 0 0 1 0 0 GATA3 2625 broad.mit.edu 37 10 8115874 8115874 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:8115874C>T uc001ijz.3 + 5 1780 c.1223C>T c.(1222-1224)tCg>tTg p.S408L GATA3_uc001ika.3_Missense_Mutation_p.S407L NM_001002295 NP_001002295 P23771 GATA3_HUMAN Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA. 407 T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding p.P409fs*>37(5) NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 AGCCACATCTCGCCCTTCAGC 0.602000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 72 9 0 0 1 0 0 GALNT6 11226 broad.mit.edu 37 12 51749712 51749712 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:51749712G>A uc001ryk.2 - 9 1858 c.1633C>T c.(1633-1635)Cgc>Tgc p.R545C GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.R545C|GALNT6_uc001ryj.1_Missense_Mutation_p.R110C NM_007210 NP_009141 Q8NCL4 GALT6_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA. 545 Ricin B-type lectin. protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 ATGTTGTGGCGAAGGTCCCTC 0.542000 73 4 0 0 1 0 0 TATDN2 9797 broad.mit.edu 37 3 10291130 10291130 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:10291130C>T uc011atr.2 + 1 827 c.246C>T c.(244-246)tcC>tcT p.S82S TATDN2_uc003bvg.2_Silent_p.S82S|TATDN2_uc003bvf.3_Silent_p.S82S|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript NM_014760 NP_055575 Q93075 TATD2_HUMAN Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA. 82 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 ACTCCTCCTCCTCCTTCTCCC 0.632000 168 12 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10400425 10400425 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:10400425C>T uc003bvt.3 - 13 2525 c.2086G>A c.(2086-2088)Gaa>Aaa p.E696K ATP2B2_uc003bvv.3_Missense_Mutation_p.E651K|ATP2B2_uc003bvw.3_Missense_Mutation_p.E651K|ATP2B2_uc010hdo.3_Missense_Mutation_p.E401K NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA. 696 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CAGGTGAGTTCGTTGAGGATG 0.657000 36 4 0 0 1 0 0 FAH 2184 broad.mit.edu 37 15 80467379 80467379 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:80467379C>T uc002bfm.2 + 9 1023 c.859C>T c.(859-861)Ctg>Ttg p.L287L FAH_uc002bfn.2_Silent_p.L217L|FAH_uc010bln.1_5'Flank|FAH_uc010blo.1_5'Flank NM_000137 NP_000128 P16930 FAAA_HUMAN Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA. 287 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCTGCCGTATCTGTGCCATGA 0.592000 Tyrosinemia, type 1 114 8 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1094084 1094084 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:1094084G>A uc002qwq.3 + 3 442 c.313G>A c.(313-315)Gaa>Aaa p.E105K SNTG2_uc002qwp.3_Non-coding_Transcript|SNTG2_uc010ewi.3_Intron NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA. 105 PDZ. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex PDZ domain binding|actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) AAAAATATTCGAAGACCAAGC 0.388000 72 5 0 0 1 0 0 DNASE1L3 1776 broad.mit.edu 37 3 58179124 58179124 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:58179124G>A uc003djo.1 - 6 844 c.747C>T c.(745-747)ccC>ccT p.P249P DNASE1L3_uc011bfd.1_Silent_p.P219P|DNASE1L3_uc003djp.1_Silent_p.P249P|DNASE1L3_uc003djq.1_Silent_p.P249P NM_004944 NP_004935 Q13609 DNSL3_HUMAN Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA. 249 DNA catabolic process|apoptosis nucleus DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) TGTTTGACTTGGGAACAACAG 0.433000 50 8 0 0 1 0 0 KY 339855 broad.mit.edu 37 3 134366291 134366291 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:134366291C>T uc010hty.3 - 1 247 c.185G>A c.(184-186)gGa>gAa p.G62E KY_uc011blw.2_Missense_Mutation_p.G62E|KY_uc011blx.2_Missense_Mutation_p.G62E|KY_uc003eqs.1_Missense_Mutation_p.G103E NM_178554 NP_848649 Q8NBH2 KY_HUMAN Homo sapiens kyphoscoliosis peptidase (KY), mRNA. 62 Z disc|cytoskeleton peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 AAAGTCATTTCCTTCTAATTT 0.378000 19 3 0 0 1 0 0 PPP4C 5531 broad.mit.edu 37 16 30094725 30094725 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:30094725C>T uc002dwe.3 + 5 449 c.314C>T c.(313-315)cCt>cTt p.P105L BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.3_Missense_Mutation_p.P105L NM_002720 NP_002711 P60510 PP4C_HUMAN Homo sapiens protein phosphatase 4, catalytic subunit (PPP4C), mRNA. 105 microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination centrosome|nucleus NF-kappaB-inducing kinase activity|metal ion binding|protein binding|protein serine/threonine phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1) 9 GTTCGCTATCCTGATCGCATC 0.622000 94 6 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64604419 64604419 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:64604419C>T uc001obs.4 - 9 1278 c.1278G>A c.(1276-1278)aaG>aaA p.K426K NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA. 426 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 TCAGCTCCACCTTCTCCTGCT 0.642000 72 8 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9075336 9075336 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9075336G>A uc002mkp.3 - 2 12314 c.12110C>T c.(12109-12111)tCc>tTc p.S4037F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4039 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAACCTGGGGAAGAGATAAT 0.483000 43 7 0 0 1 0 0 CSPG5 10675 broad.mit.edu 37 3 47604163 47604163 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:47604163G>A uc003crp.4 - 4 1804 c.1628C>T c.(1627-1629)tCg>tTg p.S543L CSPG5_uc003crm.3_Non-coding_Transcript|CSPG5_uc003crn.3_Missense_Mutation_p.S378L|CSPG5_uc003cro.4_Missense_Mutation_p.S516L|CSPG5_uc021wxh.1_3'UTR|CSPG5_uc021wxi.1_Missense_Mutation_p.S378L|CSPG5_uc011bbb.2_Missense_Mutation_p.S405L NM_001206943 NP_001193872 O95196 CSPG5_HUMAN Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA. 543 cell differentiation|intracellular transport|nervous system development|regulation of growth Golgi-associated vesicle membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction growth factor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) AAGTTTGGGCGACATGGAGTT 0.493000 124 9 0 0 1 0 0 CBLC 23624 broad.mit.edu 37 19 45284534 45284534 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:45284534G>A uc002ozs.3 + 2 634 c.571G>A c.(571-573)Gcc>Acc p.A191T CBLC_uc010ejt.3_Missense_Mutation_p.A191T NM_012116 NP_036248 Q9ULV8 CBLC_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA. 191 Cbl-PTB.|EF-hand-like. cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) AGGCTGCACAGCCCTGGCCTT 0.642000 M AML 536 72 0 0 1 0 0 TMEM51 55092 broad.mit.edu 37 1 15541735 15541735 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:15541735C>T uc001avw.4 + 2 671 c.152C>T c.(151-153)aCc>aTc p.T51I TMEM51_uc010obk.2_Missense_Mutation_p.T51I|TMEM51_uc001avz.3_Missense_Mutation_p.T51I|TMEM51_uc001avy.3_Missense_Mutation_p.T51I|TMEM51_uc001avx.3_Missense_Mutation_p.T51I NM_001136216 NP_060492 Q9NW97 TMM51_HUMAN Homo sapiens transmembrane protein 51 (TMEM51), transcript variant 1, mRNA. 51 integral to membrane breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2) 14 Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751) AGCAACAAGACCGAGGTGGGT 0.627000 159 29 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234847758 234847758 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:234847758C>T uc002vvh.3 + 4 505 c.465C>T c.(463-465)ttC>ttT p.F155F TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Silent_p.F105F|TRPM8_uc002vvj.3_Silent_p.F78F NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA. 155 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CCAAGAACTTCGCCCTGAAGC 0.607000 53 13 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996141 140996141 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:140996141C>T uc004fbt.3 + 3 3275 c.2951C>T c.(2950-2952)tCt>tTt p.S984F MAGEC1_uc010nsl.2_Missense_Mutation_p.S51F|MAGEC1_uc022cfi.1_Missense_Mutation_p.S643F NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 984 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GACCTCACCTCTGAGGGGTGT 0.478000 HNSCC(15;0.026) 58 7 0 0 1 0 0 ETV3L 440695 broad.mit.edu 37 1 157068962 157068962 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:157068962C>T uc001fqq.2 - 1 552 c.267G>A c.(265-267)atG>atA p.M89I NM_001004341 NP_001004341 Q6ZN32 ETV3L_HUMAN Homo sapiens ets variant 3-like (ETV3L), mRNA. 89 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) TGTCATAATTCATCTGTGGTT 0.577000 39 4 0 0 1 0 0 ENGASE 64772 broad.mit.edu 37 17 77076405 77076405 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:77076405C>T uc002jwv.3 + 4 690 c.682C>T c.(682-684)Cgt>Tgt p.R228C ENGASE_uc002jwu.1_Missense_Mutation_p.R228C|ENGASE_uc010wtz.1_Missense_Mutation_p.R42C|ENGASE_uc002jww.3_5'UTR NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA. 228 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity p.R228H(1) breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 TCAGTTTTTTCGTTTTGATGG 0.607000 55 12 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3328936 3328936 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:3328936C>T uc001akf.3 + 8 2257 c.2175C>T c.(2173-2175)ttC>ttT p.F725F PRDM16_uc001ake.3_Silent_p.F725F|PRDM16_uc009vlh.3_Silent_p.F426F|PRDM16_uc001akc.3_Silent_p.F725F NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 725 Interaction with CTBP1 and CTBP2 (By similarity). brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding p.A724S(1) breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) ACTCGGCGTTCCCCTTCCAGT 0.617000 T EVI1 """MDS, AML""" 57 11 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65342667 65342667 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:65342667T>C uc003dmn.3 - 22 4301 c.3775A>G c.(3775-3777)Aag>Gag p.K1259E MAGI1_uc003dmm.3_3'UTR NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA. 1288 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TGTGCCCGCTTTTCCCCATGT 0.582000 111 6 0 0 1 0 0 INCENP 3619 broad.mit.edu 37 11 61906362 61906362 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:61906362C>T uc001nsw.1 + 6 1378 c.1176C>T c.(1174-1176)gtC>gtT p.V392V INCENP_uc009ynw.1_Silent_p.V392V|INCENP_uc001nsx.1_Silent_p.V392V NM_001040694 NP_001035784 Q9NQS7 INCE_HUMAN Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA. 392 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 TTCCACAGGTCCCTGAGAACA 0.587000 107 9 0 0 1 0 0 SLC7A4 6545 broad.mit.edu 37 22 21385312 21385312 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:21385312G>A uc002zud.3 - 1 858 c.790C>T c.(790-792)Cca>Tca p.P264S SLC7A4_uc002zue.3_Missense_Mutation_p.P264S NM_004173 NP_004164 O43246 CTR4_HUMAN Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA. 264 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2) 18 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GACCGCCGTGGGTTCTGGGCC 0.627000 37 5 0 0 1 0 0 MAPK8IP2 23542 broad.mit.edu 37 22 51040272 51040272 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:51040272C>T uc003bmx.3 + 1 237 c.120C>T c.(118-120)atC>atT p.I40I MAPK8IP2_uc003bmy.3_5'Flank NM_012324 NP_036456 Q13387 JIP2_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA. 40 MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGTCTGAGATCACTGATGACT 0.562000 78 9 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92532833 92532833 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:92532833C>T uc001pdj.4 + 8 6671 c.6654C>T c.(6652-6654)atC>atT p.I2218I NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 2218 Cadherin 20. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCCAAGGCATCATATATATCA 0.403000 TCGA Ovarian(4;0.039) 114 15 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117335656 117335656 + Splice_Site SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:117335656A>T uc001prh.1 - 17 3447 c.3445_splice c.e17+1 p.V1149_splice NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 1089 Fibronectin type-III 3. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TGGGGCCCTCACCATCCTCCA 0.632000 28 3 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70679469 70679469 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:70679469G>A uc004dzu.4 + 35 5180 c.5129G>A c.(5128-5130)aGt>aAt p.S1710N BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.S1731N|TAF1_uc004dzv.4_Missense_Mutation_p.S918N|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_Missense_Mutation_p.S135N|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript|TAF1_uc004dzw.1_Non-coding_Transcript|TAF1_uc010nlg.1_Non-coding_Transcript NM_138923 NP_620278 P21675 TAF1_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA. 1710 Asp/Glu-rich (acidic tail).|Protein kinase 2. G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) CCTCAAGCCAGTGTCCTGTAT 0.468000 31 11 0 0 1 0 0 KPNA6 23633 broad.mit.edu 37 1 32636340 32636340 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:32636340G>A uc010ogy.2 + 13 1498 c.1471G>A c.(1471-1473)Gag>Aag p.E491K KPNA6_uc001bug.3_Missense_Mutation_p.E486K|KPNA6_uc001buh.3_Missense_Mutation_p.E261K|KPNA6_uc010ogx.2_Missense_Mutation_p.E483K NM_012316 NP_036448 O60684 IMA7_HUMAN Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA. 486 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding large_intestine(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CCAGAGCCACGAGAACCAGGA 0.478000 59 15 0 0 1 0 0 NOX1 27035 broad.mit.edu 37 X 100104391 100104391 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:100104391C>T uc004egj.3 - 10 1527 c.1321G>A c.(1321-1323)Gag>Aag p.E441K NOX1_uc004egl.4_Intron|NOX1_uc010nne.3_Missense_Mutation_p.E404K NM_007052 NP_008983 Q9Y5S8 NOX1_HUMAN Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA. 441 Interaction with NOXO1. FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation NADPH oxidase complex|cell junction|early endosome|invadopodium membrane Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 GCACCTGTCTCCCTGCAGATC 0.438000 10 4 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657514 72657514 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:72657514C>T uc003txs.1 - 12 2398 c.1470G>A c.(1468-1470)aaG>aaA p.K490K FKBP6_uc003twz.2_Intron Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA. cgtatttcgtcttcaggaccg 0.502000 199 22 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872921 51872921 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:51872921C>T uc002xwo.3 + 1 3811 c.2924C>T c.(2923-2925)tCg>tTg p.S975L TSHZ2_uc021wex.1_Missense_Mutation_p.S972L NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 975 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TCCCGGGTATCGTCGGCTCAG 0.493000 42 5 0 0 1 0 0 RUFY4 285180 broad.mit.edu 37 2 218947900 218947900 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:218947900G>A uc010fvl.2 + 10 1941 c.1423G>A c.(1423-1425)Gat>Aat p.D475N RUFY4_uc002vgw.3_Missense_Mutation_p.D302N NM_198483 NP_940885 Q6ZNE9 RUFY4_HUMAN Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA. 475 metal ion binding endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TGAGAGGAGGGATGCCATGTA 0.597000 67 6 0 0 1 0 0 DCN 1634 broad.mit.edu 37 12 91552125 91552125 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:91552125G>A uc001tbt.3 - 3 740 c.486C>T c.(484-486)atC>atT p.I162I DCN_uc001tbo.3_Intron|DCN_uc001tbp.3_Intron|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Silent_p.I162I NM_133503 NP_598010 P07585 PGS2_HUMAN Homo sapiens decorin (DCN), transcript variant A2, mRNA. 162 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 GCACTTTGGTGATCTCATTCT 0.383000 109 7 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44067273 44067273 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:44067273G>A uc002ijr.4 + 7 1534 c.1212G>A c.(1210-1212)ttG>ttA p.L404L MAPT_uc010dau.3_Silent_p.L404L|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron NM_016835 NP_058519 P10636 TAU_HUMAN Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA. 404 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) CTAAAACCTTGAAAAATAGGC 0.463000 190 34 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140406788 140406788 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:140406788G>A uc003eto.2 + 2 1470 c.1264G>A c.(1264-1266)Gag>Aag p.E422K NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN Homo sapiens tripartite motif containing 42 (TRIM42), mRNA. 422 intracellular zinc ion binding p.N421S(1)|p.N421I(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GAAAGTGAACGAGATGGATGG 0.478000 12 4 0 0 1 0 0 MFSD5 84975 broad.mit.edu 37 12 53646906 53646906 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:53646906C>T uc001sch.2 + 1 755 c.608C>T c.(607-609)tCc>tTc p.S203F MFSD5_uc001sci.2_Missense_Mutation_p.S96F|MFSD5_uc021qye.1_Missense_Mutation_p.S96F NM_001170790 NP_116278 Q6N075 MFSD5_HUMAN Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA. 96 transport integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1) 16 CTAGTGGCCTCCTCCCTTGTG 0.478000 292 30 0 0 1 0 0 KAT2A 2648 broad.mit.edu 37 17 40269426 40269426 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:40269426G>A uc002hyx.2 - 9 1677 c.1617C>T c.(1615-1617)atC>atT p.I539I NM_021078 NP_066564 Q92830 KAT2A_HUMAN Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA. 539 N-acetyltransferase. chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 CGAGGCGGGCGATATACTCCT 0.627000 48 4 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525921 176525921 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:176525921G>A uc001gkz.3 + 1 1627 c.463G>A c.(463-465)Gag>Aag p.E155K PAPPA2_uc001gky.1_Missense_Mutation_p.E155K|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 155 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AAGATCCAAGGAGTCTCTAGG 0.542000 69 4 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52365244 52365244 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:52365244C>T uc011bef.2 + 6 1213 c.952C>T c.(952-954)Ctg>Ttg p.L318L DNAH1_uc003ddt.1_Silent_p.L318L NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 318 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GAAGCTATACCTGGTACACAA 0.552000 18 3 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848925 73848925 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:73848925G>A uc003xzb.3 + 2 1923 c.1335G>A c.(1333-1335)agG>agA p.R445R NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 445 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GGGCCAAAAGGAACGGAAGCA 0.448000 57 13 0 0 1 0 0 SULT1C4 27233 broad.mit.edu 37 2 108994898 108994898 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:108994898G>A uc002tea.1 + 0 478 c.105G>A c.(103-105)tgG>tgA p.W35* SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Nonsense_Mutation_p.W35* NM_006588 NP_006579 O75897 ST1C4_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA. 35 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 GTGACATCTGGGATAAGATCT 0.473000 126 21 0 0 1 0 0 ARNT2 9915 broad.mit.edu 37 15 80845037 80845037 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:80845037C>T uc002bfr.3 + 9 1177 c.1011C>T c.(1009-1011)ttC>ttT p.F337F ARNT2_uc010unm.2_Silent_p.F326F|ARNT2_uc002bfs.3_Silent_p.F326F NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA. 337 PAS 2. central nervous system development|in utero embryonic development|response to hypoxia DNA binding|aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) CCACAGAGTTCTTATCCCGGC 0.493000 46 7 0 0 1 0 0 TACC3 10460 broad.mit.edu 37 4 1746292 1746292 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:1746292C>T uc003gdo.3 + 13 2426 c.2271C>T c.(2269-2271)atC>atT p.I757I TACC3_uc003gdp.3_Silent_p.I397I NM_006342 NP_006333 Q9Y6A5 TACC3_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA. 757 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) TGGCAAGGATCACCCAGGAGG 0.612000 35 6 0 0 1 0 0 RASSF4 83937 broad.mit.edu 37 10 45487413 45487413 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:45487413G>A uc001jbp.3 + 8 2510 c.961G>A c.(961-963)Gaa>Aaa p.E321K RASSF4_uc001jbo.3_Missense_Mutation_p.E290K|RASSF4_uc009xmn.3_Missense_Mutation_p.E220K|RASSF4_uc001jbq.3_Missense_Mutation_p.E187K|RASSF4_uc001jbt.3_Missense_Mutation_p.E247K Q9H2L5 RASF4_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA. 290 cell cycle|signal transduction protein binding NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 AAAATTAAAAGAAGAGGAAGA 0.388000 73 9 0 0 1 0 0 ENGASE 64772 broad.mit.edu 37 17 77079887 77079887 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:77079887C>T uc002jwv.3 + 9 1304 c.1296C>T c.(1294-1296)atC>atT p.I432I ENGASE_uc002jww.3_Silent_p.I138I NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA. 432 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 CCCAGGAGATCCAGCCCTTGT 0.657000 67 25 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30706323 30706323 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:30706323C>T uc003xil.3 - 0 211 c.211G>A c.(211-213)Gag>Aag p.E71K TEX15_uc011lbc.2_Missense_Mutation_p.E458K NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 71 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TGCAAAACCTCATTTAAGCCT 0.408000 42 4 0 0 1 0 0 RHBG 57127 broad.mit.edu 37 1 156354372 156354372 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:156354372G>A uc010pho.2 + 9 1326 c.1288G>A c.(1288-1290)Gag>Aag p.E430K RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Missense_Mutation_p.R361Q|RHBG_uc009wrz.3_Missense_Mutation_p.R398Q|RHBG_uc001for.3_Missense_Mutation_p.R400Q NM_020407 NP_065140 Q9H310 RHBG_HUMAN Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA. 0 transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding p.L429R(1) endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) CCAGCACTACGAGGACCAAGT 0.617000 OREG0013871 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 5 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48680181 48680181 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:48680181G>A uc002irk.1 + 20 4288 c.3916_splice c.e20-1 p.E1306_splice CACNA1G_uc002iri.1_Splice_Site_p.E1306_splice|CACNA1G_uc002irj.1_Splice_Site_p.E1283_splice|CACNA1G_uc002irl.1_Splice_Site_p.E1283_splice|CACNA1G_uc002irm.1_Splice_Site_p.E1283_splice|CACNA1G_uc002irn.1_Splice_Site_p.E1283_splice|CACNA1G_uc002iro.1_Splice_Site_p.E1283_splice|CACNA1G_uc002irp.1_Splice_Site_p.E1306_splice|CACNA1G_uc002irq.1_Splice_Site_p.E1283_splice|CACNA1G_uc002irr.1_Splice_Site_p.E1306_splice|CACNA1G_uc002irs.1_Splice_Site_p.E1306_splice|CACNA1G_uc002irt.1_Splice_Site_p.E1306_splice|CACNA1G_uc002iru.1_Splice_Site_p.E1283_splice|CACNA1G_uc002irv.1_Splice_Site_p.E1306_splice|CACNA1G_uc002irw.1_Splice_Site_p.E1283_splice|CACNA1G_uc002irx.1_Splice_Site_p.E1219_splice|CACNA1G_uc002iry.1_Splice_Site_p.E1219_splice|CACNA1G_uc002isg.1_Splice_Site_p.E1219_splice|CACNA1G_uc002ish.1_Splice_Site_p.E1219_splice|CACNA1G_uc002isi.1_Splice_Site_p.E1196_splice|CACNA1G_uc002irz.1_Splice_Site_p.E1219_splice|CACNA1G_uc002isa.1_Splice_Site_p.E1219_splice|CACNA1G_uc002isd.1_Splice_Site_p.E1219_splice|CACNA1G_uc002isb.1_Splice_Site_p.E1219_splice|CACNA1G_uc002isc.1_Splice_Site_p.E1219_splice|CACNA1G_uc002ise.1_Splice_Site_p.E1219_splice|CACNA1G_uc002isf.1_Splice_Site_p.E1219_splice|CACNA1G_uc002isj.3_Splice_Site_p.E30_splice NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 1306 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TCTCTTGCAGGAACGCATCTT 0.552000 37 4 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50599252 50599252 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:50599252C>T uc003bjj.3 + 24 3543 c.3460C>T c.(3460-3462)Cga>Tga p.R1154* MOV10L1_uc003bjk.4_Intron|MOV10L1_uc011arp.2_Nonsense_Mutation_p.R1134*|MOV10L1_uc003bjl.3_Nonsense_Mutation_p.R281* NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA. 1154 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding p.R1154*(2)|p.R1154Q(1) breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) TGTTCTCGTTCGAGTGAGTTT 0.507000 71 6 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34090197 34090197 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:34090197G>A uc001bxm.1 - 34 5724 c.5547C>T c.(5545-5547)tcC>tcT p.S1849S CSMD2_uc001bxn.1_Silent_p.S1809S|CSMD2_uc001bxo.1_Silent_p.S722S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1809 CUB 11. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGAAGCCAGGGGACAGGATGG 0.657000 84 14 0 0 1 0 0 ZNF557 79230 broad.mit.edu 37 19 7082959 7082959 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:7082959C>T uc002mga.3 + 7 982 c.497C>T c.(496-498)tCc>tTc p.S166F ZNF557_uc002mgb.3_Missense_Mutation_p.S159F|ZNF557_uc002mgc.3_Missense_Mutation_p.S166F NM_024341 NP_077317 Q8N988 ZN557_HUMAN Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA. 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 Lung(535;0.179) ACAAAATCTTCCCTTACACGG 0.408000 14 6 0 0 1 0 0 C15orf29 79768 broad.mit.edu 37 15 34445233 34445233 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:34445233G>A uc001zhp.3 - 3 356 c.196C>T c.(196-198)Cgt>Tgt p.R66C C15orf29_uc010ubz.2_5'UTR|C15orf29_uc010uca.1_Missense_Mutation_p.R66C NM_024713 NP_078989 Q9H079 CO029_HUMAN Homo sapiens chromosome 15 open reading frame 29 (C15orf29), mRNA. 66 nucleolus kidney(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 5 all_lung(180;1.86e-06) all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229) ATCACTTTACGAAGTTTATCT 0.348000 57 11 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33397598 33397598 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:33397598C>T uc003tdn.1 + 15 2197 c.1684C>T c.(1684-1686)Ctc>Ttc p.L562F BBS9_uc003tdo.1_Missense_Mutation_p.L527F|BBS9_uc003tdp.1_Missense_Mutation_p.L557F|BBS9_uc003tdq.1_Missense_Mutation_p.L522F|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Missense_Mutation_p.L86F|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Missense_Mutation_p.L440F NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA. 562 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding p.L562L(1) BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TCTTCTTAGTCTCTTCCCAGG 0.383000 Bardet-Biedl syndrome 11 4 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38317994 38317994 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:38317994C>T uc003aui.3 + 5 860 c.585C>T c.(583-585)tcC>tcT p.S195S NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN Homo sapiens MICAL-like 1 (MICALL1), mRNA. 195 LIM zinc-binding. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) GGCGGTGCTCCAGCACCCTGC 0.677000 93 5 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 476448 476448 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:476448C>T uc003jbe.2 - 12 2048 c.1936G>A c.(1936-1938)Gag>Aag p.E646K SLC9A3_uc011clx.1_Missense_Mutation_p.E637K|BC013821_uc011cly.2_5'Flank NM_004174 NP_004165 P48764 SL9A3_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA. 646 Interaction with PDZD3 (By similarity). cell surface|integral to membrane sodium:hydrogen antiporter activity p.D645D(1) NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TCCTGTTTCTCGTCCTCCGTG 0.612000 81 21 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529719 5529719 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:5529719C>T uc021qcw.1 - 0 1070 c.1070G>A c.(1069-1071)gGa>gAa p.G357E HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.G357E NM_017481 NP_059509 Q9H347 UBQL3_HUMAN Homo sapiens ubiquilin 3 (UBQLN3), mRNA. 357 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAGATAAGTTCCTAGGGACTG 0.493000 109 10 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117175451 117175451 + Missense_Mutation SNP G A A rs121908804 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:117175451G>A uc003vjd.3 + 5 861 c.729G>A c.(727-729)atG>atA p.M243I CFTR_uc011knq.2_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 243 ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding p.M243I(2) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TAGGGAGAATGATGATGAAGT 0.423000 Cystic Fibrosis 15 4 0 0 1 0 0 RGP1 9827 broad.mit.edu 37 9 35751721 35751721 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:35751721C>T uc011lpf.2 + 6 880 c.732C>T c.(730-732)aaC>aaT p.N244N GBA2_uc003zxw.3_5'Flank|GBA2_uc011lpd.2_5'Flank|GBA2_uc011lpb.1_5'Flank|GBA2_uc011lpc.1_5'Flank|DQ589555_uc022bgn.1_5'Flank NM_001080496 NP_001073965 Q92546 RGP1_HUMAN Homo sapiens RGP1 retrograde golgi transport homolog (S. cerevisiae) (RGP1), mRNA. 244 cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GGACCTTAAACTTAGGGGAAG 0.517000 89 5 0 0 1 0 0 LCE1A 353131 broad.mit.edu 37 1 152800278 152800278 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152800278C>T uc010pdw.2 + 0 330 c.330C>T c.(328-330)tgC>tgT p.C110C NM_178348 NP_848125 Q5T7P2 LCE1A_HUMAN Homo sapiens late cornified envelope 1A (LCE1A), mRNA. 110 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GAGGCTGCTGCTGAAGCGGAC 0.617000 16 3 0 0 1 0 0 LPAL2 80350 broad.mit.edu 37 6 160913865 160913865 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:160913865G>A uc003qtj.2 - 2 c.456C>T LPAL2_uc011efy.2_Non-coding_Transcript Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA. large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) TCAGAGGCACGAACACAGTCC 0.507000 28 4 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140220999 140220999 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140220999C>T uc003lhs.2 + 0 93 c.93C>T c.(91-93)ctC>ctT p.L31L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.L31L NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 44 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGCCAGCTCCACTACTCCG 0.637000 42 10 0 0 1 0 0 BTBD6 90135 broad.mit.edu 37 14 105716968 105716968 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:105716968G>A uc010tyq.2 + 4 1525 c.1417G>A c.(1417-1419)Gtc>Atc p.V473I BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc001yqp.2_Intron|BRF1_uc010axg.1_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank NM_033271 NP_150374 Q96KE9 BTBD6_HUMAN Homo sapiens BTB (POZ) domain containing 6 (BTBD6), mRNA. 473 cytoplasmic mRNA processing body endometrium(1)|lung(3) 4 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391) Epithelial(152;0.18) CGGGACTGGGGTCCAGGGTGG 0.597000 57 11 0 0 1 0 0 USP22 23326 broad.mit.edu 37 17 20907598 20907598 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:20907598G>A uc002gym.4 - 11 1656 c.1452C>T c.(1450-1452)atC>atT p.I484I USP22_uc002gyn.4_Silent_p.I472I|USP22_uc002gyl.4_Silent_p.I379I NM_015276 NP_056091 Q9UPT9 UBP22_HUMAN Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA. 484 cell cycle|embryo development|histone H4 acetylation|histone deubiquitination|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 15 TGTGCTGCCGGATAAAGCTGG 0.562000 45 5 0 0 1 0 0 ATF6 22926 broad.mit.edu 37 1 161928323 161928323 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:161928323C>T uc001gbs.3 + 15 2009 c.1892C>T c.(1891-1893)tCg>tTg p.S631L NM_007348 NP_031374 P18850 ATF6A_HUMAN Homo sapiens activating transcription factor 6 (ATF6), mRNA. 631 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.S631L(2) breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) ATCAAAAGTTCGTCAGTTCCT 0.517000 66 6 0 0 1 0 0 TEKT2 27285 broad.mit.edu 37 1 36553081 36553081 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:36553081C>T uc001bzr.3 + 7 1024 c.897C>T c.(895-897)caC>caT p.H299H TEKT2_uc001bzs.3_Silent_p.H205H|ADPRHL2_uc001bzt.3_5'Flank NM_014466 NP_055281 Q9UIF3 TEKT2_HUMAN Homo sapiens tektin 2 (testicular) (TEKT2), mRNA. 299 cell projection organization|microtubule cytoskeleton organization actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2) 13 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ACATCCGGCACCTGGAGGAGG 0.622000 29 6 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8994157 8994157 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:8994157C>T uc002mkp.3 - 64 41732 c.41528G>A c.(41527-41529)aGg>aAg p.R13843K MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.R660K|MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13846 SEA 12. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAAGGTCAGCCTGCAGCCAGA 0.527000 29 6 0 0 1 0 0 AGPHD1 123688 broad.mit.edu 37 15 78805750 78805750 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:78805750C>T uc010unc.2 + 1 433 c.320C>T c.(319-321)gCt>gTt p.A107V AGPHD1_uc002bdt.3_Missense_Mutation_p.A107V|AGPHD1_uc010ble.3_Missense_Mutation_p.A107V NM_001013619 NP_001013641 A2RU49 AGPD1_HUMAN Homo sapiens aminoglycoside phosphotransferase domain containing 1 (AGPHD1), transcript variant 1, mRNA. 107 cytoplasm kinase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2) 9 GACAACACAGCTTCTCTCGTG 0.453000 47 8 0 0 1 0 0 TJP3 27134 broad.mit.edu 37 19 3735877 3735877 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:3735877G>A uc010xhv.2 + 8 1170 c.1170G>A c.(1168-1170)agG>agA p.R390R TJP3_uc010xhs.2_Silent_p.R357R|TJP3_uc010xht.2_Silent_p.R321R|TJP3_uc010xhu.2_Silent_p.R366R|TJP3_uc010xhw.2_Silent_p.R376R NM_014428 NP_055243 O95049 ZO3_HUMAN Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA. 371 tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) AGTTGCCCAGGGAAAGCAGCT 0.512000 113 37 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108475843 108475843 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:108475843C>T uc010ywk.2 + 10 1549 c.1467C>T c.(1465-1467)ctC>ctT p.L489L RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 489 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 AGGTATTTCTCCTTGGAGTAG 0.318000 62 8 0 0 1 0 0 SERPINA6 866 broad.mit.edu 37 14 94780446 94780446 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:94780446C>T uc001ycv.3 - 1 644 c.540G>A c.(538-540)ggG>ggA p.G180G SERPINA6_uc010auv.3_Non-coding_Transcript NM_001756 NP_001747 P08185 CBG_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA. 180 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) CGACAATTTTCCCCTGTGTCT 0.478000 57 12 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139207533 139207533 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:139207533C>T uc003yuy.3 - 8 1012 c.841G>A c.(841-843)Gaa>Aaa p.E281K FAM135B_uc003yux.3_Missense_Mutation_p.E182K|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 281 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GAAAGTGTTTCTTCAACAGCA 0.408000 HNSCC(54;0.14) 79 6 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140720293 140720293 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140720293C>T uc003ljk.2 + 0 1940 c.1755C>T c.(1753-1755)ggC>ggT p.G585G PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.G585G NM_018915 NP_061738 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA. 586 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGAGCCCGGCTACCTGGTGA 0.667000 99 8 0 0 1 0 0 XRCC6 2547 broad.mit.edu 37 22 42032201 42032201 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:42032201A>G uc003bao.1 + 3 350 c.280A>G c.(280-282)Aaa>Gaa p.K94E XRCC6_uc003bap.1_Intron|XRCC6_uc011apc.1_Missense_Mutation_p.K44E|XRCC6_uc003bar.2_Missense_Mutation_p.K94E NM_001469 NP_001460 P12956 XRCC6_HUMAN Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 6 (XRCC6), mRNA. 94 DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 31 CGAGAAAGACAAAAATTCAGT 0.333000 Non-homologous end-joining 41 7 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105408933 105408933 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:105408933G>A uc010axc.1 - 6 12975 c.12855C>T c.(12853-12855)tcC>tcT p.S4285S AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.S4185S NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 4285 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGTCGGCTAGGGACAGGTCAC 0.612000 254 28 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49671056 49671056 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:49671056C>T uc002efs.3 - 4 2305 c.2007G>A c.(2005-2007)gaG>gaA p.E669E ZNF423_uc010vgn.2_Silent_p.E552E NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN Homo sapiens zinc finger protein 423 (ZNF423), mRNA. 669 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) AGTCAAAGTCCTCTTTGCACT 0.557000 45 4 0 0 1 0 0 SLC25A14 9016 broad.mit.edu 37 X 129499602 129499602 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:129499602C>T uc004evr.1 + 8 1063 c.891C>T c.(889-891)atC>atT p.I297I SLC25A14_uc010nrg.3_3'UTR|SLC25A14_uc011mut.2_3'UTR|SLC25A14_uc011muu.2_3'UTR|SLC25A14_uc004evp.1_Silent_p.I269I|SLC25A14_uc004evq.1_Silent_p.I266I NM_022810 NP_073721 O95258 UCP5_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA. 269 aerobic respiration|mitochondrial transport integral to plasma membrane|mitochondrial inner membrane binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1) 22 AGAGGGCAATCGTGGGACATG 0.453000 45 4 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75227617 75227617 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:75227617C>T uc003yae.3 - 1 658 c.618G>A c.(616-618)aaG>aaA p.K206K JPH1_uc003yaf.3_Silent_p.K206K|JPH1_uc003yag.1_Silent_p.K70K NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN Homo sapiens junctophilin 1 (JPH1), mRNA. 206 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) CGCCCTTCTTCTTGCCCGCTA 0.652000 71 7 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160106361 160106361 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:160106361G>A uc001fvc.3 + 19 2696 c.2564_splice c.e19-1 p.G855_splice ATP1A2_uc001fvb.2_Splice_Site_p.G855_splice|ATP1A2_uc001fvd.3_Intron NM_000702 NP_000693 P50993 AT1A2_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA. 855 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TACCCACAGGGATGATCCAGG 0.607000 61 4 0 0 1 0 0 MIER2 54531 broad.mit.edu 37 19 307152 307152 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:307152G>A uc002lok.1 - 12 1592 c.1583C>T c.(1582-1584)cCg>cTg p.P528L NM_017550 NP_060020 Q8N344 MIER2_HUMAN Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA. 528 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCGGGGGCCGGGCACGTGGG 0.677000 12 4 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19207416 19207416 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:19207416G>A uc021wle.1 - 17 2972 c.2897C>T c.(2896-2898)tCc>tTc p.S966F CLTCL1_uc021wld.1_Missense_Mutation_p.S966F|CLTCL1_uc021wlc.1_Missense_Mutation_p.S966F|CLTCL1_uc021wlf.1_Missense_Mutation_p.S966F|CLTCL1_uc011agw.1_Missense_Mutation_p.S966F NM_007098 NP_009029 P53675 CLH2_HUMAN Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA. 966 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity p.P965T(1) breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) CTGTCTCCTGGATGGGTTGGT 0.527000 T ? ALCL 70 12 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771980 143771980 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:143771980C>T uc011ktx.2 + 0 668 c.668C>T c.(667-669)gCc>gTc p.A223V NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C222F(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) ATTCTATGTGCCATTCTAAAG 0.478000 77 11 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25789932 25789932 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:25789932C>T uc003gru.4 - 12 2283 c.2131G>A c.(2131-2133)Gaa>Aaa p.E711K SEL1L3_uc003grv.3_Missense_Mutation_p.E118K NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA. 711 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 ATTGCTGCTTCGGGATTCTTG 0.463000 54 6 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144991293 144991293 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:144991293G>A uc003zaf.1 - 31 13277 c.13107C>T c.(13105-13107)ttC>ttT p.F4369F PLEC_uc003zab.1_Silent_p.F4232F|PLEC_uc003zac.1_Silent_p.F4236F|PLEC_uc003zad.2_Silent_p.F4232F|PLEC_uc003zae.1_Silent_p.F4200F|PLEC_uc003zag.1_Silent_p.F4210F|PLEC_uc003zah.2_Silent_p.F4218F|PLEC_uc003zaj.2_Silent_p.F4259F NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 4369 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCATGTCGGCGAACTCGGTGA 0.667000 54 11 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50140113 50140113 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:50140113G>A uc002xwd.3 - 1 887 c.667C>T c.(667-669)Cga>Tga p.R223* NFATC2_uc002xwc.3_Nonsense_Mutation_p.R223*|NFATC2_uc010zyv.2_Nonsense_Mutation_p.R4*|NFATC2_uc010zyw.2_Nonsense_Mutation_p.R4*|NFATC2_uc002xwe.3_Nonsense_Mutation_p.R203*|NFATC2_uc010zyx.2_Nonsense_Mutation_p.R203*|NFATC2_uc010zyy.2_Nonsense_Mutation_p.R4*|NFATC2_uc010zyz.2_Nonsense_Mutation_p.R4* NM_173091 NP_775114 Q13469 NFAC2_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA. 223 3 X approximate SP repeats. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) AGGCTGGTTCGAGGTGACATT 0.647000 171 11 0 0 1 0 0 RGR 5995 broad.mit.edu 37 10 86014139 86014139 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:86014139C>T uc001kdd.1 + 4 620 c.582C>T c.(580-582)ttC>ttT p.F194F RGR_uc001kdc.1_Silent_p.F190F|RGR_uc001kde.1_Silent_p.F190F NM_002921 NP_002912 P47804 RGR_HUMAN Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA. 190 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 17 TGCCCCTCTTCATCACGATCA 0.542000 84 6 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218682840 218682840 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:218682840G>A uc002vgt.2 - 23 4301 c.3903C>T c.(3901-3903)ggC>ggT p.G1301G TNS1_uc002vgr.2_Silent_p.G1288G|TNS1_uc002vgs.2_Silent_p.G1280G|TNS1_uc010zjv.1_Silent_p.G1280G NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN Homo sapiens tensin 1 (TNS1), mRNA. 1301 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CGAGGTGACGGCCCAGGCTGG 0.657000 40 4 0 0 1 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92638124 92638124 + Silent SNP G A A rs12594058 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:92638124G>A uc002bqx.2 + 2 861 c.660G>A c.(658-660)acG>acA p.T220T SLCO3A1_uc002bqy.2_Silent_p.T220T|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.T162T NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA. 220 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) TCCTGTTCACGATGCTGGTAT 0.398000 115 8 0 0 1 0 0 WDR93 56964 broad.mit.edu 37 15 90246318 90246318 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:90246318C>T uc002boj.3 + 2 542 c.441C>T c.(439-441)tcC>tcT p.S147S WDR93_uc002bok.4_Silent_p.S147S|WDR93_uc010bnr.3_Silent_p.S147S NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN Homo sapiens WD repeat domain 93 (WDR93), mRNA. 147 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) ATGTCACTTCCATCTGGGCCA 0.393000 82 6 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32635292 32635292 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:32635292C>T uc003zrg.1 - 0 376 c.286G>A c.(286-288)Gat>Aat p.D96N AX747113_uc003zrh.1_Intron NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 96 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CACCCTTCATCATTTACCAAG 0.512000 115 27 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87138735 87138735 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:87138735G>A uc003uiz.2 - 26 3838 c.3345C>T c.(3343-3345)atC>atT p.I1115I ABCB1_uc011khc.2_Silent_p.I1051I NM_000927 NP_000918 P08183 MDR1_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA. 1115 ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CCTGGGACACGATGCCCAGGT 0.517000 50 7 0 0 1 0 0 SLC26A11 284129 broad.mit.edu 37 17 78196486 78196486 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:78196486C>T uc002jyb.2 + 3 573 c.267C>T c.(265-267)ttC>ttT p.F89F SGSH_uc002jxz.4_5'Flank|SGSH_uc002jya.4_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.2_Silent_p.F89F|SLC26A11_uc002jyd.2_Silent_p.F89F|SLC26A11_uc010dhv.2_Silent_p.F89F NM_173626 NP_775897 Q86WA9 S2611_HUMAN Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA. 89 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TGGGCTGCTTCGTGTATTTCT 0.612000 155 12 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160105381 160105381 + Missense_Mutation SNP G A A rs147183887 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:160105381G>A uc001fvc.3 + 15 2405 c.2273G>A c.(2272-2274)gGg>gAg p.G758E ATP1A2_uc001fvb.2_Missense_Mutation_p.G758E|ATP1A2_uc001fvd.3_Missense_Mutation_p.G494E NM_000702 NP_000693 P50993 AT1A2_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA. 758 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) ATCGTCACGGGGGTGGAGGAG 0.562000 47 7 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117914318 117914318 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:117914318C>T uc001two.2 - 16 2501 c.2446G>A c.(2446-2448)Gag>Aag p.E816K NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 845 Protein kinase. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTATCCTCCTCTGTGTCGGGG 0.612000 7 3 0 0 1 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781871 128781871 + Missense_Mutation SNP C T T rs148462487 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:128781871C>T uc001qet.3 + 1 1017 c.703C>T c.(703-705)Cgg>Tgg p.R235W KCNJ5_uc009zck.3_Missense_Mutation_p.R235W|KCNJ5_uc001qew.3_Missense_Mutation_p.R235W NM_000890 NP_000881 P48544 IRK5_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA. 235 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) GGCCTCCATCCGGGCCAAGCT 0.607000 75 9 0 0 1 0 0 TAF1C 9013 broad.mit.edu 37 16 84216904 84216904 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:84216904G>A uc002fhn.3 - 4 596 c.354C>T c.(352-354)gcC>gcT p.A118A TAF1C_uc010vnz.2_5'UTR|TAF1C_uc002fho.3_5'UTR|TAF1C_uc010voa.2_Intron|TAF1C_uc002fhm.3_Silent_p.A51A|TAF1C_uc010vnx.2_Silent_p.A118A|TAF1C_uc010vny.2_5'UTR|TAF1C_uc010vob.2_Silent_p.A118A NM_005679 NP_001230088 Q15572 TAF1C_HUMAN Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA. 118 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 GGGGCGCAAAGGCTACGTCTC 0.622000 47 8 0 0 1 0 0 SV2B 9899 broad.mit.edu 37 15 91811794 91811794 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:91811794G>A uc002bqv.3 + 9 2223 c.1332G>A c.(1330-1332)atG>atA p.M444I SV2B_uc002bqt.3_Missense_Mutation_p.M444I|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.M293I NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA. 444 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) ACTTCACGATGGAAAATCAGA 0.428000 250 82 0 0 1 0 0 C10orf35 219738 broad.mit.edu 37 10 71392759 71392759 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:71392759C>T uc001jpq.4 + 3 480 c.310C>T c.(310-312)Cgt>Tgt p.R104C NM_145306 NP_660349 Q96D05 CJ035_HUMAN Homo sapiens chromosome 10 open reading frame 35 (C10orf35), mRNA. 104 integral to membrane breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 5 GCTTGGTGTTCGTGGCCTCCT 0.587000 109 7 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40337520 40337520 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:40337520G>A uc003gva.1 + 0 52 c.36G>A c.(34-36)tgG>tgA p.W12* NM_017581 NP_060051 Q9UGM1 ACHA9_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA. 12 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) CCTTTTGCTGGATCTACTTTG 0.507000 39 6 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24187543 24187543 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:24187543G>A uc003xdy.3 + 10 1101 c.1018G>A c.(1018-1020)Gaa>Aaa p.E340K ADAM28_uc003xdx.3_Missense_Mutation_p.E340K|ADAM28_uc011kzz.2_Missense_Mutation_p.E107K|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.E27K NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 340 Peptidase M12B. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AATGGCACATGAAATGGGCCA 0.408000 21 4 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2901637 2901637 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:2901637C>T uc010ckd.3 + 13 1257 c.1167C>T c.(1165-1167)gtC>gtT p.V389V RAP1GAP2_uc010cke.3_Silent_p.V374V NM_015085 NP_055900 Q684P5 RPGP2_HUMAN Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA. 389 Rap-GAP. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity p.V389A(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 TCGTGCAGGTCGAGACCCCAG 0.537000 59 10 0 0 1 0 0 CDCA7L 55536 broad.mit.edu 37 7 21948002 21948002 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:21948002G>A uc010kuk.3 - 3 547 c.427C>T c.(427-429)Cga>Tga p.R143* CDCA7L_uc003sve.4_Nonsense_Mutation_p.R109*|CDCA7L_uc010kul.3_Nonsense_Mutation_p.R97*|CDCA7L_uc003svf.4_Nonsense_Mutation_p.R142* NM_018719 NP_001120842 Q96GN5 CDA7L_HUMAN Homo sapiens cell division cycle associated 7-like (CDCA7L), transcript variant 1, mRNA. 143 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 AAGGCTACTCGAAGACCAATA 0.453000 35 4 0 0 1 0 0 SPEM1 374768 broad.mit.edu 37 17 7324224 7324224 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:7324224G>A uc002ggv.3 + 2 255 c.230G>A c.(229-231)aGa>aAa p.R77K SPEM1_uc010vtw.1_Intron NM_199339 NP_955371 Q8N4L4 SPEM1_HUMAN Homo sapiens spermatid maturation 1 (SPEM1), mRNA. 77 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 12 Prostate(122;0.173) TCATTACTCAGAAAGCAGACC 0.597000 97 6 0 0 1 0 0 ACVR2B 93 broad.mit.edu 37 3 38523742 38523742 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:38523742C>T uc003cif.3 + 8 1152 c.1128C>T c.(1126-1128)ttC>ttT p.F376F ACVR2B_uc003cig.3_Silent_p.F167F NM_001106 NP_001097 Q13705 AVR2B_HUMAN Homo sapiens activin A receptor, type IIB (ACVR2B), mRNA. 376 Protein kinase. BMP signaling pathway|activin receptor signaling pathway|anterior/posterior pattern formation|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent cell surface|cytoplasm|integral to plasma membrane ATP binding|activin receptor activity|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity lung(1) 1 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071) CCATCAACTTCCAGAGAGATG 0.557000 24 3 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100684421 100684421 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:100684421C>T uc003uxp.1 + 2 9777 c.9724C>T c.(9724-9726)Ctt>Ttt p.L3242F MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3242 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GGCTAGCATCCTTTCAACAAC 0.502000 165 26 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127760218 127760218 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:127760218G>A uc001ljk.2 - 11 1573 c.1160C>T c.(1159-1161)cCa>cTa p.P387L ADAM12_uc010qul.1_Missense_Mutation_p.P338L|ADAM12_uc001ljm.3_Missense_Mutation_p.P387L|ADAM12_uc001ljn.3_Missense_Mutation_p.P384L|ADAM12_uc001ljl.4_Missense_Mutation_p.P384L NM_003474 NP_003465 O43184 ADA12_HUMAN Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA. 387 Peptidase M12B. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CATGGGAAATGGGTACCTGAG 0.552000 42 4 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181686297 181686297 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:181686297G>A uc009wxt.3 + 10 1579 c.1384G>A c.(1384-1386)Gaa>Aaa p.E462K CACNA1E_uc001gow.3_Missense_Mutation_p.E462K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E462K NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 462 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCGGCACAAGGAAAGGCTTCT 0.512000 67 9 0 0 1 0 0 DNAJB8 165721 broad.mit.edu 37 3 128181482 128181482 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:128181482C>T uc003ekk.1 - 2 2268 c.607G>A c.(607-609)Ggg>Agg p.G203R DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.G203R NM_153330 NP_699161 Q8NHS0 DNJB8_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA. 203 protein folding heat shock protein binding|unfolded protein binding p.G203W(2) kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) CGCTCCTGCCCGTTCTCCACG 0.612000 63 4 0 0 1 0 0 TIGD3 220359 broad.mit.edu 37 11 65124657 65124657 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:65124657G>A uc021qlj.1 + 0 1378 c.1378G>A c.(1378-1380)Gac>Aac p.D460N TIGD3_uc001odo.4_Missense_Mutation_p.D460N NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA. 460 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 AAAATTCTACGACTGTGAGGA 0.572000 32 7 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126882852 126882852 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:126882852C>T uc003vlr.2 - 0 718 c.407G>A c.(406-408)gGa>gAa p.G136E GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G136E|GRM8_uc010lkz.1_Non-coding_Transcript NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 136 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GGGTGGATCTCCATTAGCACA 0.468000 HNSCC(24;0.065) 25 10 0 0 1 0 0 OR5H15 403274 broad.mit.edu 37 3 97887660 97887660 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:97887660C>T uc011bgu.2 + 0 117 c.117C>T c.(115-117)atC>atT p.I39I NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA. 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 TCATCACCATCATGGGGAATC 0.413000 31 4 0 0 1 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135762891 135762891 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:135762891G>A uc004fab.3 - 15 2166 c.1704_splice c.e15+1 p.S568_splice ARHGEF6_uc011mwd.2_Splice_Site_p.S441_splice|ARHGEF6_uc011mwe.2_Splice_Site_p.S414_splice NM_004840 NP_004831 Q15052 ARHG6_HUMAN Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA. 568 JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) ACTACTTACAGAATGAGCACT 0.468000 20 8 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179095614 179095614 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:179095614G>A uc001gmj.4 - 3 872 c.585C>T c.(583-585)ttC>ttT p.F195F ABL2_uc010pnf.2_Silent_p.F195F|ABL2_uc010png.2_Silent_p.F174F|ABL2_uc010pnh.2_Silent_p.F174F|ABL2_uc009wxe.3_Silent_p.F174F|ABL2_uc001gmg.4_Silent_p.F180F|ABL2_uc001gmi.4_Silent_p.F180F|ABL2_uc010pne.2_Silent_p.F159F|ABL2_uc001gmk.3_Silent_p.F159F|ABL2_uc009wxf.2_Silent_p.F180F NM_007314 NP_009298 P42684 ABL2_HUMAN Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA. 195 SH2. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) CTCGCACCAGGAAGCTGCCAT 0.537000 T ETV6 AML 69 11 0 0 1 0 0 THNSL1 79896 broad.mit.edu 37 10 25313574 25313574 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:25313574C>T uc001isi.4 + 2 1751 c.1422C>T c.(1420-1422)ggC>ggT p.G474G ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Silent_p.G474G NM_024838 NP_079114 Q8IYQ7 THNS1_HUMAN Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA. 474 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) TAAACTGGGGCCGACTACTTC 0.383000 49 10 0 0 1 0 0 STEAP3 55240 broad.mit.edu 37 2 120005733 120005733 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:120005733C>T uc002tlp.3 + 3 1128 c.971C>T c.(970-972)cCg>cTg p.P324L STEAP3_uc002tlq.3_Missense_Mutation_p.P334L|STEAP3_uc002tlr.3_Missense_Mutation_p.P324L|STEAP3_uc010fle.3_Missense_Mutation_p.P324L NM_018234 NP_060704 Q658P3 STEA3_HUMAN Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA. 324 Ferric oxidoreductase. apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 TTCTGCTTGCCGCTGCGCCGC 0.647000 42 7 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149490518 149490518 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:149490518C>T uc010lpk.3 + 38 5985 c.5985C>T c.(5983-5985)tgC>tgT p.C1995C NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 1998 VWFC 2. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCGCACACTGCTCACCCTACT 0.672000 19 3 0 0 1 0 0 ANKZF1 55139 broad.mit.edu 37 2 220097283 220097283 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:220097283C>T uc002vkg.3 + 4 610 c.436C>T c.(436-438)Cgg>Tgg p.R146W ATG9A_uc002vke.1_5'Flank|ATG9A_uc002vkf.1_5'Flank|ANKZF1_uc010zkv.1_Missense_Mutation_p.R90W|ANKZF1_uc010zkw.1_5'UTR|ANKZF1_uc002vkh.3_5'UTR|ANKZF1_uc002vki.3_Missense_Mutation_p.R146W|ANKZF1_uc002vkj.1_Missense_Mutation_p.R134W NM_018089 NP_060559 Q9H8Y5 ANKZ1_HUMAN Homo sapiens ankyrin repeat and zinc finger domain containing 1 (ANKZF1), transcript variant 1, mRNA. 146 intracellular zinc ion binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GACACTGGATCGGGAGAGGGC 0.507000 63 10 0 0 1 0 0 CELA3B 23436 broad.mit.edu 37 1 22310196 22310196 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:22310196C>T uc001bfk.3 + 4 487 c.372C>T c.(370-372)atC>atT p.I124I CELA3B_uc009vqf.3_Intron NM_007352 NP_031378 P08861 CEL3B_HUMAN Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA. 124 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 GCAATGACATCGCCCTCATCA 0.647000 46 10 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 978262 978262 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:978262C>T uc021qss.1 + 8 4013 c.3370C>T c.(3370-3372)Cat>Tat p.H1124Y WNK1_uc001qio.4_Intron|WNK1_uc021qst.1_Missense_Mutation_p.H1209Y|WNK1_uc001qip.4_Intron|WNK1_uc001qir.4_Intron|WNK1_uc001qiq.3_Missense_Mutation_p.H423Y NM_001184985 NP_001171914 Q9H4A3 WNK1_HUMAN Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA. 862 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) ATCTGCACTTCATCCACAGGT 0.388000 211 23 0 0 1 0 0 TOM1L1 10040 broad.mit.edu 37 17 52992013 52992013 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:52992013C>T uc002iud.2 + 5 687 c.512C>T c.(511-513)tCa>tTa p.S171L TOM1L1_uc002iub.3_Missense_Mutation_p.S136L|TOM1L1_uc002iuc.3_Missense_Mutation_p.S171L|TOM1L1_uc010dca.1_Missense_Mutation_p.S171L|TOM1L1_uc010wnb.1_Missense_Mutation_p.S164L|TOM1L1_uc010wnc.1_Missense_Mutation_p.S94L|TOM1L1_uc010dbz.2_Missense_Mutation_p.S94L|TOM1L1_uc010wnd.1_Intron|TOM1L1_uc010dcb.1_Non-coding_Transcript NM_005486 NP_005477 O75674 TM1L1_HUMAN Homo sapiens target of myb1 (chicken)-like 1 (TOM1L1), mRNA. 171 intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway Golgi stack|cytosol|endosome membrane|lysosome SH3 domain binding|ubiquitin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 15 GCTCAAATCTCATCAAATCCT 0.403000 54 4 0 0 1 0 0 EPHB3 2049 broad.mit.edu 37 3 184298341 184298341 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:184298341C>T uc003foz.3 + 11 2761 c.2324C>T c.(2323-2325)tCa>tTa p.S775L NM_004443 NP_004434 P54753 EPHB3_HUMAN Homo sapiens EPH receptor B3 (EPHB3), mRNA. 775 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) TGCAAAGTCTCAGACTTTGGC 0.592000 75 9 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51901193 51901193 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:51901193G>A uc002iua.2 + 0 955 c.799G>A c.(799-801)Gac>Aac p.D267N KIF2B_uc010wna.1_Intron NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN Homo sapiens kinesin family member 2B (KIF2B), mRNA. 267 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CTTCTGCTTCGACCATGCCTT 0.557000 39 5 0 0 1 0 0 L1TD1 54596 broad.mit.edu 37 1 62672685 62672685 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:62672685G>A uc021ooc.1 + 3 820 c.385G>A c.(385-387)Gat>Aat p.D129N L1TD1_uc001dae.4_Missense_Mutation_p.D129N NM_001164835 NP_061952 Q5T7N2 LITD1_HUMAN Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA. 129 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 aataggtgatgataatgaaaa 0.318000 72 14 0 0 1 0 0 TRIM10 10107 broad.mit.edu 37 6 30121959 30121959 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:30121959G>A uc003npo.3 - 6 1309 c.1233C>T c.(1231-1233)ttC>ttT p.F411F TRIM10_uc003npn.2_Intron NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA. 411 B30.2/SPRY. cytoplasm zinc ion binding ovary(1) 1 GAGCCGAGACGAAGCCCCAAG 0.672000 32 4 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 56000149 56000149 + Silent SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:56000149A>G uc010rjc.2 - 0 513 c.513T>C c.(511-513)taT>taC p.Y171Y NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA. 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) TGCTCACTGAATACAGGAGAG 0.443000 70 10 0 0 1 0 0 SFI1 9814 broad.mit.edu 37 22 31952984 31952984 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:31952984C>T uc003ale.3 + 6 994 c.601C>T c.(601-603)Cgt>Tgt p.R201C SFI1_uc003ald.1_Missense_Mutation_p.R177C|SFI1_uc003alf.3_Missense_Mutation_p.R201C|SFI1_uc003alg.3_Missense_Mutation_p.R119C|SFI1_uc011alp.2_Missense_Mutation_p.R119C|SFI1_uc011alq.2_Missense_Mutation_p.R177C|SFI1_uc003alh.3_Intron NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA. 201 G2/M transition of mitotic cell cycle centriole|cytosol p.R201H(1) NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 CGTGGTTGTTCGTAGGACCAA 0.468000 57 15 0 0 1 0 0 BSDC1 55108 broad.mit.edu 37 1 32842335 32842335 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:32842335G>A uc001bvi.3 - 8 782 c.735C>T c.(733-735)ctC>ctT p.L245L BSDC1_uc001bvh.4_Silent_p.L228L|BSDC1_uc010ohg.2_Silent_p.L245L|BSDC1_uc010ohh.2_Silent_p.L172L|BSDC1_uc010ohi.2_Silent_p.L133L|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Silent_p.L124L Q9NW68 BSDC1_HUMAN Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA. 228 protein binding breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) AAATGCCCATGAGCTCCTCTG 0.512000 36 7 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167035285 167035285 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:167035285C>T uc011bpc.2 - 12 1421 c.1084G>A c.(1084-1086)Gat>Aat p.D362N ZBBX_uc003feq.3_Missense_Mutation_p.D333N|ZBBX_uc003fep.3_Missense_Mutation_p.D362N NM_001199201 NP_001186130 A8MT70 ZBBX_HUMAN Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA. 362 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 CCATCACTATCTTCATCGTTT 0.333000 4 3 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15654909 15654909 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:15654909C>T uc001rcv.2 + 4 1487 c.1017C>T c.(1015-1017)tcC>tcT p.S339S PTPRO_uc001rcw.2_Silent_p.S339S|PTPRO_uc001rcu.2_Silent_p.S339S NM_030667 NP_109592 Q16827 PTPRO_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA. 339 Fibronectin type-III 4. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) GCTCTTTCTCCTTTTTCCCTG 0.428000 8 3 0 0 1 0 0 CLSPN 63967 broad.mit.edu 37 1 36205107 36205107 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:36205107T>C uc001bzi.3 - 18 3247 c.3167A>G c.(3166-3168)gAt>gGt p.D1056G CLSPN_uc009vux.3_Missense_Mutation_p.D992G NM_022111 NP_071394 Q9HAW4 CLSPN_HUMAN Homo sapiens claspin (CLSPN), transcript variant 1, mRNA. 1056 DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm DNA binding|anaphase-promoting complex binding NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTCTGCCTCATCCTCCAGGTA 0.398000 48 15 0 0 1 0 0 FHL5 9457 broad.mit.edu 37 6 97052718 97052718 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:97052718G>A uc003pos.2 + 3 668 c.252G>A c.(250-252)aaG>aaA p.K84K FHL5_uc003pot.2_Silent_p.K84K NM_020482 NP_065228 Q5TD97 FHL5_HUMAN Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA. 84 LIM zinc-binding 1. nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) TTGCTGCCAAGGATGAGCGCC 0.517000 35 4 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7662898 7662898 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:7662898G>A uc002giu.1 + 14 2621 c.2607G>A c.(2605-2607)ttG>ttA p.L869L NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 869 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TTGTCATTTTGAAGAATGATC 0.453000 57 4 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81235344 81235344 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:81235344G>A uc002bfw.1 + 26 4018 c.3758G>A c.(3757-3759)gGg>gAg p.G1253E KIAA1199_uc010unn.1_Missense_Mutation_p.G1253E NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN Homo sapiens KIAA1199 (KIAA1199), mRNA. 1253 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GTGATTGACGGGAACCAAGGG 0.567000 213 16 0 0 1 0 0 MCM4 4173 broad.mit.edu 37 8 48883137 48883137 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:48883137C>T uc003xqk.2 + 11 2327 c.1501C>T c.(1501-1503)Cgg>Tgg p.R501W MCM4_uc003xql.2_Missense_Mutation_p.R501W|MCM4_uc011ldi.2_Missense_Mutation_p.R488W NM_182746 NP_877423 P33991 MCM4_HUMAN Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA. 501 MCM. DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) GGGCAAATTTCGGGCTGAGAT 0.498000 62 4 0 0 1 0 0 C1QB 713 broad.mit.edu 37 1 22987460 22987460 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:22987460G>A uc001bgd.3 + 2 475 c.343G>A c.(343-345)Gac>Aac p.D115N NM_000491 NP_000482 P02746 C1QB_HUMAN Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA. 115 complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TGAATCGGGAGACTACAAGGC 0.622000 59 18 0 0 1 0 0 TRAPPC11 60684 broad.mit.edu 37 4 184585044 184585044 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:184585044C>T uc003ivx.3 + 1 226 c.24C>T c.(22-24)ttC>ttT p.F8F TRAPPC11_uc003ivw.3_Silent_p.F8F|TRAPPC11_uc010isc.3_5'UTR NM_021942 NP_068761 Q7Z392 CD041_HUMAN Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA. 8 AGTGGGACTTCCCTGTGGAAT 0.403000 63 4 0 0 1 0 0 GSDMD 79792 broad.mit.edu 37 8 144641705 144641705 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:144641705C>T uc003yyf.3 + 2 387 c.344C>T c.(343-345)cCg>cTg p.P115L GSDMD_uc010mfe.3_Missense_Mutation_p.P67L|GSDMD_uc003yyi.3_Missense_Mutation_p.P67L|GSDMD_uc003yyg.3_Missense_Mutation_p.P67L|GSDMD_uc003yyh.3_Intron NM_024736 NP_079012 P57764 GSDMD_HUMAN Homo sapiens gasdermin D (GSDMD), transcript variant 1, mRNA. 67 p.S114C(1) breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 12 ATCCTGGAGCCGGATGCCGCG 0.607000 91 15 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142574216 142574216 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:142574216G>A uc003wbx.2 - 5 936 c.707C>T c.(706-708)cCc>cTc p.P236L TRPV6_uc003wbw.1_Missense_Mutation_p.P22L|TRPV6_uc010lou.1_Missense_Mutation_p.P107L NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA. 236 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CTGGTGATTGGGCACGAGGTC 0.572000 45 12 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123005614 123005614 + Missense_Mutation SNP C T T rs148824947 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:123005614C>T uc003egh.2 - 19 3575 c.3575G>A c.(3574-3576)cGa>cAa p.R1192Q ADCY5_uc021xdd.1_Missense_Mutation_p.R842Q|ADCY5_uc003egg.2_Missense_Mutation_p.R850Q NM_183357 NP_899200 O95622 ADCY5_HUMAN Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA. 1192 Guanylate cyclase 2. activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|adenylate cyclase activity|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CTGAGGCTTTCGTGCCCCTAT 0.617000 OREG0015741 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 10 0 0 1 0 0 TRIM71 131405 broad.mit.edu 37 3 32915464 32915464 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:32915464G>A uc003cff.3 + 1 1070 c.1007G>A c.(1006-1008)cGa>cAa p.R336Q NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN Homo sapiens tripartite motif containing 71 (TRIM71), mRNA. 336 multicellular organismal development cytoplasm zinc ion binding p.R336fs*6(2) breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CAGCAGGGACGACAGGCAATC 0.617000 71 5 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29237342 29237342 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:29237342C>T uc010ezl.3 + 7 1310 c.959C>T c.(958-960)cCc>cTc p.P320L FAM179A_uc010ymm.2_Missense_Mutation_p.P320L|FAM179A_uc002rmr.4_5'UTR NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA. 320 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CAGTCTGCTCCCACGCTGACA 0.592000 15 5 0 0 1 0 0 ANTXR1 84168 broad.mit.edu 37 2 69409765 69409765 + Silent SNP C T T rs150501629 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:69409765C>T uc002sfg.3 + 15 1682 c.1326C>T c.(1324-1326)tcC>tcT p.S442S NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA. 442 actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity p.S442S(2) haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 GGCCTTCTTCCCCCCGGAAGT 0.423000 Familial Infantile Hemangioma 73 11 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62300404 62300404 + Silent SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:62300404A>T uc001ntl.3 - 4 1785 c.1485T>A c.(1483-1485)atT>atA p.I495I AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 495 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TAGGTTTCTGAATAATCATTT 0.473000 109 17 0 0 1 0 0 LENEP 55891 broad.mit.edu 37 1 154966142 154966142 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:154966142C>T uc021pak.1 + 0 59 c.59C>T c.(58-60)cCt>cTt p.P20L LENEP_uc001fgi.3_Missense_Mutation_p.P20L NM_018655 NP_061125 Q9Y5L5 LENEP_HUMAN Homo sapiens lens epithelial protein (LENEP), mRNA. 20 multicellular organismal development DNA binding lung(2) 2 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGAGGGGCCCCTCGAGACACT 0.637000 73 4 0 0 1 0 0 CCNL2 81669 broad.mit.edu 37 1 1325680 1325680 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:1325680G>A uc001afi.2 - 7 968 c.936C>T c.(934-936)gcC>gcT p.A312A CCNL2_uc010nym.1_Non-coding_Transcript|CCNL2_uc001aff.1_Silent_p.A90A|CCNL2_uc001afg.1_Silent_p.A90A|CCNL2_uc001afj.2_Silent_p.A90A NM_030937 NP_112199 Q96S94 CCNL2_HUMAN Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA. 312 RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein kinase binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) ACAGGCCCCGGGCTTGGGCCT 0.572000 96 23 0 0 1 0 0 NIPAL3 57185 broad.mit.edu 37 1 24768660 24768660 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:24768660C>T uc001bjh.3 + 3 685 c.278C>T c.(277-279)tCc>tTc p.S93F NIPAL3_uc010oek.2_Missense_Mutation_p.S93F|NIPAL3_uc009vrc.3_Missense_Mutation_p.S11F NM_020448 NP_065181 Q6P499 NPAL3_HUMAN Homo sapiens NIPA-like domain containing 3 (NIPAL3), mRNA. 93 integral to membrane endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1) 14 GTGTTCGCCTCCTACGCCTTC 0.637000 111 23 0 0 1 0 0 SPANXE 171489 broad.mit.edu 37 X 140785708 140785708 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:140785708C>T uc004fbq.3 - 1 301 c.208G>A c.(208-210)Gac>Aac p.D70N NM_145665 NP_663698 Q8TAD1 SPNXE_HUMAN Homo sapiens SPANX family, member E (SPANXE), mRNA. 70 cytoplasm|nucleus Acute lymphoblastic leukemia(192;7.65e-05) CGGGCGTGGTCATTCACCAGT 0.443000 133 15 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128865525 128865525 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:128865525C>T uc002tps.3 + 3 469 c.291C>T c.(289-291)tcC>tcT p.S97S UGGT1_uc010fme.1_Intron|UGGT1_uc002tpr.3_Silent_p.S73S NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA. 97 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine ER-Golgi intermediate compartment|endoplasmic reticulum lumen UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CCGATTATTCCTACTATCATG 0.378000 73 5 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61986627 61986627 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:61986627G>A uc001vid.4 - 1 1969 c.1605C>T c.(1603-1605)ttC>ttT p.F535F PCDH20_uc010thj.2_Silent_p.F535F NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN Homo sapiens protocadherin 20 (PCDH20), mRNA. 508 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) AGGGTTGAAGGAAAATTGGAG 0.428000 59 12 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24426228 24426228 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:24426228G>A uc001bin.4 - 5 761 c.598C>T c.(598-600)Cgt>Tgt p.R200C MYOM3_uc001bio.3_Missense_Mutation_p.R200C|MYOM3_uc001bip.1_5'UTR NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 200 Ig-like C2-type 1. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TTTCCGGCACGAAAGAGGCGG 0.572000 89 9 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70346421 70346421 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:70346421G>A uc003hek.4 - 5 1565 c.1518C>T c.(1516-1518)ttC>ttT p.F506F UGT2B4_uc011cap.2_Silent_p.F370F|UGT2B4_uc003hel.4_3'UTR NM_021139 NP_066962 P06133 UD2B4_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA. 506 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TTGTGATGATGAATATCACAG 0.488000 14 5 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72343954 72343954 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:72343954T>C uc002llw.2 + 0 1032 c.979T>C c.(979-981)Ttt>Ctt p.F327L ZNF407_uc010xfc.2_Missense_Mutation_p.F327L|ZNF407_uc010dqu.2_Missense_Mutation_p.F327L|ZNF407_uc002llu.2_Missense_Mutation_p.F326L NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA. 327 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GGGAAGCACGTTTAAAGATTT 0.353000 90 5 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50878419 50878419 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:50878419C>T uc003blb.2 + 21 2737 c.2315C>T c.(2314-2316)cCg>cTg p.P772L PPP6R2_uc003blc.3_Missense_Mutation_p.P772L|PPP6R2_uc003bky.2_Missense_Mutation_p.P746L|PPP6R2_uc003bla.2_Missense_Mutation_p.P746L|PPP6R2_uc003bkz.2_Missense_Mutation_p.P745L|PPP6R2_uc003bld.2_Missense_Mutation_p.P305L NM_001242898 NP_001229827 O75170 PP6R2_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA. 772 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 TGCAGCTCTCCGGTGGACACA 0.642000 47 5 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7630451 7630451 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:7630451C>T uc002giu.1 + 2 254 c.240C>T c.(238-240)ttC>ttT p.F80F DNAH2_uc002git.3_Silent_p.F80F|DNAH2_uc010vuk.2_Silent_p.F80F NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 80 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGCCCCTCTTCCTTTCCCGAG 0.542000 54 5 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98001873 98001873 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:98001873C>T uc003dsj.1 + 0 142 c.142C>T c.(142-144)Ctt>Ttt p.L48F NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA. 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 TGTGTGGAACCTTGGTCTGAT 0.433000 94 11 0 0 1 0 0 KRT85 3891 broad.mit.edu 37 12 52756661 52756661 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:52756661C>T uc001sag.3 - 5 1174 c.1054G>A c.(1054-1056)Gag>Aag p.E352K NM_002283 NP_002274 P78386 KRT85_HUMAN Homo sapiens keratin 85 (KRT85), mRNA. 352 Coil 2.|Rod. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TTCTCAATCTCGGCCGTCAGC 0.592000 70 8 0 0 1 0 0 ZBTB9 221504 broad.mit.edu 37 6 33423398 33423398 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:33423398C>T uc003oeq.3 + 1 789 c.521C>T c.(520-522)tCg>tTg p.S174L ZBTB9_uc021ywp.1_Missense_Mutation_p.S174L NM_152735 NP_689948 Q96C00 ZBTB9_HUMAN Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA. 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 ATTCGCTCTTCGCCTTTCCAG 0.542000 128 22 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 78709859 78709859 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:78709859G>A uc001xum.1 + 1 c.1216G>A Q9HDB5 NRX3B_HUMAN Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GGCCCTACATGGATGTGGTCA 0.617000 19 4 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12575771 12575771 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:12575771G>A uc002mtv.4 - 3 1126 c.965C>T c.(964-966)tCc>tTc p.S322F ZNF709_uc002mtw.4_Missense_Mutation_p.S290F|ZNF709_uc002mtx.4_Missense_Mutation_p.S322F NM_152601 NP_689814 Q8N972 ZN709_HUMAN Homo sapiens zinc finger protein 709 (ZNF709), mRNA. 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 TTTTCTAAAGGAACTAGGAAA 0.373000 31 4 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37252981 37252981 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:37252981G>A uc022abv.1 - 11 1623 c.913C>T c.(913-915)Ctg>Ttg p.L305L ELMO1_uc011kbc.2_Silent_p.L209L|ELMO1_uc003tfk.2_Silent_p.L305L|ELMO1_uc010kxg.2_Silent_p.L305L NM_001206482 NP_001193411 Q92556 ELMO1_HUMAN Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA. 305 Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 CTGTCTTCCAGGAGGTTAAAG 0.502000 21 4 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 65006823 65006823 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:65006823G>A uc002eoi.3 - 8 1808 c.1374C>T c.(1372-1374)gtC>gtT p.V458V CDH11_uc010cdn.3_Intron|CDH11_uc002eoj.3_Silent_p.V458V|CDH11_uc010vin.2_Silent_p.V332V NM_001797 NP_001788 P55287 CAD11_HUMAN Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA. 458 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CTGCTGCAAAGACAGTGATGT 0.378000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 32 4 0 0 1 0 0 DHX32 55760 broad.mit.edu 37 10 127569339 127569339 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:127569339G>A uc001ljf.1 - 0 546 c.55C>T c.(55-57)Cct>Tct p.P19S DHX32_uc001ljg.1_Missense_Mutation_p.P19S NM_018180 NP_060650 Q7L7V1 DHX32_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA. 19 mitochondrion|nucleus ATP binding|helicase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1) 29 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) AGGGATTCAGGAAAATAGCGT 0.468000 62 6 0 0 1 0 0 DNALI1 7802 broad.mit.edu 37 1 38023281 38023281 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:38023281C>T uc001cbj.3 + 1 235 c.225C>T c.(223-225)ccC>ccT p.P75P DNALI1_uc010oie.2_Non-coding_Transcript NM_003462 NP_003453 O14645 IDLC_HUMAN Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA. 53 cellular component movement|single fertilization axonemal dynein complex microtubule motor activity breast(1)|kidney(1)|large_intestine(2)|ovary(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCAAGCTCCCCTCAACTCCCT 0.562000 164 13 0 0 1 0 0 XPO6 23214 broad.mit.edu 37 16 28128716 28128716 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:28128716G>A uc002dpa.1 - 14 2428 c.1927C>T c.(1927-1929)Cac>Tac p.H643Y XPO6_uc002dpb.1_Missense_Mutation_p.H629Y|XPO6_uc010vcp.1_Missense_Mutation_p.H643Y NM_015171 NP_055986 Q96QU8 XPO6_HUMAN Homo sapiens exportin 6 (XPO6), mRNA. 643 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 TTCTGCCGGTGAACTTCACTG 0.488000 77 7 0 0 1 0 0 SLC13A3 64849 broad.mit.edu 37 20 45194880 45194880 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:45194880G>A uc002xsf.2 - 10 1522 c.1482C>T c.(1480-1482)gtC>gtT p.V494V SLC13A3_uc010ghn.2_Silent_p.V463V|SLC13A3_uc010zxx.2_Silent_p.V396V|SLC13A3_uc010zxw.2_Silent_p.V444V|SLC13A3_uc002xsg.2_Silent_p.V447V|SLC13A3_uc010gho.2_Silent_p.V412V|SLC13A3_uc002xse.2_5'Flank|SLC13A3_uc010ghm.2_Silent_p.V81V|SLC13A3_uc010zxv.2_Silent_p.V79V NM_022829 NP_073740 Q8WWT9 S13A3_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA. 494 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity p.V494F(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) GCTCTGCCAGGACCGGCAGGA 0.612000 134 15 0 0 1 0 0 APLP2 334 broad.mit.edu 37 11 129999051 129999051 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:129999051C>T uc010sby.2 + 9 1562 c.1405C>T c.(1405-1407)Cgg>Tgg p.R469W APLP2_uc001qfp.3_Missense_Mutation_p.R469W|APLP2_uc001qfq.3_Missense_Mutation_p.R413W|APLP2_uc010sbz.2_Missense_Mutation_p.R257W|APLP2_uc001qfr.3_Missense_Mutation_p.R235W|APLP2_uc001qfs.3_Missense_Mutation_p.R240W|APLP2_uc021qsg.1_Missense_Mutation_p.R479W|APLP2_uc001qfv.3_Missense_Mutation_p.R360W NM_001642 NP_001633 Q06481 APLP2_HUMAN Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA. 469 G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) TGACCGCCGTCGGATGGCTCT 0.592000 74 8 0 0 1 0 0 COLEC12 81035 broad.mit.edu 37 18 347136 347136 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:347136G>A uc002kkm.3 - 4 701 c.486C>T c.(484-486)ttC>ttT p.F162F NM_130386 NP_569057 Q5KU26 COL12_HUMAN Homo sapiens collectin sub-family member 12 (COLEC12), mRNA. 162 carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) TGGTGATGAGGAAAGAGTTAT 0.488000 73 15 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38493710 38493710 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:38493710G>A uc010ive.1 - 13 2395 c.2063C>T c.(2062-2064)tCt>tTt p.S688F LIFR_uc003jli.2_Missense_Mutation_p.S688F NM_001127671 NP_002301 P42702 LIFR_HUMAN Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA. 688 Fibronectin type-III 5. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity p.E687*(1) NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) CATCTTACCAGATTCTATTAC 0.408000 T PLAG1 salivary adenoma 51 9 0 0 1 0 0 LEO1 123169 broad.mit.edu 37 15 52242083 52242083 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:52242083G>A uc002abo.3 - 9 1736 c.1720C>T c.(1720-1722)Cga>Tga p.R574* LEO1_uc010bfd.3_Nonsense_Mutation_p.R514* NM_138792 NP_620147 Q8WVC0 LEO1_HUMAN Homo sapiens Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (LEO1), mRNA. 574 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 14 all cancers(107;0.00264) TCATCGTATCGATCAGGTTCC 0.527000 88 18 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40852546 40852546 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:40852546A>G uc003jmg.3 + 2 1187 c.1112A>G c.(1111-1113)cAa>cGa p.Q371R NM_032587 NP_115976 Q9BX69 CARD6_HUMAN Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA. 371 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 CGAGACATACAAACCATTAAT 0.463000 39 5 0 0 1 0 0 CDC73 79577 broad.mit.edu 37 1 193181590 193181590 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:193181590C>T uc001gtb.3 + 12 1380 c.1137C>T c.(1135-1137)gaC>gaT p.D379D NM_024529 NP_078805 Q6P1J9 CDC73_HUMAN Homo sapiens cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CDC73), mRNA. 379 D -> N (in HPT-JT). cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1) 87 ATGCAAAAGACCTTCTACAGG 0.328000 123 21 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44670089 44670089 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:44670089T>C uc010zxl.1 + 7 1121 c.1045T>C c.(1045-1047)Ttc>Ctc p.F349L SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.F326L NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA. 349 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTCCTCTCGCTTCCTCAACGC 0.562000 60 8 0 0 1 0 0 PDLIM2 64236 broad.mit.edu 37 8 22442594 22442594 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:22442594C>T uc003xby.3 + 4 1169 c.380C>T c.(379-381)tCc>tTc p.S127F PDLIM2_uc003xbx.2_Missense_Mutation_p.S377F|PDLIM2_uc003xca.3_Missense_Mutation_p.S127F|PDLIM2_uc003xcc.2_Missense_Mutation_p.S127F NM_021630 NP_067643 Q96JY6 PDLI2_HUMAN Homo sapiens PDZ and LIM domain 2 (mystique) (PDLIM2), transcript variant 2, mRNA. 127 Ser-rich. actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626) AGCCCAACCTCCCTCAGCCCG 0.622000 95 6 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128488636 128488636 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:128488636C>T uc003vnz.4 + 26 4811 c.4602C>T c.(4600-4602)ctC>ctT p.L1534L FLNC_uc003voa.4_Silent_p.L1534L NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 1534 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TCAAGGTCCTCCCAGCTCATG 0.632000 276 13 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125686004 125686004 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:125686004C>T uc022cds.1 - 0 588 c.588G>A c.(586-588)tgG>tgA p.W196* DCAF12L1_uc004eul.3_Nonsense_Mutation_p.W196* NM_178470 NP_848565 Q5VU92 DC121_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA. 196 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CGGCGAAGATCCAGTCCTTGT 0.667000 14 9 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 73000406 73000406 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:73000406C>T uc002lly.3 + 1 3472 c.2909C>T c.(2908-2910)tCg>tTg p.S970L TSHZ1_uc021uln.1_Missense_Mutation_p.S970L NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA. 1015 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S970L(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CAGAATGTTTCGAAAGTCCTC 0.502000 53 8 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155451141 155451141 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:155451141G>A uc003qqb.3 + 5 2057 c.784G>A c.(784-786)Gag>Aag p.E262K TIAM2_uc003qqe.3_Missense_Mutation_p.E262K NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA. 262 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGAGCTGAGCGAGGCTGAGGG 0.617000 63 5 0 0 1 0 0 SLC24A4 123041 broad.mit.edu 37 14 92949065 92949065 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:92949065C>T uc001yak.3 + 12 1320 c.1297C>T c.(1297-1299)Ctc>Ttc p.L433F SLC24A4_uc001yai.3_Missense_Mutation_p.L369F|SLC24A4_uc010twm.2_Missense_Mutation_p.L414F|SLC24A4_uc010auj.3_Missense_Mutation_p.L305F|SLC24A4_uc010twn.2_Missense_Mutation_p.L189F|SLC24A4_uc001yan.3_Missense_Mutation_p.L127F NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA. 433 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity p.W432L(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CACCTGGCCCCTCATCTTCCT 0.582000 107 11 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201196023 201196023 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:201196023G>A uc001gwc.3 + 22 10930 c.10800G>A c.(10798-10800)gtG>gtA p.V3600V IGFN1_uc001gwb.3_Non-coding_Transcript NM_001164586 NP_001158058 Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA. autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GGTTCACAGTGAAGGCTCCGT 0.632000 125 16 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40944371 40944371 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:40944371C>T uc002xkg.3 - 11 2315 c.2131G>A c.(2131-2133)Gcc>Acc p.A711T PTPRT_uc010ggj.3_Missense_Mutation_p.A711T NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 711 Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ACTCCATTGGCTTTGCTGAGT 0.468000 41 7 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21232290 21232290 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:21232290G>A uc002red.3 - 25 7578 c.7450C>T c.(7450-7452)Cta>Tta p.L2484L NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 2484 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTGTCCTGTAGGCTTTCCAGA 0.423000 315 125 0 0 1 0 0 NLGN4Y 22829 broad.mit.edu 37 Y 16952706 16952706 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrY:16952706C>T uc011nas.1 + 6 2254 c.2075C>T c.(2074-2076)tCc>tTc p.S692F NLGN4Y_uc004fte.2_Missense_Mutation_p.S504F|NLGN4Y_uc004ftg.2_Missense_Mutation_p.S672F|NLGN4Y_uc004ftf.2_Missense_Mutation_p.S365F|NLGN4Y_uc004fth.2_Missense_Mutation_p.S672F NM_001206850 NP_001193779 Q8NFZ3 NLGNY_HUMAN Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA. 672 brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity p.A692A(1) large_intestine(3)|lung(7)|prostate(2)|skin(2) 14 CGAGATTATTCCACCGAATTA 0.512000 60 14 0 0 1 0 0 USP43 124739 broad.mit.edu 37 17 9615392 9615392 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:9615392C>T uc010cod.3 + 13 2278 c.2278C>T c.(2278-2280)Ctg>Ttg p.L760L USP43_uc002gma.4_Silent_p.L449L|USP43_uc010vva.2_Silent_p.L755L|USP43_uc010coe.3_Silent_p.L557L|USP43_uc002gmc.4_Silent_p.L272L NM_153210 NP_694942 Q70EL4 UBP43_HUMAN Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA. 760 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 CTGCCCCTCCCTGCCCCAGGT 0.557000 29 3 0 0 1 0 0 SNED1 25992 broad.mit.edu 37 2 241976243 241976243 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:241976243G>A uc002wah.1 + 4 842 c.842G>A c.(841-843)gGc>gAc p.G281D NM_001080437 NP_001073906 Q8TER0 SNED1_HUMAN Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA. 281 EGF-like 1. cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) TGCCTCAACGGCGGCAAGTGC 0.692000 58 11 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23863004 23863004 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:23863004C>T uc001wjv.3 - 21 2870 c.2799G>A c.(2797-2799)gaG>gaA p.E933E NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 933 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCGCGTTCATCTCCTCCTCAT 0.532000 67 8 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18858169 18858169 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:18858169C>T uc021qvx.1 - 6 986 c.795G>A c.(793-795)caG>caA p.Q265Q PLCZ1_uc001rdv.4_Silent_p.Q161Q|PLCZ1_uc001rdw.4_Silent_p.Q6Q|PLCZ1_uc001rdu.1_Silent_p.Q6Q|PLCZ1_uc009zil.1_Non-coding_Transcript NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA. 265 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.Q265H(2) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) CAAAAGTAGCCTGCAAATTGT 0.398000 44 5 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804145 27804145 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:27804145C>T uc002rkz.4 + 0 4757 c.4706C>T c.(4705-4707)cCc>cTc p.P1569L ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA. 1569 Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CATCGCAGTCCCTCTGAGAGA 0.537000 71 33 0 0 1 0 0 FOXD4L1 200350 broad.mit.edu 37 2 114257370 114257370 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:114257370C>T uc002tjw.4 + 0 710 c.537C>T c.(535-537)acC>acT p.T179T NM_012184 NP_036316 Q9NU39 FX4L1_HUMAN Homo sapiens forkhead box D4-like 1 (FOXD4L1), mRNA. 179 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2) 26 GCAAGGGCACCTACTGGAGCC 0.647000 403 32 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22969327 22969327 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:22969327C>T uc001yus.3 + 21 2657 c.2553C>T c.(2551-2553)ttC>ttT p.F851F CYFIP1_uc001yut.3_Silent_p.F851F|CYFIP1_uc010aya.1_Silent_p.F879F|CYFIP1_uc001yuu.3_Silent_p.F420F|CYFIP1_uc001yuv.3_Silent_p.F45F NM_014608 NP_055423 Q7L576 CYFP1_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA. 851 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome Rac GTPase binding|actin filament binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) ACTATGACTTCCTGCCCAACT 0.642000 79 17 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144991585 144991585 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:144991585G>A uc003zaf.1 - 31 12985 c.12815C>T c.(12814-12816)tCc>tTc p.S4272F PLEC_uc003zab.1_Missense_Mutation_p.S4135F|PLEC_uc003zac.1_Missense_Mutation_p.S4139F|PLEC_uc003zad.2_Missense_Mutation_p.S4135F|PLEC_uc003zae.1_Missense_Mutation_p.S4103F|PLEC_uc003zag.1_Missense_Mutation_p.S4113F|PLEC_uc003zah.2_Missense_Mutation_p.S4121F|PLEC_uc003zaj.2_Missense_Mutation_p.S4162F NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 4272 Binding to intermediate filaments (By similarity).|Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CTTGCGCACGGAGGACTTGGA 0.617000 45 5 0 0 1 0 0 NEU2 4759 broad.mit.edu 37 2 233899725 233899725 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:233899725C>T uc010zmn.2 + 1 1101 c.1101C>T c.(1099-1101)ttC>ttT p.F367F NM_005383 NP_005374 Q9Y3R4 NEUR2_HUMAN Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA. 367 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) TTCTCATGTTCACCCTGAAGC 0.582000 184 12 0 0 1 0 0 REN 5972 broad.mit.edu 37 1 204125919 204125919 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:204125919G>A uc001haq.2 - 6 748 c.704C>T c.(703-705)tCc>tTc p.S235F NM_000537 NP_000528 P00797 RENI_HUMAN Homo sapiens renin (REN), mRNA. 235 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1) 19 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) CAGCGATTGGGAATTCCTAAA 0.527000 72 6 0 0 1 0 0 ALDH9A1 223 broad.mit.edu 37 1 165649900 165649900 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:165649900G>A uc001gdh.1 - 4 718 c.613C>T c.(613-615)Cct>Tct p.P205S ALDH9A1_uc010pky.1_Missense_Mutation_p.P111S|ALDH9A1_uc010pkz.1_Missense_Mutation_p.P195S|ALDH9A1_uc010pla.1_Missense_Mutation_p.P111S NM_000696 NP_000687 P49189 AL9A1_HUMAN Homo sapiens aldehyde dehydrogenase 9 family, member A1 (ALDH9A1), mRNA. 181 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 21 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) AAGGGAGAAGGTTTAAAGACC 0.468000 24 5 0 0 1 0 0 BIRC8 112401 broad.mit.edu 37 19 53793075 53793075 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:53793075C>T uc002qbk.3 - 0 1801 c.553G>A c.(553-555)Gag>Aag p.E185K NM_033341 NP_203127 Q96P09 BIRC8_HUMAN Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA. 185 apoptosis zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) AGCTTCTCCTCTTGCAGACGC 0.428000 49 7 0 0 1 0 0 ABCC4 10257 broad.mit.edu 37 13 95861734 95861734 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:95861734G>A uc001vmd.4 - 5 858 c.739C>T c.(739-741)Ctc>Ttc p.L247F ABCC4_uc010afk.3_Missense_Mutation_p.L247F|ABCC4_uc001vme.2_Missense_Mutation_p.L247F|ABCC4_uc010tih.1_Missense_Mutation_p.L172F|ABCC4_uc001vmf.2_Missense_Mutation_p.L204F|ABCC4_uc010afl.1_Missense_Mutation_p.L204F|ABCC4_uc010afm.1_Missense_Mutation_p.L260F NM_005845 NP_005836 O15439 MRP4_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA. 247 ABC transmembrane type-1 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) AAGGGCAGGAGAATGATTAGA 0.468000 35 5 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145562654 145562654 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:145562654C>T uc001eob.1 + 9 2450 c.2342C>T c.(2341-2343)gCt>gTt p.A781V ANKRD35_uc010oyx.1_Missense_Mutation_p.A624V NM_144698 NP_653299 Q8N283 ANR35_HUMAN Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA. 781 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CAAGTGGCCGCTCTGGAGCAA 0.627000 31 4 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 150877785 150877785 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:150877785G>A uc003eyp.3 + 6 1133 c.1004G>A c.(1003-1005)gGc>gAc p.G335D MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Missense_Mutation_p.G335D|MED12L_uc003eyo.3_Missense_Mutation_p.G335D NM_053002 NP_443728 Q86YW9 MD12L_HUMAN Homo sapiens mediator complex subunit 12-like (MED12L), mRNA. 335 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCCAGCCCTGGCCCCCCCGGC 0.582000 110 9 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22990076 22990076 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:22990076C>T uc001yus.3 + 23 2800 c.2696C>T c.(2695-2697)tCc>tTc p.S899F CYFIP1_uc001yut.3_Missense_Mutation_p.S899F|CYFIP1_uc010aya.1_Missense_Mutation_p.S927F|CYFIP1_uc001yuu.3_Missense_Mutation_p.S468F|CYFIP1_uc001yuv.3_Missense_Mutation_p.S93F NM_014608 NP_055423 Q7L576 CYFP1_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA. 899 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome Rac GTPase binding|actin filament binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TTGGCCTACTCCAGCATTTAC 0.547000 64 5 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14939527 14939527 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:14939527C>T uc003bzc.3 + 5 3101 c.2991C>T c.(2989-2991)ttC>ttT p.F997F FGD5_uc011avk.2_Silent_p.F997F|FGD5_uc003bzd.3_Silent_p.F75F NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA. 997 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding p.F997F(1)|p.F756F(1) NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TCCTGCAGTTCGACAGGTACC 0.602000 98 9 0 0 1 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543313 182543313 + Missense_Mutation SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:182543313G>T uc021vto.1 - 0 275 c.275C>A c.(274-276)aCt>aAt p.T92N CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.T92N|NEUROD1_uc021vtn.1_Missense_Mutation_p.T92N NM_002500 NP_002491 Q13562 NDF1_HUMAN Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA. 92 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding p.T92T(1) endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) GCGAGCCTTAGTCATCTTCTT 0.562000 367 62 9.65139e-37 9.79668e-37 1 1 0 LPO 4025 broad.mit.edu 37 17 56345271 56345271 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:56345271G>A uc002ivt.3 + 12 2371 c.2055G>A c.(2053-2055)tgG>tgA p.W685* LPO_uc010wns.2_Nonsense_Mutation_p.W626*|LPO_uc010dcp.3_Nonsense_Mutation_p.W602*|LPO_uc010dcq.3_Nonsense_Mutation_p.W356*|LPO_uc010dcr.3_Nonsense_Mutation_p.W248* NM_006151 NP_006142 P22079 PERL_HUMAN Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA. 685 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 ACCCATTCTGGGCCAACAGCT 0.562000 76 15 0 0 1 0 0 LOC650368 650368 broad.mit.edu 37 11 3430027 3430027 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:3430027C>T uc010qxs.1 + 10 c.1126C>T LOC650368_uc001lxy.2_Non-coding_Transcript Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA. GACTGTGCTCCCTTTGGTTAT 0.557000 29 4 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140810649 140810649 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:140810649C>T uc021xsg.1 - 1 2693 c.1941G>A c.(1939-1941)caG>caA p.Q647Q MAML3_uc011chd.1_Intron NM_018717 NP_061187 Q96JK9 MAML3_HUMAN Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA. 643 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q646Q(1) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.577000 47 5 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994575 140994575 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:140994575C>T uc004fbt.3 + 3 1709 c.1385C>T c.(1384-1386)tCc>tTc p.S462F MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S121F NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 462 protein binding p.S461N(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCAGAGTTCCCCTGAGAGA 0.483000 HNSCC(15;0.026) 60 8 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21798169 21798170 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:21798169_21798170CC>TT uc001ber.3 + 4 904_905 c.554_555CC>TT c.(553-555)gcc>gTT p.A185V NBPF3_uc001bes.3_Missense_Mutation_p.A129V|NBPF3_uc009vqb.3_Missense_Mutation_p.A185V|NBPF3_uc010odm.2_Missense_Mutation_p.A115V NM_032264 NP_115640 Q9H094 NBPF3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA. 185 cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CATCTCCAGGCCCTCCTCACTC 0.574000 127 6 0 0 1 0 0 AKNAD1 254268 broad.mit.edu 37 1 109366204 109366204 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:109366204C>T uc001dwa.3 - 11 2312 c.2043G>A c.(2041-2043)agG>agA p.R681R AKNAD1_uc010ovb.2_Silent_p.R388R|AKNAD1_uc001dwb.3_Non-coding_Transcript NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA. 681 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 TTGGTTCTTTCCTGCAGGCTC 0.463000 47 9 0 0 1 0 0 ZNF239 8187 broad.mit.edu 37 10 44052707 44052707 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:44052707C>T uc001jaw.4 - 1 1474 c.821G>A c.(820-822)aGg>aAg p.R274K ZNF239_uc001jax.4_Missense_Mutation_p.R274K|ZNF239_uc009xmj.3_Missense_Mutation_p.R274K|ZNF239_uc009xmk.3_Missense_Mutation_p.R274K|ZNF239_uc021pph.1_Missense_Mutation_p.R274K NM_005674 NP_005665 Q16600 ZN239_HUMAN Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA. 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 ACTTGAGCTCCTGGTGAAGCC 0.502000 54 6 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152644759 152644759 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:152644759G>A uc021zhb.1 - 79 15994 c.15771C>T c.(15769-15771)ttC>ttT p.F5257F SYNE1_uc003qot.4_Silent_p.F5186F|SYNE1_uc003qou.4_Silent_p.F5257F|SYNE1_uc010kiz.3_Silent_p.F1012F NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 5257 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCTCCAGAACGAACGTGTCGT 0.542000 HNSCC(10;0.0054) 65 4 0 0 1 0 0 WBP2NL 164684 broad.mit.edu 37 22 42415333 42415333 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:42415333G>A uc003bbt.3 + 1 175 c.81G>A c.(79-81)ccG>ccA p.P27P WBP2NL_uc011apk.2_Intron|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_5'Flank NM_152613 NP_689826 Q6ICG8 WBP2L_HUMAN Homo sapiens WBP2 N-terminal like (WBP2NL), mRNA. 27 egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 AGCGGTCTCCGAATGTGGAGC 0.398000 99 8 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12337667 12337667 + Missense_Mutation SNP C T T rs12407578 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12337667C>T uc001atv.3 + 18 4163 c.4022C>T c.(4021-4023)tCg>tTg p.S1341L VPS13D_uc001atw.3_Missense_Mutation_p.S1341L|VPS13D_uc001atx.3_Missense_Mutation_p.S529L NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 1341 S -> L (in dbSNP:rs12407578). protein localization p.V1340I(1) NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GAGATGGTATCGCTCTTTGAA 0.438000 26 4 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69957191 69957191 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:69957191G>A uc001jnm.4 + 16 3426 c.3241G>A c.(3241-3243)Gat>Aat p.D1081N MYPN_uc001jnn.4_Missense_Mutation_p.D806N|MYPN_uc001jno.4_Missense_Mutation_p.D1081N|MYPN_uc009xpt.3_Missense_Mutation_p.D1081N|MYPN_uc010qit.2_Missense_Mutation_p.D787N|MYPN_uc010qiu.2_Non-coding_Transcript NM_032578 NP_115967 Q86TC9 MYPN_HUMAN Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA. 1081 Ig-like 4.|Interaction with ACTN. nucleus|sarcomere actin binding p.G1080W(1) breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GGCTCCTGGGGATATGGTAGC 0.493000 53 7 0 0 1 0 0 C1orf95 375057 broad.mit.edu 37 1 226784510 226784510 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:226784510C>T uc021pjx.1 + 1 315 c.210C>T c.(208-210)ttC>ttT p.F70F C1orf95_uc021pjw.1_Silent_p.F70F NM_001003665 NP_001003665 Q69YW2 CA095_HUMAN Homo sapiens chromosome 1 open reading frame 95 (C1orf95), mRNA. 70 integral to membrane large_intestine(1)|lung(4)|ovary(3) 8 Breast(184;0.133) Prostate(94;0.0885) GBM - Glioblastoma multiforme(131;0.113) CAGGGACATTCGTCTCGGCCT 0.632000 105 7 0 0 1 0 0 EGFL6 25975 broad.mit.edu 37 X 13651119 13651119 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:13651119G>A uc004cvj.3 + 11 1857 c.1570G>A c.(1570-1572)Gaa>Aaa p.E524K EGFL6_uc004cvi.3_Missense_Mutation_p.E523K NM_001167890 NP_001161362 Q8IUX8 EGFL6_HUMAN Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA. 523 MAM. cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding p.E523*(2)|p.E524*(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 TTTTGAAGCAGAACGTGGCAA 0.373000 37 14 0 0 1 0 0 RNF122 79845 broad.mit.edu 37 8 33416214 33416214 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:33416214G>A uc003xjo.1 - 1 503 c.101C>T c.(100-102)cCg>cTg p.P34L NM_024787 NP_079063 Q9H9V4 RN122_HUMAN Homo sapiens ring finger protein 122 (RNF122), mRNA. 34 Golgi apparatus|endoplasmic reticulum|integral to membrane zinc ion binding endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116) GATGTTGAGCGGAAGGTCCTG 0.498000 49 6 0 0 1 0 0 DEDD2 162989 broad.mit.edu 37 19 42713960 42713960 + Missense_Mutation SNP G A A rs150206484 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:42713960G>A uc002osu.1 - 3 549 c.481C>T c.(481-483)Cgg>Tgg p.R161W DEDD2_uc002osv.1_Non-coding_Transcript|DEDD2_uc002osw.1_Missense_Mutation_p.R156W|DEDD2_uc010eid.3_Non-coding_Transcript NM_133328 NP_579874 Q8WXF8 DEDD2_HUMAN Homo sapiens death effector domain containing 2 (DEDD2), mRNA. 161 RNA processing|activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent nucleolus DNA binding|receptor signaling complex scaffold activity endometrium(1)|large_intestine(1)|ovary(1)|prostate(2) 5 Prostate(69;0.0704) GGCCGGCCCCGACTCCGCCGC 0.667000 42 4 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77677740 77677740 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:77677740C>T uc011cbx.2 + 7 5801 c.4848C>T c.(4846-4848)tcC>tcT p.S1616S SHROOM3_uc003hkg.3_Silent_p.S1394S NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 1616 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) CACCACCCTCCTTCATGAGCG 0.567000 40 10 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30490424 30490424 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:30490424G>A uc002dyi.4 + 4 516 c.340G>A c.(340-342)Ggg>Agg p.G114R ITGAL_uc010veu.1_Non-coding_Transcript|ITGAL_uc002dyj.4_Intron|ITGAL_uc010vev.2_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA. 114 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) CTGTGACCCTGGGCTGTCTCG 0.517000 60 4 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102500716 102500716 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:102500716C>T uc001yks.2 + 55 10845 c.10681C>T c.(10681-10683)Cgc>Tgc p.R3561C NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 3561 AAA 5 (By similarity). G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TGAGCGTCTTCGCTGGCAGGC 0.517000 61 7 0 0 1 0 0 ALPI 248 broad.mit.edu 37 2 233322730 233322730 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:233322730G>A uc002vst.4 + 7 956 c.879G>A c.(877-879)acG>acA p.T293T ALPI_uc002vsu.4_Silent_p.T204T NM_001631 NP_001622 P09923 PPBI_HUMAN Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA. 293 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCGGAGACACGAAATATGAGA 0.622000 36 8 0 0 1 0 0 HSPB7 27129 broad.mit.edu 37 1 16342141 16342141 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:16342141G>A uc001axr.2 - 2 1289 c.726C>T c.(724-726)atC>atT p.I242I HSPB7_uc001axo.2_Silent_p.I149I|HSPB7_uc001axp.2_Silent_p.I232I|HSPB7_uc001axq.2_Silent_p.I241I|HSPB7_uc001axs.2_Silent_p.I224I NM_014424 NP_055239 Q9UBY9 HSPB7_HUMAN Homo sapiens heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7), mRNA. 149 regulation of heart contraction|response to heat|response to unfolded protein Cajal body protein C-terminus binding breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) GCCGTGCCCGGATAGTGAGGC 0.637000 72 5 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20269273 20269273 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:20269273G>A uc002wru.3 + 22 2931 c.2817G>A c.(2815-2817)gaG>gaA p.E939E C20orf26_uc002wrw.3_Intron NM_015585 NP_056400 Q8NHU2 CT026_HUMAN Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA. 939 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) GCTTCTGTGAGAAGAATGTGG 0.403000 87 14 0 0 1 0 0 LGR6 59352 broad.mit.edu 37 1 202288214 202288214 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:202288214C>T uc001gxu.3 + 17 2783 c.2783C>T c.(2782-2784)cCc>cTc p.P928L LGR6_uc001gxv.3_Missense_Mutation_p.P876L|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.P789L NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA. 928 P -> H (in a colorectal cancer sample; somatic mutation). integral to membrane|plasma membrane protein-hormone receptor activity p.P928H(2) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 TTTGGGAACCCCCAACCCTCC 0.637000 71 12 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88768968 88768968 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:88768968C>T uc001kee.2 + 11 2163 c.959C>T c.(958-960)tCc>tTc p.S320F AGAP11_uc001kef.3_Intron NM_133447 NP_597704 Q8TF27 AGA11_HUMAN Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA. 320 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding AAAAGCAAGTCCCAGCTGACC 0.577000 148 17 0 0 1 0 0 CYP8B1 1582 broad.mit.edu 37 3 42916031 42916031 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:42916031G>A uc003cmh.3 - 0 1603 c.1278C>T c.(1276-1278)atC>atT p.I426I CCBP2_uc003cmg.3_Intron NM_004391 NP_004382 Q9UNU6 CP8B1_HUMAN Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA. 426 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) TGTAGTGGTGGATCTTCTTGC 0.542000 103 7 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152276039 152276039 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152276039C>T uc001ezu.1 - 2 11359 c.11323G>A c.(11323-11325)Gag>Aag p.E3775K NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3775 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.H3774H(2)|p.E3775*(2) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACCGATTGCTCGTGGTAGGAT 0.597000 Ichthyosis 393 22 0 0 1 0 0 CTIF 9811 broad.mit.edu 37 18 46385867 46385867 + Missense_Mutation SNP G C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:46385867G>C uc002ldd.3 + 12 2099 c.1740G>C c.(1738-1740)tgG>tgC p.W580C CTIF_uc002ldc.3_Missense_Mutation_p.W578C|CTIF_uc002lde.4_Missense_Mutation_p.W207C NM_001142397 NP_001135869 O43310 CTIF_HUMAN Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA. 578 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding p.P580R(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 CTAACAGCTGGAACCCTCTGA 0.642000 59 8 0 0 1 0 0 CCNJL 79616 broad.mit.edu 37 5 159680456 159680456 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:159680456G>A uc003lyb.1 - 6 1489 c.1237C>T c.(1237-1239)Ctc>Ttc p.L413F CCNJL_uc011dee.1_Missense_Mutation_p.L365F|CCNJL_uc003lyc.1_Non-coding_Transcript NM_024565 NP_078841 Q8IV13 CCNJL_HUMAN Homo sapiens cyclin J-like (CCNJL), mRNA. 413 nucleus endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTGGTGGCGAGGCAGTGCCTG 0.602000 49 9 0 0 1 0 0 CANT1 124583 broad.mit.edu 37 17 76993539 76993539 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:76993539G>A uc002jwj.3 - 1 661 c.166C>T c.(166-168)Ctc>Ttc p.L56F CANT1_uc002jwn.3_Missense_Mutation_p.L56F|CANT1_uc002jwk.3_Missense_Mutation_p.L56F|CANT1_uc002jwl.2_Non-coding_Transcript NM_138793 NP_620148 Q8WVQ1 CANT1_HUMAN Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA. 56 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) AGCAGCCAGAGGATGGCAGCA 0.692000 T ETV4 prostate 27 7 0 0 1 0 0 C1orf186 440712 broad.mit.edu 37 1 206239489 206239489 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:206239489C>T uc001hdt.1 - 5 1048 c.409G>A c.(409-411)Gaa>Aaa p.E137K NM_001007544 NP_001007545 Q6ZWK4 CA186_HUMAN Homo sapiens chromosome 1 open reading frame 186 (C1orf186), mRNA. 137 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9 BRCA - Breast invasive adenocarcinoma(75;0.0754) TCTGTGATTTCCTTTATGTTC 0.438000 32 11 0 0 1 0 0 ABCC10 89845 broad.mit.edu 37 6 43403497 43403497 + Silent SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:43403497G>T uc003ouy.1 + 4 1832 c.1617G>T c.(1615-1617)acG>acT p.T539T ABCC10_uc003ouz.1_Silent_p.T496T|ABCC10_uc010jyo.1_5'UTR NM_001198934 NP_001185863 Q5T3U5 MRP7_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA. 539 ABC transmembrane type-1 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) AGGTGTTCACGGCCCTGGCAC 0.562000 27 4 0.150653 0.151351 1 1 0 ST6GAL2 84620 broad.mit.edu 37 2 107459508 107459508 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:107459508G>A uc002tdq.3 - 1 1045 c.926C>T c.(925-927)tCc>tTc p.S309F ST6GAL2_uc002tdr.3_Missense_Mutation_p.S309F|ST6GAL2_uc002tds.3_Missense_Mutation_p.S309F NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 309 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CTCGCCCAAGGAAGAGTTGAG 0.682000 21 3 0 0 1 0 0 FDX1L 112812 broad.mit.edu 37 19 10421176 10421176 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:10421176G>A uc002mny.1 - 4 557 c.538C>T c.(538-540)Ccc>Tcc p.P180S ZGLP1_uc002mnw.4_5'Flank|FDX1L_uc002mnx.1_Non-coding_Transcript NM_001031734 NP_001026904 Q6P4F2 ADXL_HUMAN Homo sapiens ferredoxin 1-like (FDX1L), nuclear gene encoding mitochondrial protein, mRNA. 180 electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06) TGGGGCTTGGGGACATGGCCA 0.612000 45 5 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75499395 75499395 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:75499395C>T uc002azp.4 + 1 1326 c.1006C>T c.(1006-1008)Ccc>Tcc p.P336S C15orf39_uc002azq.4_Missense_Mutation_p.P336S|C15orf39_uc021sqm.1_Missense_Mutation_p.P95S|C15orf39_uc002azr.4_5'Flank NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA. 336 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 ACCTTACATTCCCCCACTGGG 0.687000 43 5 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4511891 4511891 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:4511891G>A uc002mar.1 - 2 2039 c.2039C>T c.(2038-2040)aCc>aTc p.T680I PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN Homo sapiens perilipin 4 (PLIN4), mRNA. 680 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 CTTGGTGCCGGTCAGCACGGT 0.572000 205 12 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5415827 5415827 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:5415827G>A uc002kmt.1 - 12 2143 c.2057C>T c.(2056-2058)tCa>tTa p.S686L EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA. 686 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 CTCTTCCTCTGAACTGTCACT 0.577000 45 13 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200944007 200944007 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:200944007G>A uc001gvs.2 - 33 4966 c.4649C>T c.(4648-4650)gCc>gTc p.A1550V KIF21B_uc009wzl.2_Missense_Mutation_p.A1550V|KIF21B_uc001gvr.2_Missense_Mutation_p.A1537V|KIF21B_uc010ppn.2_Missense_Mutation_p.A1537V NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 1550 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GAAGGCCAGGGCGCACACCCA 0.642000 145 25 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20628566 20628566 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:20628566C>T uc001mqd.3 + 3 966 c.693C>T c.(691-693)atC>atT p.I231I SLC6A5_uc009yic.3_5'UTR NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA. 231 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) CTTTCCTCATCCCTTACCTGA 0.582000 81 5 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123965554 123965554 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:123965554C>T uc022bag.1 + 0 1804 c.1804C>T c.(1804-1806)Caa>Taa p.Q602* ZHX2_uc003ypk.1_Nonsense_Mutation_p.Q602* NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA. 602 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G601A(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) CAAAAAAGGCCAAGATGTGGG 0.562000 47 5 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2384451 2384451 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:2384451C>T uc002wfy.1 + 8 1379 c.1318C>T c.(1318-1320)Ctc>Ttc p.L440F TGM6_uc010gal.1_Missense_Mutation_p.L440F NM_198994 NP_945345 O95932 TGM3L_HUMAN Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA. 440 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) CATCACTGACCTCTACAAGTA 0.592000 79 6 0 0 1 0 0 GPR157 80045 broad.mit.edu 37 1 9165602 9165602 + Silent SNP G A A rs147122688 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:9165602G>A uc001apq.1 - 2 878 c.735C>T c.(733-735)ttC>ttT p.F245F GPR157_uc010oad.1_Intron NM_024980 NP_079256 Q5UAW9 GP157_HUMAN Homo sapiens G protein-coupled receptor 157 (GPR157), mRNA. 245 integral to membrane|plasma membrane G-protein coupled receptor activity lung(4)|prostate(1) 5 all_lung(157;0.185) all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642) GGGTCAGCACGAACCGCACGG 0.667000 23 6 0 0 1 0 0 FRMD7 90167 broad.mit.edu 37 X 131212472 131212472 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:131212472G>A uc004ewn.3 - 11 1751 c.1573C>T c.(1573-1575)Ccc>Tcc p.P525S FRMD7_uc022cdy.1_Missense_Mutation_p.P405S|FRMD7_uc011muy.2_Missense_Mutation_p.P510S NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN Homo sapiens FERM domain containing 7 (FRMD7), mRNA. 525 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding p.P525T(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) ATTGCAGTGGGCTCTACATAG 0.498000 15 6 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140750111 140750111 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140750111C>T uc003ljw.2 + 0 150 c.150C>T c.(148-150)ctC>ctT p.L50L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc011dat.2_Silent_p.L50L NM_018924 NP_061747 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA. 48 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGGGAACCTCGCCAAGGACC 0.537000 96 7 0 0 1 0 0 NOTUM 147111 broad.mit.edu 37 17 79910844 79910844 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:79910844C>T uc010wvg.2 - 10 1756 c.1484G>A c.(1483-1485)gGa>gAa p.G495E NM_178493 NP_848588 Q6P988 NOTUM_HUMAN Homo sapiens notum pectinacetylesterase homolog (Drosophila) (NOTUM), mRNA. 495 extracellular region hydrolase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 15 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TGCCTAGCTTCCGTTGCTCAG 0.672000 137 9 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204426916 204426916 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:204426916G>A uc001haw.3 - 9 2132 c.1653C>T c.(1651-1653)atC>atT p.I551I PIK3C2B_uc010pqv.2_Silent_p.I551I|PIK3C2B_uc001hax.1_Silent_p.I551I|PIK3C2B_uc009xbd.1_Non-coding_Transcript NM_002646 NP_002637 O00750 P3C2B_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA. 551 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GAGCACTGGTGATCTCAGGGG 0.622000 28 4 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43176851 43176851 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:43176851G>A uc002yzn.1 - 1 356 c.308C>T c.(307-309)tCc>tTc p.S103F NM_020639 NP_065690 Q96T11 Q96T11_HUMAN Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA. 103 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.S103F(2) NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CTTTTCCAGGGAGCCCGTCTC 0.587000 44 4 0 0 1 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195506 18195506 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:18195506C>T uc001mnv.1 + 0 1123 c.703C>T c.(703-705)Ctg>Ttg p.L235L NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA. 235 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 CTTCGGCATTCTGGGGGCCCT 0.522000 27 4 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5191833 5191833 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:5191833C>T uc003jdl.3 + 7 1381 c.1243C>T c.(1243-1245)Cgc>Tgc p.R415C ADAMTS16_uc003jdk.1_Missense_Mutation_p.R415C|ADAMTS16_uc003jdj.1_Missense_Mutation_p.R415C NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 415 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R415H(1) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TAGTAAATATCGCAGCTGCAC 0.418000 28 10 0 0 1 0 0 TCP11L2 255394 broad.mit.edu 37 12 106729826 106729826 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:106729826G>A uc001tln.3 + 7 1151 c.977G>A c.(976-978)gGa>gAa p.G326E NM_152772 NP_689985 Q8N4U5 T11L2_HUMAN Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA. 326 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 ATGACAGATGGAGCACGTCTT 0.353000 13 3 0 0 1 0 0 CDH26 60437 broad.mit.edu 37 20 58564203 58564203 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:58564203C>T uc002ybe.3 + 8 1579 c.1268C>T c.(1267-1269)cCa>cTa p.P423L CDH26_uc002ybf.1_Missense_Mutation_p.P3L|CDH26_uc010zzy.2_Non-coding_Transcript NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA. 423 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P423Q(3) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) GCCATGGATCCAGACAGCCAG 0.532000 263 28 0 0 1 0 0 KLKB1 3818 broad.mit.edu 37 4 187172417 187172417 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:187172417C>T uc003iyy.3 + 7 874 c.803C>T c.(802-804)tCc>tTc p.S268F KLKB1_uc011clc.2_Missense_Mutation_p.S66F|KLKB1_uc011cld.2_Missense_Mutation_p.S230F NM_000892 NP_000883 P03952 KLKB1_HUMAN Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA. 268 Apple 3. Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) ACACCAAGTTCCTCTACTCCT 0.299000 91 8 0 0 1 0 0 HTR5A 3361 broad.mit.edu 37 7 154875986 154875986 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:154875986G>A uc003wlu.1 + 1 927 c.863G>A c.(862-864)gGc>gAc p.G288D NM_024012 NP_076917 P47898 5HT5A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA. 288 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CTCATGGTGGGCATCCTCATT 0.632000 68 6 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156906636 156906636 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:156906636G>A uc001fqo.3 - 38 5522 c.4482C>T c.(4480-4482)agC>agT p.S1494S ARHGEF11_uc010phu.2_Silent_p.S910S|ARHGEF11_uc001fqn.3_Silent_p.S1534S|MIR765_uc021pbj.1_5'Flank NM_014784 NP_055599 O15085 ARHGB_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA. 1494 G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction Golgi apparatus|cytosol|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCAGTTCATGGCTGTTCCTGG 0.592000 106 9 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 71002983 71002983 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:71002983C>T uc001swb.4 - 1 221 c.191G>A c.(190-192)gGg>gAg p.G64E PTPRB_uc010sto.2_Missense_Mutation_p.G64E|PTPRB_uc010stp.2_Missense_Mutation_p.G64E|PTPRB_uc001swc.4_Missense_Mutation_p.G282E|PTPRB_uc001swa.4_Missense_Mutation_p.G282E|PTPRB_uc001swd.4_Missense_Mutation_p.G281E|PTPRB_uc009zrr.2_Missense_Mutation_p.G161E|PTPRB_uc001swe.3_Missense_Mutation_p.G282E NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 64 Fibronectin type-III 1. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CAACGCGGCCCCCAGGGTGTC 0.488000 39 9 0 0 1 0 0 CAMK1G 57172 broad.mit.edu 37 1 209768397 209768397 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:209768397C>T uc001hhd.3 + 1 171 c.69C>T c.(67-69)ttC>ttT p.F23F CAMK1G_uc001hhf.4_Silent_p.F23F|CAMK1G_uc001hhe.3_Silent_p.F23F NM_020439 NP_065172 Q96NX5 KCC1G_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA. 23 Protein kinase. Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity p.T22A(1) breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) GGAAAACCTTCATTTTTATGG 0.522000 61 5 0 0 1 0 0 RASSF9 9182 broad.mit.edu 37 12 86199418 86199418 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:86199418G>A uc001taf.1 - 1 709 c.370C>T c.(370-372)Cct>Tct p.P124S NM_005447 NP_005438 O75901 RASF9_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA. 124 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CGCCACAAAGGAACTGGAAGA 0.438000 126 8 0 0 1 0 0 TBC1D16 125058 broad.mit.edu 37 17 77984427 77984427 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:77984427G>A uc002jxj.3 - 2 427 c.311C>T c.(310-312)cCc>cTc p.P104L NM_019020 NP_061893 Q8TBP0 TBC16_HUMAN Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA. 104 intracellular Rab GTPase activator activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3) 28 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) CTTGCGAACGGGGGAGCTCTC 0.701000 58 7 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32012952 32012952 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:32012952G>A uc003nzl.2 - 31 10954 c.10752C>T c.(10750-10752)ttC>ttT p.F3584F TNXB_uc003nzg.1_Silent_p.F15F|TNXB_uc003nzh.1_Silent_p.F53F NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 3631 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACTGGACCACGAAGGAATCAA 0.647000 379 18 0 0 1 0 0 ZNF585A 199704 broad.mit.edu 37 19 37644011 37644011 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:37644011G>A uc002ofo.1 - 4 1021 c.790C>T c.(790-792)Cat>Tat p.H264Y ZNF585A_uc002ofm.1_Missense_Mutation_p.H209Y|ZNF585A_uc002ofn.1_Missense_Mutation_p.H209Y NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA. 264 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCGCCTGTATGGATTTTCTGA 0.428000 129 21 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154394782 154394782 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:154394782G>A uc010jih.1 + 0 1523 c.1363G>A c.(1363-1365)Gaa>Aaa p.E455K NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 455 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GGAGACTTTGGAAGACCAGGA 0.443000 57 9 0 0 1 0 0 NUDT8 254552 broad.mit.edu 37 11 67395635 67395636 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:67395635_67395636GG>AA uc001omo.2 - 3 518_519 c.492_493CC>TT c.(490-495)ttccgc>ttTTgc p.R165C NUDT8_uc001omn.3_3'UTR NM_001243750 NP_001230679 Q8WV74 NUDT8_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 8 (NUDT8), transcript variant 1, mRNA. 165 Nudix hydrolase. mitochondrion hydrolase activity|metal ion binding endometrium(1)|lung(1)|prostate(1)|skin(1) 4 AGTGTGTAGCGGAAGTGGCCAC 0.614000 68 11 0 0 1 0 0 SECISBP2 79048 broad.mit.edu 37 9 91943605 91943605 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:91943605C>T uc004aqj.1 + 4 685 c.605C>T c.(604-606)tCc>tTc p.S202F SECISBP2_uc010mqn.1_Missense_Mutation_p.S202F|SECISBP2_uc004aqi.1_Missense_Mutation_p.S129F|SECISBP2_uc010mqo.1_5'UTR|SECISBP2_uc004aqk.1_Missense_Mutation_p.S129F|SECISBP2_uc011ltk.1_Missense_Mutation_p.S201F|SECISBP2_uc011ltl.1_Missense_Mutation_p.S134F NM_024077 NP_076982 Q96T21 SEBP2_HUMAN Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA. 202 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 GACAGGAAATCCAGAATCATT 0.353000 29 7 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62219479 62219479 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:62219479G>A uc002agz.3 - 51 6418 c.6327C>T c.(6325-6327)atC>atT p.I2109I VPS13C_uc002aha.3_Silent_p.I2066I|VPS13C_uc002ahb.2_Silent_p.I2109I|VPS13C_uc002ahc.2_Silent_p.I2066I NM_020821 NP_065872 Q709C8 VP13C_HUMAN Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA. 2109 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 CTGGATCTGTGATCATGGCCT 0.423000 103 42 0 0 1 0 0 IGHE 3497 broad.mit.edu 37 14 106066561 106066561 + Missense_Mutation SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:106066561G>T uc001yrw.1 - 4 1183 c.1171C>A c.(1171-1173)Cgc>Agc p.R391S abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.R338S|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_5'Flank RecName: Full=Ig epsilon chain C region; TTGGTCTTGCGGGGCTGCGTC 0.627000 49 4 1 1 1 1 0 ITGB4 3691 broad.mit.edu 37 17 73726336 73726336 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:73726336G>A uc002jpg.3 + 7 940 c.753G>A c.(751-753)tgG>tgA p.W251* ITGB4_uc002jph.3_Nonsense_Mutation_p.W251*|ITGB4_uc010dgo.3_Nonsense_Mutation_p.W251*|ITGB4_uc002jpi.4_Nonsense_Mutation_p.W251*|ITGB4_uc010dgp.1_Nonsense_Mutation_p.W251*|ITGB4_uc002jpj.3_Nonsense_Mutation_p.W251*|ITGB4_uc010wsh.1_5'Flank NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 251 VWFA. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) ACATTGGCTGGCGCCCGGACA 0.662000 43 5 0 0 1 0 0 RPL6 6128 broad.mit.edu 37 12 112843768 112843768 + Silent SNP G A A rs150735821 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:112843768G>A uc001ttu.3 - 5 832 c.603C>T c.(601-603)atC>atT p.I201I RPL6_uc001ttv.3_Silent_p.I201I NM_001024662 NP_001019833 Q02878 RL6_HUMAN Homo sapiens ribosomal protein L6 (RPL6), transcript variant 1, mRNA. 201 LNRVPLRRTHQKFVIATSTKIDISN -> SIEFLYEEHTRN LSLPLQPKSISAI (in Ref. 5; AAB30819). endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|RNA binding|structural constituent of ribosome cervix(1)|large_intestine(6)|lung(3) 10 TGCTGATATCGATTTTGGTTG 0.423000 42 4 0 0 1 0 0 MAN1A2 10905 broad.mit.edu 37 1 117910832 117910832 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:117910832C>T uc001ehd.1 + 0 748 c.27C>T c.(25-27)ctC>ctT p.L9L MAN1A2_uc009whg.1_5'UTR NM_006699 NP_006690 O60476 MA1A2_HUMAN Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA. 9 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TGCTGCCCCTCTCTGGACGTA 0.463000 117 7 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55111547 55111547 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:55111547G>A uc010rie.2 + 0 871 c.871G>A c.(871-873)Gag>Aag p.E291K NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA. 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 GAGACAATCAGAGATGAAAAA 0.323000 2 3 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222802528 222802528 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:222802528C>T uc001hnl.3 + 3 1975 c.1966C>T c.(1966-1968)Ccc>Tcc p.P656S MIA3_uc009xea.1_Missense_Mutation_p.P492S NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA. 656 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) AAGAAATCTTCCCTGGCAACA 0.463000 241 32 0 0 1 0 0 FUT1 2523 broad.mit.edu 37 19 49254491 49254491 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:49254491G>A uc002pkk.3 - 3 1023 c.48C>T c.(46-48)gtC>gtT p.V16V FUT1_uc021uwy.1_Silent_p.V16V NM_000148 NP_000139 P19526 FUT1_HUMAN Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA. 16 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) AGAGGACACAGACTAGCAGGA 0.572000 39 5 0 0 1 0 0 GGTLC1 92086 broad.mit.edu 37 20 23966798 23966798 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:23966798G>A uc002wts.3 - 2 352 c.219C>T c.(217-219)ctC>ctT p.L73L GGTLC1_uc002wtu.3_Silent_p.L73L|DQ583395_uc021wbk.1_5'Flank NM_178312 NP_842564 Q9BX51 GGTL1_HUMAN Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA. 73 gamma-glutamyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 TTTCATTATTGAGCAGGATCC 0.582000 91 17 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74825099 74825099 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:74825099C>T uc021rwl.1 + 0 1613 c.1613C>T c.(1612-1614)cCt>cTt p.P538L VRTN_uc001xpw.4_Missense_Mutation_p.P538L NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA. 538 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 AGCCTGTCACCTTCTGCCTTT 0.657000 85 4 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168105143 168105143 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:168105143G>A uc002udx.3 + 8 7330 c.7241G>A c.(7240-7242)gGa>gAa p.G2414E XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G2239E|XIRP2_uc010fpq.3_Missense_Mutation_p.G2192E|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2239 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATCATAACAGGAAAAACCGGT 0.438000 20 4 0 0 1 0 0 DDX53 168400 broad.mit.edu 37 X 23018477 23018477 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:23018477G>A uc004daj.3 + 0 400 c.303G>A c.(301-303)atG>atA p.M101I NM_182699 NP_874358 Q86TM3 DDX53_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA. 101 KH. nucleus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 ATAGGGAAATGAAAGCAAAGG 0.368000 32 4 0 0 1 0 0 ULK4 54986 broad.mit.edu 37 3 41705177 41705177 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:41705177G>A uc003ckv.4 - 29 3193 c.2992C>T c.(2992-2994)Ctt>Ttt p.L998F NM_017886 NP_060356 Q96C45 ULK4_HUMAN Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA. 998 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) GGTTCTAAAAGAATGTGCTCA 0.368000 21 5 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26228958 26228958 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:26228958C>T uc003abz.1 + 15 3304 c.3054C>T c.(3052-3054)ccC>ccT p.P1018P MYO18B_uc003aca.1_Silent_p.P899P|MYO18B_uc010guy.1_Silent_p.P899P|MYO18B_uc010guz.1_Silent_p.P899P|MYO18B_uc011aka.1_Silent_p.P172P|MYO18B_uc011akb.1_Silent_p.P531P NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 1018 Myosin head-like. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 ATCAAAATCCCTCTCAGGTAA 0.498000 70 9 0 0 1 0 0 SGIP1 84251 broad.mit.edu 37 1 67154915 67154915 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:67154915C>T uc001dcr.3 + 15 1617 c.1400C>T c.(1399-1401)tCc>tTc p.S467F SGIP1_uc010opd.2_Missense_Mutation_p.S67F|SGIP1_uc001dcs.3_Missense_Mutation_p.S67F|SGIP1_uc001dct.3_Missense_Mutation_p.S67F|SGIP1_uc009wat.3_Missense_Mutation_p.S261F NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA. 467 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex SH3 domain binding|microtubule binding|phospholipid binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 CGGCCTCCATCCCGGCCAAAG 0.537000 158 22 0 0 1 0 0 KBTBD5 131377 broad.mit.edu 37 3 42729662 42729662 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:42729662G>A uc003clv.1 + 1 1281 c.1181G>A c.(1180-1182)gGg>gAg p.G394E NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA. 394 breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(284;0.214) GAGTGGCTGGGGATGCCACCG 0.657000 58 8 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52496330 52496330 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:52496330C>T uc001wzo.3 - 9 2570 c.2336G>A c.(2335-2337)gGg>gAg p.G779E NID2_uc010tqs.2_Missense_Mutation_p.G779E|NID2_uc010tqt.1_Missense_Mutation_p.G779E|NID2_uc001wzp.3_Missense_Mutation_p.G779E NM_007361 NP_031387 Q14112 NID2_HUMAN Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA. 779 EGF-like 2. basement membrane calcium ion binding|collagen binding p.P778S(1) NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TACACCTGTCCCTGGATGGCA 0.537000 44 7 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41573208 41573208 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:41573208G>A uc003xok.3 - 13 1648 c.1564C>T c.(1564-1566)Ctt>Ttt p.L522F NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.L522F|ANK1_uc003xoj.3_Missense_Mutation_p.L522F|ANK1_uc003xol.3_Missense_Mutation_p.L522F|ANK1_uc003xom.3_Missense_Mutation_p.L555F NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 522 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.L522H(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TTTTCCAGAAGGGCCAGGACT 0.622000 56 6 0 0 1 0 0 CCT3 7203 broad.mit.edu 37 1 156279062 156279062 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:156279062G>A uc001fol.2 - 13 1797 c.1566C>T c.(1564-1566)atC>atT p.I522I CCT3_uc010phj.2_Silent_p.I476I|CCT3_uc010phk.2_Silent_p.I476I|CCT3_uc001fon.2_Silent_p.I484I|CCT3_uc010phl.2_Silent_p.I476I NM_005998 NP_005989 P49368 TCPG_HUMAN Homo sapiens chaperonin containing TCP1, subunit 3 (gamma) (CCT3), transcript variant 1, mRNA. 522 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) GGCCTGAAACGATGTCATCAA 0.502000 98 8 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71532595 71532595 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:71532595G>A uc004agu.3 + 8 1208 c.903G>A c.(901-903)aaG>aaA p.K301K PIP5K1B_uc011lrq.2_Silent_p.K301K|PIP5K1B_uc004agv.3_Non-coding_Transcript NM_003558 NP_003549 O14986 PI51B_HUMAN Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA. 301 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) GGATGCAGAAGGTTCTCTACT 0.502000 52 11 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140719074 140719074 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140719074C>T uc003ljk.2 + 0 721 c.536C>T c.(535-537)tCc>tTc p.S179F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.S179F NM_018915 NP_061738 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA. 179 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCACTTCTCCCTGGACGTG 0.557000 59 5 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152326955 152326955 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152326955C>T uc001ezw.4 - 2 3380 c.3307G>A c.(3307-3309)Gga>Aga p.G1103R AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 1103 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTGTTGTCCAAATCCAGAT 0.512000 93 6 0 0 1 0 0 STT3A 3703 broad.mit.edu 37 11 125479474 125479474 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:125479474C>T uc001qcd.2 + 9 1217 c.1107C>T c.(1105-1107)ttC>ttT p.F369F STT3A_uc009zbm.2_Silent_p.F369F|STT3A_uc001qce.2_Silent_p.F369F|STT3A_uc010sbg.1_Silent_p.F277F|STT3A_uc009zbn.2_Intron NM_152713 NP_689926 P46977 STT3A_HUMAN Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA. 369 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) TCCTCGTCTTCATGTTTCCAG 0.438000 89 5 0 0 1 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65208639 65208639 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:65208639C>T uc001xhp.2 + 15 2806 c.2767C>T c.(2767-2769)Ccc>Tcc p.P923S PLEKHG3_uc001xhn.1_Missense_Mutation_p.P746S|PLEKHG3_uc001xho.1_Missense_Mutation_p.P802S|PLEKHG3_uc010aqh.1_Missense_Mutation_p.P344S|PLEKHG3_uc001xhq.1_Missense_Mutation_p.P307S NM_015549 NP_056364 A1L390 PKHG3_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA. 802 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) GGACCCACCTCCCATCTCAGA 0.622000 87 17 0 0 1 0 0 TCRBV2S1 0 broad.mit.edu 37 7 142334806 142334806 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:142334806C>T uc003vzp.2 + 1 283 c.228C>T c.(226-228)gtC>gtT p.V76V TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzq.2_Silent_p.V77V|TCRBV2S1_uc022anq.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; AGCAAGGCGTCGAGAAGGACA 0.512000 OREG0018395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 13 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81111235 81111235 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:81111235C>T uc001szg.2 + 0 528 c.393C>T c.(391-393)atC>atT p.I131I NM_005593 NP_005584 P13349 MYF5_HUMAN Homo sapiens myogenic factor 5 (MYF5), mRNA. 131 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 TCCGCTACATCGAGAGCCTGC 0.592000 83 9 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38621203 38621203 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:38621203C>T uc002ohk.3 + 9 3443 c.2934C>T c.(2932-2934)ggC>ggT p.G978G NM_015073 NP_055888 O60292 SI1L3_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA. 978 PDZ. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GGCAGCTGGGCTTCCACGTGA 0.657000 82 18 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174515 51174515 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:51174515T>C uc021tif.1 - 1 1649 c.1327A>G c.(1327-1329)Agc>Ggc p.S443G SALL1_uc021tid.1_Missense_Mutation_p.S443G|SALL1_uc021tie.1_Missense_Mutation_p.S540G|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 540 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S442S(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TCTAGCCAGCTGGTGACTGGC 0.562000 74 9 0 0 1 0 0 HEMK1 51409 broad.mit.edu 37 3 50614589 50614589 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:50614589C>T uc003dau.3 + 4 817 c.521C>T c.(520-522)tCc>tTc p.S174F HEMK1_uc003dav.3_Missense_Mutation_p.S174F NM_016173 NP_057257 Q9Y5R4 HEMK1_HUMAN Homo sapiens HemK methyltransferase family member 1 (HEMK1), mRNA. 174 DNA methylation DNA binding|N-methyltransferase activity|protein methyltransferase activity lung(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212) GGAGCCATCTCCCTCAGCCTG 0.632000 64 5 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160100341 160100341 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:160100341C>T uc001fvc.3 + 12 1913 c.1781C>T c.(1780-1782)gCt>gTt p.A594V ATP1A2_uc001fvb.2_Missense_Mutation_p.A594V|ATP1A2_uc001fvd.3_Missense_Mutation_p.A330V|ATP1A2_uc009wtg.1_Missense_Mutation_p.A282V NM_000702 NP_000693 P50993 AT1A2_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA. 594 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CCTCCCCGGGCTGCTGTGCCA 0.567000 52 7 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20974974 20974974 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:20974974G>A uc010vbe.2 - 52 10232 c.10232C>T c.(10231-10233)gCt>gTt p.A3411V DNAH3_uc010vbd.2_Missense_Mutation_p.A846V NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 3411 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.A3411D(3) NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CCATTGGGGAGCTGGATTGGG 0.527000 47 7 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143092161 143092161 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:143092161G>A uc003qjd.3 - 4 4458 c.3715C>T c.(3715-3717)Cag>Tag p.Q1239* NM_006734 NP_006725 P31629 ZEP2_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA. 1239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TAGCTCTTCTGAGGGTGCTGA 0.493000 99 7 0 0 1 0 0 LPCAT4 254531 broad.mit.edu 37 15 34652319 34652319 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:34652319G>A uc001zig.3 - 11 1329 c.1235C>T c.(1234-1236)gCc>gTc p.A412V NM_153613 NP_705841 Q643R3 LPCT4_HUMAN Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA. 412 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1) 10 TACCTCAAAGGCCAGACGAGT 0.577000 75 5 0 0 1 0 0 RIPK3 11035 broad.mit.edu 37 14 24805496 24805496 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:24805496G>A uc001wpb.3 - 9 1652 c.1442C>T c.(1441-1443)cCt>cTt p.P481L ADCY4_uc001wow.3_5'Flank|ADCY4_uc010toh.2_5'Flank|ADCY4_uc001wox.3_5'Flank|ADCY4_uc001woy.3_5'Flank|ADCY4_uc001woz.4_5'Flank|RIPK3_uc001wpa.3_Missense_Mutation_p.P281L|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_Missense_Mutation_p.P260L NM_006871 NP_006862 Q9Y572 RIPK3_HUMAN Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA. 481 apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) CTTGCCCGAAGGTGCCAAGCC 0.552000 98 10 0 0 1 0 0 NCDN 23154 broad.mit.edu 37 1 36026527 36026527 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:36026527C>T uc001bza.3 + 3 902 c.775C>T c.(775-777)Cgg>Tgg p.R259W KIAA0319L_uc010ohw.2_5'Flank|NCDN_uc001bzb.3_Missense_Mutation_p.R259W|NCDN_uc001bzc.3_Missense_Mutation_p.R242W NM_001014839 NP_001014841 Q9UBB6 NCDN_HUMAN Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA. 259 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGAATGCTACCGGGATCTGCA 0.632000 96 9 0 0 1 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543371 182543371 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:182543371C>T uc021vto.1 - 0 217 c.217G>A c.(217-219)Gaa>Aaa p.E73K CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.E73K|NEUROD1_uc021vtn.1_Missense_Mutation_p.E73K NM_002500 NP_002491 Q13562 NDF1_HUMAN Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA. 73 Glu-rich (acidic).|Poly-Glu. amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) tcctcctcttcctcttcttcc 0.542000 385 25 0 0 1 0 0 FAM116B 414918 broad.mit.edu 37 22 50755728 50755728 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:50755728G>A uc011arv.1 - 4 519 c.447C>T c.(445-447)ttC>ttT p.F149F NM_001001794 NP_001001794 Q8NEG7 F116B_HUMAN Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA. 149 endometrium(1)|kidney(1)|lung(2)|skin(1) 5 all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCACCTTCTGGAAGTAGCCCC 0.637000 30 10 0 0 1 0 0 OR2F1 26211 broad.mit.edu 37 7 143657186 143657186 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:143657186G>A uc003wds.1 + 0 167 c.123G>A c.(121-123)ggG>ggA p.G41G NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) CCGTGCTGGGGAACTGTCTCA 0.522000 96 28 0 0 1 0 0 DSTYK 25778 broad.mit.edu 37 1 205126506 205126507 + Missense_Mutation DNP CA AG AG TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:205126506_205126507CA>AG uc001hbw.3 - 9 2310_2311 c.2246_2247TG>CT c.(2245-2247)ctg>cCT p.L749P DSTYK_uc001hbx.3_Missense_Mutation_p.L749P NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA. 749 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 TCTCCAGGGTCAGCCCAGCCTT 0.470000 25 5 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73462009 73462009 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:73462009C>T uc003tzw.3 + 12 739 c.648C>T c.(646-648)ggC>ggT p.G216G ELN_uc003tzm.1_Intron|ELN_uc003tzn.3_Silent_p.G216G|ELN_uc003tzy.3_Silent_p.G211G|ELN_uc003tzz.3_Intron|ELN_uc003tzo.3_Intron|ELN_uc003tzp.3_Silent_p.G172G|ELN_uc003tzq.3_Intron|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Silent_p.G216G|ELN_uc003tzt.3_Silent_p.G221G|ELN_uc003tzu.3_Silent_p.G221G|ELN_uc003tzv.3_Silent_p.G206G|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Silent_p.G206G|ELN_uc011kff.2_Silent_p.G216G NM_000501 NP_001075224 P15502 ELN_HUMAN Homo sapiens elastin (ELN), transcript variant 1, mRNA. 216 blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CTCCAGGTGGCTATGGACTGC 0.592000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 92 5 0 0 1 0 0 FAXC 84553 broad.mit.edu 37 6 99729201 99729201 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:99729201G>A uc003ppj.4 - 5 1352 c.1069C>T c.(1069-1071)Ccg>Tcg p.P357S FAXC_uc003ppi.4_Missense_Mutation_p.P77S NM_032511 NP_115900 Q5TGI0 CF168_HUMAN Homo sapiens chromosome 6 open reading frame 168 (C6orf168), mRNA. 357 TCCAGCAGCGGGGTGTGGGTT 0.473000 21 7 0 0 1 0 0 APOBEC3B 9582 broad.mit.edu 37 22 39355623 39355623 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:39355623G>A uc003awn.2 + 1 276 c.106G>A c.(106-108)Gaa>Aaa p.E36K APOBEC3B_uc011aob.1_Missense_Mutation_p.E18K|APOBEC3B_uc011aoc.1_Missense_Mutation_p.E36K NM_145699 NP_663745 Q9UH17 ABC3B_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (APOBEC3A), transcript variant 1, mRNA. 219 negative regulation of transposition RNA binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 13 Melanoma(58;0.04) CCTGTGCTACGAAGTGGAGCG 0.537000 70 11 0 0 1 0 0 SPSB1 80176 broad.mit.edu 37 1 9416477 9416477 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:9416477C>T uc010oae.2 + 1 866 c.527C>T c.(526-528)tCc>tTc p.S176F SPSB1_uc001apv.3_Missense_Mutation_p.S176F NM_025106 NP_079382 Q96BD6 SPSB1_HUMAN Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA. 176 B30.2/SPRY. intracellular signal transduction cytoplasm breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2) 13 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) GTCCCTGACTCCTTCCTGGTA 0.537000 140 7 0 0 1 0 0 CYP1A1 1543 broad.mit.edu 37 15 75013627 75013627 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:75013627G>A uc002ayp.4 - 4 1201 c.1079C>T c.(1078-1080)tCt>tTt p.S360F CYP1A1_uc010bjy.3_Missense_Mutation_p.S360F|CYP1A1_uc010bju.3_Missense_Mutation_p.S96F|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Missense_Mutation_p.S96F|CYP1A1_uc002ayq.4_Missense_Mutation_p.S360F|CYP1A1_uc010bjz.1_Missense_Mutation_p.S96F NM_000499 NP_000490 P04798 CP1A1_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA. 360 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) GGATCTGTCAGAGAGCCGGGG 0.607000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 78 5 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31621460 31621460 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:31621460C>T uc002rnv.1 - 4 491 c.412G>A c.(412-414)Gag>Aag p.E138K NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 138 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity p.E137E(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TTCTCAATCTCCTCCATGGTG 0.587000 87 5 0 0 1 0 0 C12orf63 374467 broad.mit.edu 37 12 97043765 97043765 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:97043765C>T uc021rcc.1 + 1 140 c.62C>T c.(61-63)tCt>tTt p.S21F Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 21 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 CAATCAGGTTCTAGTGCTAAA 0.338000 31 3 0 0 1 0 0 OSBPL1A 114876 broad.mit.edu 37 18 21743222 21743222 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:21743222G>A uc002kve.3 - 27 2991 c.2774C>T c.(2773-2775)cCc>cTc p.P925L OSBPL1A_uc002kvd.3_Missense_Mutation_p.P412L|OSBPL1A_uc010xbc.2_Missense_Mutation_p.P543L NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA. 925 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TCCATTGTAGGGATTAGGACC 0.408000 34 3 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59221604 59221604 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:59221604C>T uc010dps.1 + 10 2234 c.2082C>T c.(2080-2082)gcC>gcT p.A694A CDH20_uc002lif.2_Silent_p.A688A NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN Homo sapiens cadherin 20, type 2 (CDH20), mRNA. 694 A -> G (in Ref. 1; AAG23739). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) CGGGGGCCGCCCCCAAGACGC 0.692000 54 8 0 0 1 0 0 IGSF9 57549 broad.mit.edu 37 1 159899586 159899586 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:159899586G>A uc001fur.2 - 16 2366 c.2168C>T c.(2167-2169)tCg>tTg p.S723L IGSF9_uc001fuq.2_Missense_Mutation_p.S707L|IGSF9_uc001fup.2_5'UTR NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA. 723 cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) CTGCGTGCGCGAAGGGTAGAC 0.697000 9 5 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39003027 39003027 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:39003027G>A uc002oit.3 + 62 9506 c.9376G>A c.(9376-9378)Ggc>Agc p.G3126S RYR1_uc002oiu.3_Missense_Mutation_p.G3126S|RYR1_uc002oiv.1_Missense_Mutation_p.G46S|RYR1_uc010xuf.1_Missense_Mutation_p.G46S NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 3126 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GAAAGGCGTGGGCCAGAACCT 0.622000 47 4 0 0 1 0 0 GH2 2689 broad.mit.edu 37 17 61957840 61957840 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:61957840G>A uc002jcl.1 - 3 810 c.748C>T c.(748-750)Caa>Taa p.Q250* GH2_uc002jcn.1_Silent_p.F150F|GH2_uc002jco.1_Silent_p.F165F|GH2_uc002jcm.1_Missense_Mutation_p.S164L NM_022557 NP_072051 P01242 SOM2_HUMAN Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA. 0 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 AGGACTGATTGAAGATCTGCC 0.542000 81 7 0 0 1 0 0 OR1G1 8390 broad.mit.edu 37 17 3030767 3030767 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:3030767G>A uc002fvc.1 - 0 79 c.79C>T c.(79-81)Ctc>Ttc p.L27F NM_003555 NP_003546 P47890 OR1G1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA. 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 GACCCAAAGAGGGGCTTCTGC 0.498000 35 5 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144893205 144893205 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:144893205G>A uc003yzp.1 - 10 1151 c.1144C>T c.(1144-1146)Ctc>Ttc p.L382F SCRIB_uc003yzo.1_Missense_Mutation_p.L382F NM_015356 NP_056171 Q14160 SCRIB_HUMAN Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA. 382 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction Scrib-APC-beta-catenin complex|cell-cell adherens junction protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) AGGGCCTTGAGATTGAGGTGG 0.677000 16 4 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10543375 10543375 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:10543375G>A uc002gmq.2 - 21 2708 c.2620C>T c.(2620-2622)Cta>Tta p.L874L NM_002470 NP_002461 P11055 MYH3_HUMAN Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA. 874 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TTTTCCTCTAGCTCCTTCCTT 0.433000 61 7 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138545963 138545963 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:138545963G>A uc011kql.2 - 15 5218 c.5169C>T c.(5167-5169)acC>acT p.T1723T KIAA1549_uc011kqi.2_Silent_p.T507T|KIAA1549_uc011kqk.2_Silent_p.T507T|KIAA1549_uc011kqj.2_Silent_p.T1723T NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 1723 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CCTGGGAAGGGGTGCTGTTTG 0.657000 O BRAF pilocytic astrocytoma 62 17 0 0 1 0 0 OSR2 116039 broad.mit.edu 37 8 99961765 99961765 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:99961765G>A uc011lgx.2 + 2 1369 c.948G>A c.(946-948)acG>acA p.T316T OSR2_uc010mbn.2_Silent_p.T195T|OSR2_uc003yir.3_Silent_p.T195T|OSR2_uc003yiq.3_Silent_p.T195T NM_001142462 NP_001135934 Q8N2R0 OSR2_HUMAN Homo sapiens odd-skipped related 2 (Drosophila) (OSR2), transcript variant 1, mRNA. 195 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) GGACCCACACGGACGAGAGGC 0.537000 137 11 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38991518 38991518 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:38991518C>T uc002oit.3 + 46 7632 c.7502C>T c.(7501-7503)tCc>tTc p.S2501F RYR1_uc002oiu.3_Missense_Mutation_p.S2501F|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 2501 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CACAAGGCGTCCATGGTGCTC 0.637000 41 5 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78073553 78073553 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:78073553C>T uc010dht.3 + 19 3439 c.3408C>T c.(3406-3408)ctC>ctT p.L1136L CCDC40_uc002jxm.4_Silent_p.L919L|CCDC40_uc002jxn.4_Silent_p.L532L|GAA_uc002jxp.3_5'Flank|GAA_uc002jxo.3_5'Flank|GAA_uc002jxq.3_5'Flank NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA. 1136 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CCAACAAGCTCGAGTCACCAG 0.602000 31 5 0 0 1 0 0 REN 5972 broad.mit.edu 37 1 204128682 204128682 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:204128682C>T uc001haq.2 - 4 578 c.534G>A c.(532-534)acG>acA p.T178T NM_000537 NP_000528 P00797 RENI_HUMAN Homo sapiens renin (REN), mRNA. 178 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1) 19 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) CGGGCATCTCCGTGACCTCTC 0.577000 50 8 0 0 1 0 0 HSPA4 3308 broad.mit.edu 37 5 132439672 132439672 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:132439672C>T uc003kyj.3 + 17 2554 c.2273C>T c.(2272-2274)aCc>aTc p.T758I NM_002154 NP_002145 P34932 HSP74_HUMAN Homo sapiens heat shock 70kDa protein 4 (HSPA4), mRNA. 758 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAGAGTTTGACCATGGATCCA 0.338000 33 6 0 0 1 0 0 OR1L8 138881 broad.mit.edu 37 9 125330750 125330750 + Silent SNP T G G rs111916014 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:125330750T>G uc004bmp.1 - 0 7 c.7A>C c.(7-9)Aga>Cga p.R3R NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA. 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TGGTTGATTCTTTCCATTGAC 0.433000 26 4 0 0 1 0 0 KIF14 9928 broad.mit.edu 37 1 200523668 200523668 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:200523668G>A uc010ppk.1 - 28 4934 c.4495C>T c.(4495-4497)Cgt>Tgt p.R1499C KIF14_uc010ppj.1_Missense_Mutation_p.R1008C NM_014875 NP_055690 Q15058 KIF14_HUMAN Homo sapiens kinesin family member 14 (KIF14), mRNA. 1499 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 TCTGGAGCACGATTAACCATC 0.279000 21 3 0 0 1 0 0 SYT17 51760 broad.mit.edu 37 16 19236136 19236136 + Missense_Mutation SNP G C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:19236136G>C uc002dfw.3 + 6 1535 c.1204G>C c.(1204-1206)Gaa>Caa p.E402Q SYT17_uc002dfx.3_Missense_Mutation_p.E341Q|SYT17_uc002dfy.3_Missense_Mutation_p.E398Q NM_016524 NP_057608 Q9BSW7 SYT17_HUMAN Homo sapiens synaptotagmin XVII (SYT17), mRNA. 402 C2 2. membrane|synaptic vesicle transporter activity p.E402K(2) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 AGAAGAACTGGAAAATGCCAG 0.448000 37 8 0 0 1 0 0 CELF1 10658 broad.mit.edu 37 11 47493861 47493861 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:47493861G>A uc001nfp.3 - 14 1868 c.1466C>T c.(1465-1467)tCc>tTc p.S489F CELF1_uc001nfl.3_Missense_Mutation_p.S461F|CELF1_uc010rhm.2_Missense_Mutation_p.S460F|CELF1_uc001nfm.3_Missense_Mutation_p.S458F|CELF1_uc001nfk.2_Missense_Mutation_p.S487F|CELF1_uc001nfn.3_Missense_Mutation_p.S457F|CELF1_uc001nfr.1_Missense_Mutation_p.S461F NM_001025596 NP_001020767 Q92879 CELF1_HUMAN Homo sapiens CUGBP, Elav-like family member 1 (CELF1), transcript variant 3, mRNA. 461 RNA interference|embryo development|mRNA splice site selection|regulation of RNA splicing cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2) 18 GCCGTTCATGGACTGGATGGC 0.502000 119 6 0 0 1 0 0 PAX8 7849 broad.mit.edu 37 2 113999205 113999205 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:113999205C>T uc010yxt.2 - 6 866 c.700G>A c.(700-702)Gag>Aag p.E234K PAX8_uc010yxu.2_Missense_Mutation_p.E234K|PAX8_uc002tjm.3_Missense_Mutation_p.E234K|PAX8_uc002tjn.3_Missense_Mutation_p.E234K|PAX8_uc010fku.1_Missense_Mutation_p.E234K|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron NM_003466 NP_003457 Q06710 PAX8_HUMAN Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA. 234 branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20 TCGAGCGGCTCGAGGTGGTGC 0.627000 T PPARG follicular thyroid Thyroid dysgenesis 35 4 0 0 1 0 0 HFE2 148738 broad.mit.edu 37 1 145414803 145414803 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:145414803C>T uc001eni.2 + 1 347 c.22C>T c.(22-24)Cct>Tct p.P8S HFE2_uc001enk.2_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enl.2_Intron|HFE2_uc021oux.1_5'Flank NM_213653 NP_660320 Q6ZVN8 RGMC_HUMAN Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA. 8 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AGGCCAGTCCCCTAGTCCCAG 0.592000 51 7 0 0 1 0 0 OCIAD2 132299 broad.mit.edu 37 4 48906544 48906544 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:48906544C>T uc003gyt.3 - 1 226 c.23G>A c.(22-24)gGa>gAa p.G8E OCIAD2_uc003gyu.3_Missense_Mutation_p.G8E NM_001014446 NP_001014446 Q56VL3 OCAD2_HUMAN Homo sapiens OCIA domain containing 2 (OCIAD2), transcript variant 1, mRNA. 8 OCIA. endosome kidney(1)|lung(3)|skin(1)|urinary_tract(1) 6 ATCTTGGTTTCCACGAGCAGA 0.433000 55 14 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21788232 21788232 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:21788232G>A uc001wag.3 + 10 1363 c.1363G>A c.(1363-1365)Gaa>Aaa p.E455K RPGRIP1_uc001wah.3_Missense_Mutation_p.E97K|RPGRIP1_uc001wai.3_Missense_Mutation_p.E97K|RPGRIP1_uc001waj.1_5'Flank|RPGRIP1_uc001wak.3_5'Flank|RPGRIP1_uc010aim.3_5'Flank|RPGRIP1_uc001wal.3_5'Flank NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA. 455 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GCATAAACAGGAAGTAGAGCT 0.428000 22 5 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40033762 40033762 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:40033762G>A uc002xka.1 - 36 7797 c.7619C>T c.(7618-7620)cCa>cTa p.P2540L CHD6_uc002xjz.1_Missense_Mutation_p.P77L NM_032221 NP_115597 Q8TD26 CHD6_HUMAN Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA. 2540 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TGCCATGGGTGGACTGAGGAG 0.562000 103 10 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16895613 16895613 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:16895613G>A uc009vos.1 - 22 3457 c.2569C>T c.(2569-2571)Cac>Tac p.H857Y NBPF1_uc009vot.1_Missense_Mutation_p.H315Y|NBPF1_uc001ayz.1_Missense_Mutation_p.H315Y|NBPF1_uc010oce.1_Missense_Mutation_p.H586Y NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 857 NBPF 4. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTAATGAGTGAAATGTGCCG 0.502000 403 13 0 0 1 0 0 TREML5P 221438 broad.mit.edu 37 6 41217213 41217213 + RNA SNP C T T rs61734087 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:41217213C>T uc003oqe.1 + 0 c.99C>T Homo sapiens triggering receptor expressed on myeloid cells-like 2 pseudogene 1 (TREML2P1), non-coding RNA. AGCCTGGTTTCACCCAAGTCT 0.562000 59 7 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142178165 142178165 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:142178165G>A uc003yvy.3 + 12 1854 c.1576G>A c.(1576-1578)Gag>Aag p.E526K DENND3_uc010mep.3_Missense_Mutation_p.E487K|DENND3_uc003yvz.1_Missense_Mutation_p.E210K NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 526 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CTTTCCGCTGGAGAGCAAGTG 0.532000 107 6 0 0 1 0 0 MMP19 4327 broad.mit.edu 37 12 56234926 56234926 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:56234926G>A uc001sib.3 - 2 389 c.268C>T c.(268-270)Ccc>Tcc p.P90S MMP19_uc001sia.3_5'Flank|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Missense_Mutation_p.P90S NM_002429 NP_002420 Q99542 MMP19_HUMAN Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA. 90 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 TGGTTGAAGGGATCCTCTAGG 0.552000 101 11 0 0 1 0 0 ACOX1 51 broad.mit.edu 37 17 73945888 73945888 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:73945888G>A uc002jqe.3 - 9 1750 c.1389C>T c.(1387-1389)atC>atT p.I463I ACOX1_uc010wsq.2_Silent_p.I425I|ACOX1_uc010wsr.2_Silent_p.I395I|ACOX1_uc002jqf.3_Silent_p.I463I NM_004035 NP_001171968 Q15067 ACOX1_HUMAN Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA. 463 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 GCTGTGGCTGGATGCGCTGAC 0.517000 69 6 0 0 1 0 0 CLEC4G 339390 broad.mit.edu 37 19 7794808 7794808 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:7794808C>T uc002mhp.4 - 7 711 c.642G>A c.(640-642)cgG>cgA p.R214R CLEC4G_uc021uny.1_Silent_p.R202R NM_198492 NP_940894 Q6UXB4 CLC4G_HUMAN Homo sapiens C-type lectin domain family 4, member G (CLEC4G), transcript variant 1, mRNA. 214 C-type lectin. integral to membrane protein binding|sugar binding breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1) 6 CACGCGTGTTCCGAGTGAGGA 0.672000 45 11 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43702350 43702350 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:43702350C>T uc002ovy.3 - 2 610 c.508G>A c.(508-510)Gat>Aat p.D170N PSG4_uc010xwk.1_Missense_Mutation_p.D9N|PSG4_uc002ovz.3_Missense_Mutation_p.D170N|PSG4_uc002owb.3_Intron NM_002780 NP_002771 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA. 170 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GTCGCAGGATCACAGGTTAAG 0.542000 130 21 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9080501 9080501 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9080501C>T uc002mkp.3 - 1 9734 c.9530G>A c.(9529-9531)gGa>gAa p.G3177E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3178 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.A3175fs*111(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CGTGGAATTTCCTTGTGCTGC 0.498000 46 5 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542183 133542183 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:133542183C>T uc002ttp.3 - 13 2575 c.2201G>A c.(2200-2202)aGg>aAg p.R734K NCKAP5_uc002ttq.3_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 734 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CTCTTCAGACCTTTTAAAGAA 0.428000 41 7 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657899 72657899 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:72657899C>T uc003txs.1 - 12 2013 c.1085G>A c.(1084-1086)cGa>cAa p.R362Q FKBP6_uc003twz.2_Intron Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA. ggccaggtctcggatccaatc 0.478000 115 5 0 0 1 0 0 KRT36 8689 broad.mit.edu 37 17 39645993 39645993 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39645993G>A uc002hwt.3 - 0 124 c.124C>T c.(124-126)Ctc>Ttc p.L42F NM_003771 NP_003762 O76013 KRT36_HUMAN Homo sapiens keratin 36 (KRT36), mRNA. 42 Head. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) GCACCGGCGAGACTGGGGACC 0.622000 57 9 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32653147 32653147 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:32653147C>T uc001utx.3 + 1 743 c.247C>T c.(247-249)Cgt>Tgt p.R83C FRY_uc010tdw.2_Non-coding_Transcript NM_023037 NP_075463 Q5TBA9 FRY_HUMAN Homo sapiens furry homolog (Drosophila) (FRY), mRNA. 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ACGCAAGATTCGTATCATTAT 0.413000 40 6 0 0 1 0 0 SYTL2 54843 broad.mit.edu 37 11 85445407 85445407 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:85445407G>A uc010rth.2 - 5 1351 c.962C>T c.(961-963)tCt>tTt p.S321F SYTL2_uc010rtg.2_Missense_Mutation_p.S322F|SYTL2_uc010rti.2_Missense_Mutation_p.S321F|SYTL2_uc010rtj.2_Missense_Mutation_p.S273F|SYTL2_uc001pbf.4_Missense_Mutation_p.S321F|SYTL2_uc010rtf.2_Missense_Mutation_p.S179F NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA. 321 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) GTTTGGGGAAGAGTTGTCTTC 0.453000 87 6 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28101482 28101482 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:28101482G>A uc009xky.3 - 19 3192 c.3094C>T c.(3094-3096)Cgc>Tgc p.R1032C ARMC4_uc010qds.2_Silent_p.S597S|ARMC4_uc010qdt.2_Missense_Mutation_p.R724C|ARMC4_uc001itz.3_Missense_Mutation_p.R1032C NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 1032 binding p.R1032H(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GCCAGCCTGCGGATATTGGAT 0.463000 29 10 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10927562 10927562 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:10927562G>A uc003mzo.3 + 16 1698 c.1402G>A c.(1402-1404)Gag>Aag p.E468K SYCP2L_uc011din.1_Intron|SYCP2L_uc010jow.3_Missense_Mutation_p.E88K NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA. 468 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) TGACCAATCTGAGCCACCTGT 0.443000 25 8 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60511930 60511930 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:60511930G>A uc002ybn.2 + 15 2768 c.2680G>A c.(2680-2682)Gat>Aat p.D894N CDH4_uc002ybr.2_Missense_Mutation_p.D857N|CDH4_uc002ybp.2_Missense_Mutation_p.D820N NM_001794 NP_001785 P55283 CADH4_HUMAN Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA. 894 adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CCAAGACTACGATTACCTCAA 0.587000 44 13 0 0 1 0 0 WEE2 494551 broad.mit.edu 37 7 141408849 141408849 + Silent SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:141408849A>G uc003vwn.2 + 0 697 c.291A>G c.(289-291)caA>caG p.Q97Q FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA. 97 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) CACCAGCCCAACCAGACAGCA 0.527000 49 11 0 0 1 0 0 TAS2R3 50831 broad.mit.edu 37 7 141464174 141464174 + Silent SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:141464174T>C uc003vwp.1 + 0 278 c.216T>C c.(214-216)tcT>tcC p.S72S NM_016943 NP_058639 Q9NYW6 TA2R3_HUMAN Homo sapiens taste receptor, type 2, member 3 (TAS2R3), mRNA. 72 sensory perception of taste taste receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5) 14 Melanoma(164;0.0171) TAGAATTCTCTCCCAACACAC 0.398000 71 17 0 0 1 0 0 PLA2G5 5322 broad.mit.edu 37 1 20417110 20417110 + Silent SNP C T T rs144012929 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:20417110C>T uc001bcx.3 + 9 1298 c.435C>T c.(433-435)ctC>ctT p.L145L PLA2G5_uc001bcy.3_Silent_p.L114L NM_000929 NP_000920 P39877 PA2G5_HUMAN Homo sapiens phospholipase A2, group V (PLA2G5), mRNA. 114 lipid catabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity p.L114L(1) NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652) ACCGGAAGCTCGTCTACTGCC 0.567000 81 18 0 0 1 0 0 EPHA4 2043 broad.mit.edu 37 2 222347282 222347282 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:222347282C>T uc002vmq.3 - 4 1150 c.1108G>A c.(1108-1110)Gga>Aga p.G370R EPHA4_uc002vmr.2_Missense_Mutation_p.G370R|EPHA4_uc010zlm.1_Missense_Mutation_p.G311R NM_004438 NP_004429 P54764 EPHA4_HUMAN Homo sapiens EPH receptor A4 (EPHA4), mRNA. 370 Fibronectin type-III 1. G -> E (in a bladder carcinoma NOS sample; somatic mutation). integral to plasma membrane ATP binding|ephrin receptor activity p.G370E(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) TCACCAGCTCCACATTTCTTG 0.512000 73 19 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10600447 10600447 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:10600447G>A uc002moq.1 - 3 1564 c.1408C>T c.(1408-1410)Cgt>Tgt p.R470C KEAP1_uc002mop.1_Missense_Mutation_p.R188C|KEAP1_uc002mor.1_Missense_Mutation_p.R470C NM_012289 NP_987096 Q14145 KEAP1_HUMAN Homo sapiens kelch-like ECH-associated protein 1 (KEAP1), transcript variant 2, mRNA. 470 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.R470C(6)|p.R470S(2) breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) TAAAGGAGACGATTGAGGACA 0.557000 39 4 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41056227 41056227 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:41056227G>A uc002ony.3 + 21 4754 c.4668G>A c.(4666-4668)aaG>aaA p.K1556K SPTBN4_uc002onx.3_Silent_p.K1556K|SPTBN4_uc002onz.3_Silent_p.K1556K|SPTBN4_uc010egx.3_Silent_p.K299K|SPTBN4_uc010egy.1_Silent_p.K232K|SPTBN4_uc002ooa.3_Silent_p.K232K NM_020971 NP_066022 Q9H254 SPTN4_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA. 1556 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport PML body|cytosol|nuclear matrix|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACATCAAAAAGAACCAGGTGA 0.522000 56 4 0 0 1 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409013 56409013 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:56409013C>T uc001njb.1 - 0 903 c.903G>A c.(901-903)aaG>aaA p.K301K OR8U8_uc001nit.2_Intron NM_001002925 NP_001002925 Q8NGF4 O5AP2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA. 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 TTTTTACATCCTTATTTTTTA 0.343000 30 3 0 0 1 0 0 PGBD4 161779 broad.mit.edu 37 15 34396351 34396351 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:34396351G>A uc001zho.3 + 0 2078 c.1619G>A c.(1618-1620)cGc>cAc p.R540H C15orf24_uc001zhm.3_5'Flank NM_152595 NP_689808 Q96DM1 PGBD4_HUMAN Homo sapiens piggyBac transposable element derived 4 (PGBD4), mRNA. 540 breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1) 16 all_lung(180;1.76e-08) all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242) CCAACTGGTCGCTGCAAAATT 0.493000 36 6 0 0 1 0 0 DFFB 1677 broad.mit.edu 37 1 3784541 3784541 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:3784541T>C uc001alc.3 + 3 757 c.434T>C c.(433-435)tTg>tCg p.L145S DFFB_uc001ale.3_Non-coding_Transcript|DFFB_uc009vlp.3_Non-coding_Transcript|DFFB_uc001alb.3_Non-coding_Transcript|DFFB_uc010nzn.2_Missense_Mutation_p.L169S|DFFB_uc009vlq.3_Non-coding_Transcript|DFFB_uc009vlr.3_Missense_Mutation_p.L96S|DFFB_uc001ald.3_Missense_Mutation_p.L81S NM_004402 NP_004393 O76075 DFFB_HUMAN Homo sapiens DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) (DFFB), mRNA. 145 DNA fragmentation involved in apoptotic nuclear change|apoptotic chromosome condensation|intracellular signal transduction cytosol|nucleoplasm deoxyribonuclease activity|enzyme binding endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211) Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) CTTGCAGGCTTGGAGTCCCGA 0.592000 231 27 0 0 1 0 0 GMEB2 26205 broad.mit.edu 37 20 62229133 62229133 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:62229133G>A uc002yfp.1 - 3 917 c.438C>T c.(436-438)atC>atT p.I146I GMEB2_uc002yfo.1_Silent_p.I68I|GMEB2_uc002yfq.1_Silent_p.I146I NM_012384 NP_036516 Q9UKD1 GMEB2_HUMAN Homo sapiens glucocorticoid modulatory element binding protein 2 (GMEB2), mRNA. 146 SAND. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) CGTTCATGCGGATGGCTCTCT 0.592000 31 7 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13766188 13766188 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:13766188T>A uc003jfd.2 - 58 10040 c.9998A>T c.(9997-9999)aAa>aTa p.K3333I DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3333 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGCACTGACTTTCCTTTGAAA 0.498000 Kartagener syndrome 46 6 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29054225 29054225 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:29054225G>A uc002kws.3 + 14 2352 c.2243G>A c.(2242-2244)gGa>gAa p.G748E DSG3_uc002kwt.3_Missense_Mutation_p.G30E NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 748 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GCTGCTTCAGGATTCGGAGCA 0.532000 23 6 0 0 1 0 0 MAP1S 55201 broad.mit.edu 37 19 17836764 17836764 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:17836764C>T uc002nhe.1 + 4 580 c.571C>T c.(571-573)Ctc>Ttc p.L191F MAP1S_uc010eaz.2_5'UTR|MAP1S_uc010xpv.1_Missense_Mutation_p.L165F NM_018174 NP_060644 Q66K74 MAP1S_HUMAN Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA. 191 Necessary for the microtubule-organizing center localization. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse DNA binding|actin filament binding|beta-tubulin binding|microtubule binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 GGCGCTCCGGCTCCAGCTGCG 0.682000 18 7 0 0 1 0 0 RCOR2 283248 broad.mit.edu 37 11 63679817 63679817 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:63679817C>T uc001nyc.3 - 10 1605 c.1217G>A c.(1216-1218)gGg>gAg p.G406E NM_173587 NP_775858 Q8IZ40 RCOR2_HUMAN Homo sapiens REST corepressor 2 (RCOR2), mRNA. 406 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 17 CAATGGAGCCCCTCTCCTAGC 0.652000 100 9 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130283894 130283894 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:130283894G>A uc010htl.3 + 2 749 c.718G>A c.(718-720)Gga>Aga p.G240R NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 240 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GTCAATCAATGGAAGTGAGGA 0.428000 103 14 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65216835 65216835 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:65216835C>T uc001xhr.3 - 32 6691 c.6640G>A c.(6640-6642)Gag>Aag p.E2214K SPTB_uc001xhs.3_Missense_Mutation_p.E2214K|SPTB_uc010aqi.3_Missense_Mutation_p.E910K NM_001024858 NP_001020029 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 1, mRNA. 0 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) AAGGTTAGCTCACTGTTCCTG 0.537000 68 11 0 0 1 0 0 LPGAT1 9926 broad.mit.edu 37 1 211952301 211952301 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:211952301G>A uc001hiu.3 - 5 1626 c.813C>T c.(811-813)atC>atT p.I271I LPGAT1_uc001hiv.3_Silent_p.I271I NM_014873 NP_055688 Q92604 LGAT1_HUMAN Homo sapiens lysophosphatidylglycerol acyltransferase 1 (LPGAT1), mRNA. 271 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114) TGTATCCAAGGATCCAGGTTT 0.363000 104 29 0 0 1 0 0 ISX 91464 broad.mit.edu 37 22 35478537 35478537 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:35478537C>T uc003anj.3 + 1 1207 c.256C>T c.(256-258)Cgt>Tgt p.R86C NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN Homo sapiens intestine-specific homeobox (ISX), mRNA. 86 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R86C(4) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 GCGGAGGGTTCGTACCACCTT 0.557000 69 5 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127797031 127797031 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:127797031C>T uc003qbd.3 - 5 3005 c.2140G>A c.(2140-2142)Gag>Aag p.E714K KIAA0408_uc003qbc.3_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA. 714 integral to membrane CCGCTGAGCTCGTTGATCTGC 0.657000 96 16 0 0 1 0 0 NANOS2 339345 broad.mit.edu 37 19 46417850 46417850 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:46417850C>T uc002pdu.3 - 0 187 c.102G>A c.(100-102)gaG>gaA p.E34E NM_001029861 NP_001025032 P60321 NANO2_HUMAN Homo sapiens nanos homolog 2 (Drosophila) (NANOS2), mRNA. 34 germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|perinuclear region of cytoplasm RNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2) 6 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231) GCTCCTCAATCTCTTGGGTCT 0.652000 79 9 0 0 1 0 0 KCNQ1 3784 broad.mit.edu 37 11 2798227 2798227 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:2798227C>T uc001lwn.3 + 13 1805 c.1697C>T c.(1696-1698)tCc>tTc p.S566F KCNQ1_uc009ydp.1_Missense_Mutation_p.S350F|KCNQ1_uc001lwo.3_Missense_Mutation_p.S439F NM_000218 NP_000209 P51787 KCNQ1_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA. 566 S -> F (in LQT1). blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) CTGGACCAGTCCATTGGGAAG 0.597000 281 23 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80040808 80040808 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:80040808G>A uc002kdu.3 - 32 5866 c.5749C>T c.(5749-5751)Cgc>Tgc p.R1917C FASN_uc002kdv.1_5'Flank NM_004104 NP_004095 P49327 FAS_HUMAN Homo sapiens fatty acid synthase (FASN), mRNA. 1917 Beta-ketoacyl reductase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process Golgi apparatus|cytosol|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) ATCCCGGAGCGAGAAGTCAAC 0.647000 21 7 0 0 1 0 0 CLCN3 1182 broad.mit.edu 37 4 170618496 170618496 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:170618496C>T uc003ish.3 + 8 1733 c.1174C>T c.(1174-1176)Cct>Tct p.P392S CLCN3_uc003isi.3_Missense_Mutation_p.P392S|CLCN3_uc011cka.2_Missense_Mutation_p.P365S|CLCN3_uc011cjz.2_Missense_Mutation_p.P375S|CLCN3_uc003isj.2_Missense_Mutation_p.P365S NM_173872 NP_776297 P51790 CLCN3_HUMAN Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA. 392 endosomal lumen acidification Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) TGAACTGTTTCCTTTTATTCT 0.433000 55 6 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56424395 56424395 + Missense_Mutation SNP G A A rs137923694 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:56424395G>A uc010ygg.2 - 4 813 c.788C>T c.(787-789)tCc>tTc p.S263F NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 263 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GAAAACATAGGAGAACCTTTG 0.468000 40 6 0 0 1 0 0 HSD11B1 3290 broad.mit.edu 37 1 209879272 209879272 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:209879272G>A uc001hhj.3 + 2 337 c.205G>A c.(205-207)Gaa>Aaa p.E69K HSD11B1_uc021pin.1_Missense_Mutation_p.E69K|HSD11B1_uc001hhk.3_Missense_Mutation_p.E69K NM_181755 NP_861420 P28845 DHI1_HUMAN Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA. 69 glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 16 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) GAGGTCAAAAGAAACTCTACA 0.478000 21 5 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204948525 204948525 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:204948525C>T uc010prc.2 + 17 2244 c.715C>T c.(715-717)Cct>Tct p.P239S NFASC_uc001hbj.3_Missense_Mutation_p.P672S|NFASC_uc010pra.2_Missense_Mutation_p.P668S|NFASC_uc001hbi.3_Missense_Mutation_p.P668S|NFASC_uc010prb.2_Missense_Mutation_p.P683S|NFASC_uc001hbk.1_Missense_Mutation_p.P478S|NFASC_uc001hbl.2_5'Flank O94856 NFASC_HUMAN Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA. 672 axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCAGTTCCAACCTGGGGTCTG 0.527000 87 5 0 0 1 0 0 FOXD4L1 200350 broad.mit.edu 37 2 114257127 114257127 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:114257127C>T uc002tjw.4 + 0 467 c.294C>T c.(292-294)gcC>gcT p.A98A NM_012184 NP_036316 Q9NU39 FX4L1_HUMAN Homo sapiens forkhead box D4-like 1 (FOXD4L1), mRNA. 98 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2) 26 CTGCGGCGGCCTCTGAAGATG 0.682000 138 15 0 0 1 0 0 ALDH7A1 501 broad.mit.edu 37 5 125887820 125887820 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:125887820G>A uc003ktx.3 - 13 1402 c.1210C>T c.(1210-1212)Cgc>Tgc p.R404C ALDH7A1_uc003ktv.3_Missense_Mutation_p.R25C|ALDH7A1_uc011cxa.2_Missense_Mutation_p.R367C NM_001201377 NP_001188306 P49419 AL7A1_HUMAN Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA. 404 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus L-aminoadipate-semialdehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) TTTCCAGGGCGATCCATAACC 0.398000 12 4 0 0 1 0 0 FPR3 2359 broad.mit.edu 37 19 52327912 52327912 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:52327912T>C uc002pxt.1 + 1 1095 c.911T>C c.(910-912)tTt>tCt p.F304S FPR3_uc021uyq.1_Missense_Mutation_p.F304S NM_002030 NP_002021 P25089 FPR3_HUMAN Homo sapiens formyl peptide receptor 3 (FPR3), mRNA. 304 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 CTCTACGTCTTTATGGGTCGT 0.458000 29 8 0 0 1 0 0 VPS18 57617 broad.mit.edu 37 15 41192646 41192646 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:41192646C>T uc001zne.3 + 3 1969 c.1630C>T c.(1630-1632)Cat>Tat p.H544Y NM_020857 NP_065908 Q9P253 VPS18_HUMAN Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA. 544 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GGCCTCTATCCATGAGCTGCT 0.562000 151 9 0 0 1 0 0 PI3 5266 broad.mit.edu 37 20 43804646 43804646 + Missense_Mutation SNP C T T rs148103941 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:43804646C>T uc002xng.3 + 1 248 c.224C>T c.(223-225)tCc>tTc p.S75F NM_002638 NP_002629 P19957 ELAF_HUMAN Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA. 75 WAP. copulation proteinaceous extracellular matrix serine-type endopeptidase inhibitor activity large_intestine(1)|lung(5)|skin(1) 7 Myeloproliferative disorder(115;0.0122) AAGCCTGGCTCCTGCCCCATT 0.488000 41 10 0 0 1 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378319 31378319 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:31378319G>A uc003tch.3 - 1 917 c.564C>T c.(562-564)ttC>ttT p.F188F NEUROD6_uc022abi.1_Silent_p.F188F NM_022728 NP_073565 Q96NK8 NDF6_HUMAN Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA. 188 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.F188S(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 GACCCATCAGGAAACTCCTGG 0.567000 66 7 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11364996 11364996 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:11364996G>A uc003jfa.1 - 7 1329 c.1184C>T c.(1183-1185)tCc>tTc p.S395F CTNND2_uc010itt.2_Missense_Mutation_p.S304F|CTNND2_uc011cmy.1_Missense_Mutation_p.S58F|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_5'UTR NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 395 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TGAGGCTCGGGAACCAGCTGA 0.488000 66 13 0 0 1 0 0 PSAPL1 768239 broad.mit.edu 37 4 7435764 7435764 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:7435764C>T uc011bwj.2 - 0 937 c.843G>A c.(841-843)agG>agA p.R281R SORCS2_uc003gkb.4_Intron|SORCS2_uc011bwi.2_Intron NM_001085382 NP_001078851 Q6NUJ1 SAPL1_HUMAN Homo sapiens prosaposin-like 1 (gene/pseudogene) (PSAPL1), mRNA. 281 sphingolipid metabolic process extracellular region|lysosome lung(4) 4 CGCTCTGTTTCCTTGGCAACC 0.602000 36 4 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179568878 179568878 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:179568878G>A uc021vsy.1 - 102 26712 c.26487C>T c.(26485-26487)atC>atT p.I8829I TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I5490I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 9756 Ig-like 71. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACGCACCTTCGATTCTGAGTT 0.468000 99 13 0 0 1 0 0 FAM113B 91523 broad.mit.edu 37 12 47629323 47629323 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:47629323C>T uc001rpq.3 + 1 1002 c.477C>T c.(475-477)ctC>ctT p.L159L FAM113B_uc001rpn.3_Silent_p.L159L|FAM113B_uc021qxi.1_Silent_p.L159L NM_138371 NP_612380 Q96HM7 F113B_HUMAN Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA. 159 hydrolase activity p.L159L(2) NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10) 35 Renal(347;0.138)|Lung SC(27;0.192) AGTCTTGCCTCCTGGTGTGGA 0.612000 39 6 0 0 1 0 0 PENK 5179 broad.mit.edu 37 8 57354177 57354177 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:57354177G>A uc003xsz.2 - 1 539 c.458C>T c.(457-459)tCc>tTc p.S153F PENK_uc003xta.3_Missense_Mutation_p.S153F NM_006211 NP_006202 P01210 PENK_HUMAN Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA. 153 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity p.S153C(2) central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) CAGGTCTGAGGAATTGGCCAG 0.527000 108 7 0 0 1 0 0 HOXA13 3209 broad.mit.edu 37 7 27238898 27238898 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:27238898C>T uc003szb.1 - 0 828 c.799G>A c.(799-801)Gaa>Aaa p.E267K HOTTIP_uc022aau.1_5'Flank NM_000522 NP_000513 P31271 HXA13_HUMAN Homo sapiens homeobox A13 (HOXA13), mRNA. 267 skeletal system development nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 6 CCCAAGGGTTCGTGGCGCGAC 0.677000 T NUP98 AML 39 4 0 0 1 0 0 RASD2 23551 broad.mit.edu 37 22 35947882 35947882 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:35947882C>T uc003anx.3 + 2 809 c.604C>T c.(604-606)Cgc>Tgc p.R202C RASD2_uc003any.3_Missense_Mutation_p.R202C NM_014310 NP_055125 Q96D21 RHES_HUMAN Homo sapiens RASD family, member 2 (RASD2), mRNA. 202 Interaction with GNB1, GNB2 and GNB3. locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 CGCCCTGCATCGCAAGATCTC 0.612000 41 5 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10928671 10928671 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:10928671C>T uc003mzo.3 + 17 1772 c.1476C>T c.(1474-1476)ttC>ttT p.F492F SYCP2L_uc011din.1_Intron|SYCP2L_uc010jow.3_Silent_p.F112F NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA. 492 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) tccctgacttcccgcaacaAC 0.498000 35 5 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155742921 155742921 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:155742921G>A uc001flz.2 - 17 2528 c.2431C>T c.(2431-2433)Cca>Tca p.P811S GON4L_uc021paz.1_Intron|GON4L_uc001fly.1_Missense_Mutation_p.P811S|GON4L_uc009wrh.1_Missense_Mutation_p.P811S|GON4L_uc001fma.1_Missense_Mutation_p.P811S|GON4L_uc001fmb.4_Missense_Mutation_p.P7S|GON4L_uc001fmc.3_Missense_Mutation_p.P811S|GON4L_uc001fmd.4_Missense_Mutation_p.P811S|GON4L_uc009wri.3_Missense_Mutation_p.P397S NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA. 811 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GAACACACTGGAAGTAACTCT 0.443000 69 6 0 0 1 0 0 SLTM 79811 broad.mit.edu 37 15 59179696 59179696 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:59179696G>A uc002afp.3 - 17 2507 c.2419C>T c.(2419-2421)Cct>Tct p.P807S SLTM_uc002afn.3_Missense_Mutation_p.P349S|SLTM_uc002afo.3_Missense_Mutation_p.P789S|SLTM_uc002afq.3_Missense_Mutation_p.P376S|SLTM_uc010bgd.3_Missense_Mutation_p.P376S NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA. 807 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|nucleotide binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CGTGCAGTAGGTCGTGCTTTT 0.418000 74 5 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30702528 30702528 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:30702528G>A uc003xil.3 - 0 4006 c.4006C>T c.(4006-4008)Cag>Tag p.Q1336* NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 1336 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GCTGATAACTGAGGAATACTG 0.383000 45 5 0 0 1 0 0 ACSS2 55902 broad.mit.edu 37 20 33509371 33509371 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:33509371C>T uc010gey.2 + 12 1595 c.1474C>T c.(1474-1476)Cct>Tct p.P492S ACSS2_uc002xbc.2_Missense_Mutation_p.P384S|ACSS2_uc010zum.1_Intron|ACSS2_uc002xbd.2_Missense_Mutation_p.P479S|ACSS2_uc002xbe.2_Missense_Mutation_p.P187S NM_001076552 NP_001070020 Q9NR19 ACSA_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA. 479 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus ATP binding|acetate-CoA ligase activity|protein binding cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9) 21 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GACTCCCCTTCCTGGTGCCAC 0.562000 122 15 0 0 1 0 0 ZNF446 55663 broad.mit.edu 37 19 58988660 58988660 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:58988660C>T uc002qsz.3 + 1 192 c.75C>T c.(73-75)gcC>gcT p.A25A ZNF446_uc002qta.3_Silent_p.A25A|ZNF446_uc010eur.3_Silent_p.A25A NM_017908 NP_060378 Q9NWS9 ZN446_HUMAN Homo sapiens zinc finger protein 446 (ZNF446), mRNA. 25 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CTGAGACTGCCCGCCTCCGCT 0.657000 117 9 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70331667 70331667 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:70331667G>A uc001oqc.3 - 20 4645 c.4533C>T c.(4531-4533)atC>atT p.I1511I SHANK2_uc010rqn.2_Silent_p.I987I|SHANK2_uc001opz.3_Silent_p.I982I|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 1198 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) cgggcggggggATAACAAAGC 0.577000 72 10 0 0 1 0 0 DPPA4 55211 broad.mit.edu 37 3 109046861 109046861 + Silent SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:109046861A>G uc003dxq.4 - 6 944 c.889T>C c.(889-891)Tta>Cta p.L297L DPPA4_uc011bho.2_3'UTR NM_018189 NP_060659 Q7L190 DPPA4_HUMAN Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA. 297 nucleus protein binding p.V296V(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 CTTTTTATTAAGACCTTGTTC 0.353000 134 11 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92760565 92760565 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:92760565C>T uc003umh.1 - 4 5936 c.4720G>A c.(4720-4722)Gaa>Aaa p.E1574K SAMD9L_uc003umj.1_Missense_Mutation_p.E1574K|SAMD9L_uc003umi.1_Missense_Mutation_p.E1574K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E1574K|SAMD9L_uc003umk.1_Missense_Mutation_p.E1574K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E1574K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E1574K|SAMD9L_uc022ahh.1_Missense_Mutation_p.E1574K NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 1574 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AGAGGGCCTTCAATGGAAAAT 0.323000 7 3 0 0 1 0 0 LGI2 55203 broad.mit.edu 37 4 25005525 25005525 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:25005525G>A uc003grf.2 - 7 1285 c.1186C>T c.(1186-1188)Ccc>Tcc p.P396S NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA. 396 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) AGGATGATGGGGACCTGGGAG 0.517000 83 5 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123814360 123814360 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:123814360G>A uc010sab.2 - 0 186 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) AATTCCGCAGGAAGAAGTACA 0.488000 43 8 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10293807 10293808 + Missense_Mutation DNP CT TA TA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:10293807_10293808CT>TA uc002gmm.2 - 39 5872_5873 c.5777_5778AG>TA c.(5776-5778)aag>aTA p.K1926I AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1926 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CCTCTCGGCTCTTCACTCGCAA 0.470000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 116 9 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169644566 169644566 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:169644566C>T uc003fgd.3 + 5 783 c.516C>T c.(514-516)caC>caT p.H172H SAMD7_uc003fge.3_Silent_p.H172H|SAMD7_uc011bpo.2_Silent_p.H73H NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 172 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) CTGCACCACACTTTGAGGAGA 0.522000 64 4 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65261237 65261237 + Silent SNP C A A rs141777371 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:65261237C>A uc001xht.3 - 11 1794 c.1743G>T c.(1741-1743)ggG>ggT p.G581G SPTB_uc001xhr.3_Silent_p.G581G|SPTB_uc001xhs.3_Silent_p.G581G|SPTB_uc001xhu.3_Silent_p.G581G NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 581 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TCACTTTGTCCCCTTGGATGG 0.542000 155 17 3.52763e-06 3.57082e-06 1 1 0 TCRA 0 broad.mit.edu 37 14 22265852 22265852 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:22265852C>T uc010air.1 + 1 267 c.135C>T c.(133-135)tcC>tcT p.S45S TRA_uc021rpa.1_Intron Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: SEB 172. GCAACTATTCCTATGGTGGAA 0.478000 58 4 0 0 1 0 0 INHBC 3626 broad.mit.edu 37 12 57828693 57828693 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:57828693C>T uc001snv.1 + 0 151 c.24C>T c.(22-24)gcC>gcT p.A8A NM_005538 NP_005529 P55103 INHBC_HUMAN Homo sapiens inhibin, beta C (INHBC), mRNA. 8 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1) 16 TGCTTCTGGCCTTTCTCCTCC 0.602000 30 5 0 0 1 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18636190 18636190 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:18636190G>A uc001moy.3 - 2 1847 c.1631C>T c.(1630-1632)tCc>tTc p.S544F SPTY2D1_uc010rdi.1_Missense_Mutation_p.S544F NM_194285 NP_919261 Q68D10 SPT2_HUMAN Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA. 544 Ser-rich. breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 GATATTCTTGGAAGAAATTGT 0.498000 80 15 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022436 51022436 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:51022436G>A uc002pss.3 - 2 671 c.534C>T c.(532-534)ttC>ttT p.F178F NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA. 178 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GCACGCGGTTGAAGGCGTAGG 0.672000 38 7 0 0 1 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65726390 65726390 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:65726390G>A uc001ogk.1 + 6 1388 c.1356G>A c.(1354-1356)gcG>gcA p.A452A TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Non-coding_Transcript|SART1_uc009yqy.1_5'Flank|SART1_uc010rot.1_5'Flank|SART1_uc001ogl.3_5'Flank NM_152762 NP_689975 Q3SY00 T10IP_HUMAN Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA. 453 endometrium(2)|kidney(3)|lung(9) 14 AGTACCAGGCGGAGCTGCAAG 0.622000 59 8 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234879000 234879000 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:234879000C>T uc002vvh.3 + 16 2325 c.2285C>T c.(2284-2286)tCg>tTg p.S762L TRPM8_uc010fyj.3_Intron NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA. 762 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GATTTCCATTCGGTGCCACAC 0.567000 294 70 0 0 1 0 0 CAPN7 23473 broad.mit.edu 37 3 15265034 15265034 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:15265034C>T uc003bzn.3 + 5 961 c.691C>T c.(691-693)Ctg>Ttg p.L231L NM_014296 NP_055111 Q9Y6W3 CAN7_HUMAN Homo sapiens calpain 7 (CAPN7), mRNA. 231 proteolysis nucleus calcium-dependent cysteine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2) 22 GAATGTTGACCTGAGAGAACG 0.318000 45 4 0 0 1 0 0 PIWIL3 440822 broad.mit.edu 37 22 25150021 25150021 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:25150021C>T uc003abd.1 - 7 1354 c.937G>A c.(937-939)Gaa>Aaa p.E313K PIWIL3_uc011ajx.1_Missense_Mutation_p.E204K|PIWIL3_uc010gut.1_Missense_Mutation_p.E313K|PIWIL3_uc011ajy.1_Missense_Mutation_p.E204K NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA. 313 PAZ. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TTAGTTACTTCCTCTCGGATG 0.428000 60 4 0 0 1 0 0 ZNF816 125893 broad.mit.edu 37 19 53453521 53453521 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:53453521G>A uc002qal.2 - 4 1858 c.1507C>T c.(1507-1509)Cat>Tat p.H503Y ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Missense_Mutation_p.H503Y|ZNF816_uc002qam.2_Missense_Mutation_p.H503Y NM_001031665 NP_001189386 Q0VGE8 ZN816_HUMAN Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA. 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 TCTCCAGCATGAAGTCTATGA 0.398000 50 5 0 0 1 0 0 AMHR2 269 broad.mit.edu 37 12 53823296 53823296 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:53823296G>A uc001scx.2 + 7 1107 c.1027G>A c.(1027-1029)Gaa>Aaa p.E343K AMHR2_uc009zmy.2_Missense_Mutation_p.E343K|AMHR2_uc021qyg.1_Missense_Mutation_p.E343K NM_020547 NP_065434 Q16671 AMHR2_HUMAN Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA. 343 Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) GCTCATTCGGGAAGATGGATC 0.562000 37 4 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127336235 127336235 + Silent SNP C T T rs141735401 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:127336235C>T uc003ejp.3 + 10 1944 c.1887C>T c.(1885-1887)gcC>gcT p.A629A MCM2_uc011bkm.2_Silent_p.A499A|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Silent_p.A582A NM_004526 NP_004517 P49736 MCM2_HUMAN Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA. 629 MCM. DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex|chromatin ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 TCATTGCTGCCGCCAACCCCA 0.642000 15 3 0 0 1 0 0 TMEM110-MUSTN1 100526772 broad.mit.edu 37 3 52876860 52876861 + Missense_Mutation DNP CC TA TA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:52876860_52876861CC>TA uc003dgc.4 - 6 865_866 c.734_735GG>TA c.(733-735)cgg>cTA p.R245L TMEM110-MUSTN1_uc003dgb.4_5'UTR|TMEM110-MUSTN1_uc003dgd.3_Missense_Mutation_p.R245L NM_001198974 NP_001185903 Homo sapiens TMEM110-MUSTN1 readthrough (TMEM110-MUSTN1), mRNA. ATGCGGCCCTCCGGTAGCGGAC 0.589000 43 5 0 0 1 0 0 TNFAIP6 7130 broad.mit.edu 37 2 152230082 152230082 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:152230082C>T uc002txk.3 + 4 718 c.643C>T c.(643-645)Cca>Tca p.P215S FW340097_uc021vqy.1_Intron NM_007115 NP_009046 P98066 TSG6_HUMAN Homo sapiens tumor necrosis factor, alpha-induced protein 6 (TNFAIP6), mRNA. 215 CUB. cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.131) AGATGAGCTTCCAGATGACAT 0.338000 67 5 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98375486 98375486 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:98375486G>A uc002syh.4 - 39 5466 c.5237C>T c.(5236-5238)tCg>tTg p.S1746L TMEM131_uc002syg.3_Missense_Mutation_p.S126L NM_015348 NP_056163 Q92545 TM131_HUMAN Homo sapiens transmembrane protein 131 (TMEM131), mRNA. 1746 Ser-rich. integral to membrane p.S1633L(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 CTGATTGCACGATCGAGATAA 0.483000 81 10 0 0 1 0 0 RBM46 166863 broad.mit.edu 37 4 155719082 155719082 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:155719082C>T uc003ioo.3 + 2 444 c.271C>T c.(271-273)Cga>Tga p.R91* RBM46_uc011cim.1_Nonsense_Mutation_p.R91*|RBM46_uc003iop.1_Nonsense_Mutation_p.R91* NM_144979 NP_659416 Q8TBY0 RBM46_HUMAN Homo sapiens RNA binding motif protein 46 (RBM46), mRNA. 91 RRM 1. RNA binding|nucleotide binding p.R91Q(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) ATATGAATTTCGACTTATGAT 0.343000 30 4 0 0 1 0 0 MORN4 118812 broad.mit.edu 37 10 99377008 99377008 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:99377008G>A uc001koc.4 - 1 313 c.313C>T c.(313-315)Ctc>Ttc p.L105F PI4K2A_uc010qoy.1_Intron|MORN4_uc001kob.4_Missense_Mutation_p.L47F|MORN4_uc001kod.4_3'UTR|MORN4_uc001koe.3_Missense_Mutation_p.L47F|AX746617_uc001kof.1_5'Flank NM_178832 NP_849154 Q8NDC4 MORN4_HUMAN Homo sapiens MORN repeat containing 4 (MORN4), transcript variant 1, mRNA. 47 large_intestine(1)|lung(1)|stomach(2) 4 CCATTAAAGAGCCCATTCTCA 0.463000 179 6 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248343409 248343409 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:248343409G>A uc010pzf.2 + 0 122 c.122G>A c.(121-123)gGa>gAa p.G41E NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M40I(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCCTTCATGGGAAACTCTGTC 0.517000 109 13 0 0 1 0 0 CEP112 201134 broad.mit.edu 37 17 64092741 64092741 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:64092741G>A uc002jfl.3 - 6 871 c.652C>T c.(652-654)Cct>Tct p.P218S CEP112_uc002jfm.3_Missense_Mutation_p.P218S|CEP112_uc010dep.2_Intron NM_145036 NP_659473 Q8N8E3 CE112_HUMAN Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA. 218 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 AGGTATCGAGGATTTTCTATC 0.279000 8 3 0 0 1 0 0 KRT72 140807 broad.mit.edu 37 12 52980754 52980754 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:52980754C>T uc001sar.2 - 7 1407 c.1321G>A c.(1321-1323)Gaa>Aaa p.E441K KRT72_uc001saq.2_Missense_Mutation_p.E441K|KRT72_uc010sns.1_Missense_Mutation_p.E399K|KRT72_uc010snt.1_Missense_Mutation_p.E253K NM_001146225 NP_542785 Q14CN4 K2C72_HUMAN Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA. 441 Tail. keratin filament structural molecule activity p.G440G(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) TTTGGATATTCGCCAGACATC 0.453000 34 8 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43895433 43895433 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:43895433C>T uc001cjk.2 + 27 4139 c.1529C>T c.(1528-1530)cCa>cTa p.P510L NM_015284 NP_056099 Q5T011 SZT2_HUMAN Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA. 1409 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CCTGGCATTCCAGACCCTGGG 0.552000 74 5 0 0 1 0 0 KCNQ4 9132 broad.mit.edu 37 1 41304053 41304053 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:41304053C>T uc001cgh.2 + 13 2028 c.1946C>T c.(1945-1947)tCg>tTg p.S649L KCNQ4_uc001cgi.2_Missense_Mutation_p.S595L NM_004700 NP_004691 P56696 KCNQ4_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA. 649 A-domain (Tetramerization). sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) TCTGGCACCTCGGCCAGCCTG 0.667000 149 16 0 0 1 0 0 LZTFL1 54585 broad.mit.edu 37 3 45874579 45874579 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:45874579G>A uc003cox.1 - 4 557 c.419C>T c.(418-420)cCa>cTa p.P140L LZTFL1_uc003coy.1_Missense_Mutation_p.P123L|LZTFL1_uc011bak.1_Non-coding_Transcript NM_020347 NP_065080 Q9NQ48 LZTL1_HUMAN Homo sapiens leucine zipper transcription factor-like 1 (LZTFL1), mRNA. 140 endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 8 BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) TTCATTAAGTGGAGCAAGTTT 0.373000 72 4 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56223854 56223854 + Silent SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:56223854T>A uc002qly.3 - 6 2632 c.2604A>T c.(2602-2604)atA>atT p.I868I NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA. 868 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CAGTGTCTCCTATTTCATTAT 0.438000 36 4 0 0 1 0 0 SYPL2 284612 broad.mit.edu 37 1 110020512 110020512 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:110020512G>A uc001dxp.3 + 4 895 c.529G>A c.(529-531)Gat>Aat p.D177N SYPL2_uc001dxo.2_Missense_Mutation_p.D177N|SYPL2_uc010ovk.2_Intron|SYPL2_uc001dxq.2_Missense_Mutation_p.D85N NM_001040709 NP_001035799 Q5VXT5 SYPL2_HUMAN Homo sapiens synaptophysin-like 2 (SYPL2), mRNA. 177 MARVEL. integral to membrane|synaptic vesicle transporter activity breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) GGGCCTGACCGATGTCAAGGG 0.607000 616 65 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1577738 1577738 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:1577738G>A uc002fte.3 - 20 3411 c.3297C>T c.(3295-3297)ttC>ttT p.F1099F NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA. 1099 U5 snRNP|catalytic step 2 spliceosome|nuclear speck RNA binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GCCCTCACCTGAAAAAAATAT 0.478000 97 13 0 0 1 0 0 CTPS1 1503 broad.mit.edu 37 1 41450608 41450608 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:41450608C>T uc001cgk.4 + 2 790 c.282C>T c.(280-282)taC>taT p.Y94Y CTPS1_uc010ojo.2_Intron|CTPS1_uc010ojp.1_Silent_p.Y101Y|CTPS1_uc001cgl.4_Silent_p.Y94Y NM_001905 NP_001896 P17812 PYRG1_HUMAN Homo sapiens CTP synthase (CTPS), mRNA. 94 CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding endometrium(3)|lung(10) 13 L-Glutamine(DB00130) GAAAGATATACCAGTATGTCA 0.423000 92 14 0 0 1 0 0 KRT36 8689 broad.mit.edu 37 17 39643881 39643881 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39643881C>T uc002hwt.3 - 3 808 c.808G>A c.(808-810)Gag>Aag p.E270K NM_003771 NP_003762 O76013 KRT36_HUMAN Homo sapiens keratin 36 (KRT36), mRNA. 270 Coil 2.|Rod. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) ACCAGGGCCTCGTACTGGCAT 0.602000 86 8 0 0 1 0 0 IQCG 84223 broad.mit.edu 37 3 197670688 197670688 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:197670688G>A uc003fyo.3 - 2 389 c.243C>T c.(241-243)atC>atT p.I81I IQCG_uc003fyp.3_Silent_p.I81I|IQCG_uc003fyq.4_Silent_p.I81I NM_001134435 NP_115639 Q9H095 IQCG_HUMAN Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA. 81 p.I81V(1) autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) GAACGGGCATGATGTAGTTCA 0.463000 87 8 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15835522 15835522 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:15835522G>A uc002ddx.3 - 22 2785 c.2678C>T c.(2677-2679)aCc>aTc p.T893I MYH11_uc002ddv.3_Missense_Mutation_p.T893I|MYH11_uc002ddw.3_Missense_Mutation_p.T886I|MYH11_uc002ddy.3_Missense_Mutation_p.T886I|MYH11_uc010bvg.3_Missense_Mutation_p.T718I NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 886 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CTTCTCCTCGGTCAGCTGCAC 0.637000 T CBFB AML 88 8 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171240260 171240260 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:171240260C>T uc002ufy.3 + 11 1369 c.1226C>T c.(1225-1227)cCc>cTc p.P409L MYO3B_uc002ufv.3_Missense_Mutation_p.P396L|MYO3B_uc010fqb.1_Missense_Mutation_p.P409L|MYO3B_uc002ufz.3_Missense_Mutation_p.P409L|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA. 409 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex ATP binding|actin binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GCCTCCAATCCCCCCCACATA 0.463000 15 4 0 0 1 0 0 RFPL3 10738 broad.mit.edu 37 22 32754262 32754262 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:32754262G>A uc003amj.3 + 0 409 c.204G>A c.(202-204)caG>caA p.Q68Q RFPL3_uc010gwn.3_Silent_p.Q39Q NM_001098535 NP_006595 O75679 RFPL3_HUMAN Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA. 68 zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 ATTCGCTGCAGAAGGAGCCCC 0.537000 55 16 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11188075 11188075 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:11188075G>A uc001asd.3 - 42 6140 c.6019C>T c.(6019-6021)Cag>Tag p.Q2007* MTOR_uc001asc.3_Nonsense_Mutation_p.Q212* NM_004958 NP_004949 P42345 MTOR_HUMAN Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA. 2007 T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity p.V2006L(1)|p.V2006F(1) breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 ATGGCCTGCTGGACCAGGGTG 0.557000 111 47 0 0 1 0 0 CCR4 1233 broad.mit.edu 37 3 32995868 32995868 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:32995868C>T uc003cfg.1 + 1 1122 c.954C>T c.(952-954)ctC>ctT p.L318L CCR4_uc021wuw.1_Silent_p.L318L NM_005508 NP_005499 P51679 CCR4_HUMAN Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA. 318 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 TCCTACAGCTCTTCAAAACCT 0.493000 61 5 0 0 1 0 0 LDB3 11155 broad.mit.edu 37 10 88466428 88466429 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:88466428_88466429CC>TT uc001kdv.3 + 6 1060_1061 c.1037_1038CC>TT c.(1036-1038)gcc>gTT p.A346V LDB3_uc010qml.1_Intron|LDB3_uc010qmm.2_Intron|LDB3_uc009xsz.3_Intron|LDB3_uc001kdu.3_Intron NM_007078 NP_009009 O75112 LDB3_HUMAN Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA. 346 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 ACTGCCATCGCCTCCGCCTCCA 0.688000 38 6 0 0 1 0 0 BEST4 266675 broad.mit.edu 37 1 45253068 45253068 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:45253068G>A uc001cmm.3 - 1 272 c.223C>T c.(223-225)Ctc>Ttc p.L75F NM_153274 NP_695006 Q8NFU0 BEST4_HUMAN Homo sapiens bestrophin 4 (BEST4), mRNA. 75 chloride channel complex|plasma membrane chloride channel activity large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) AAGGGAATGAGGTCTGCTGAG 0.572000 130 27 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36995237 36995237 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:36995237G>A uc010jwp.1 + 14 1809 c.1638G>A c.(1636-1638)ctG>ctA p.L546L FGD2_uc003ong.2_Silent_p.L268L|FGD2_uc011dtv.1_Silent_p.L174L|FGD2_uc003onj.1_Silent_p.L123L NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA. 546 PH 2. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 ACCAGAGCCTGATGTGCAGCT 0.622000 109 7 0 0 1 0 0 CEACAM7 1087 broad.mit.edu 37 19 42187819 42187819 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:42187819G>A uc002ori.1 - 2 605 c.603C>T c.(601-603)ctC>ctT p.L201L CEACAM7_uc010ehx.2_Silent_p.L201L|CEACAM7_uc010ehy.1_Intron NM_006890 NP_008821 Q14002 CEAM7_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA. 201 Ig-like C2-type. anchored to membrane|integral to membrane|plasma membrane p.L201L(2) breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) TGAGTAGAACGAGGGTCCTGT 0.537000 87 5 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100523341 100523341 + Missense_Mutation SNP A C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:100523341A>C uc003yiv.3 + 28 4420 c.4309A>C c.(4309-4311)Aaa>Caa p.K1437Q VPS13B_uc003yiw.3_Missense_Mutation_p.K1412Q|VPS13B_uc003yix.1_Missense_Mutation_p.K907Q NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 1437 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GACAACTACAAAACTTCTAGA 0.333000 28 3 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800783 185800783 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:185800783G>A uc002uph.3 + 3 1254 c.660G>A c.(658-660)aaG>aaA p.K220K NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 220 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 CATTTCCAAAGAAAGCGTCCG 0.423000 18 4 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590839 140590839 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140590839C>T uc003liz.3 + 0 2549 c.2360C>T c.(2359-2361)cCc>cTc p.P787L PCDHB12_uc011dak.2_Missense_Mutation_p.P450L|PCDHB13_uc003lja.1_5'Flank NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 787 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.P787L(2) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAGAAAATCCCCCATTTCAG 0.373000 30 6 0 0 1 0 0 C1orf226 400793 broad.mit.edu 37 1 162353002 162353002 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:162353002G>A uc010pkt.1 + 2 485 c.477G>A c.(475-477)ctG>ctA p.L159L C1orf226_uc001gby.2_Silent_p.L116L NM_001135240 NP_001128712 A1L170 CA226_HUMAN Homo sapiens chromosome 1 open reading frame 226 (C1orf226), transcript variant 1, mRNA. 116 central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 TTCCTCGGCTGGATCCTCCAC 0.517000 35 6 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10428187 10428187 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:10428187G>A uc010coi.3 - 33 4986 c.4858C>T c.(4858-4860)Ctc>Ttc p.L1620F AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.L1620F|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1620 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.R1619M(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TTCTTCTTGAGCCTAATGGCA 0.502000 71 8 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42237081 42237081 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:42237081C>T uc003ose.2 - 4 811 c.248G>A c.(247-249)gGa>gAa p.G83E TRERF1_uc011duq.1_Missense_Mutation_p.G83E|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Missense_Mutation_p.G83E NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 83 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TCCCCACCCTCCCTGCCTCGA 0.597000 90 18 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9056230 9056230 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9056230C>T uc002mkp.3 - 2 31420 c.31216G>A c.(31216-31218)Gag>Aag p.E10406K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10408 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTTCCCAGCTCAACGCTCTCT 0.483000 60 8 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5897495 5897495 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:5897495C>T uc002wmg.3 + 2 426 c.120C>T c.(118-120)gtC>gtT p.V40V CHGB_uc010zqz.2_5'UTR NM_001819 NP_001810 P05060 SCG1_HUMAN Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA. 40 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 TCATTGAGGTCCTCTCAAATG 0.562000 68 5 0 0 1 0 0 CPZ 8532 broad.mit.edu 37 4 8621189 8621189 + Missense_Mutation SNP G A A rs151079768 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:8621189G>A uc003glm.3 + 10 1978 c.1804G>A c.(1804-1806)Gac>Aac p.D602N CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.D591N|CPZ_uc003gln.3_Missense_Mutation_p.D465N NM_001014447 NP_001014448 Q66K79 CBPZ_HUMAN Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA. 602 Wnt receptor signaling pathway|proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGGGCCCCACGACCCACTGGG 0.677000 49 8 0 0 1 0 0 TEX101 83639 broad.mit.edu 37 19 43922367 43922367 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:43922367G>A uc002owk.3 + 8 1183 c.622G>A c.(622-624)Ggc>Agc p.G208S TEX101_uc010xwo.2_Missense_Mutation_p.G190S NM_031451 NP_001123483 Q9BY14 TX101_HUMAN Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA. 190 anchored to membrane|plasma membrane large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) AGCCATGATTGGCTGCAGGCT 0.502000 73 10 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138967807 138967807 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:138967807C>T uc011kqr.2 + 14 2156 c.2156C>T c.(2155-2157)tCc>tTc p.S719F NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN Homo sapiens ubinuclein 2 (UBN2), mRNA. 719 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 ACTCCAACATCCCTGGTGGCT 0.443000 22 4 0 0 1 0 0 CSHL1 1444 broad.mit.edu 37 17 61988171 61988171 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:61988171G>A uc002jda.1 - 1 186 c.124C>T c.(124-126)Caa>Taa p.Q42* CSHL1_uc002jcz.1_Nonsense_Mutation_p.Q42*|CSHL1_uc002jdb.1_Intron|CSHL1_uc002jdc.1_Intron|CSHL1_uc002jdd.1_Intron|CSHL1_uc021ubn.1_Nonsense_Mutation_p.Q3* NM_022579 NP_001309 Q14406 CSHL_HUMAN Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA. 42 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 CGATGGGCTTGGAGCATAGCC 0.572000 139 8 0 0 1 0 0 PLIN5 440503 broad.mit.edu 37 19 4523854 4523854 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:4523854C>T uc002mas.3 - 7 1131 c.1078G>A c.(1078-1080)Gag>Aag p.E360K NM_001013706 NP_001013728 Q00G26 PLIN5_HUMAN Homo sapiens perilipin 5 (PLIN5), mRNA. 360 lipid particle endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 TCCAGCAGCTCGTCCACGCAG 0.751000 21 4 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67079070 67079070 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:67079070C>T uc002jhw.1 - 35 4735 c.4560G>A c.(4558-4560)gtG>gtA p.V1520V NM_080284 NP_525023 Q8N139 ABCA6_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA. 1520 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) GGACCAAAGTCACTTGAGACG 0.448000 163 8 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48266794 48266794 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:48266794G>A uc002iqm.3 - 38 2899 c.2773C>T c.(2773-2775)Cct>Tct p.P925S NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 925 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding p.P924L(2) COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GGGGGACCAGGGGGACCAACT 0.647000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 77 10 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36871143 36871143 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:36871143C>T uc003cgj.3 - 21 8837 c.8589G>A c.(8587-8589)gcG>gcA p.A2863A NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2863 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GCCGAGTCATCGCCTCCTCCG 0.488000 44 8 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70333466 70333466 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:70333466G>A uc001oqc.3 - 20 2846 c.2734C>T c.(2734-2736)Cgc>Tgc p.R912C SHANK2_uc010rqn.2_Missense_Mutation_p.R388C|SHANK2_uc001opz.3_Missense_Mutation_p.R383C|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 599 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CTCTTGTTGCGGAAGTTGGCT 0.597000 68 9 0 0 1 0 0 PAEP 5047 broad.mit.edu 37 9 138457276 138457276 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:138457276G>A uc004cge.1 + 4 486 c.442G>A c.(442-444)Gat>Aat p.D148N PAEP_uc010nba.1_Missense_Mutation_p.D111N|PAEP_uc004cgd.1_Missense_Mutation_p.D148N|PAEP_uc011mdp.1_Missense_Mutation_p.D126N|PAEP_uc004cgg.1_Missense_Mutation_p.D148N|PAEP_uc004cgf.1_Missense_Mutation_p.D148N NM_001018049 NP_002562 P09466 PAEP_HUMAN Homo sapiens progestagen-associated endometrial protein (PAEP), transcript variant 1, mRNA. 148 multicellular organismal development extracellular region binding|transporter activity cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1) 6 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) GGTGGAGGACGATGAGATCAT 0.602000 35 5 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42231174 42231174 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:42231174C>T uc002orl.3 + 8 2168 c.2047C>T c.(2047-2049)Ctc>Ttc p.L683F CEACAM5_uc002orj.1_Missense_Mutation_p.L682F NM_004363 NP_004354 P06731 CEAM5_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA. 683 anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TTCTCCTGGTCTCTCAGCTGG 0.498000 399 24 0 0 1 0 0 MMS19 64210 broad.mit.edu 37 10 99226606 99226606 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:99226606C>T uc001kns.4 - 14 1575 c.1350G>A c.(1348-1350)atG>atA p.M450I MMS19_uc009xvs.3_Missense_Mutation_p.M35I|MMS19_uc009xvt.3_Missense_Mutation_p.M194I|MMS19_uc001knr.3_Missense_Mutation_p.M292I|MMS19_uc010qox.2_Missense_Mutation_p.M428I|MMS19_uc001knt.3_Missense_Mutation_p.M450I|MMS19_uc001knu.1_Non-coding_Transcript NM_022362 NP_071757 Q96T76 MMS19_HUMAN Homo sapiens MMS19 nucleotide excision repair homolog (S. cerevisiae) (MMS19), mRNA. 450 chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay) MMXD complex|cytoplasm|holo TFIIH complex estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1) 16 Colorectal(252;0.0846) Epithelial(162;3.33e-10)|all cancers(201;2.74e-08) CTGTTAGAGCCATGAATACCA 0.522000 Direct reversal of damage 78 5 0 0 1 0 0 SFRP2 6423 broad.mit.edu 37 4 154709789 154709789 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:154709789C>T uc003inv.1 - 0 440 c.199G>A c.(199-201)Gag>Aag p.E67K NM_003013 NP_003004 Q96HF1 SFRP2_HUMAN Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA. 67 FZ. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) TTCATGGTCTCGTGGCCCAGC 0.617000 124 14 0 0 1 0 0 GPR156 165829 broad.mit.edu 37 3 119886360 119886360 + Missense_Mutation SNP C T T rs150001619 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:119886360C>T uc011bjf.2 - 8 2344 c.1964G>A c.(1963-1965)cGa>cAa p.R655Q GPR156_uc011bjg.2_Missense_Mutation_p.R651Q NM_153002 NP_694547 Q8NFN8 GP156_HUMAN Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA. 655 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity p.R655*(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) AGAAGGTCTTCGTACTCTGGA 0.572000 65 7 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61946494 61946494 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:61946494C>T uc001jky.3 - 16 2402 c.2064G>A c.(2062-2064)gcG>gcA p.A688A ANK3_uc010qih.2_Silent_p.A671A|ANK3_uc001jkz.4_Silent_p.A682A|ANK3_uc001jlb.1_Silent_p.A217A|ANK3_uc001jlc.1_Silent_p.A349A NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 688 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.A688V(1) NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGTTCACATTCGCATTTCTAC 0.507000 20 4 0 0 1 0 0 ODZ1 10178 broad.mit.edu 37 X 123587262 123587262 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:123587262G>A uc010nqy.3 - 22 4093 c.4029C>T c.(4027-4029)atC>atT p.I1343I ODZ1_uc011muj.2_Silent_p.I1342I|ODZ1_uc004euj.3_Silent_p.I1336I NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 1336 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 TTACAGTTGTGATCACAGCAT 0.428000 38 4 0 0 1 0 0 BBS2 583 broad.mit.edu 37 16 56535370 56535370 + Missense_Mutation SNP G A A rs143607562 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:56535370G>A uc002ejd.2 - 9 1354 c.1120C>T c.(1120-1122)Cgg>Tgg p.R374W BBS2_uc010ccg.2_3'UTR NM_031885 NP_114091 Q9BXC9 BBS2_HUMAN Homo sapiens Bardet-Biedl syndrome 2 (BBS2), mRNA. 374 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding p.R374Q(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3) 26 ATTATGCCCCGATGCCCATCA 0.498000 Bardet-Biedl syndrome 74 9 0 0 1 0 0 ZNF577 84765 broad.mit.edu 37 19 52376322 52376322 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:52376322G>A uc010yde.2 - 6 1312 c.921C>T c.(919-921)ttC>ttT p.F307F ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Silent_p.F248F|ZNF577_uc002pxv.3_Silent_p.F300F|ZNF577_uc002pxw.3_Silent_p.F241F NM_032679 NP_116068 Q9BSK1 ZN577_HUMAN Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA. 307 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) ACTTAAAATAGAAGGTTCTTC 0.433000 23 5 0 0 1 0 0 AWAT1 158833 broad.mit.edu 37 X 69458123 69458123 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:69458123C>T uc004dxy.3 + 4 563 c.522C>T c.(520-522)ctC>ctT p.L174L NM_001013579 NP_001013597 Q58HT5 AWAT1_HUMAN Homo sapiens acyl-CoA wax alcohol acyltransferase 1 (AWAT1), mRNA. 174 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1) 15 CTGGCAACCTCGTGGGCATTG 0.572000 31 5 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169512096 169512096 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:169512096C>T uc001ggg.1 - 12 2377 c.2232G>A c.(2230-2232)ttG>ttA p.L744L NM_000130 NP_000121 P12259 FA5_HUMAN Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA. 744 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CTTCCTGATTCAATGATGAGT 0.393000 31 5 0 0 1 0 0 FCGR2C 9103 broad.mit.edu 37 1 161569638 161569639 + RNA DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:161569638_161569639GG>AA uc021pdi.1 + 6 c.1116_1117GG>AA NM_201563 Homo sapiens Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) (FCGR2C), mRNA. lung(2) 2 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) CTTGCTGAGTGGATGACAAAAA 0.391000 48 5 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50779269 50779269 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:50779269C>T uc010enu.1 + 27 3536 c.3489C>T c.(3487-3489)gcC>gcT p.A1163A MYH14_uc002prq.1_Silent_p.A1130A|MYH14_uc002prr.1_Silent_p.A1122A|MYH14_uc010ycb.2_5'Flank NM_001145809 NP_001139281 Q7Z406 MYH14_HUMAN Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA. 1122 axon guidance|regulation of cell shape myosin complex ATP binding|actin binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) AGGGTGGGGCCCGGGCCCAGC 0.652000 25 4 0 0 1 0 0 CYP7B1 9420 broad.mit.edu 37 8 65527617 65527617 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:65527617G>A uc003xvj.2 - 3 1227 c.1023C>T c.(1021-1023)ctC>ctT p.L341L NM_004820 NP_004811 O75881 CP7B1_HUMAN Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA. 341 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) GTTCTCTGGTGAGGTGGATGG 0.448000 14 5 0 0 1 0 0 EWSR1 2130 broad.mit.edu 37 22 29693828 29693828 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:29693828C>T uc003aet.3 + 12 1634 c.1306C>T c.(1306-1308)Caa>Taa p.Q436* EWSR1_uc003aev.3_Nonsense_Mutation_p.Q441*|EWSR1_uc003aex.3_Nonsense_Mutation_p.Q435*|EWSR1_uc003aew.3_Nonsense_Mutation_p.Q380*|EWSR1_uc003aey.3_Nonsense_Mutation_p.Q231*|EWSR1_uc003aez.3_Nonsense_Mutation_p.Q97* NM_005243 NP_005234 Q01844 EWS_HUMAN Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA. 436 RRM. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane RNA binding|calmodulin binding|nucleotide binding|zinc ion binding p.Q436*(2) EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GAAAGATTTTCAAGGGAGCAA 0.512000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 81 13 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64678345 64678345 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:64678345G>A uc001obx.3 - 10 1663 c.1548C>T c.(1546-1548)caC>caT p.H516H NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA. 516 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GCTGCCCGAAGTGCACTTCCA 0.677000 12 4 0 0 1 0 0 TMEM81 388730 broad.mit.edu 37 1 205052974 205052974 + Missense_Mutation SNP G A A rs147380601 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:205052974G>A uc001hbt.3 - 0 615 c.475C>T c.(475-477)Cgc>Tgc p.R159C NM_203376 NP_976310 Q6P7N7 TMM81_HUMAN Homo sapiens transmembrane protein 81 (TMEM81), mRNA. 159 Ig-like. integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 9 all_cancers(21;0.144)|Breast(84;0.0437) BRCA - Breast invasive adenocarcinoma(75;0.0923) ACATCACAGCGATATGTCCCA 0.448000 43 18 0 0 1 0 0 GORASP2 26003 broad.mit.edu 37 2 171822505 171822505 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:171822505C>T uc002ugk.3 + 9 2039 c.1224C>T c.(1222-1224)tcC>tcT p.S408S GORASP2_uc002ugj.3_Silent_p.S340S|GORASP2_uc010zdl.2_Silent_p.S420S|GORASP2_uc010zdm.2_Silent_p.S364S|GORASP2_uc002ugl.3_Silent_p.S340S|GORASP2_uc002ugm.3_Silent_p.S190S NM_015530 NP_056345 Q9H8Y8 GORS2_HUMAN Homo sapiens golgi reassembly stacking protein 2, 55kDa (GORASP2), transcript variant 1, mRNA. 408 Golgi membrane breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 ACGCTGCCTCCTCACTCACTG 0.632000 41 7 0 0 1 0 0 GBP7 388646 broad.mit.edu 37 1 89616112 89616112 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:89616112C>T uc001dna.2 - 5 911 c.772G>A c.(772-774)Gat>Aat p.D258N GBP2_uc001dmy.1_Non-coding_Transcript NM_207398 NP_997281 Q8N8V2 GBP7_HUMAN Homo sapiens guanylate binding protein 7 (GBP7), mRNA. 258 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) AAATTACTATCCAGTTGGTCT 0.408000 18 3 0 0 1 0 0 KLHL2 11275 broad.mit.edu 37 4 166232670 166232670 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:166232670C>T uc003irb.3 + 10 1551 c.1292C>T c.(1291-1293)gCt>gTt p.A431V KLHL2_uc011cjm.2_Missense_Mutation_p.A435V|KLHL2_uc003irc.3_Missense_Mutation_p.A343V|KLHL2_uc010ira.3_Missense_Mutation_p.A84V NM_007246 NP_001154994 O95198 KLHL2_HUMAN Homo sapiens kelch-like 2, Mayven (Drosophila) (KLHL2), transcript variant 1, mRNA. 431 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) TTTCATGTAGCTCCCATGAAT 0.403000 76 9 0 0 1 0 0 WDR20 91833 broad.mit.edu 37 14 102675509 102675509 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:102675509C>T uc010txu.2 + 3 1167 c.1095C>T c.(1093-1095)ttC>ttT p.F365F WDR20_uc001ylf.3_Silent_p.F346F|WDR20_uc001ykz.3_Silent_p.F334F|WDR20_uc001yky.2_Silent_p.F77F|WDR20_uc001yla.3_3'UTR|WDR20_uc001ylb.3_Silent_p.F273F|WDR20_uc001ylc.3_Intron|WDR20_uc001yle.3_Silent_p.F273F|WDR20_uc001yld.3_Silent_p.F334F NM_001242417 NP_001229346 Q8TBZ3 WDR20_HUMAN Homo sapiens WD repeat domain 20 (WDR20), transcript variant 7, mRNA. 334 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 ATGAGGACTTCCAAGACCTTC 0.502000 50 8 0 0 1 0 0 HRH1 3269 broad.mit.edu 37 3 11301609 11301609 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:11301609G>A uc010hdr.3 + 1 1228 c.886G>A c.(886-888)Gaa>Aaa p.E296K HRH1_uc010hds.3_Missense_Mutation_p.E296K|HRH1_uc010hdt.3_Missense_Mutation_p.E296K|HRH1_uc003bwb.4_Missense_Mutation_p.E296K|HRH1_uc021wtb.1_Missense_Mutation_p.E296K NM_001098213 NP_001091683 P35367 HRH1_HUMAN Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA. 296 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) GGATGATAGAGAAGTAGACAA 0.512000 73 4 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24909176 24909176 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:24909176G>A uc001isb.2 - 8 2135 c.1648C>T c.(1648-1650)Cat>Tat p.H550Y ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.H550Y|ARHGAP21_uc010qdc.1_Missense_Mutation_p.H385Y|ARHGAP21_uc001isc.1_Missense_Mutation_p.H540Y NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA. 549 signal transduction Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton GTPase activator activity|protein binding p.H549D(2) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 AAAGATTTATGAATTTCTTGC 0.418000 22 5 0 0 1 0 0 PACRG 135138 broad.mit.edu 37 6 163235239 163235239 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:163235239C>T uc003qua.3 + 2 441 c.217C>T c.(217-219)Cga>Tga p.R73* PACRG_uc003qub.3_Nonsense_Mutation_p.R73*|PACRG_uc003quc.3_Nonsense_Mutation_p.R73* NM_152410 NP_689623 Q96M98 PACRG_HUMAN Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA. 73 p.R73Q(1) endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203) OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242) CACAGCATTTCGAAAATTCTA 0.468000 55 9 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121882 38121882 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:38121882C>T uc003atr.3 + 6 3590 c.3319C>T c.(3319-3321)Cag>Tag p.Q1107* TRIOBP_uc003atu.3_Nonsense_Mutation_p.Q935*|TRIOBP_uc003atq.1_Nonsense_Mutation_p.Q1107*|TRIOBP_uc003ats.1_Nonsense_Mutation_p.Q935* NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 1107 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CGAGCCCCTTCAGCTCCCTGC 0.642000 131 9 0 0 1 0 0 GJA9 81025 broad.mit.edu 37 1 39341345 39341345 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:39341345C>T uc021olr.1 - 0 426 c.426G>A c.(424-426)agG>agA p.R142R RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.3_5'Flank|MYCBP_uc021olq.1_Intron NM_030772 NP_110399 P57773 CXA9_HUMAN Homo sapiens gap junction protein, alpha 9, 59kDa (GJA9), mRNA. 142 cell communication connexon complex|integral to membrane breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) TATTTAGTTTCCTTTTCTCCA 0.438000 90 25 0 0 1 0 0 LAMP3 27074 broad.mit.edu 37 3 182870195 182870195 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:182870195G>A uc003flh.4 - 2 1080 c.856C>T c.(856-858)Cag>Tag p.Q286* NM_014398 NP_055213 Q9UQV4 LAMP3_HUMAN Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA. 286 cell proliferation integral to membrane|lysosomal membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2) 28 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) AATCCGCCCTGAAAATTCAAC 0.502000 150 12 0 0 1 0 0 MLIP 90523 broad.mit.edu 37 6 53989592 53989592 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:53989592G>A uc011dxa.2 + 2 607 c.574G>A c.(574-576)Ggg>Agg p.G192R MLIP_uc003pcf.2_Missense_Mutation_p.G181R|MLIP_uc003pcg.4_Missense_Mutation_p.G181R|MLIP_uc003pch.4_Missense_Mutation_p.G119R|MLIP_uc011dwz.1_Missense_Mutation_p.G140R NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA. 181 PML body|nuclear envelope protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 CAAAACACAGGGGACTGATCT 0.552000 27 3 0 0 1 0 0 NCDN 23154 broad.mit.edu 37 1 36026844 36026844 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:36026844C>T uc001bza.3 + 3 1219 c.1092C>T c.(1090-1092)ctC>ctT p.L364L NCDN_uc001bzb.3_Silent_p.L364L|NCDN_uc001bzc.3_Silent_p.L347L NM_001014839 NP_001014841 Q9UBB6 NCDN_HUMAN Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA. 364 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGGTGCAGCTCGTGAGCGTCA 0.597000 55 4 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121659764 121659764 + Missense_Mutation SNP G T T rs150691938 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:121659764G>T uc003eep.2 + 21 2253 c.2100G>T c.(2098-2100)aaG>aaT p.K700N SLC15A2_uc011bjn.1_Missense_Mutation_p.K669N NM_021082 NP_066568 Q16348 S15A2_HUMAN Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA. 700 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) TTCCTGTAAAGACAGAGGATA 0.478000 47 8 5.18039e-06 5.24305e-06 1 1 0 KCNQ3 3786 broad.mit.edu 37 8 133142181 133142181 + Silent SNP C T T rs142082768 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:133142181C>T uc003ytj.3 - 14 2172 c.1947G>A c.(1945-1947)cgG>cgA p.R649R KCNQ3_uc003yti.3_Silent_p.R529R|KCNQ3_uc010mdt.3_Silent_p.R637R NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 649 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.R649L(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GCACCTGCAACCGTTCCATGT 0.498000 70 10 0 0 1 0 0 ATP2B4 493 broad.mit.edu 37 1 203680017 203680017 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:203680017C>T uc001gzw.3 + 11 2709 c.1812C>T c.(1810-1812)atC>atT p.I604I ATP2B4_uc001gzv.3_Silent_p.I604I|ATP2B4_uc009xaq.3_Silent_p.I604I NM_001684 NP_001675 P23634 AT2B4_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA. 604 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding p.R603Q(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) GTAATCGAATCCTGGACCGGA 0.498000 10 4 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48556384 48556384 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:48556384C>T uc003toq.2 + 51 13728 c.13704C>T c.(13702-13704)ttC>ttT p.F4568F ABCA13_uc010kys.1_Silent_p.F1643F|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.F298F NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 4568 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 ACGTGGCTTTCATTTCCTATG 0.408000 40 4 0 0 1 0 0 EYA2 2139 broad.mit.edu 37 20 45717903 45717903 + Silent SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:45717903T>G uc002xsm.3 + 7 1061 c.687T>G c.(685-687)ccT>ccG p.P229P EYA2_uc010ghp.3_Silent_p.P229P|EYA2_uc002xsq.3_Silent_p.P229P NM_005244 NP_005235 O00167 EYA2_HUMAN Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA. 229 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) ACAATGGACCTTCCACACCAG 0.582000 83 6 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115891597 115891597 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:115891597C>T uc003ibu.3 - 3 1889 c.1210G>A c.(1210-1212)Gaa>Aaa p.E404K NDST4_uc010imw.3_Non-coding_Transcript NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 404 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AGTGCAAATTCCTTGTTGAGA 0.408000 11 3 0 0 1 0 0 AGR3 155465 broad.mit.edu 37 7 16902253 16902253 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:16902253C>T uc003sts.3 - 3 280 c.207G>A c.(205-207)gaG>gaA p.E69E NM_176813 NP_789783 Q8TD06 AGR3_HUMAN Homo sapiens anterior gradient 3 homolog (Xenopus laevis) (AGR3), mRNA. 69 extracellular region central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1) 13 Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) ATTGACAATCCTCCAGGTGAT 0.294000 39 12 0 0 1 0 0 TRIT1 54802 broad.mit.edu 37 1 40349011 40349011 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:40349011G>A uc021olz.1 - 0 167 c.153C>T c.(151-153)atC>atT p.I51I TRIT1_uc001ceq.3_5'UTR|TRIT1_uc001cek.3_5'UTR|TRIT1_uc009vvx.3_Non-coding_Transcript|TRIT1_uc001cel.3_Non-coding_Transcript|TRIT1_uc001cem.3_Silent_p.I51I|TRIT1_uc001cen.3_5'UTR|TRIT1_uc001ceo.3_5'UTR|TRIT1_uc001cep.3_5'UTR NM_017646 NP_060116 Q9H3H1 MOD5_HUMAN Homo sapiens tRNA isopentenyltransferase 1 (TRIT1), mRNA. 51 tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1) 15 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CAGCGCTGACGATCTCACCGC 0.667000 13 3 0 0 1 0 0 USHBP1 83878 broad.mit.edu 37 19 17362445 17362445 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:17362445C>T uc002nfs.1 - 11 1981 c.1868G>A c.(1867-1869)cGa>cAa p.R623Q USHBP1_uc002nfr.1_Missense_Mutation_p.R249Q|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.R559Q NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA. 623 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 CCGTCTGGCTCGCCCCTTCTG 0.612000 117 17 0 0 1 0 0 SPAG16 79582 broad.mit.edu 37 2 214972961 214972961 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:214972961C>T uc002veq.3 + 13 1661 c.1569C>T c.(1567-1569)atC>atT p.I523I SPAG16_uc010fuz.2_Silent_p.I374I|SPAG16_uc002ver.3_Silent_p.I469I|SPAG16_uc010zjk.2_Silent_p.I429I NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA. 523 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) TGCATTCTATCAATGATGCCA 0.323000 13 3 0 0 1 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42860341 42860341 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:42860341C>T uc010gor.3 - 4 597 c.536G>A c.(535-537)gGg>gAg p.G179E TMPRSS2_uc002yzj.3_Missense_Mutation_p.G142E|TMPRSS2_uc010gos.1_Missense_Mutation_p.G142E NM_001135099 NP_005647 O15393 TMPS2_HUMAN Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA. 142 SRCR. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) CTCGTCCTCCCCGCCGGGGCA 0.612000 T """ERG, ETV1, ETV4, ETV5""" prostate 39 9 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681655 100681655 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:100681655C>T uc003uxp.1 + 2 7011 c.6958C>T c.(6958-6960)Cct>Tct p.P2320S MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2320 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P2320H(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAGTTCACCTCCTCCCACTGC 0.502000 134 37 0 0 1 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18159340 18159340 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:18159340C>T uc021qek.1 + 0 591 c.591C>T c.(589-591)gtC>gtT p.V197V MRGPRX3_uc001mnu.3_Silent_p.V197V NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA. 197 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CCAGCCTGGTCCTGCTGGTCA 0.522000 66 12 0 0 1 0 0 CCL23 6368 broad.mit.edu 37 17 34340846 34340846 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:34340846G>A uc002hkt.1 - 2 260 c.189C>T c.(187-189)atC>atT p.I63I CCL23_uc002hks.1_Silent_p.I80I NM_145898 NP_665905 P55773 CCL23_HUMAN Homo sapiens chemokine (C-C motif) ligand 23 (CCL23), transcript variant CKbeta8, mRNA. 63 G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|negative regulation of cell proliferation extracellular space chemokine activity|heparin binding p.A62V(1) large_intestine(2)|liver(1)|lung(2)|prostate(1) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) Treprostinil(DB00374) GTGAACACGGGATGCTTCGTG 0.517000 25 7 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73736438 73736438 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:73736438G>A uc002jpg.3 + 21 2634 c.2447_splice c.e21-1 p.V816_splice ITGB4_uc002jph.3_Splice_Site_p.V816_splice|ITGB4_uc010dgo.3_Splice_Site_p.V816_splice|ITGB4_uc002jpi.4_Splice_Site_p.V816_splice|ITGB4_uc010dgp.1_Splice_Site_p.V816_splice|ITGB4_uc002jpj.3_Splice_Site_p.V816_splice NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 816 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCTTTCCTTAGTGCCCTACGG 0.647000 72 7 0 0 1 0 0 SNAI2 6591 broad.mit.edu 37 8 49833768 49833768 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:49833768G>A uc003xqp.3 - 0 232 c.57C>T c.(55-57)taC>taT p.Y19Y NM_003068 NP_003059 O43623 SNAI2_HUMAN Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA. 19 canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1) 18 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) CCAGTTCGCTGTAGTTTGGCT 0.483000 118 9 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52552738 52552738 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:52552738G>A uc003dej.3 + 48 4962 c.4888_splice c.e48-1 p.D1630_splice STAB1_uc003dek.1_5'Flank|STAB1_uc003del.3_5'Flank NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 1630 FAS1 5. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CTCTGCTCCAGGATGAGCTGG 0.701000 19 4 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15811116 15811116 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:15811116C>T uc002ddx.3 - 38 5513 c.5406G>A c.(5404-5406)aaG>aaA p.K1802K MYH11_uc002ddv.3_Silent_p.K1802K|MYH11_uc002ddw.3_Silent_p.K1795K|MYH11_uc002ddy.3_Silent_p.K1795K|MYH11_uc010bvg.3_Silent_p.K1627K|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Silent_p.K501K NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 1795 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TCCGGAGCTCCTTGTTCTGCC 0.647000 T CBFB AML 113 9 0 0 1 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186901937 186901937 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:186901937G>A uc001gsc.3 + 7 806 c.601G>A c.(601-603)Gcc>Acc p.A201T PLA2G4A_uc010pos.2_Missense_Mutation_p.A141T NM_024420 NP_077734 P47712 PA24A_HUMAN Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA. 201 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) GGGTTTCCGAGCCATGGTGGG 0.458000 23 3 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44932917 44932917 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:44932917C>T uc002oze.1 - 5 2473 c.2039G>A c.(2038-2040)gGa>gAa p.G680E ZNF229_uc010ejk.1_Missense_Mutation_p.G334E|ZNF229_uc010ejl.1_Missense_Mutation_p.G674E NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN Homo sapiens zinc finger protein 229 (ZNF229), mRNA. 680 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) GGGCTTTTTTCCCGTGTGGAC 0.507000 42 7 0 0 1 0 0 SLC22A14 9389 broad.mit.edu 37 3 38355319 38355319 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:38355319C>T uc003cib.2 + 6 1338 c.1265C>T c.(1264-1266)cCt>cTt p.P422L SLC22A14_uc010hhc.1_Missense_Mutation_p.P422L|SLC22A14_uc011ayo.1_Non-coding_Transcript NM_004803 NP_004794 Q9Y267 S22AE_HUMAN Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA. 422 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) ATGGAGGTGCCTGCCCGGCTG 0.552000 108 10 0 0 1 0 0 PAFAH2 5051 broad.mit.edu 37 1 26314785 26314785 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:26314785G>A uc001bld.4 - 3 458 c.278C>T c.(277-279)cCc>cTc p.P93L PAFAH2_uc001ble.4_Missense_Mutation_p.P93L NM_000437 NP_000428 Q99487 PAFA2_HUMAN Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA. 93 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1) 9 Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649) TGTCTTAAAGGGGCCATTCCA 0.522000 139 9 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31862716 31862716 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:31862716C>T uc003tcm.2 - 13 2014 c.1553G>A c.(1552-1554)cGg>cAg p.R518Q PDE1C_uc003tcn.1_Missense_Mutation_p.R518Q|PDE1C_uc003tco.2_Missense_Mutation_p.R578Q|PDE1C_uc003tcr.3_Missense_Mutation_p.R518Q|PDE1C_uc003tcs.3_Missense_Mutation_p.R518Q NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 518 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CCATCTCTCCCGATTGATGTG 0.473000 16 7 0 0 1 0 0 VWA7 80737 broad.mit.edu 37 6 31740776 31740776 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31740776G>A uc011dog.2 - 6 1280 c.1042C>T c.(1042-1044)Ccc>Tcc p.P348S VWA7_uc003nxd.2_Missense_Mutation_p.P23S|VWA7_uc011doh.1_Non-coding_Transcript NM_025258 NP_079534 Q9Y334 G7C_HUMAN Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA. 348 extracellular region GGCTCCATGGGGCTGCCTCTC 0.567000 235 39 0 0 1 0 0 LCE1E 353135 broad.mit.edu 37 1 152760117 152760117 + Silent SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152760117T>C uc021ozg.1 + 0 342 c.342T>C c.(340-342)tcT>tcC p.S114S LCE1E_uc001fan.3_Silent_p.S114S NM_178353 NP_848130 Q5T753 LCE1E_HUMAN Homo sapiens late cornified envelope 1E (LCE1E), mRNA. 114 Cys-rich. keratinization lung(5)|stomach(1) 6 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCCAGCACTCTGGAGGCTGCT 0.597000 148 14 0 0 1 0 0 ATRN 8455 broad.mit.edu 37 20 3557545 3557545 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:3557545C>T uc002wim.2 + 13 2344 c.2254C>T c.(2254-2256)Ccc>Tcc p.P752S ATRN_uc002wil.2_Missense_Mutation_p.P752S|ATRN_uc021vzz.1_Missense_Mutation_p.P636S NM_139321 NP_647537 O75882 ATRN_HUMAN Homo sapiens attractin (ATRN), transcript variant 1, mRNA. 752 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 CAAGGATAACCCCATGTACTA 0.502000 45 4 0 0 1 0 0 LRRC18 474354 broad.mit.edu 37 10 50121641 50121641 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:50121641A>T uc001jhd.3 - 0 640 c.560T>A c.(559-561)aTa>aAa p.I187K WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.I187K NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA. 187 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GTCTATGAATATTTCCGACTC 0.502000 56 13 0 0 1 0 0 HCST 10870 broad.mit.edu 37 19 36393501 36393501 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:36393501C>T uc002ocl.1 + 0 120 c.6C>T c.(4-6)atC>atT p.I2I NFKBID_uc002oci.1_5'Flank|HCST_uc002ock.1_Silent_p.I2I NM_014266 NP_055081 Q9UBK5 HCST_HUMAN Homo sapiens hematopoietic cell signal transducer (HCST), transcript variant 1, mRNA. 2 regulation of immune response integral to membrane|plasma membrane p.M1I(2) lung(4) 4 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCACCATGATCCATCTGGGTC 0.572000 241 28 0 0 1 0 0 TGIF2 60436 broad.mit.edu 37 20 35219364 35219364 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:35219364C>T uc021wcv.1 + 2 458 c.244C>T c.(244-246)Cgg>Tgg p.R82W TGIF2_uc021wcu.1_Missense_Mutation_p.R82W|TGIF2_uc002xfn.3_Missense_Mutation_p.R82W|TGIF2_uc021wcw.1_Missense_Mutation_p.R82W|TGIF2_uc002xfo.3_Intron NM_001199514 NP_001186443 Q9GZN2 TGIF2_HUMAN Homo sapiens TGFB-induced factor homeobox 2 (TGIF2), transcript variant 1, mRNA. 82 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) AGACATGCTTCGGAAGGATGG 0.532000 233 27 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164393422 164393422 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:164393422C>T uc003iqp.4 - 0 1626 c.1465G>A c.(1465-1467)Gaa>Aaa p.E489K NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN Homo sapiens transketolase-like 2 (TKTL2), mRNA. 489 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TCAAAATTTTCTTGTGGGGTA 0.463000 108 5 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26105947 26105947 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:26105947G>A uc002gzu.3 - 9 1404 c.1140C>T c.(1138-1140)gtC>gtT p.V380V NOS2_uc010crh.1_Silent_p.V380V|NOS2_uc010wab.1_Silent_p.V380V NM_000625 NP_000616 P35228 NOS2_HUMAN Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA. 380 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) AGAAGTCCCGGACTCCGATCT 0.637000 66 15 0 0 1 0 0 IL17RD 54756 broad.mit.edu 37 3 57132205 57132205 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:57132205G>A uc003dil.3 - 11 1615 c.1526C>T c.(1525-1527)tCc>tTc p.S509F IL17RD_uc003dik.3_Missense_Mutation_p.S485F|IL17RD_uc010hna.3_Missense_Mutation_p.S365F|IL17RD_uc011bex.1_Missense_Mutation_p.S365F NM_017563 NP_060033 Q8NFM7 I17RD_HUMAN Homo sapiens interleukin 17 receptor D (IL17RD), mRNA. 509 SEFIR. Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) GTGCAAGTGGGAACAGAGCTG 0.582000 26 7 0 0 1 0 0 MIIP 60672 broad.mit.edu 37 1 12082318 12082318 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12082318C>T uc001ato.2 + 2 674 c.281C>T c.(280-282)tCt>tTt p.S94F NM_021933 NP_068752 Q5JXC2 MIIP_HUMAN Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA. 94 autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 GGGGTGGCCTCTCTCCCACCT 0.692000 86 5 0 0 1 0 0 ILF3 3609 broad.mit.edu 37 19 10791923 10791923 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:10791923C>T uc002mpn.3 + 10 1415 c.1098C>T c.(1096-1098)gcC>gcT p.A366A ILF3_uc010xli.1_Intron|ILF3_uc002mpm.2_Silent_p.A366A|ILF3_uc002mpl.2_Silent_p.A366A|ILF3_uc002mpk.2_Silent_p.A366A|ILF3_uc002mpo.3_Silent_p.A366A|ILF3_uc002mpp.3_Silent_p.A187A NM_012218 NP_036350 Q12906 ILF3_HUMAN Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA. 366 M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) CCACCTATGCCATTACGCCCA 0.572000 124 25 0 0 1 0 0 FAM129C 199786 broad.mit.edu 37 19 17644466 17644466 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:17644466G>A uc021uqj.1 + 4 614 c.476G>A c.(475-477)cGa>cAa p.R159Q FAM129C_uc021uqi.1_Missense_Mutation_p.R159Q|FAM129C_uc010xps.2_Missense_Mutation_p.R128Q|FAM129C_uc010xpt.2_Non-coding_Transcript NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA. 159 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 ACTTCCCAGCGAGAATATCTC 0.542000 67 20 0 0 1 0 0 ADARB1 104 broad.mit.edu 37 21 46604915 46604915 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:46604915C>T uc002zgy.2 + 8 2029 c.1594C>T c.(1594-1596)Cca>Tca p.P532S ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Missense_Mutation_p.P492S|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Missense_Mutation_p.P492S|ADARB1_uc010gpx.2_Non-coding_Transcript|ADARB1_uc002zgr.2_Missense_Mutation_p.P532S|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript NM_015833 NP_056648 P78563 RED1_HUMAN Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 2, mRNA. 532 A to I editase. RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing nucleoplasm|nucleus RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1) 17 Colorectal(79;0.115) GGGGACGATTCCAGTGCGCTC 0.527000 99 12 0 0 1 0 0 NEU2 4759 broad.mit.edu 37 2 233899067 233899067 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:233899067G>A uc010zmn.2 + 1 443 c.443G>A c.(442-444)gGc>gAc p.G148D NM_005383 NP_005374 Q9Y3R4 NEUR2_HUMAN Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA. 148 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) GCGGCCATCGGCCCAGCCTAC 0.667000 29 4 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25909783 25909783 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:25909783G>A uc010crg.3 + 4 666 c.221G>A c.(220-222)gGg>gAg p.G74E KSR1_uc002gzj.1_Intron NM_014238 NP_055053 Q8IVT5 KSR1_HUMAN Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA. 209 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) TGGCCCCCAGGGAGCTCCCAG 0.672000 50 4 0 0 1 0 0 KRTAP19-3 337970 broad.mit.edu 37 21 31864179 31864180 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:31864179_31864180GG>AA uc002yog.1 - 0 96_97 c.96_97CC>TT c.(94-99)ttccgc>ttTTgc p.R33C NM_181609 NP_853640 Q7Z4W3 KR193_HUMAN Homo sapiens keratin associated protein 19-3 (KRTAP19-3), mRNA. 33 intermediate filament large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 9 CCCAGTCTGCGGAAGCTGCCAC 0.579000 134 12 0 0 1 0 0 KIAA1598 57698 broad.mit.edu 37 10 118681008 118681009 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:118681008_118681009GG>AA uc021pzk.1 - 11 1629_1630 c.1131_1132CC>TT c.(1129-1134)atccgg>atTTgg p.R378W KIAA1598_uc009xyw.3_Missense_Mutation_p.R378W|KIAA1598_uc001lcz.4_Missense_Mutation_p.R378W|KIAA1598_uc010qso.2_Missense_Mutation_p.R318W|KIAA1598_uc010qsp.1_Missense_Mutation_p.R378W|KIAA1598_uc010qsq.1_Missense_Mutation_p.R318W|KIAA1598_uc001lcy.4_Missense_Mutation_p.R348W NM_018330 NP_060800 A0MZ66 SHOT1_HUMAN Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA. 378 axon guidance axon endometrium(1)|kidney(1)|large_intestine(5)|lung(3) 10 all cancers(201;0.00494) GATCGTTTCCGGATCATGGACA 0.421000 22 6 0 0 1 0 0 SNED1 25992 broad.mit.edu 37 2 241973219 241973219 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:241973219C>T uc002wah.1 + 2 569 c.569C>T c.(568-570)tCc>tTc p.S190F NM_001080437 NP_001073906 Q8TER0 SNED1_HUMAN Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA. 190 NIDO. cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) AACTATGAGTCCATCGTGTGG 0.632000 22 3 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204438353 204438353 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:204438353G>A uc001haw.3 - 2 1057 c.578C>T c.(577-579)tCt>tTt p.S193F PIK3C2B_uc010pqv.2_Missense_Mutation_p.S193F|PIK3C2B_uc001hax.1_Missense_Mutation_p.S193F|PIK3C2B_uc009xbd.1_Non-coding_Transcript NM_002646 NP_002637 O00750 P3C2B_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA. 193 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TTCGACCAAAGAGAAAGTGTT 0.592000 200 49 0 0 1 0 0 ARMCX6 54470 broad.mit.edu 37 X 100871378 100871379 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:100871378_100871379GG>AA uc022cao.1 - 0 232_233 c.232_233CC>TT c.(232-234)cct>TTt p.P78F ARMCX6_uc022cal.1_Intron|ARMCX6_uc022cam.1_Intron|ARMCX6_uc022can.1_Missense_Mutation_p.P78F|ARMCX6_uc004ehx.3_Missense_Mutation_p.P78F|ARMCX6_uc004ehy.3_Missense_Mutation_p.P78F NM_019007 NP_061880 Q7L4S7 ARMX6_HUMAN Homo sapiens armadillo repeat containing, X-linked 6 (ARMCX6), transcript variant 1, mRNA. 78 integral to membrane endometrium(3)|kidney(1)|liver(2)|lung(3) 9 TGGGGCCCCAGGTTCAGTCCAA 0.554000 42 12 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283027 152283027 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152283027C>T uc001ezu.1 - 2 4371 c.4335G>A c.(4333-4335)gtG>gtA p.V1445V AK056431_uc001ezv.3_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1445 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.V1445V(2) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGAGAGCTCACCTGGTAGA 0.587000 Ichthyosis 139 16 0 0 1 0 0 PSME4 23198 broad.mit.edu 37 2 54133761 54133761 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:54133761G>A uc002rxp.2 - 25 2973 c.2917C>T c.(2917-2919)Cgt>Tgt p.R973C PSME4_uc010yop.1_Missense_Mutation_p.R859C|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Missense_Mutation_p.R348C|PSME4_uc010fbv.1_Missense_Mutation_p.R117C|PSME4_uc021vho.1_Missense_Mutation_p.R958C NM_014614 NP_055429 Q14997 PSME4_HUMAN Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA. 973 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GTAGATAAACGAAGAAGATCT 0.363000 47 5 0 0 1 0 0 SLC1A5 6510 broad.mit.edu 37 19 47280251 47280251 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:47280251G>A uc002pfs.3 - 6 1989 c.1369C>T c.(1369-1371)Ctg>Ttg p.L457L SLC1A5_uc010xyh.2_Silent_p.L255L|SLC1A5_uc002pfq.3_Silent_p.L281L|SLC1A5_uc002pfr.3_Silent_p.L229L NM_005628 NP_001138616 Q15758 AAAT_HUMAN Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA. 457 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) TCCACAGCCAGGATCAAGGAG 0.612000 62 5 0 0 1 0 0 CEACAM20 125931 broad.mit.edu 37 19 45021201 45021201 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:45021201G>A uc010ejn.1 - 5 1131 c.1115C>T c.(1114-1116)aCc>aTc p.T372I CEACAM20_uc010ejo.1_Missense_Mutation_p.T372I|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA. 372 Ig-like C2-type 4. integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) ACACTGCAGGGTCAGGCTGGA 0.567000 225 32 0 0 1 0 0 MRPL37 51253 broad.mit.edu 37 1 54666249 54666249 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:54666249C>T uc001cxa.4 + 0 410 c.333C>T c.(331-333)tgC>tgT p.C111C CYB5RL_uc001cwy.4_5'Flank|CYB5RL_uc009vzo.3_5'Flank|CYB5RL_uc001cwx.4_5'Flank|MRPL37_uc009vzp.3_Missense_Mutation_p.A81V NM_016491 NP_057575 Q9BZE1 RM37_HUMAN Homo sapiens mitochondrial ribosomal protein L37 (MRPL37), nuclear gene encoding mitochondrial protein, mRNA. 111 translation mitochondrial ribosome structural constituent of ribosome NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2) 19 ACCACCGTTGCCGCCTTCTCG 0.617000 51 4 0 0 1 0 0 TRAF3 7187 broad.mit.edu 37 14 103371842 103371842 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:103371842C>T uc001ymc.2 + 11 1781 c.1428C>T c.(1426-1428)gtC>gtT p.V476V TRAF3_uc001ymd.2_Silent_p.V476V|TRAF3_uc001yme.2_Silent_p.V451V|TRAF3_uc010txy.2_Silent_p.V393V NM_145725 NP_663777 Q13114 TRAF3_HUMAN Homo sapiens TNF receptor-associated factor 3 (TRAF3), transcript variant 1, mRNA. 476 MATH. apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2) 30 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) TGTTTTTTGTCATCATGCGTG 0.517000 111 11 0 0 1 0 0 KRT2 3849 broad.mit.edu 37 12 53044217 53044217 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:53044217G>A uc001sat.3 - 1 739 c.706C>T c.(706-708)Ctc>Ttc p.L236F NM_000423 NP_000414 P35908 K22E_HUMAN Homo sapiens keratin 2 (KRT2), mRNA. 236 Coil 1B.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) TATCTCTTGAGGCTGTCGATA 0.473000 135 8 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227924334 227924334 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:227924334G>A uc021vxr.1 - 26 2271 c.2170C>T c.(2170-2172)Cgt>Tgt p.R724C COL4A4_uc021vxs.1_Missense_Mutation_p.R724C NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 724 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ATGTCACCACGAAAACCTATT 0.413000 60 17 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38993309 38993309 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:38993309C>T uc002oit.3 + 47 7907 c.7777C>T c.(7777-7779)Cgt>Tgt p.R2593C RYR1_uc002oiu.3_Missense_Mutation_p.R2593C|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 2593 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.R2593H(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GTCTCGGGGTCGTTCGCTCAC 0.652000 36 7 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114141243 114141243 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:114141243C>T uc004epu.1 + 5 1370 c.642C>T c.(640-642)ttC>ttT p.F214F HTR2C_uc010nqc.1_Silent_p.F214F|HTR2C_uc004epv.1_Missense_Mutation_p.R183C NM_000868 NP_000859 P28335 5HT2C_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA. 214 ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) ACCCAAATTTCGTTCTTATTG 0.468000 44 15 0 0 1 0 0 SERPING1 710 broad.mit.edu 37 11 57381808 57381808 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:57381808C>T uc001nkp.1 + 7 1448 c.1257C>T c.(1255-1257)ttC>ttT p.F419F SERPING1_uc010rju.1_Silent_p.F367F|SERPING1_uc010rjv.1_Silent_p.F424F|SERPING1_uc001nkr.1_Silent_p.F419F|SERPING1_uc001nks.1_Silent_p.F110F NM_000062 NP_001027466 P05155 IC1_HUMAN Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA. 419 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 TAGAATTCTTCGATTTTTCTT 0.483000 104 20 0 0 1 0 0 C15orf59 388135 broad.mit.edu 37 15 74032374 74032374 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:74032374G>A uc002avy.3 - 1 1111 c.766C>T c.(766-768)Cct>Tct p.P256S NM_001039614 NP_001034703 Q2T9L4 CO059_HUMAN Homo sapiens chromosome 15 open reading frame 59 (C15orf59), mRNA. 256 breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GTCTGTTCAGGGGCCAAGGTA 0.617000 159 9 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112751959 112751959 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:112751959G>A uc002thk.1 + 8 1550 c.1428G>A c.(1426-1428)gtG>gtA p.V476V MERTK_uc002thl.1_Silent_p.V300V NM_006343 NP_006334 Q12866 MERTK_HUMAN Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA. 476 Fibronectin type-III 2. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 GTGATCCAGTGAAAATATTTA 0.537000 84 9 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 76975919 76975919 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:76975919C>T uc002snr.3 - 3 2090 c.1675G>A c.(1675-1677)Gaa>Aaa p.E559K LRRTM4_uc002snq.3_Missense_Mutation_p.E559K NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA. 559 integral to membrane p.E559K(1) autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) CCGGGGCTTTCGTCCTGCTCT 0.592000 115 12 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123498562 123498562 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:123498562C>T uc001uej.1 - 2 305 c.106G>A c.(106-108)Gaa>Aaa p.E36K PITPNM2_uc001uek.1_Missense_Mutation_p.E36K|PITPNM2_uc009zxu.1_Missense_Mutation_p.E36K NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA. 36 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CCGCTGCCTTCGCCATATGTC 0.582000 82 6 0 0 1 0 0 CDCA5 113130 broad.mit.edu 37 11 64846961 64846961 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:64846961G>A uc001ocp.2 - 4 707 c.542C>T c.(541-543)tCg>tTg p.S181L NM_080668 NP_542399 Q96FF9 CDCA5_HUMAN Homo sapiens cell division cycle associated 5 (CDCA5), mRNA. 181 G1/S transition of mitotic cell cycle|cell division|double-strand break repair|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin cytoplasm|nuclear chromatin|plasma membrane chromatin binding|identical protein binding large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CACCACTGGCGAGACTCCGGA 0.647000 48 4 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119751998 119751998 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:119751998C>T uc002tln.1 + 16 1597 c.1465C>T c.(1465-1467)Cgg>Tgg p.R489W MARCO_uc010yyf.1_Missense_Mutation_p.R411W NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 489 SRCR. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 TGTTCAGTGTCGGGGCACGGA 0.552000 51 5 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168199905 168199905 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:168199905C>A uc010jjg.3 - 13 1760 c.1340G>T c.(1339-1341)tGg>tTg p.W447L SLIT3_uc003mab.3_Missense_Mutation_p.W447L|SLIT3_uc010jji.2_Missense_Mutation_p.W447L|SLIT3_uc003mac.1_Missense_Mutation_p.W244L NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 447 LRRCT 2. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTCGGCCAGCCACTTCAAGTG 0.622000 58 6 0.0215528 0.0216996 1 1 0 NLRP2 55655 broad.mit.edu 37 19 55501499 55501499 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55501499G>A uc021vbq.1 + 8 2587 c.2476G>A c.(2476-2478)Gag>Aag p.E826K NLRP2_uc010yfp.2_Missense_Mutation_p.E803K|NLRP2_uc002qij.3_Missense_Mutation_p.E826K|NLRP2_uc010esp.3_Missense_Mutation_p.E804K|NLRP2_uc010esn.3_Missense_Mutation_p.E802K|NLRP2_uc010eso.3_Missense_Mutation_p.E823K NM_001174081 NP_060322 Q9NX02 NALP2_HUMAN Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA. 826 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GCTTCTGGATGAGGGTGCTAA 0.517000 61 5 0 0 1 0 0 TMED3 23423 broad.mit.edu 37 15 79614347 79614347 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:79614347G>A uc002beu.3 + 2 546 c.445G>A c.(445-447)Gag>Aag p.E149K TMED3_uc010unj.1_Intron|TMED3_uc002bev.3_Non-coding_Transcript NM_007364 NP_031390 Q9Y3Q3 TMED3_HUMAN Homo sapiens transmembrane emp24 protein transport domain containing 3 (TMED3), mRNA. 149 protein transport ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane large_intestine(3)|lung(4)|ovary(1)|skin(1) 9 GACCATCCATGAGGCTCTGAA 0.552000 52 9 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595072 140595072 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140595072C>T uc003lja.1 + 0 1564 c.1377C>T c.(1375-1377)ttC>ttT p.F459F NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN Homo sapiens protocadherin beta 13 (PCDHB13), mRNA. 459 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACACCCTGTTCGTCCGCGAGA 0.602000 89 11 0 0 1 0 0 ACSBG1 23205 broad.mit.edu 37 15 78472121 78472121 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:78472121C>T uc002bdh.3 - 10 1460 c.1254_splice c.e10-1 p.S418_splice ACSBG1_uc010umx.2_Splice_Site_p.S176_splice|ACSBG1_uc010umw.2_Splice_Site_p.S414_splice NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA. 418 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 GGCTTCAGGTCGCTGGTGGGA 0.493000 24 5 0 0 1 0 0 COL9A2 1298 broad.mit.edu 37 1 40776925 40776925 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:40776925G>A uc001cfh.1 - 10 665 c.553C>T c.(553-555)Ccc>Tcc p.P185S COL9A2_uc001cfi.1_Missense_Mutation_p.P4S NM_001852 NP_001843 Q14055 CO9A2_HUMAN Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA. 185 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) AGCCCTGGGGGACCTTTCATT 0.597000 10 7 0 0 1 0 0 ABCG5 64240 broad.mit.edu 37 2 44050062 44050062 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:44050062C>T uc002rtn.3 - 9 1477 c.1337G>A c.(1336-1338)cGa>cAa p.R446Q ABCG5_uc002rtm.3_Missense_Mutation_p.R51Q|ABCG5_uc002rto.3_Missense_Mutation_p.R275Q|ABCG5_uc002rtp.3_Missense_Mutation_p.R51Q NM_022436 NP_071881 Q9H222 ABCG5_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA. 446 ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GCTGACAGCTCGCAGCACGGG 0.582000 83 9 0 0 1 0 0 S100A7 6278 broad.mit.edu 37 1 153430437 153430437 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:153430437C>T uc001fbv.1 - 2 222 c.151G>A c.(151-153)Ggc>Agc p.G51S NM_002963 NP_002954 P31151 S10A7_HUMAN Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA. 51 EF-hand 2. angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus RAGE receptor binding|calcium ion binding|zinc ion binding p.G51G(1) breast(1)|large_intestine(2)|lung(5)|skin(2) 10 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TAATTTGTGCCCTTTTTGTCC 0.413000 50 4 0 0 1 0 0 DCAF8 50717 broad.mit.edu 37 1 160252888 160252888 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:160252888G>A uc001fvs.2 - 2 219 c.192C>T c.(190-192)ttC>ttT p.F64F DCAF8_uc010pjc.1_5'UTR|DCAF8_uc021pbq.1_Silent_p.F64F|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_5'UTR NM_002857 NP_002848 Q5TAQ9 DCAF8_HUMAN Homo sapiens peroxisomal biogenesis factor 19 (PEX19), transcript variant 1, mRNA. 0 CUL4 RING ubiquitin ligase complex protein binding p.E63K(1) cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1) 33 CTTGGGAAGCGAAGAGGGCAT 0.537000 99 5 0 0 1 0 0 ATP11A 23250 broad.mit.edu 37 13 113474224 113474224 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:113474224C>T uc001vsj.4 + 7 773 c.685C>T c.(685-687)Cgc>Tgc p.R229C ATP11A_uc001vsi.4_Missense_Mutation_p.R229C|ATP11A_uc001vsm.1_Missense_Mutation_p.R105C NM_032189 NP_115565 P98196 AT11A_HUMAN Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA. 229 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.R229L(1) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) GTTCGTGGGTCGCATCAACGT 0.622000 39 7 0 0 1 0 0 VWA7 80737 broad.mit.edu 37 6 31733779 31733779 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31733779C>T uc011dog.2 - 15 2618 c.2380G>A c.(2380-2382)Gat>Aat p.D794N NM_025258 NP_079534 Q9Y334 G7C_HUMAN Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA. 794 extracellular region GCCGCTGAATCTGGGACCTCC 0.627000 299 24 0 0 1 0 0 SLC4A10 57282 broad.mit.edu 37 2 162711484 162711484 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:162711484T>G uc002ubx.4 + 4 605 c.421T>G c.(421-423)Ttg>Gtg p.L141V SLC4A10_uc010fpa.1_Missense_Mutation_p.L153V|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.L152V|SLC4A10_uc002uby.4_Missense_Mutation_p.L141V NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 141 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GTATAGGTGGTTGAAGTTTGA 0.328000 11 4 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160873150 160873150 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:160873150G>A uc002ube.2 - 8 1738 c.1526C>T c.(1525-1527)tCt>tTt p.S509F PLA2R1_uc010zcp.2_Missense_Mutation_p.S509F|PLA2R1_uc002ubf.3_Missense_Mutation_p.S509F NM_007366 NP_031392 Q13018 PLA2R_HUMAN Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA. 509 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 TTCAGCATCAGAGAGGACATG 0.373000 65 9 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62241774 62241774 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:62241774G>A uc002agz.3 - 41 4718 c.4627C>T c.(4627-4629)Cat>Tat p.H1543Y VPS13C_uc002aha.3_Missense_Mutation_p.H1500Y|VPS13C_uc002ahb.2_Missense_Mutation_p.H1543Y|VPS13C_uc002ahc.2_Missense_Mutation_p.H1500Y NM_020821 NP_065872 Q709C8 VP13C_HUMAN Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA. 1543 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 GCTTCCAAATGAAGTACTAAG 0.378000 11 4 0 0 1 0 0 ATF4 468 broad.mit.edu 37 22 39918018 39918018 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:39918018C>T uc003axz.3 + 2 747 c.467C>T c.(466-468)cCc>cTc p.P156L ATF4_uc011aol.1_Missense_Mutation_p.P68L|ATF4_uc003aya.3_Missense_Mutation_p.P156L|ATF4_uc021wpz.1_5'Flank NM_182810 NP_877962 P18848 ATF4_HUMAN Homo sapiens activating transcription factor 4 (tax-responsive enhancer element B67) (ATF4), transcript variant 2, mRNA. 156 cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 Melanoma(58;0.04) CAGGTTGCCCCCTTCACCTTC 0.527000 111 5 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55331226 55331226 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55331226G>A uc002qhl.4 + 3 477 c.414G>A c.(412-414)gaG>gaA p.E138E KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Silent_p.E138E|KIR3DL2_uc010esf.3_Silent_p.E43E|KIR3DL2_uc021vbo.1_Silent_p.E138E|KIR3DL2_uc002qhk.4_Silent_p.E138E P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA. 138 Ig-like C2-type 2. cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) AATCAGGAGAGAGAGTCATCC 0.488000 78 10 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059074 248059074 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:248059074C>T uc010pzb.2 + 0 186 c.186C>T c.(184-186)ttC>ttT p.F62F OR2W3_uc001idp.1_Silent_p.F62F NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGTACTTCTTCCTCGCCCACC 0.572000 109 23 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14057532 14057532 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:14057532C>T uc001avi.3 + 2 903 c.47C>T c.(46-48)gCt>gTt p.A16V PRDM2_uc001avg.3_Missense_Mutation_p.A16V|PRDM2_uc001avh.3_Missense_Mutation_p.A16V NM_012231 NP_036363 Q13029 PRDM2_HUMAN Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA. 16 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GAGACCCTGGCTGAGGTACCC 0.512000 80 6 0 0 1 0 0 KIAA1751 85452 broad.mit.edu 37 1 1905564 1905564 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:1905564C>T uc001aim.1 - 6 730 c.574G>A c.(574-576)Gag>Aag p.E192K KIAA1751_uc009vkz.1_Missense_Mutation_p.E192K NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN Homo sapiens KIAA1751 (KIAA1751), mRNA. 192 breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 32 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CCCGTGGCCTCCACCTCCTCA 0.652000 43 5 0 0 1 0 0 MAFA 389692 broad.mit.edu 37 8 144511634 144511634 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:144511634C>T uc003yyc.2 - 0 969 c.943G>A c.(943-945)Gag>Aag p.E315K NM_201589 NP_963883 Q8NHW3 MAFA_HUMAN Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian) (MAFA), mRNA. 315 insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|lung(1)|upper_aerodigestive_tract(2) 4 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) gccAGCTTCTCGTATTTCTCC 0.721000 HNSCC(29;0.082) 33 6 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102516080 102516080 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:102516080C>T uc001yks.2 + 75 13709 c.13545C>T c.(13543-13545)ttC>ttT p.F4515F NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 4515 G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GTGGCCTGTTCGTGCCTGAGG 0.622000 34 7 0 0 1 0 0 NT5E 4907 broad.mit.edu 37 6 86203648 86203648 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:86203648G>A uc003pko.4 + 8 2207 c.1651G>A c.(1651-1653)Gga>Aga p.G551R NT5E_uc010kbr.3_Missense_Mutation_p.G501R NM_002526 NP_002517 P21589 5NTD_HUMAN Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA. 551 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) GTTTTCCACAGGAAGTCACTG 0.358000 25 4 0 0 1 0 0 FAM46D 169966 broad.mit.edu 37 X 79699198 79699198 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:79699198G>A uc022bzm.1 + 0 1160 c.1160G>A c.(1159-1161)gGt>gAt p.G387D FAM46D_uc004edl.1_Missense_Mutation_p.G387D|FAM46D_uc004edm.2_Missense_Mutation_p.G387D NM_152630 NP_689843 Q8NEK8 FA46D_HUMAN Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA. 387 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 GGATCAAATGGTATGAGTTAA 0.373000 1 3 0 0 1 0 0 TIGD3 220359 broad.mit.edu 37 11 65124131 65124131 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:65124131C>T uc021qlj.1 + 0 852 c.852C>T c.(850-852)ctC>ctT p.L284L TIGD3_uc001odo.4_Silent_p.L284L NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA. 284 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 ACGTGAAGCTCTTGCCTCTGG 0.662000 70 7 0 0 1 0 0 ODZ2 57451 broad.mit.edu 37 5 167675130 167675130 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:167675130G>A uc010jjd.3 + 26 7159 c.7159G>A c.(7159-7161)Gag>Aag p.E2387K ODZ2_uc003lzr.4_Missense_Mutation_p.E2157K|ODZ2_uc003lzt.4_Missense_Mutation_p.E1760K|ODZ2_uc010jje.3_Missense_Mutation_p.E1651K NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GGCCTATGGGGAGATTTATTA 0.527000 125 9 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043854 20043854 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:20043854C>T uc002dgu.1 - 1 427 c.265G>A c.(265-267)Gat>Aat p.D89N GPR139_uc010vaw.1_5'UTR NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA. 89 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 AAGATGAAATCTTCCAACAGG 0.468000 34 6 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9046592 9046592 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9046592G>A uc002mkp.3 - 4 35243 c.35039C>T c.(35038-35040)cCc>cTc p.P11680L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11682 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTCACTAGAGGGAACAGTCCG 0.517000 50 5 0 0 1 0 0 CDX4 1046 broad.mit.edu 37 X 72674277 72674277 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:72674277C>T uc011mqk.2 + 2 711 c.711C>T c.(709-711)tcC>tcT p.S237S NM_005193 NP_005184 O14627 CDX4_HUMAN Homo sapiens caudal type homeobox 4 (CDX4), mRNA. 237 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) AGAAAATCTCCCAGTTTGAGA 0.453000 8 3 0 0 1 0 0 RHO 6010 broad.mit.edu 37 3 129247649 129247649 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:129247649G>A uc003emt.3 + 0 168 c.73G>A c.(73-75)Gag>Aag p.E25K NM_000539 NP_000530 P08100 OPSD_HUMAN Homo sapiens rhodopsin (RHO), mRNA. 25 protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 22 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) CAGCCCCTTCGAGTACCCACA 0.587000 75 12 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120464978 120464978 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:120464978G>A uc001eik.3 - 27 5391 c.5094C>T c.(5092-5094)atC>atT p.I1698I NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 1698 Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.V1697fs*9(1) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GTTTTGCCATGATTACCCCCA 0.502000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 374 34 0 0 1 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456451 5456451 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:5456451G>A uc002mca.4 + 0 1026 c.949G>A c.(949-951)Gag>Aag p.E317K NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA. 317 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GGATGAGTATGAGGAGGGCGA 0.627000 52 4 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133531428 133531428 + Missense_Mutation SNP C T T rs150198489 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:133531428C>T uc002ttp.3 - 15 5463 c.5089G>A c.(5089-5091)Gat>Aat p.D1697N NCKAP5_uc002ttq.3_Missense_Mutation_p.D378N NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 1697 protein binding p.D1697Y(2)|p.D217Y(1) NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GCAACTGCATCGTCTTCATCC 0.333000 78 11 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49162535 49162535 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:49162535G>A uc003cwe.3 - 19 3087 c.2788C>T c.(2788-2790)Cct>Tct p.P930S LAMB2_uc003cwf.1_Missense_Mutation_p.P930S NM_002292 NP_002283 P55268 LAMB2_HUMAN Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA. 930 Laminin EGF-like 9. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GGGCCTTCAGGACAGGGACAG 0.597000 40 4 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73678219 73678219 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:73678219C>T uc002sje.1 + 7 4673 c.4562C>T c.(4561-4563)tCc>tTc p.S1521F ALMS1_uc002sjf.1_Missense_Mutation_p.S1479F|ALMS1_uc002sjg.3_Missense_Mutation_p.S909F|ALMS1_uc002sjh.1_Missense_Mutation_p.S909F NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 1521 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 ACCTCTCCTTCCTACTCACAA 0.488000 41 12 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241659326 241659326 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:241659326G>A uc010fzk.3 - 45 5133 c.4886C>T c.(4885-4887)tCc>tTc p.S1629F KIF1A_uc002vzy.3_Missense_Mutation_p.S1528F|KIF1A_uc002vzw.3_Missense_Mutation_p.S189F|KIF1A_uc002vzx.3_Missense_Mutation_p.S255F NM_001244008 NP_001230937 Q12756 KIF1A_HUMAN Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA. 1528 PH. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GGCTGGCCGGGAGCAGGGCTG 0.701000 70 17 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247752325 247752325 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:247752325G>A uc010pyy.2 + 0 664 c.664G>A c.(664-666)Ggc>Agc p.G222S NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA. 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GGTCTCCTCTGGCTACATTGC 0.502000 33 4 0 0 1 0 0 C7orf57 136288 broad.mit.edu 37 7 48081078 48081078 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:48081078C>T uc003toh.4 + 2 415 c.203C>T c.(202-204)tCg>tTg p.S68L C7orf57_uc003toi.4_5'UTR NM_001100159 NP_001093629 Q8NEG2 CG057_HUMAN Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA. 68 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 GAAACAGATTCGGAATATGTG 0.597000 7 4 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139391459 139391459 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:139391459G>A uc004chz.3 - 33 6732 c.6732C>T c.(6730-6732)atC>atT p.I2244I NM_017617 NP_060087 P46531 NOTC1_HUMAN Homo sapiens notch 1 (NOTCH1), mRNA. 2244 Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.S2163_T2283del(2)|p.K2182fs*61(1) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TCAGGTGCCCGATGCCCAGGT 0.716000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 21 7 0 0 1 0 0 PADI1 29943 broad.mit.edu 37 1 17566267 17566267 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:17566267C>T uc001bah.1 + 13 1713 c.1621C>T c.(1621-1623)Ctt>Ttt p.L541F PADI1_uc010oco.1_Missense_Mutation_p.L98F|PADI1_uc010ocp.1_Missense_Mutation_p.L98F|PADI1_uc010ocq.1_Missense_Mutation_p.L12F|PADI1_uc009vpb.1_5'UTR NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA. 541 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) GAGAGACAATCTTCATGCACA 0.507000 19 4 0 0 1 0 0 ZBP1 81030 broad.mit.edu 37 20 56179743 56179743 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:56179743G>A uc002xyo.3 - 7 1457 c.1176C>T c.(1174-1176)ctC>ctT p.L392L ZBP1_uc010gjm.3_Silent_p.L391L|ZBP1_uc002xyp.3_Silent_p.L317L NM_030776 NP_110403 Q9H171 ZBP1_HUMAN Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA. 392 cytoplasm|nucleus RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) GCTTGGGGGTGAGCTTCGAGT 0.552000 116 7 0 0 1 0 0 ICA1 3382 broad.mit.edu 37 7 8167502 8167502 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:8167502C>T uc003sro.4 - 13 1466 c.1330_splice c.e13+1 p.E444_splice ICA1_uc010ktr.3_Splice_Site_p.E473_splice|ICA1_uc003srm.3_Splice_Site_p.E444_splice|ICA1_uc003srn.4_Splice_Site_p.E370_splice|ICA1_uc003srq.3_Splice_Site_p.E444_splice|ICA1_uc003srr.3_Splice_Site_p.E443_splice|ICA1_uc010kts.3_Splice_Site NM_001136020 NP_071682 Q05084 ICA69_HUMAN Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA. 444 neurotransmitter transport Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) ACCTTACCTACCTTGTAGCGA 0.423000 134 10 0 0 1 0 0 SENP5 205564 broad.mit.edu 37 3 196612840 196612841 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:196612840_196612841CC>TT uc003fwz.4 + 1 1037_1038 c.788_789CC>TT c.(787-789)gcc>gTT p.A263V SENP5_uc011bty.2_Missense_Mutation_p.A263V NM_152699 NP_689912 Q96HI0 SENP5_HUMAN Homo sapiens SUMO1/sentrin specific peptidase 5 (SENP5), mRNA. 263 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) CTAAGAAAAGCCCAGCGAAGCT 0.480000 44 7 0 0 1 0 0 OR5AK2 390181 broad.mit.edu 37 11 56757090 56757090 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:56757090G>A uc010rjp.2 + 0 702 c.702G>A c.(700-702)agG>agA p.R234R NM_001005323 NP_001005323 Q8NH90 O5AK2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA. 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 GTGCAGGAAGGAAAAAATCCT 0.423000 20 6 0 0 1 0 0 CLEC3A 10143 broad.mit.edu 37 16 78064421 78064421 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:78064421G>A uc002ffh.4 + 2 358 c.277G>A c.(277-279)Gaa>Aaa p.E93K CLEC3A_uc021tlr.1_Missense_Mutation_p.E41K NM_005752 NP_005743 O75596 CLC3A_HUMAN Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA. 93 C-type lectin. skeletal system development extracellular region sugar binding NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 TGAGGCCAATGAAGACTGCAT 0.468000 45 5 0 0 1 0 0 abParts 0 broad.mit.edu 37 2 90077780 90077780 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:90077780G>A uc010yts.2 + 22 c.2583G>A Parts of antibodies, mostly variable regions. GGGAACCATGGAAACCCCAGC 0.577000 70 5 0 0 1 0 0 TEKT5 146279 broad.mit.edu 37 16 10788325 10788325 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:10788325C>T uc002czz.1 - 0 478 c.406G>A c.(406-408)Ggc>Agc p.G136S NM_144674 NP_653275 Q96M29 TEKT5_HUMAN Homo sapiens tektin 5 (TEKT5), mRNA. 136 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 CGGCAGGTGCCCTCCTGCATC 0.627000 112 13 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111397658 111397658 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:111397658G>A uc003iab.4 + 0 430 c.88G>A c.(88-90)Gga>Aga p.G30R NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 30 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) GGTGGGTGTAGGATTAATAGT 0.557000 155 9 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96578027 96578027 + Splice_Site SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:96578027A>G uc001vmt.3 - 20 2371 c.2201_splice c.e20-1 p.D734_splice NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA. 734 post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding ER-Golgi intermediate compartment|endoplasmic reticulum lumen UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TTATACTCTCATCTGAAAGTT 0.294000 10 6 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32190842 32190842 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:32190842G>A uc003obb.3 - 1 234 c.95C>T c.(94-96)cCa>cTa p.P32L NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.P32L NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 32 EGF-like 1. Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 ACAGGGTTCTGGGAAACTCCC 0.607000 163 9 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80382720 80382720 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:80382720C>T uc003kha.2 + 8 1388 c.1338C>T c.(1336-1338)atC>atT p.I446I RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Silent_p.I274I NM_006909 NP_008840 O14827 RGRF2_HUMAN Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA. 446 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane Rho guanyl-nucleotide exchange factor activity|protein binding biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) AAAGAATGATCGTGGAGGGCT 0.507000 53 9 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120437752 120437752 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:120437752C>T uc001eij.3 - 0 1396 c.1208G>A c.(1207-1209)gGa>gAa p.G403E NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 403 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) AATTTTGTTTCCACATCTCTT 0.388000 566 141 0 0 1 0 0 TTC21A 199223 broad.mit.edu 37 3 39169877 39169877 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:39169877C>T uc003cjc.2 + 12 1776 c.1599C>T c.(1597-1599)gcC>gcT p.A533A TTC21A_uc011ayx.1_Silent_p.A485A|TTC21A_uc003cjd.2_Non-coding_Transcript NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA. 533 binding p.P533P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TGGACCCCGCCTCCGTGGATG 0.547000 49 4 0 0 1 0 0 RPTOR 57521 broad.mit.edu 37 17 78938108 78938108 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:78938108C>T uc002jyt.1 + 33 4791 c.3986C>T c.(3985-3987)tCg>tTg p.S1329L RPTOR_uc010wug.1_Missense_Mutation_p.S1171L|RPTOR_uc002jyu.1_Missense_Mutation_p.S222L NM_020761 NP_065812 Q8N122 RPTOR_HUMAN Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA. 1329 TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity TORC1 complex|cytosol|lysosome protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 TCCGTGTACTCGGTGGAGAAG 0.652000 83 10 0 0 1 0 0 BPIFC 254240 broad.mit.edu 37 22 32828379 32828379 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:32828379G>A uc003amn.2 - 9 1130 c.1130C>T c.(1129-1131)aCc>aTc p.T377I BPIFC_uc010gwo.2_Intron|BPIFC_uc011amb.1_Missense_Mutation_p.T101I NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN Homo sapiens BPI fold containing family C (BPIFC), mRNA. 377 extracellular region lipopolysaccharide binding|phospholipid binding GGAAACGATGGTTTCAACTGT 0.512000 87 6 0 0 1 0 0 KIAA1804 84451 broad.mit.edu 37 1 233514855 233514855 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:233514855C>T uc001hvt.4 + 8 2364 c.2103C>T c.(2101-2103)tcC>tcT p.S701S KIAA1804_uc001hvu.4_Silent_p.S147S NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA. 701 S -> T (in Ref. 1; CAC84640). activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4) 52 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) CCACAGTCTCCATTGAGATGA 0.527000 45 6 0 0 1 0 0 EPS8L3 79574 broad.mit.edu 37 1 110293935 110293935 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:110293935G>A uc001dyr.2 - 16 1827 c.1602C>T c.(1600-1602)gtC>gtT p.V534V EPS8L3_uc001dys.2_Silent_p.V504V|EPS8L3_uc001dyq.2_Silent_p.V535V|EPS8L3_uc009wfm.2_Silent_p.V471V NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA. 534 cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) GCCAGTCTGTGACCTCTTCAG 0.537000 39 11 0 0 1 0 0 OR8B3 390271 broad.mit.edu 37 11 124266685 124266685 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:124266685G>A uc010saj.2 - 0 563 c.563C>T c.(562-564)tCc>tTc p.S188F OR8B2_uc001qab.3_Intron NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA. 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GCTGGTGCAGGAAAGCTGGAG 0.473000 32 4 0 0 1 0 0 TSKS 60385 broad.mit.edu 37 19 50247554 50247554 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:50247554C>T uc002ppm.3 - 7 1306 c.1295G>A c.(1294-1296)cGa>cAa p.R432Q NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA. 432 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) AGGCCCTCTTCGAGAGTTCTG 0.612000 53 5 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123164887 123164887 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:123164887C>T uc004eua.3 + 4 604 c.200C>T c.(199-201)cCa>cTa p.P67L STAG2_uc004etz.4_Missense_Mutation_p.P67L|STAG2_uc004eub.3_Missense_Mutation_p.P67L|STAG2_uc004euc.3_Missense_Mutation_p.P67L|STAG2_uc004eud.3_Missense_Mutation_p.P67L|STAG2_uc004eue.3_Missense_Mutation_p.P67L NM_001042749 NP_001036215 Q8N3U4 STAG2_HUMAN Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA. 67 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 CCTTCTGGTCCAAACCGAATG 0.418000 30 5 0 0 1 0 0 CYP4B1 1580 broad.mit.edu 37 1 47279701 47279701 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:47279701C>T uc001cqn.4 + 5 825 c.741C>T c.(739-741)ttC>ttT p.F247F CYP4B1_uc009vyl.1_Silent_p.F83F|CYP4B1_uc001cqm.4_Silent_p.F246F|CYP4B1_uc009vym.3_Silent_p.F232F|CYP4B1_uc010omk.2_Silent_p.F83F|CYP4B1_uc010oml.1_Silent_p.F84F NM_001099772 NP_001093242 P13584 CP4B1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA. 246 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) GCCGCCGCTTCCTGCGGGCCT 0.597000 121 24 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136566156 136566156 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:136566156C>T uc002tuu.1 - 7 3772 c.3761G>A c.(3760-3762)cGa>cAa p.R1254Q NM_002299 NP_002290 P09848 LPH_HUMAN Homo sapiens lactase (LCT), mRNA. 1254 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CAGCAGCCTTCGCGTCCCCCA 0.567000 64 12 0 0 1 0 0 LPIN3 64900 broad.mit.edu 37 20 39984583 39984583 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:39984583C>T uc010ggh.3 + 13 1806 c.1715C>T c.(1714-1716)cCt>cTt p.P572L LPIN3_uc002xjx.3_Missense_Mutation_p.P571L|LPIN3_uc010zwf.2_Non-coding_Transcript NM_022896 NP_075047 Q9BQK8 LPIN3_HUMAN Homo sapiens lipin 3 (LPIN3), mRNA. 571 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) CCAGACAGCCCTGTGATCCTG 0.587000 68 5 0 0 1 0 0 PIF1 80119 broad.mit.edu 37 15 65114473 65114473 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:65114473G>A uc002ant.2 - 3 875 c.809C>T c.(808-810)gCc>gTc p.A270V PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Missense_Mutation_p.A270V|PIF1_uc002anu.3_3'UTR NM_025049 NP_079325 Q9H611 PIF1_HUMAN Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA. 270 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding kidney(1)|lung(1) 2 ACCTGCAAAGGCATGGAGGGT 0.612000 76 6 0 0 1 0 0 FAM75C1 441452 broad.mit.edu 37 9 90535331 90535331 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:90535331G>A uc010mqi.3 + 3 538 c.509G>A c.(508-510)cGa>cAa p.R170Q FAM75C1_uc004apq.4_Missense_Mutation_p.R153Q NM_001145124 NP_001138596 Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA. CCGGATCCTCGAACCAAGCAT 0.592000 132 29 0 0 1 0 0 EXOC7 23265 broad.mit.edu 37 17 74082214 74082214 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:74082214G>A uc002jqs.3 - 13 1690 c.1595C>T c.(1594-1596)tCg>tTg p.S532L EXOC7_uc002jqp.2_5'Flank|EXOC7_uc010dgv.2_Intron|EXOC7_uc010wsv.2_Missense_Mutation_p.S453L|EXOC7_uc010wsw.2_Missense_Mutation_p.S504L|EXOC7_uc002jqq.3_Missense_Mutation_p.S481L|EXOC7_uc010wsx.2_Missense_Mutation_p.S473L|EXOC7_uc002jqr.3_Missense_Mutation_p.S450L NM_001145297 NP_001138769 Q9UPT5 EXOC7_HUMAN Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA. 532 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 14 LUSC - Lung squamous cell carcinoma(166;0.187) GCTGGTGGCCGAAGAGCTGGT 0.602000 73 8 0 0 1 0 0 MOGAT2 80168 broad.mit.edu 37 11 75439132 75439132 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:75439132C>T uc010rru.2 + 3 593 c.593C>T c.(592-594)tCc>tTc p.S198F MOGAT2_uc001oww.1_Missense_Mutation_p.S198F|MOGAT2_uc010rrv.2_Missense_Mutation_p.S116F NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA. 198 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) AGGCCTGGATCCTTCACGCTG 0.582000 37 4 0 0 1 0 0 CASKIN1 57524 broad.mit.edu 37 16 2231248 2231248 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:2231248C>T uc010bsg.1 - 17 2153 c.2121G>A c.(2119-2121)caG>caA p.Q707Q NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA. 707 signal transduction cytoplasm breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 CCAGCAGCTCCTGCGAGCTGC 0.726000 17 6 0 0 1 0 0 PAX2 5076 broad.mit.edu 37 10 102566297 102566297 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:102566297C>T uc001krk.4 + 6 1346 c.796C>T c.(796-798)Cgg>Tgg p.R266W PAX2_uc001krm.4_Missense_Mutation_p.R266W|PAX2_uc001krn.4_Missense_Mutation_p.R243W|PAX2_uc001kro.4_Missense_Mutation_p.R243W|PAX2_uc010qps.2_Missense_Mutation_p.R242W|PAX2_uc001krl.4_Missense_Mutation_p.R243W|PAX2_uc001krp.1_Missense_Mutation_p.R239W NM_003990 NP_003981 Q02962 PAX2_HUMAN Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA. 266 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) AGCTTTGGATCGGGTCTTTGA 0.542000 243 23 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193036848 193036848 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:193036848G>A uc011bsq.2 - 16 1965 c.1965C>T c.(1963-1965)ttC>ttT p.F655F NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 655 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CAATGACACGGAAGCCTTGCA 0.483000 53 6 0 0 1 0 0 ANKRD13D 338692 broad.mit.edu 37 11 67067323 67067323 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:67067323C>T uc001okd.2 + 8 1076 c.906C>T c.(904-906)ttC>ttT p.F302F ANKRD13D_uc001okc.2_Silent_p.F215F|ANKRD13D_uc001oke.2_Silent_p.F215F|ANKRD13D_uc001okg.2_5'UTR|ANKRD13D_uc001okh.2_5'UTR|ANKRD13D_uc001oki.2_5'Flank NM_207354 NP_997237 Q6ZTN6 AN13D_HUMAN Homo sapiens ankyrin repeat domain 13 family, member D (ANKRD13D), transcript variant 1, mRNA. 215 p.A302T(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) TCCAGTCCTTCCTGGGGATGG 0.706000 56 11 0 0 1 0 0 FBXO7 25793 broad.mit.edu 37 22 32889265 32889265 + Nonsense_Mutation SNP C T T rs78099169 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:32889265C>T uc003amq.3 + 6 1424 c.1141C>T c.(1141-1143)Cga>Tga p.R381* FBXO7_uc003amt.3_Nonsense_Mutation_p.R302*|FBXO7_uc003amu.3_Nonsense_Mutation_p.R267*|FBXO7_uc003amv.3_Nonsense_Mutation_p.R80* NM_012179 NP_036311 Q9Y3I1 FBX7_HUMAN Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA. 381 cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCGTGATTTTCGAGGTGATTT 0.408000 39 4 0 0 1 0 0 SULT2B1 6820 broad.mit.edu 37 19 49100166 49100166 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:49100166C>T uc002pjl.3 + 5 897 c.816C>T c.(814-816)ttC>ttT p.F272F SULT2B1_uc002pjm.3_Silent_p.F257F NM_177973 NP_814444 O00204 ST2B1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA. 272 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 11 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178) GCGGGGCCTTCCTCCGGAAAG 0.627000 9 3 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109812051 109812051 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:109812051C>T uc001dxa.4 + 20 6879 c.6818C>T c.(6817-6819)cCc>cTc p.P2273L NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA. 2273 Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) ATCAGAGTCCCCAAACGCCCG 0.632000 263 65 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100359971 100359971 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:100359971G>A uc003uwj.3 + 19 4141 c.3976G>A c.(3976-3978)Gag>Aag p.E1326K ZAN_uc003uwk.3_Missense_Mutation_p.E1326K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_5'UTR NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 1326 VWFD 1. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GGACCAGGACGAGGACCAGGA 0.542000 31 4 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390871 197390871 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:197390871C>T uc001gtz.3 + 5 2122 c.1913C>T c.(1912-1914)tCg>tTg p.S638L CRB1_uc010poz.2_Missense_Mutation_p.S569L|CRB1_uc009wza.3_Missense_Mutation_p.S526L|CRB1_uc010ppa.2_Intron|CRB1_uc010ppb.2_Missense_Mutation_p.S638L|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.S119L|CRB1_uc001gub.1_Missense_Mutation_p.S287L NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 638 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TCCACACCTTCGTTTGTAGGC 0.428000 63 4 0 0 1 0 0 TSNAXIP1 55815 broad.mit.edu 37 16 67854835 67854835 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:67854835G>A uc010vka.2 + 2 317 c.241G>A c.(241-243)Gac>Aac p.D81N TSNAXIP1_uc010cep.2_5'UTR|TSNAXIP1_uc010vjz.1_Intron|TSNAXIP1_uc002euf.4_Intron|TSNAXIP1_uc010vkb.2_Intron|TSNAXIP1_uc002eug.4_Intron|TSNAXIP1_uc002euh.4_Intron|TSNAXIP1_uc002eui.4_Intron|TSNAXIP1_uc002euj.3_Missense_Mutation_p.D27N|TSNAXIP1_uc002euk.3_5'Flank NM_018430 NP_060900 Q2TAA8 TXIP1_HUMAN Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA. 27 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) CTGTTCAGATGACTACCGGAA 0.592000 174 12 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140801552 140801552 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140801552C>T uc003lkq.2 + 0 1016 c.758C>T c.(757-759)cCa>cTa p.P253L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.P253L|PCDHGC5_uc003lkp.2_Missense_Mutation_p.P253L NM_018914 NP_061737 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA. 252 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGAGTGTTCCAGAAAACATC 0.488000 119 19 0 0 1 0 0 RCSD1 92241 broad.mit.edu 37 1 167666899 167666899 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:167666899G>A uc001gem.3 + 5 1225 c.1038G>A c.(1036-1038)aaG>aaA p.K346K RCSD1_uc010pli.2_Silent_p.K316K NM_052862 NP_443094 Q6JBY9 CPZIP_HUMAN Homo sapiens RCSD domain containing 1 (RCSD1), mRNA. 346 NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) CTGCAGTGAAGGAGACCCCCC 0.572000 20 3 0 0 1 0 0 FOXG1 2290 broad.mit.edu 37 14 29237687 29237687 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:29237687C>T uc001wqe.3 + 0 1401 c.1202C>T c.(1201-1203)tCc>tTc p.S401F NM_005249 NP_005240 P55316 FOXG1_HUMAN Homo sapiens forkhead box G1 (FOXG1), mRNA. 401 Interaction with KDM5B. axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GGGACCTACTCCCTCAACCCC 0.672000 22 6 0 0 1 0 0 OR3A1 4994 broad.mit.edu 37 17 3195330 3195330 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:3195330C>T uc002fvh.1 - 0 547 c.547G>A c.(547-549)Gac>Aac p.D183N NM_002550 NP_002541 P47881 OR3A1_HUMAN Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA. 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 TGTGGGAGGTCACAGTAGAAG 0.542000 103 7 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64468761 64468761 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:64468761C>T uc001xgl.3 + 28 3978 c.3748C>T c.(3748-3750)Cat>Tat p.H1250Y SYNE2_uc001xgm.3_Missense_Mutation_p.H1250Y|SYNE2_uc021ruh.1_Missense_Mutation_p.H1250Y NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 1250 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CCAGGGATTTCATCTCATTGA 0.413000 49 8 0 0 1 0 0 EIF4A3 9775 broad.mit.edu 37 17 78112043 78112043 + Silent SNP G A A rs61756263 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:78112043G>A uc010wuc.2 - 8 838 c.765C>T c.(763-765)ttC>ttT p.F255F EIF4A3_uc002jxs.3_Silent_p.F255F NM_014740 NP_055555 P38919 IF4A3_HUMAN Homo sapiens eukaryotic translation initiation factor 4A3 (EIF4A3), mRNA. 255 Helicase C-terminal. mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 10 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) CCACTGCCACGAAAAATTGCT 0.468000 75 14 0 0 1 0 0 LMBRD2 92255 broad.mit.edu 37 5 36142655 36142655 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:36142655G>A uc003jkb.1 - 2 636 c.221C>T c.(220-222)cCt>cTt p.P74L NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA. 74 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCTATTCTCAGGAGGGCTTGA 0.368000 83 12 0 0 1 0 0 C2orf54 79919 broad.mit.edu 37 2 241827960 241827960 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:241827960T>A uc002wae.4 - 3 1159 c.1000A>T c.(1000-1002)Acg>Tcg p.T334S C2orf54_uc002wac.3_Missense_Mutation_p.T166S|C2orf54_uc002wad.3_Missense_Mutation_p.T185S NM_001085437 NP_001078906 Q08AI8 CB054_HUMAN Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA. 334 haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1) 6 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) AGCTTCCGCGTGGCCAGGCAA 0.692000 19 3 0 0 1 0 0 SERHL2 253190 broad.mit.edu 37 22 42956258 42956258 + Silent SNP G A A rs150625034 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:42956258G>A uc003bcr.3 + 7 702 c.600G>A c.(598-600)acG>acA p.T200T SERHL2_uc011apn.1_Silent_p.T186T|SERHL2_uc010gyz.3_Silent_p.T136T|SERHL2_uc010gyy.3_Non-coding_Transcript|SERHL2_uc011apo.2_Non-coding_Transcript|RRP7B_uc003bcs.3_Intron NM_014509 NP_055324 Q9H4I8 SEHL2_HUMAN Homo sapiens serine hydrolase-like 2 (SERHL2), mRNA. 200 perinuclear region of cytoplasm|peroxisome hydrolase activity breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1) 8 GAGGAACCACGAAGGTGGCCA 0.522000 113 7 0 0 1 0 0 GALNT6 11226 broad.mit.edu 37 12 51751158 51751158 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:51751158G>A uc001ryk.2 - 8 1802 c.1577C>T c.(1576-1578)tCc>tTc p.S526F GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.S526F|GALNT6_uc001ryj.1_Missense_Mutation_p.S91F NM_007210 NP_009141 Q8NCL4 GALT6_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA. 526 Ricin B-type lectin. protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GCCGTGGCAGGAGTACATGAT 0.592000 39 6 0 0 1 0 0 HOXA7 3204 broad.mit.edu 37 7 27194647 27194647 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:27194647C>T uc003sys.3 - 1 706 c.574G>A c.(574-576)Gaa>Aaa p.E192K HOXA-AS3_uc003syr.2_3'UTR|HOXA-AS3_uc003syp.2_3'UTR|HOXA6_uc003syq.1_5'Flank NM_006896 NP_008827 P31268 HXA7_HUMAN Homo sapiens homeobox A7 (HOXA7), mRNA. 192 angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding|transcription factor binding endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1) 16 GTCGGACCTTCGTCCTTATGC 0.637000 133 15 0 0 1 0 0 AP4B1 10717 broad.mit.edu 37 1 114438613 114438613 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:114438613G>A uc001eeb.3 - 8 1744 c.1558C>T c.(1558-1560)Cgc>Tgc p.R520C LOC100287722_uc001edv.1_Intron|AP4B1_uc001eec.3_Missense_Mutation_p.R352C|AP4B1_uc010owp.2_Missense_Mutation_p.R421C|AP4B1_uc001eed.3_Missense_Mutation_p.R520C|AP4B1_uc001eea.1_3'UTR|AP4B1_uc001eee.1_Missense_Mutation_p.R47C NM_001253852 NP_001240781 Q9Y6B7 AP4B1_HUMAN Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA. 520 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3) 25 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AAGAGGAGGCGATAATAGAAG 0.438000 26 10 0 0 1 0 0 FITM1 161247 broad.mit.edu 37 14 24601895 24601895 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:24601895C>T uc001wmf.2 + 1 840 c.742C>T c.(742-744)Cac>Tac p.H248Y NM_203402 NP_981947 A5D6W6 FITM1_HUMAN Homo sapiens fat storage-inducing transmembrane protein 1 (FITM1), mRNA. 248 lipid particle organization|positive regulation of sequestering of triglyceride endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 CCAGTACACTCACAAGGTGGT 0.612000 83 5 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138713957 138713957 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:138713957G>A uc004cgr.4 - 10 2550 c.2550C>T c.(2548-2550)gcC>gcT p.A850A CAMSAP1_uc004cgq.4_Silent_p.A740A|CAMSAP1_uc010nbg.3_Silent_p.A572A NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA. 850 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) TCGTCAGAGGGGCTGGGCAGC 0.617000 17 4 0 0 1 0 0 OR11H4 390442 broad.mit.edu 37 14 20711020 20711020 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:20711020C>T uc010tld.2 + 0 70 c.70C>T c.(70-72)Ctc>Ttc p.L24F NM_001004479 NP_001004479 Q8NGC9 O11H4_HUMAN Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA. 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) AGAGTTTATTCTCCTGGGATT 0.418000 25 5 0 0 1 0 0 CYP21A2 1589 broad.mit.edu 37 6 32006897 32006897 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:32006897G>A uc003nze.2 + 2 426 c.319G>A c.(319-321)Gac>Aac p.D107N CYP21A2_uc003nzf.2_Missense_Mutation_p.D77N NM_000500 NP_000491 P08686 CP21A_HUMAN Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA. 106 L -> R (in AH3; loss of activity). glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 GAACTACCCGGACCTGTCCTT 0.622000 160 6 0 0 1 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228585 57228585 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:57228585C>T uc010lyk.1 - 1 960 c.322G>A c.(322-324)Gta>Ata p.V108I SDR16C5_uc003xsy.1_Missense_Mutation_p.V108I|SDR16C5_uc010lyl.1_Missense_Mutation_p.V108I NM_138969 NP_620419 Q8N3Y7 RDHE2_HUMAN Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA. 108 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 TGGTCGGCTACTCTATACACT 0.463000 104 9 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168123337 168123337 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:168123337C>T uc010jjg.3 - 27 3483 c.3063G>A c.(3061-3063)ggG>ggA p.G1021G SLIT3_uc003mab.3_Silent_p.G1014G NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 1014 EGF-like 3. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGTTGTTGATCCCGTCCACGC 0.532000 68 5 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145012849 145012849 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:145012849G>A uc003zaf.1 - 1 705 c.535C>T c.(535-537)Cgt>Tgt p.R179C PLEC_uc003zab.1_Missense_Mutation_p.R42C|PLEC_uc003zac.1_Missense_Mutation_p.R46C|PLEC_uc003zad.2_Missense_Mutation_p.R42C|PLEC_uc003zae.1_Missense_Mutation_p.R10C|PLEC_uc003zag.1_Missense_Mutation_p.R20C|PLEC_uc003zah.2_Missense_Mutation_p.R28C|PLEC_uc003zaj.2_Missense_Mutation_p.R69C NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 179 Actin-binding.|CH 1.|Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TTCTGCACACGATCCCGCTCA 0.627000 51 5 0 0 1 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73933740 73933740 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:73933740C>T uc003uaq.3 + 6 999 c.606_splice c.e6-1 p.R202_splice GTF2IRD1_uc010lbq.3_Splice_Site_p.R234_splice|GTF2IRD1_uc003uap.3_Splice_Site_p.R202_splice|GTF2IRD1_uc003uar.1_Splice_Site_p.R202_splice NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA. 202 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TTTACTCAGGCCACTTGAGGA 0.592000 155 36 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205892484 205892484 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:205892484G>A uc001hdp.3 - 14 1752 c.1638C>T c.(1636-1638)ttC>ttT p.F546F SLC26A9_uc001hdo.3_Silent_p.F214F|SLC26A9_uc001hdq.3_Silent_p.F546F NM_134325 NP_599152 Q7LBE3 S26A9_HUMAN Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA. 546 STAS. integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) CCTTTTGCCTGAAGATCTCTG 0.552000 109 14 0 0 1 0 0 AHSP 51327 broad.mit.edu 37 16 31539475 31539475 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:31539475G>A uc002ecj.3 + 1 100 c.15G>A c.(13-15)aaG>aaA p.K5K NM_016633 NP_057717 Q9NZD4 AHSP_HUMAN Homo sapiens alpha hemoglobin stabilizing protein (AHSP), mRNA. 5 hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization hemoglobin complex hemoglobin binding|unfolded protein binding lung(2) 2 CTCTTCTTAAGGCCAATAAGG 0.478000 67 7 0 0 1 0 0 IPO9 55705 broad.mit.edu 37 1 201835969 201835969 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:201835969C>T uc001gwz.3 + 14 1787 c.1737C>T c.(1735-1737)gtC>gtT p.V579V NM_018085 NP_060555 Q96P70 IPO9_HUMAN Homo sapiens importin 9 (IPO9), mRNA. 579 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 GCTCAGAGGTCCTCAACCTGG 0.522000 110 9 0 0 1 0 0 SLC34A1 6569 broad.mit.edu 37 5 176823738 176823738 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:176823738C>T uc003mgk.4 + 10 1283 c.1179C>T c.(1177-1179)ttC>ttT p.F393F NM_003052 NP_003043 Q06495 NPT2A_HUMAN Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA. 393 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTGCAGACTTCCCTGCCCCCT 0.647000 52 7 0 0 1 0 0 NFIX 4784 broad.mit.edu 37 19 13136080 13136080 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:13136080C>T uc010xmx.2 + 1 350 c.297C>T c.(295-297)ttC>ttT p.F99F NFIX_uc002mwd.3_Silent_p.F91F|NFIX_uc002mwe.3_Silent_p.F83F|NFIX_uc002mwf.3_Silent_p.F94F|NFIX_uc002mwg.2_Silent_p.F90F Q14938 NFIX_HUMAN Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA. 91 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) GCGAGGACTTCGTGCTGACCA 0.652000 39 7 0 0 1 0 0 SCYL2 55681 broad.mit.edu 37 12 100717320 100717320 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:100717320C>T uc001thn.3 + 10 1463 c.1413C>T c.(1411-1413)atC>atT p.I471I SCYL2_uc009ztw.1_Silent_p.I298I|SCYL2_uc001thm.1_Silent_p.I471I NM_017988 NP_060458 Q6P3W7 SCYL2_HUMAN Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA. 471 endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization Golgi apparatus|clathrin-coated vesicle|endosome membrane|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 GTCTAAACATCATTCCAACCT 0.343000 34 4 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81058166 81058166 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:81058166C>T uc001kaf.2 + 14 2067 c.1495C>T c.(1495-1497)Ccc>Tcc p.P499S ZMIZ1_uc001kag.2_Missense_Mutation_p.P375S NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA. 499 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CCTCCAGCCTCCCAGGCCGGT 0.602000 160 25 0 0 1 0 0 CD1D 912 broad.mit.edu 37 1 158151337 158151337 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:158151337G>A uc001frr.3 + 2 653 c.154G>A c.(154-156)Gag>Aag p.E52K CD1D_uc009wsr.1_Missense_Mutation_p.E52K|CD1D_uc009wss.3_Missense_Mutation_p.E52K|CD1D_uc009wst.1_5'UTR NM_001766 NP_001757 P15813 CD1D_HUMAN Homo sapiens CD1d molecule (CD1D), mRNA. 52 T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) GTGGCTGGGGGAGCTGCAGAC 0.652000 210 16 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142626639 142626639 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:142626639G>A uc003wby.1 - 3 635 c.371C>T c.(370-372)gCt>gTt p.A124V TRPV5_uc003wbz.3_Missense_Mutation_p.A124V NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA. 124 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity p.I123I(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) GTTCACAACAGCGATGTGCAG 0.627000 73 4 0 0 1 0 0 PGD 5226 broad.mit.edu 37 1 10477456 10477456 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:10477456C>T uc001arc.3 + 9 1089 c.999C>T c.(997-999)atC>atT p.I333I PGD_uc010oak.2_Silent_p.I311I NM_002631 NP_002622 P52209 6PGD_HUMAN Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA. 333 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 14 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) CCAAGATCATCTCTTACGCTC 0.507000 208 22 0 0 1 0 0 SYT12 91683 broad.mit.edu 37 11 66807446 66807446 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:66807446C>T uc009yrl.3 + 3 623 c.393C>T c.(391-393)tcC>tcT p.S131S SYT12_uc001oju.3_Silent_p.S131S NM_001177880 NP_808878 Q8IV01 SYT12_HUMAN Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA. 131 cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 TCCGGAAGTCCCAGTCGGCCG 0.607000 54 7 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1785617 1785617 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:1785617C>T uc002ltw.3 - 25 3478 c.3244G>A c.(3244-3246)Gcc>Acc p.A1082T ATP8B3_uc002ltv.3_Missense_Mutation_p.A1045T|ATP8B3_uc002ltx.3_Non-coding_Transcript NM_138813 NP_620168 O60423 AT8B3_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA. 1082 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGCGATGGCTTGGACGAAG 0.612000 32 4 0 0 1 0 0 CDR2 1039 broad.mit.edu 37 16 22360638 22360638 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:22360638G>A uc002dkn.3 - 3 776 c.468C>T c.(466-468)ccC>ccT p.P156P NM_001802 NP_001793 Q01850 CDR2_HUMAN Homo sapiens cerebellar degeneration-related protein 2, 62kDa (CDR2), mRNA. 156 nucleus protein binding endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 GBM - Glioblastoma multiforme(48;0.0188) ATGCAAAGCTGGGTGCCGGTT 0.537000 98 10 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7583684 7583684 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:7583684G>A uc003mxp.1 + 23 6468 c.6189G>A c.(6187-6189)cgG>cgA p.R2063R DSP_uc003mxq.1_Silent_p.R1464R|DSP_uc021yle.1_Silent_p.R1620R NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2063 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ATCCCCATCGGAATGAGAAGC 0.483000 81 7 0 0 1 0 0 USP33 23032 broad.mit.edu 37 1 78177434 78177434 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:78177434G>A uc001dht.3 - 21 2844 c.2497C>T c.(2497-2499)Cgg>Tgg p.R833W USP33_uc001dhs.3_Missense_Mutation_p.R554W|USP33_uc001dhu.3_Missense_Mutation_p.R802W|USP33_uc001dhv.3_Missense_Mutation_p.R638W|USP33_uc001dhw.3_Missense_Mutation_p.R825W NM_015017 NP_963918 Q8TEY7 UBP33_HUMAN Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA. 833 DUSP 2. axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process VCB complex|perinuclear region of cytoplasm G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 TTTTTTACCCGAATAAAAATT 0.318000 21 6 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101590174 101590174 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:101590174C>T uc001kqf.2 + 19 2870 c.2731C>T c.(2731-2733)Cga>Tga p.R911* NM_000392 NP_000383 Q92887 MRP2_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA. 911 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CAGCTTTCGTCGAACACTTAG 0.473000 69 5 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10602036 10602036 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:10602036C>T uc010rcc.1 - 19 2847 c.2461G>A c.(2461-2463)Gaa>Aaa p.E821K MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Missense_Mutation_p.E813K|MRVI1_uc001miw.2_Missense_Mutation_p.E812K|MRVI1_uc001mix.3_Missense_Mutation_p.E506K|MRVI1_uc001miz.2_Missense_Mutation_p.E730K|MRVI1_uc010rcd.1_Missense_Mutation_p.E615K|MRVI1_uc009ygd.1_Missense_Mutation_p.E506K NM_130385 NP_569056 Q9Y6F6 MRVI1_HUMAN Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA. 794 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TCCTCAGTTTCTTCTACCTCT 0.458000 93 9 0 0 1 0 0 ARHGEF37 389337 broad.mit.edu 37 5 149001409 149001409 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:149001409G>A uc003lra.1 + 8 1183 c.1119G>A c.(1117-1119)cgG>cgA p.R373R NM_001001669 NP_001001669 A1IGU5 ARH37_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA. 373 BAR. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 ACTTTGAGCGGGTGGAAGAGA 0.612000 83 8 0 0 1 0 0 ALOXE3 59344 broad.mit.edu 37 17 8006774 8006774 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:8006774G>A uc002gka.3 - 13 2322 c.2291C>T c.(2290-2292)tCc>tTc p.S764F ALOXE3_uc010cnr.3_Missense_Mutation_p.S608F|ALOXE3_uc010vuo.2_Missense_Mutation_p.S740F NM_021628 NP_067641 Q9BYJ1 LOXE3_HUMAN Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA. 608 leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 CTGCCTCATGGATGATGGAGC 0.577000 39 9 0 0 1 0 0 PARP2 10038 broad.mit.edu 37 14 20824111 20824111 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:20824111C>T uc001vxc.3 + 10 1089 c.1061C>T c.(1060-1062)cCa>cTa p.P354L PARP2_uc001vxb.1_Missense_Mutation_p.P354L|PARP2_uc001vxd.3_Missense_Mutation_p.P341L|PARP2_uc010tle.2_Missense_Mutation_p.P104L NM_005484 NP_005475 Q9UGN5 PARP2_HUMAN Homo sapiens poly (ADP-ribose) polymerase 2 (PARP2), transcript variant 1, mRNA. 354 protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 15 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) CTACAAAGCCCAGAACACCCA 0.403000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 59 4 0 0 1 0 0 CHDH 55349 broad.mit.edu 37 3 53851900 53851900 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:53851900G>A uc003dgz.3 - 8 2130 c.1689C>T c.(1687-1689)atC>atT p.I563I NM_018397 NP_060867 Q8NE62 CHDH_HUMAN Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA. 563 alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 17 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) CCTTCTCTGCGATCATGATTG 0.587000 61 5 0 0 1 0 0 PLA2G6 8398 broad.mit.edu 37 22 38516859 38516859 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:38516859C>T uc003auy.1 - 11 1785 c.1649G>A c.(1648-1650)cGg>cAg p.R550Q PLA2G6_uc003auz.1_Missense_Mutation_p.R496Q|PLA2G6_uc003ava.1_Missense_Mutation_p.R550Q|PLA2G6_uc003avb.2_Missense_Mutation_p.R496Q|PLA2G6_uc010gxk.1_Non-coding_Transcript NM_003560 NP_003551 O60733 PA2G6_HUMAN Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA. 550 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) CCTGGAGCCCCGGAACACCTC 0.602000 131 7 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41552765 41552765 + Silent SNP G A A rs112451551 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:41552765G>A uc003xok.3 - 26 3129 c.3045C>T c.(3043-3045)tcC>tcT p.S1015S NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.S331S|ANK1_uc003xoi.3_Silent_p.S1015S|ANK1_uc003xoj.3_Silent_p.S1015S|ANK1_uc003xol.3_Silent_p.S1015S|ANK1_uc003xom.3_Silent_p.S1056S NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 1015 ZU5. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CCTTCCACACGGAGCCGTTTT 0.622000 112 19 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29121234 29121234 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:29121234G>A uc003adu.1 - 2 513 c.441C>T c.(439-441)ttC>ttT p.F147F CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Silent_p.F147F|CHEK2_uc003adt.1_Silent_p.F190F|CHEK2_uc003adv.1_Silent_p.F147F|CHEK2_uc003adx.1_5'UTR NM_007194 NP_009125 O96017 CHK2_HUMAN Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA. 147 FHA. DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 TACCTACCCTGAAAATCCGAA 0.373000 F breast Direct reversal of damage;Other conserved DNA damage response genes 87 4 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139341692 139341692 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:139341692G>A uc004chx.3 - 26 6993 c.6684C>T c.(6682-6684)ttC>ttT p.F2228F SEC16A_uc004chp.3_5'Flank|SEC16A_uc004chq.3_Silent_p.F69F|SEC16A_uc011mea.2_Silent_p.F69F|SEC16A_uc004chr.3_Silent_p.F234F|SEC16A_uc004chs.3_Silent_p.F68F|SEC16A_uc004cht.3_Silent_p.F259F|SEC16A_uc004chu.3_Silent_p.F413F|SEC16A_uc004chv.4_Silent_p.F1618F|SEC16A_uc004chw.3_Silent_p.F2228F|SEC16A_uc010nbn.3_Silent_p.F2228F NM_014866 NP_055681 O15027 SC16A_HUMAN Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA. 2050 protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GGGTTGGCACGAACAAGTTAG 0.597000 9 5 0 0 1 0 0 CENPK 64105 broad.mit.edu 37 5 64814356 64814356 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:64814356G>A uc003jts.3 - 10 968 c.756C>T c.(754-756)gcC>gcT p.A252A CENPK_uc003jtu.3_Silent_p.A252A NM_022145 NP_071428 Q9BS16 CENPK_HUMAN Homo sapiens centromere protein K (CENPK), mRNA. 252 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm breast(1)|endometrium(1)|large_intestine(3)|lung(5) 10 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00466) GATGTCTCAAGGCAATTCCAT 0.348000 37 5 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248039742 248039742 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:248039742C>T uc001ido.3 + 5 1460 c.1412C>T c.(1411-1413)tCc>tTc p.S471F OR2W3_uc001idp.1_Intron NM_015431 NP_056246 Q8NG06 TRI58_HUMAN Homo sapiens tripartite motif containing 58 (TRIM58), mRNA. 471 intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AATTGGGCATCCAGGGATCAT 0.463000 50 7 0 0 1 0 0 LARGE 9215 broad.mit.edu 37 22 33700229 33700229 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:33700229G>A uc003and.4 - 12 2295 c.1716C>T c.(1714-1716)ctC>ctT p.L572L LARGE_uc011amd.2_Silent_p.L371L|LARGE_uc003ane.4_Silent_p.L572L|LARGE_uc010gwp.3_Silent_p.L520L|LARGE_uc011ame.2_Silent_p.L504L|LARGE_uc011amf.2_Silent_p.L572L NM_004737 NP_598397 O95461 LARGE_HUMAN Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA. 572 N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) GGTACTCATAGAGCCCATACA 0.562000 60 5 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16670820 16670820 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:16670820G>A uc003jft.4 - 38 6166 c.5698C>T c.(5698-5700)Cgg>Tgg p.R1900W MYO10_uc011cnb.2_Missense_Mutation_p.R529W|MYO10_uc011cnc.2_Missense_Mutation_p.R779W|MYO10_uc011cnd.2_Missense_Mutation_p.R1257W|MYO10_uc011cne.2_Missense_Mutation_p.R1257W|MYO10_uc010itx.3_Missense_Mutation_p.R1522W NM_012334 NP_036466 Q9HD67 MYO10_HUMAN Homo sapiens myosin X (MYO10), mRNA. 1900 FERM. axon guidance|signal transduction myosin complex ATP binding|actin binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 ACCTTCTGCCGGACCACGGAT 0.562000 80 10 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106111664 106111664 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:106111664G>A uc004emo.3 + 17 2935 c.2770G>A c.(2770-2772)Gaa>Aaa p.E924K MORC4_uc004emp.4_Intron NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA. 924 intracellular Rab GTPase activator activity|calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AAAAGGAGATGAACTTTCCAA 0.343000 27 7 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200877860 200877860 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:200877860G>A uc001gvo.3 + 6 874 c.832G>A c.(832-834)Gaa>Aaa p.E278K C1orf106_uc010ppm.2_Missense_Mutation_p.E193K NM_018265 NP_001136041 Q3KP66 CA106_HUMAN Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA. 278 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 TCCTGCAGAGGAATCCCAAGT 0.607000 149 15 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1268568 1268568 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:1268568G>A uc001lta.3 + 30 10517 c.10458G>A c.(10456-10458)gaG>gaA p.E3486E NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 3486 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACATCACAGAGCCTTCCACGG 0.672000 82 5 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127796870 127796870 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:127796870C>T uc003qbd.3 - 5 3166 c.2301G>A c.(2299-2301)cgG>cgA p.R767R KIAA0408_uc003qbc.3_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA. 767 integral to membrane p.R767R(1) GGTGCGGAGGCCGCGAGTCGT 0.721000 59 5 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51173425 51173425 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:51173425G>A uc021tif.1 - 1 2739 c.2417C>T c.(2416-2418)tCc>tTc p.S806F SALL1_uc021tid.1_Missense_Mutation_p.S806F|SALL1_uc021tie.1_Missense_Mutation_p.S903F|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 903 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.M806I(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ACCCACTGAGGATGAATCATT 0.562000 45 4 0 0 1 0 0 TEKT2 27285 broad.mit.edu 37 1 36552306 36552306 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:36552306C>T uc001bzr.3 + 5 616 c.489_splice c.e5-1 p.C163_splice TEKT2_uc001bzs.3_Splice_Site_p.C69_splice|ADPRHL2_uc001bzt.3_5'Flank NM_014466 NP_055281 Q9UIF3 TEKT2_HUMAN Homo sapiens tektin 2 (testicular) (TEKT2), mRNA. 163 cell projection organization|microtubule cytoskeleton organization actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2) 13 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TTTCCCCAGCCTCTTGCAGGA 0.582000 79 5 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236906244 236906244 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:236906244G>A uc001hyf.2 + 10 1360 c.1156G>A c.(1156-1158)Gag>Aag p.E386K ACTN2_uc001hyg.2_Missense_Mutation_p.E178K|ACTN2_uc009xgi.1_Missense_Mutation_p.E386K|ACTN2_uc010pxu.1_Missense_Mutation_p.E75K NM_001103 NP_001094 P35609 ACTN2_HUMAN Homo sapiens actinin, alpha 2 (ACTN2), mRNA. 386 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GAAGGGTTACGAGGAGTGGTT 0.542000 65 6 0 0 1 0 0 FOXA2 3170 broad.mit.edu 37 20 22562578 22562578 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:22562578C>T uc002wsm.3 - 1 1487 c.1302G>A c.(1300-1302)acG>acA p.T434T FOXA2_uc002wsn.3_Silent_p.T428T NM_021784 NP_710141 Q9Y261 FOXA2_HUMAN Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA. 428 Transactivation domain 2 (By similarity). cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.T428T(1) breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22 Lung NSC(19;0.188) CCGTTTTGTTCGTGACCGGGC 0.607000 117 15 0 0 1 0 0 MMP7 4316 broad.mit.edu 37 11 102398260 102398260 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:102398260C>T uc001phb.3 - 2 526 c.479G>A c.(478-480)cGa>cAa p.R160Q MMP7_uc009yxd.3_Missense_Mutation_p.R160Q|MMP7_uc010rus.1_Missense_Mutation_p.R160Q NM_002423 NP_002414 P09237 MMP7_HUMAN Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA. 160 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R160Q(2)|p.A159G(1) large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) CTTACCTCCTCGCGCAAAGCC 0.408000 83 5 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22178048 22178048 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:22178048G>A uc009vqd.3 - 54 7192 c.7152C>T c.(7150-7152)gtC>gtT p.V2384V HSPG2_uc001bfj.3_Silent_p.V2383V NM_005529 NP_005520 P98160 PGBM_HUMAN Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA. 2383 Ig-like C2-type 9. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CCTGGTGCCGGACAGGGAGGC 0.662000 85 16 0 0 1 0 0 VARS 7407 broad.mit.edu 37 6 31746806 31746806 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31746806G>A uc003nxe.3 - 28 4087 c.3664C>T c.(3664-3666)Cgt>Tgt p.R1222C VWA7_uc011dog.2_5'Flank|VWA7_uc003nxd.2_5'Flank|VWA7_uc011doh.1_5'Flank|VARS_uc021yuy.1_Missense_Mutation_p.R159C NM_006295 NP_006286 P26640 SYVC_HUMAN Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA. 1222 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) GAGGCAGCACGGCGTTCCCGC 0.662000 194 32 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137727195 137727195 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:137727195C>T uc003lcy.1 + 7 2074 c.1874C>T c.(1873-1875)cCc>cTc p.P625L KDM3B_uc010jew.1_Missense_Mutation_p.P281L|KDM3B_uc011cys.1_Intron NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA. 625 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 TTTTTACAGCCCCCCAAATTG 0.498000 87 6 0 0 1 0 0 MTMR9 66036 broad.mit.edu 37 8 11157626 11157626 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:11157626C>T uc003wtm.3 + 2 784 c.386C>T c.(385-387)cCt>cTt p.P129L MTMR9_uc010lrx.3_Missense_Mutation_p.P22L|MTMR9_uc011kxa.2_Missense_Mutation_p.P44L NM_015458 NP_056273 Q96QG7 MTMR9_HUMAN Homo sapiens myotubularin related protein 9 (MTMR9), mRNA. 129 Myotubularin phosphatase. cytoplasm phosphatase activity|protein binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 16 STAD - Stomach adenocarcinoma(15;0.215) COAD - Colon adenocarcinoma(149;0.0678) TCCTTCCTTCCTGAGCAAGAA 0.408000 35 5 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52156447 52156447 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:52156447G>A uc001ryw.3 + 14 2709 c.2531G>A c.(2530-2532)cGa>cAa p.R844Q SCN8A_uc010snl.2_Missense_Mutation_p.R844Q|SCN8A_uc001ryy.2_Missense_Mutation_p.R709Q NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA. 844 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TCAGTGCTGCGATCTTTCCGA 0.363000 62 5 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228524704 228524704 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:228524704G>A uc009xez.1 + 65 16582 c.16538_splice c.e65-1 p.E5513_splice OBSCN_uc001hsn.3_Splice_Site_p.E5513_splice|OBSCN_uc001hsr.1_Splice_Site_p.E141_splice NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 5513 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGTATCCGCAGAAGAGCCTCT 0.622000 10 3 0 0 1 0 0 TIMM50 92609 broad.mit.edu 37 19 39978708 39978708 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:39978708C>T uc002olu.1 + 8 1146 c.1013C>T c.(1012-1014)tCa>tTa p.S338L TIMM50_uc002olt.1_Non-coding_Transcript|TIMM50_uc002olv.1_Missense_Mutation_p.S37L NM_001001563 NP_001001563 Q3ZCQ8 TIM50_HUMAN Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA. 235 mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck RNA binding|interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1) 14 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGGATATTTCATGTCTGAAT 0.522000 135 17 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40424151 40424151 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:40424151G>A uc002omp.4 - 3 2060 c.2052C>T c.(2050-2052)ttC>ttT p.F684F NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 684 VWFD 1. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGCAGACAGCGAAGGGGCCAT 0.642000 199 33 0 0 1 0 0 TTC27 55622 broad.mit.edu 37 2 33007724 33007724 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:33007724C>T uc002rom.3 + 14 2084 c.1811C>T c.(1810-1812)tCc>tTc p.S604F TTC27_uc010ymx.2_Missense_Mutation_p.S554F NM_017735 NP_001180438 Q6P3X3 TTC27_HUMAN Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA. 604 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 TTGTCAACTTCCTATATCCGA 0.294000 25 11 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 605145 605145 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:605145C>T uc001lqe.3 + 10 1310 c.1179C>T c.(1177-1179)atC>atT p.I393I PHRF1_uc010qwc.2_Silent_p.I393I|PHRF1_uc010qwd.2_Silent_p.I392I|PHRF1_uc010qwe.2_Silent_p.I389I|PHRF1_uc009ybz.1_Silent_p.I184I|PHRF1_uc009yca.2_5'Flank NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA. 393 Arg-rich. RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 GCTCTCGAATCGCGCGGACGC 0.567000 26 5 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30934614 30934614 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:30934614G>A uc002nsu.1 + 1 283 c.145G>A c.(145-147)Gag>Aag p.E49K ZNF536_uc010edd.1_Missense_Mutation_p.E49K NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 49 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.E49K(2) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TGCCTTCCCCGAGCTCCATCC 0.667000 63 6 0 0 1 0 0 TAS2R40 259286 broad.mit.edu 37 7 142919645 142919645 + Silent SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:142919645T>C uc011ksx.2 + 0 474 c.474T>C c.(472-474)ttT>ttC p.F158F NM_176882 NP_795363 P59535 T2R40_HUMAN Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA. 158 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 Melanoma(164;0.059) GCTTCAGCTTTCCTCTCTCGA 0.448000 44 13 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13056459 13056459 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:13056459C>T uc010xac.2 + 18 3950 c.3870C>T c.(3868-3870)ttC>ttT p.F1290F CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Silent_p.F815F|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_Silent_p.F1031F NM_032142 NP_115518 B7ZMF0 B7ZMF0_HUMAN Homo sapiens centrosomal protein 192kDa (CEP192), mRNA. 885 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TCTGTGGCTTCTCAGGAGGCC 0.547000 30 7 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167023635 167023635 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:167023635C>T uc011bpc.2 - 16 1858 c.1521G>A c.(1519-1521)aaG>aaA p.K507K ZBBX_uc003feq.3_Silent_p.K478K|ZBBX_uc003fep.3_Silent_p.K507K NM_001199201 NP_001186130 A8MT70 ZBBX_HUMAN Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA. 507 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TATTTTTCTCCTTTAAATTTC 0.338000 17 3 0 0 1 0 0 GCAT 23464 broad.mit.edu 37 22 38211243 38211243 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:38211243C>T uc003aua.2 + 4 828 c.765C>T c.(763-765)ttC>ttT p.F255F GCAT_uc003atz.3_Silent_p.F229F NM_001171690 NP_001165161 O75600 KBL_HUMAN Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 229 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 12 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CCCTGGTCTTCATGGATGAAT 0.627000 36 5 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152466492 152466492 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:152466492C>T uc021vrb.1 - 75 11461 c.11432G>A c.(11431-11433)tGg>tAg p.W3811* NEB_uc002txu.3_Nonsense_Mutation_p.W4054*|NEB_uc021vrc.1_Nonsense_Mutation_p.W4054*|NEB_uc010fnx.3_Nonsense_Mutation_p.W3799*|NEB_uc021vrd.1_Nonsense_Mutation_p.W3811* NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 3811 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CTTGGTTTTCCACTTTTGGAA 0.418000 24 4 0 0 1 0 0 TMEM184A 202915 broad.mit.edu 37 7 1595055 1595055 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:1595055C>T uc003skv.4 - 1 383 c.66G>A c.(64-66)caG>caA p.Q22Q TMEM184A_uc021zyr.1_5'UTR NM_001097620 NP_001091089 Q6ZMB5 T184A_HUMAN Homo sapiens transmembrane protein 184A (TMEM184A), mRNA. 22 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GGGGGCTGGGCTGCGGCCAGT 0.682000 93 18 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21234519 21234519 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:21234519C>T uc002red.3 - 25 5349 c.5221G>A c.(5221-5223)Gac>Aac p.D1741N NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1741 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCCATCATGTCATTTGAGAGC 0.408000 525 34 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62456008 62456008 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:62456008G>A uc001dab.3 + 27 3953 c.3839G>A c.(3838-3840)cGa>cAa p.R1280Q INADL_uc009waf.1_Missense_Mutation_p.R1280Q|INADL_uc001daa.2_Missense_Mutation_p.R1280Q|INADL_uc001dad.3_Missense_Mutation_p.R977Q|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.R64Q|INADL_uc009wag.3_Missense_Mutation_p.R64Q|INADL_uc010oou.1_5'UTR NM_176877 NP_795352 Q8NI35 INADL_HUMAN Homo sapiens InaD-like (Drosophila) (INADL), mRNA. 1280 PDZ 7. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GCAGATGGACGAATGCGTATT 0.453000 10 4 0 0 1 0 0 PFKFB3 5209 broad.mit.edu 37 10 6258674 6258674 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:6258674C>T uc001ije.3 + 4 756 c.372C>T c.(370-372)ttC>ttT p.F124F PFKFB3_uc001ijd.3_Silent_p.F104F|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc010qaw.2_Silent_p.F138F|PFKFB3_uc001ijf.3_Silent_p.F124F NM_004566 NP_004557 Q16875 F263_HUMAN Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA. 124 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 ATCAGGTTTTCGATGCCACCA 0.438000 169 43 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77775626 77775626 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:77775626C>T uc003yau.2 + 10 10063 c.9676C>T c.(9676-9678)Ctt>Ttt p.L3226F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 3177 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTCATCTGCTCTTTCAGTGTT 0.423000 HNSCC(33;0.089) 27 5 0 0 1 0 0 MYLK3 91807 broad.mit.edu 37 16 46781980 46781980 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:46781980G>A uc002eei.4 - 0 242 c.126C>T c.(124-126)ttC>ttT p.F42F MYLK3_uc010vge.2_Intron NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA. 42 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CATCTTCTTGGAAGTGCAGGA 0.622000 96 6 0 0 1 0 0 PYGM 5837 broad.mit.edu 37 11 64518906 64518906 + Silent SNP G A A rs148177970 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:64518906G>A uc001oax.4 - 15 2677 c.1860C>T c.(1858-1860)atC>atT p.I620I PYGM_uc001oay.4_Silent_p.I532I NM_005609 NP_005600 P11217 PYGM_HUMAN Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA. 620 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) CGAGTCTGATGATCATCTTGG 0.602000 66 13 0 0 1 0 0 SLC25A31 83447 broad.mit.edu 37 4 128651718 128651718 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:128651718G>A uc003ifl.3 + 0 164 c.18G>A c.(16-18)gcG>gcA p.A6A NM_031291 NP_112581 Q9H0C2 ADT4_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA. 6 transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2) 22 GTGAGCCTGCGAAAAAGAAGG 0.552000 50 8 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175362946 175362946 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:175362946G>A uc001gkp.1 - 3 1407 c.1326C>T c.(1324-1326)ttC>ttT p.F442F TNR_uc009wwu.1_Silent_p.F442F|TNR_uc010pmz.1_3'UTR NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 442 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CCCACCCATCGAAGGAAAATG 0.463000 143 25 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59195323 59195323 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:59195323G>A uc010dps.1 + 5 1293 c.1141G>A c.(1141-1143)Gaa>Aaa p.E381K CDH20_uc002lif.2_Missense_Mutation_p.E375K NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN Homo sapiens cadherin 20, type 2 (CDH20), mRNA. 381 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) CATCAGTGTGGAAGACGTGGA 0.498000 46 7 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47249068 47249068 + Silent SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:47249068G>T uc002xtw.1 - 33 4400 c.4377C>A c.(4375-4377)gcC>gcA p.A1459A PREX1_uc002xtv.1_Silent_p.A756A NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA. 1459 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCCTCAGGCTGGCCCCACCCT 0.652000 40 11 3.07112e-06 3.10917e-06 1 1 0 OR1I1 126370 broad.mit.edu 37 19 15197948 15197948 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:15197948G>A uc010xoe.2 + 0 72 c.72G>A c.(70-72)caG>caA p.Q24Q NM_001004713 NP_001004713 O60431 OR1I1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA. 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2) 20 CAGAGCATCAGACCCTCCTCT 0.478000 47 12 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175331899 175331899 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:175331899G>A uc001gkp.1 - 11 2835 c.2754C>T c.(2752-2754)ttC>ttT p.F918F TNR_uc009wwu.1_Silent_p.F918F NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 918 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TGGTGATGGTGAATTCTGTCA 0.517000 24 11 0 0 1 0 0 WDR88 126248 broad.mit.edu 37 19 33638591 33638591 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:33638591G>A uc002nui.3 + 3 595 c.517G>A c.(517-519)Gac>Aac p.D173N NM_173479 NP_775750 Q6ZMY6 WDR88_HUMAN Homo sapiens WD repeat domain 88 (WDR88), mRNA. 173 breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) GAGGGCCTGGGACCTGGAGAC 0.537000 41 5 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147000285 147000285 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:147000285C>T uc010jgo.1 - 16 2234 c.2086G>A c.(2086-2088)Ggc>Agc p.G696S JAKMIP2_uc003loq.1_Missense_Mutation_p.G696S|JAKMIP2_uc011dbx.1_Missense_Mutation_p.G654S|JAKMIP2_uc003lor.1_Missense_Mutation_p.G675S|LOC153469_uc003lop.1_Intron NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA. 696 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCAGATAGCCTTTTATTTTG 0.373000 29 9 0 0 1 0 0 AMIGO1 57463 broad.mit.edu 37 1 110050539 110050539 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:110050539C>T uc021org.1 - 0 996 c.996G>A c.(994-996)caG>caA p.Q332Q AMIGO1_uc001dxx.4_Silent_p.Q332Q NM_020703 NP_065754 Q86WK6 AMGO1_HUMAN Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA. 332 Ig-like C2-type. axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) CGTCCTCGACCTGCACCTGCT 0.502000 101 6 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228505323 228505323 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:228505323G>A uc009xez.1 + 51 13764 c.13720G>A c.(13720-13722)Gag>Aag p.E4574K OBSCN_uc001hsn.3_Missense_Mutation_p.E4574K NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 4574 Fibronectin type-III 3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCTGTGCCACGAGCTGGTGCC 0.682000 31 5 0 0 1 0 0 PRIC285 85441 broad.mit.edu 37 20 62191963 62191963 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:62191963G>A uc002yfm.2 - 16 8261 c.7369C>T c.(7369-7371)Ctg>Ttg p.L2457L PRIC285_uc002yfl.1_Silent_p.L1888L NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA. 2457 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2) 47 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) GCGTGGCCCAGGACACTGGGC 0.632000 76 14 0 0 1 0 0 KRT36 8689 broad.mit.edu 37 17 39643659 39643659 + Missense_Mutation SNP C T T rs145372311 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39643659C>T uc002hwt.3 - 4 931 c.931G>A c.(931-933)Gag>Aag p.E311K NM_003771 NP_003762 O76013 KRT36_HUMAN Homo sapiens keratin 36 (KRT36), mRNA. 311 Coil 2.|Rod. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) CGTCTCAGCTCGATGATCTCC 0.627000 26 12 0 0 1 0 0 ZNF606 80095 broad.mit.edu 37 19 58489928 58489928 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:58489928G>A uc002qqw.3 - 6 2738 c.2120C>T c.(2119-2121)cCa>cTa p.P707L ZNF606_uc010yhp.2_Missense_Mutation_p.P617L NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN Homo sapiens zinc finger protein 606 (ZNF606), mRNA. 707 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) ACACCTGTATGGTTTCTCTCC 0.393000 47 5 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685857 125685857 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:125685857G>A uc022cds.1 - 0 735 c.735C>T c.(733-735)atC>atT p.I245I DCAF12L1_uc004eul.3_Silent_p.I245I NM_178470 NP_848565 Q5VU92 DC121_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA. 245 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CCCTCGGACGGATGTGGGCAT 0.652000 34 7 0 0 1 0 0 SUGP1 57794 broad.mit.edu 37 19 19387761 19387762 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:19387761_19387762GG>AA uc002nmh.3 - 12 1921_1922 c.1905_1906CC>TT c.(1903-1908)aacccc>aaTTcc p.P636S SUGP1_uc002nmf.3_Missense_Mutation_p.P186S|SUGP1_uc002nmg.3_Missense_Mutation_p.P186S|SUGP1_uc002nmi.3_Missense_Mutation_p.P426S|SUGP1_uc002nmj.3_Missense_Mutation_p.P426S|SUGP1_uc002nme.3_Missense_Mutation_p.P186S NM_172231 NP_757386 Q8IWZ8 SUGP1_HUMAN Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA. 636 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 CGTACCAGGGGGTTGGGCCGGA 0.629000 87 6 0 0 1 0 0 FAM123C 205147 broad.mit.edu 37 2 131520826 131520826 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:131520826G>A uc021voy.1 + 0 1181 c.1181G>A c.(1180-1182)gGa>gAa p.G394E FAM123C_uc002trw.2_Missense_Mutation_p.G394E|FAM123C_uc010fmv.2_Missense_Mutation_p.G394E|FAM123C_uc010fms.1_Missense_Mutation_p.G394E|FAM123C_uc010fmt.1_Missense_Mutation_p.G394E|FAM123C_uc010fmu.1_Missense_Mutation_p.G394E NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 394 breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) TTCTCGCCAGGACTTGAGGAG 0.612000 55 4 0 0 1 0 0 DDX56 54606 broad.mit.edu 37 7 44612258 44612258 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:44612258G>A uc003tlg.3 - 3 1112 c.469C>T c.(469-471)Cgt>Tgt p.R157C DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Missense_Mutation_p.R157C|DDX56_uc010kyh.1_Non-coding_Transcript NM_019082 NP_061955 Q9NY93 DDX56_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA. 157 Helicase ATP-binding. rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|RNA binding|identical protein binding p.R157C(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1) 16 AGGGAGTCACGAAGTTTCAGG 0.517000 104 12 0 0 1 0 0 HIATL1 84641 broad.mit.edu 37 9 97221461 97221461 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:97221461C>T uc004aur.3 + 11 1557 c.1288C>T c.(1288-1290)Ccg>Tcg p.P430S HIATL1_uc011luh.2_3'UTR NM_032558 NP_115947 Q5SR56 HIAL1_HUMAN Homo sapiens hippocampus abundant transcript-like 1 (HIATL1), mRNA. 430 transmembrane transport integral to membrane|plasma membrane protein binding|transporter activity p.P430Q(1) endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 11 Acute lymphoblastic leukemia(62;0.136) CATCCCAGGCCCGCCGTTTTT 0.388000 47 4 0 0 1 0 0 IL36A 27179 broad.mit.edu 37 2 113763579 113763579 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:113763579G>A uc010yxr.2 + 1 39 c.39G>A c.(37-39)ggG>ggA p.G13G NM_014440 NP_055255 Q9UHA7 IL36A_HUMAN Homo sapiens interleukin 36, alpha (IL36A), mRNA. 13 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding p.Q12*(1) large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2) 9 CTCAGCAGGGGAGCATTCAGG 0.468000 56 6 0 0 1 0 0 MEP1A 4224 broad.mit.edu 37 6 46787280 46787280 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:46787280T>C uc011dwh.1 + 5 487 c.479T>C c.(478-480)gTt>gCt p.V160A MEP1A_uc010jzh.1_Missense_Mutation_p.V132A|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_Missense_Mutation_p.V32A NM_005588 NP_005579 Q16819 MEP1A_HUMAN Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA. 132 Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) TGGTCTGAGGTTGGTGACCAA 0.428000 6 7 0 0 1 0 0 PLS1 5357 broad.mit.edu 37 3 142405169 142405169 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:142405169A>G uc010huv.3 + 8 1091 c.932A>G c.(931-933)aAa>aGa p.K311R PLS1_uc003euz.3_Missense_Mutation_p.K311R|PLS1_uc003eva.3_Missense_Mutation_p.K311R NM_001145319 NP_002661 Q14651 PLSI_HUMAN Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA. 311 Actin-binding 1.|CH 2. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 27 ATTGCCCCTAAAGGTGGGGAA 0.343000 47 3 0 0 1 0 0 C8orf80 389643 broad.mit.edu 37 8 27922053 27922053 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:27922053C>T uc003xgm.4 - 6 1050 c.907G>A c.(907-909)Gag>Aag p.E303K NM_001010906 NP_001010906 Q68CJ6 SLIP_HUMAN Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA. 303 nucleus GTP binding|GTPase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1) 35 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181) TTCCACATCTCGTCCCTCTTG 0.493000 35 4 0 0 1 0 0 RAB11FIP3 9727 broad.mit.edu 37 16 570755 570755 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:570755G>A uc002chf.3 + 13 2526 c.2187G>A c.(2185-2187)gaG>gaA p.E729E RAB11FIP3_uc010uuf.2_Silent_p.E433E|RAB11FIP3_uc010uug.2_Silent_p.E464E NM_014700 NP_055515 O75154 RFIP3_HUMAN Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA. 729 FIP-RBD. cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1) 12 Hepatocellular(16;0.0218) AGCAGGAGGAGATCAACTTCC 0.587000 40 5 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236767259 236767259 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:236767259G>A uc001hyd.2 - 1 289 c.137C>T c.(136-138)gCc>gTc p.A46V HEATR1_uc001hye.2_Missense_Mutation_p.A46V NM_018072 NP_060542 Q9H583 HEAT1_HUMAN Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA. 46 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CTCACCAATGGCGAAGGCGGT 0.443000 39 7 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185169095 185169095 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:185169095G>A uc010hyf.3 + 7 1481 c.1190G>A c.(1189-1191)cGa>cAa p.R397Q MAP3K13_uc011brt.2_Missense_Mutation_p.R190Q|MAP3K13_uc003fph.4_Missense_Mutation_p.R165Q|MAP3K13_uc011bru.2_Missense_Mutation_p.R253Q|MAP3K13_uc003fpi.3_Missense_Mutation_p.R397Q|MAP3K13_uc010hyg.3_Missense_Mutation_p.R87Q NM_001242314 NP_001229243 O43283 M3K13_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA. 397 Protein kinase. JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding p.R397*(1) NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) CCTCGAAACCGACCTTCTTTT 0.398000 44 9 0 0 1 0 0 MUL1 79594 broad.mit.edu 37 1 20827452 20827452 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:20827452G>A uc001bdi.4 - 3 947 c.790C>T c.(790-792)Ctg>Ttg p.L264L NM_024544 NP_078820 Q969V5 MUL1_HUMAN Homo sapiens mitochondrial E3 ubiquitin protein ligase 1 (MUL1), nuclear gene encoding mitochondrial protein, mRNA. 264 activation of JUN kinase activity|activation of caspase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to mitochondrial outer membrane|nucleus|peroxisome identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(5) 11 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) TGCCGCTGCAGATACTGCTTC 0.617000 56 13 0 0 1 0 0 DHX37 57647 broad.mit.edu 37 12 125441662 125441663 + Nonsense_Mutation DNP GG TA TA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:125441662_125441663GG>TA uc001ugy.3 - 16 2275_2276 c.2176_2177CC>TA c.(2176-2178)ccg>TAg p.P726* NM_032656 NP_116045 Q8IY37 DHX37_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA. 726 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.P726L(2) breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) GGGGGGCGTCGGGAAGGGGAAG 0.619000 70 7 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73738802 73738802 + Silent SNP C T T rs139130590 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:73738802C>T uc002jpg.3 + 24 3109 c.2922C>T c.(2920-2922)ctC>ctT p.L974L ITGB4_uc002jph.3_Silent_p.L974L|ITGB4_uc002jpi.4_Silent_p.L974L|ITGB4_uc010dgp.1_3'UTR|ITGB4_uc002jpj.3_Silent_p.L974L NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 974 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity p.L974L(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CTGCCACCCTCGGCCGCCGCC 0.657000 46 5 0 0 1 0 0 RFTN1 23180 broad.mit.edu 37 3 16358425 16358425 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:16358425C>T uc003cay.3 - 9 1929 c.1647G>A c.(1645-1647)ggG>ggA p.G549G RFTN1_uc010hes.3_Silent_p.G513G|OXNAD1_uc003cax.3_Intron|OXNAD1_uc011awb.2_Intron NM_015150 NP_055965 Q14699 RFTN1_HUMAN Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA. 549 plasma membrane central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 CAGTGCAAATCCCCACCAGGG 0.607000 122 12 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390814 197390814 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:197390814G>A uc001gtz.3 + 5 2065 c.1856G>A c.(1855-1857)gGa>gAa p.G619E CRB1_uc010poz.2_Missense_Mutation_p.G550E|CRB1_uc009wza.3_Missense_Mutation_p.G507E|CRB1_uc010ppa.2_Intron|CRB1_uc010ppb.2_Missense_Mutation_p.G619E|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.G100E|CRB1_uc001gub.1_Missense_Mutation_p.G268E NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 619 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TTACCAGTGGGAATGACCAGC 0.418000 57 6 0 0 1 0 0 P2RY1 5028 broad.mit.edu 37 3 152554533 152554533 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:152554533C>T uc003ezq.3 + 0 1798 c.962C>T c.(961-963)cCc>cTc p.P321L NM_002563 NP_002554 P47900 P2RY1_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 1 (P2RY1), mRNA. 321 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) TGTGTGGACCCCATTCTCTAT 0.463000 69 5 0 0 1 0 0 IL31RA 133396 broad.mit.edu 37 5 55212579 55212579 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:55212579G>A uc003jql.3 + 14 2118 c.1926G>A c.(1924-1926)gtG>gtA p.V642V IL31RA_uc003jqm.3_Silent_p.V623V|IL31RA_uc003jqn.3_Silent_p.V642V|IL31RA_uc021xyq.1_Silent_p.V623V|IL31RA_uc003jqo.3_Silent_p.V500V NM_139017 NP_001229568 Q8NI17 IL31R_HUMAN Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA. 610 JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) AGTTGGTGGTGAACTTTGGGA 0.448000 45 4 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154561131 154561131 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:154561131G>A uc003wlk.3 + 8 1017 c.888G>A c.(886-888)gaG>gaA p.E296E DPP6_uc003wli.3_Silent_p.E232E|DPP6_uc003wlm.3_Silent_p.E234E|DPP6_uc011kvq.2_Silent_p.E189E NM_130797 NP_570629 P42658 DPP6_HUMAN Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA. 296 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CCTTAGAGGAGATTTTGAAGA 0.507000 54 4 0 0 1 0 0 CETP 1071 broad.mit.edu 37 16 57003406 57003406 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:57003406G>A uc002eki.2 + 2 399 c.342G>A c.(340-342)ctG>ctA p.L114L CETP_uc002ekj.2_Silent_p.L114L NM_000078 NP_000069 P11597 CETP_HUMAN Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA. 114 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3) 23 AGGGGACCCTGAAGTATGGCT 0.582000 111 8 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123964007 123964007 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:123964007C>T uc022bag.1 + 0 257 c.257C>T c.(256-258)tCc>tTc p.S86F ZHX2_uc003ypk.1_Missense_Mutation_p.S86F NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA. 86 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) TGCCCCTACTCCACGCAAAAC 0.473000 55 5 0 0 1 0 0 MTNR1B 4544 broad.mit.edu 37 11 92714791 92714791 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:92714791C>T uc001pdk.1 + 1 505 c.402C>T c.(400-402)atC>atT p.I134I NM_005959 NP_005950 P49286 MTR1B_HUMAN Homo sapiens melatonin receptor 1B (MTNR1B), mRNA. 134 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) TCACTGCCATCGCCATTAACC 0.592000 268 24 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63112759 63112759 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:63112759G>A uc002alb.4 + 50 6952 c.6952G>A c.(6952-6954)Gaa>Aaa p.E2318K TLN2_uc002alc.4_Missense_Mutation_p.E711K|TLN2_uc010uic.2_5'UTR NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN Homo sapiens talin 2 (TLN2), mRNA. 2318 I/LWEQ. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 AGCATCCATCGAAGCTGCTGC 0.468000 49 4 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17025287 17025287 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:17025287G>A uc002nfb.3 - 28 3981 c.3949C>T c.(3949-3951)Ccg>Tcg p.P1317S NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 1270 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GCTGTCAGCGGGACAGTGCCG 0.632000 33 7 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42489220 42489220 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:42489220G>A uc002osh.3 - 7 997 c.843C>T c.(841-843)ttC>ttT p.F281F ATP1A3_uc010xwf.2_Silent_p.F292F|ATP1A3_uc010xwg.2_Silent_p.F251F|ATP1A3_uc002osg.3_Silent_p.F281F|ATP1A3_uc010xwh.2_Silent_p.F294F P13637 AT1A3_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA. 281 ATP biosynthetic process Golgi apparatus|endoplasmic reticulum ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 TGAGCTGGATGAAGTGCTCAA 0.602000 19 6 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3640520 3640520 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:3640520G>A uc002cvp.2 - 11 3746 c.3119C>T c.(3118-3120)cCc>cTc p.P1040L NM_032444 NP_115820 Q8IY92 SLX4_HUMAN Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA. 1040 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CCCGCCCTGGGGAGGCCCCAA 0.667000 Direct reversal of damage 120 9 0 0 1 0 0 MIOS 54468 broad.mit.edu 37 7 7612821 7612821 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:7612821C>T uc003srf.3 + 3 1023 c.715C>T c.(715-717)Cgt>Tgt p.R239C MIOS_uc010ktp.1_Missense_Mutation_p.R239C NM_019005 NP_061878 Q9NXC5 MIO_HUMAN Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA. 239 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TTTCCACGATCGTGTTGCTTC 0.398000 46 12 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716487 13716487 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:13716487C>T uc001rbt.2 - 12 3864 c.3685G>A c.(3685-3687)Gtg>Atg p.V1229M NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 1229 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGACCCGTCACCGTCGTGGAG 0.602000 55 5 0 0 1 0 0 EXOC6 54536 broad.mit.edu 37 10 94733976 94733976 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:94733976T>G uc010qnr.2 + 18 2131 c.1988T>G c.(1987-1989)tTt>tGt p.F663C EXOC6_uc001kie.3_Missense_Mutation_p.F642C|EXOC6_uc001kig.3_Missense_Mutation_p.F647C|EXOC6_uc009xub.3_Missense_Mutation_p.F646C|EXOC6_uc009xuc.3_Missense_Mutation_p.F544C|EXOC6_uc001kih.3_Non-coding_Transcript|EXOC6_uc001kii.3_Missense_Mutation_p.F221C NM_001013848 NP_001013870 Q8TAG9 EXOC6_HUMAN Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA. 647 protein transport|vesicle docking involved in exocytosis exocyst cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 26 Colorectal(252;0.123) TTTCAAGTGTTTACTCATTTG 0.313000 236 19 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60688944 60688944 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:60688944G>A uc002sae.1 - 3 1331 c.1103C>T c.(1102-1104)cCt>cTt p.P368L BCL11A_uc002sab.3_Missense_Mutation_p.P368L|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.P334L|BCL11A_uc002sad.1_Missense_Mutation_p.P216L|BCL11A_uc002saf.1_Missense_Mutation_p.P334L NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 368 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CTGGGAGGGAGGAGGGGCGGA 0.642000 T IGH@ B-CLL 540 33 0 0 1 0 0 TMEM48 55706 broad.mit.edu 37 1 54258908 54258908 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:54258908G>A uc001cvs.3 - 13 1920 c.1629C>T c.(1627-1629)ttC>ttT p.F543F TMEM48_uc010onu.2_Silent_p.F503F|TMEM48_uc001cvt.3_Silent_p.F420F|TMEM48_uc009vzk.3_Intron|TMEM48_uc010onv.2_Silent_p.F208F NM_018087 NP_060557 Q9BTX1 NDC1_HUMAN Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA. 543 mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 18 TTACCTTACTGAAAAAATACA 0.303000 87 31 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37922621 37922621 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:37922621C>T uc002hsu.3 - 7 1014 c.952G>A c.(952-954)Gaa>Aaa p.E318K IKZF3_uc002htd.3_Missense_Mutation_p.E284K|IKZF3_uc010cwd.3_Missense_Mutation_p.E175K|IKZF3_uc002hsv.3_Missense_Mutation_p.E245K|IKZF3_uc010cwe.3_Missense_Mutation_p.E184K|IKZF3_uc010cwf.3_Missense_Mutation_p.E136K|IKZF3_uc010cwg.3_Missense_Mutation_p.E97K|IKZF3_uc002hsw.3_Missense_Mutation_p.E279K|IKZF3_uc002hsx.3_Missense_Mutation_p.E262K|IKZF3_uc002hsy.3_Missense_Mutation_p.E279K|IKZF3_uc002hsz.3_Missense_Mutation_p.E223K|IKZF3_uc002hta.3_Missense_Mutation_p.E240K|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.E231K|IKZF3_uc002htc.3_Missense_Mutation_p.E71K|IKZF3_uc010wel.2_Missense_Mutation_p.E71K NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA. 318 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CGCAGGGCTTCGGCGCCAAGA 0.532000 59 8 0 0 1 0 0 SLC39A11 201266 broad.mit.edu 37 17 70845857 70845857 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:70845857G>A uc002jjb.3 - 5 653 c.538C>T c.(538-540)Cga>Tga p.R180* SLC39A11_uc002jja.3_Nonsense_Mutation_p.R173* NM_001159770 NP_001153242 Q8N1S5 S39AB_HUMAN Homo sapiens solute carrier family 39 (metal ion transporter), member 11 (SLC39A11), transcript variant 1, mRNA. 180 zinc ion transport integral to membrane metal ion transmembrane transporter activity p.G180V(1) endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 AGATTCCCTCGAGAAGGCACA 0.562000 71 9 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129902429 129902429 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:129902429G>A uc001lke.3 - 12 7870 c.7675C>T c.(7675-7677)Ctg>Ttg p.L2559L MKI67_uc001lkf.3_Silent_p.L2199L|MKI67_uc009yav.1_Silent_p.L2134L|MKI67_uc009yaw.1_Silent_p.L1709L NM_002417 NP_002408 P46013 KI67_HUMAN Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA. 2559 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) AAGTCAACCAGGTCTTCTAGA 0.488000 74 7 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139281519 139281519 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:139281519G>A uc003vvf.4 - 11 2932 c.2661C>T c.(2659-2661)gtC>gtT p.V887V HIPK2_uc003vvd.4_Silent_p.V860V NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA. 887 Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with TP53 and TP73.|Interaction with UBE2I (By similarity).|Required for localization to nuclear speckles (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction PML body|centrosome|nuclear membrane ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) TGATGGTGATGACGCTGACCG 0.652000 104 31 0 0 1 0 0 TIMP2 7077 broad.mit.edu 37 17 76867038 76867039 + Missense_Mutation DNP GG AA AA rs138408968 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:76867038_76867039GG>AA uc002jwf.3 - 2 583_584 c.281_282CC>TT c.(280-282)tcc>tTT p.S94F TIMP2_uc002jwe.3_Missense_Mutation_p.S17F|TIMP2_uc010wty.2_Missense_Mutation_p.S17F NM_003255 NP_003246 P16035 TIMP2_HUMAN Homo sapiens TIMP metallopeptidase inhibitor 2 (TIMP2), mRNA. 94 NTR. metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194) ACACTGCCGAGGAGGGGGCCGT 0.545000 127 17 0 0 1 0 0 MLH1 4292 broad.mit.edu 37 3 37061859 37061859 + Missense_Mutation SNP C T T rs151119913 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:37061859C>T uc003cgl.3 + 10 1141 c.943C>T c.(943-945)Cac>Tac p.H315Y MLH1_uc011aye.2_Missense_Mutation_p.H74Y|MLH1_uc011ayb.2_Missense_Mutation_p.H74Y|MLH1_uc010hge.3_Missense_Mutation_p.H315Y|MLH1_uc011ayc.2_Missense_Mutation_p.H217Y|MLH1_uc011ayd.2_Missense_Mutation_p.H74Y|MLH1_uc003cgo.3_Missense_Mutation_p.H74Y|MLH1_uc003cgn.4_Missense_Mutation_p.H74Y|MLH1_uc010hgg.1_5'UTR|MLH1_uc010hgh.1_5'UTR|MLH1_uc010hgi.1_Intron|MLH1_uc010hgj.1_Intron|MLH1_uc010hgk.3_Intron|MLH1_uc010hgl.1_Silent_p.F13F NM_000249 NP_001161091 P40692 MLH1_HUMAN Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA. 315 mismatch repair|somatic hypermutation of immunoglobulin genes MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 GCATGAAGTTCACTTCCTGCA 0.498000 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 43 5 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94088193 94088193 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:94088193C>T uc001ybv.1 + 27 4232 c.4149C>T c.(4147-4149)atC>atT p.I1383I UNC79_uc001ybs.1_Silent_p.I1361I NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 1538 integral to membrane p.L1382L(1) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CTGCGTATATCGCACAAAGAC 0.498000 49 7 0 0 1 0 0 RUNX3 864 broad.mit.edu 37 1 25229042 25229042 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:25229042G>A uc009vrj.3 - 6 1107 c.861C>T c.(859-861)gcC>gcT p.A287A RUNX3_uc001bjq.3_Silent_p.A273A|RUNX3_uc010oen.2_Silent_p.A220A|RUNX3_uc001bjr.3_Silent_p.A287A|RUNX3_uc001bjs.3_Non-coding_Transcript NM_001031680 NP_001026850 Q13761 RUNX3_HUMAN Homo sapiens runt-related transcription factor 3 (RUNX3), transcript variant 1, mRNA. 273 Pro/Ser/Thr-rich. cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136) CAGCTGACATGGCCCCGGGAT 0.672000 128 24 0 0 1 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24955154 24955154 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:24955154G>A uc002dnb.3 - 14 1364 c.1271C>T c.(1270-1272)tCc>tTc p.S424F ARHGAP17_uc002dna.3_Missense_Mutation_p.S151F|ARHGAP17_uc002dnc.3_Missense_Mutation_p.S424F|ARHGAP17_uc010vcf.2_Missense_Mutation_p.S245F NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA. 424 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) CACATGGACGGATGTGGCTGC 0.448000 70 5 0 0 1 0 0 TMPRSS11E 28983 broad.mit.edu 37 4 69362374 69362374 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:69362374G>A uc003hdz.4 + 9 1188 c.1124G>A c.(1123-1125)gGa>gAa p.G375E NM_014058 NP_054777 Q9UL52 TM11E_HUMAN Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA. 375 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 GACTCTGGAGGACCACTGGTT 0.393000 156 12 0 0 1 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45899670 45899670 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:45899670G>A uc002pbn.3 - 4 814 c.737C>T c.(736-738)cCt>cTt p.P246L PPP1R13L_uc002pbo.3_Missense_Mutation_p.P246L|PPP1R13L_uc002pbp.2_Missense_Mutation_p.P246L NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA. 246 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) GGCTTTCGGAGGCCGCCGGCG 0.657000 66 12 0 0 1 0 0 EMILIN3 90187 broad.mit.edu 37 20 39990462 39990462 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:39990462C>T uc002xjy.1 - 3 1971 c.1747G>A c.(1747-1749)Gag>Aag p.E583K NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA. 583 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) AGAGTGATCTCGCCTTGAAGT 0.592000 109 14 0 0 1 0 0 SIRT3 23410 broad.mit.edu 37 11 233185 233185 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:233185G>A uc001lok.4 - 2 538 c.504C>T c.(502-504)ctC>ctT p.L168L SIRT3_uc001loj.4_Silent_p.L26L|SIRT3_uc010qvm.2_Silent_p.L104L|SIRT3_uc010qvn.2_Silent_p.L87L|SIRT3_uc010qvo.2_Silent_p.L168L|SIRT3_uc010qvp.2_Silent_p.L168L|SIRT3_uc010qvq.2_Silent_p.L26L|SIRT3_uc009ybt.1_Non-coding_Transcript NM_012239 NP_001017524 Q9NTG7 SIRT3_HUMAN Homo sapiens sirtuin 3 (SIRT3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 168 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial matrix NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding endometrium(1)|lung(5)|urinary_tract(1) 7 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129) CGTACTGCTGGAGGTTGCTGT 0.547000 28 4 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142460771 142460771 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:142460771C>T uc003wak.2 + 4 661 c.644C>T c.(643-645)tCc>tTc p.S215F TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.S155F NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 215 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GGAGTTGTCTCCTGGGGTGAT 0.502000 49 21 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96922783 96922783 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:96922783G>A uc001yfn.2 + 10 1242 c.1198G>A c.(1198-1200)Gat>Aat p.D400N NM_152327 NP_689540 Q96M32 KAD7_HUMAN Homo sapiens adenylate kinase 7 (AK7), mRNA. 400 Adenylate kinase. cell projection organization cytosol ATP binding|adenylate kinase activity|cytidylate kinase activity p.D400E(1) breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) CCAACTGAAGGATGTCATTTC 0.378000 44 8 0 0 1 0 0 LLGL2 3993 broad.mit.edu 37 17 73554278 73554278 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:73554278G>A uc002joh.3 + 3 370 c.216G>A c.(214-216)gaG>gaA p.E72E LLGL2_uc002jog.1_Silent_p.E72E|LLGL2_uc010dgf.1_Silent_p.E72E|LLGL2_uc002joi.3_Silent_p.E72E|LLGL2_uc010dgg.2_Silent_p.E72E|LLGL2_uc002joj.3_Silent_p.E61E NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA. 72 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) TGCACCAGGAGAACAACGCTG 0.627000 131 13 0 0 1 0 0 SLC22A10 387775 broad.mit.edu 37 11 63069894 63069894 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:63069894C>T uc009yor.3 + 6 1372 c.1164C>T c.(1162-1164)gtC>gtT p.V388V SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Intron|SLC22A10_uc010rmp.1_Intron NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA. 388 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 ATGGAGCTGTCGCTCTCATAG 0.433000 13 4 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17331560 17331560 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:17331560G>A uc001baa.2 - 3 486 c.296C>T c.(295-297)tCc>tTc p.S99F ATP13A2_uc001bac.2_Missense_Mutation_p.S99F|ATP13A2_uc001bab.2_Missense_Mutation_p.S99F NM_022089 NP_071372 Q9NQ11 AT132_HUMAN Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA. 99 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) GAGCTGCCAGGAACTATCCTG 0.637000 31 13 0 0 1 0 0 LOC254559 254559 broad.mit.edu 37 15 89911359 89911359 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:89911359C>T uc002bnv.2 + 0 c.30C>T Homo sapiens uncharacterized LOC254559 (LOC254559), non-coding RNA. TGCGAgcgcccgccccaccga 0.637000 20 4 0 0 1 0 0 MLC1 23209 broad.mit.edu 37 22 50523257 50523257 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:50523257G>A uc003bjg.1 - 1 348 c.75C>T c.(73-75)ccC>ccT p.P25P MLC1_uc011arl.1_Silent_p.P25P|MLC1_uc003bjh.1_Silent_p.P25P|MLC1_uc011arm.1_Silent_p.P25P|MLC1_uc011arn.1_Intron|MLC1_uc011aro.1_Silent_p.P25P NM_139202 NP_631941 Q15049 MLC1_HUMAN Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA. 25 P -> H (in Ref. 8; AAH28425). basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3) 18 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) CATAGCTGGCGGGGTCTTGCC 0.647000 51 9 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43058182 43058182 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:43058182G>A uc002xma.3 + 9 1391 c.1302G>A c.(1300-1302)caG>caA p.Q434Q HNF4A_uc002xlu.3_Silent_p.Q402Q|HNF4A_uc002xlv.3_Silent_p.Q412Q|HNF4A_uc010ggq.3_Silent_p.Q427Q|HNF4A_uc002xlz.3_Silent_p.Q424Q NM_000457 NP_000448 P41235 HNF4A_HUMAN Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA. 434 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) AGACCCCACAGCCCTCACCGC 0.607000 323 22 0 0 1 0 0 RCC2 55920 broad.mit.edu 37 1 17743075 17743075 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:17743075G>A uc001bal.3 - 6 976 c.927C>T c.(925-927)ccC>ccT p.P309P RCC2_uc001bam.3_Silent_p.P309P NM_001136204 NP_061185 Q9P258 RCC2_HUMAN Homo sapiens regulator of chromosome condensation 2 (RCC2), transcript variant 2, mRNA. 309 cell division|mitotic prometaphase chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4) 17 Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) CCACTCGCCGGGGAACTAGTT 0.557000 66 5 0 0 1 0 0 PDE4C 5143 broad.mit.edu 37 19 18322014 18322014 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:18322014C>T uc010xqc.2 - 14 2344 c.1864G>A c.(1864-1866)Gac>Aac p.D622N PDE4C_uc002nik.4_Missense_Mutation_p.D622N|PDE4C_uc002nil.4_Missense_Mutation_p.D622N|PDE4C_uc002nig.4_Missense_Mutation_p.D337N|PDE4C_uc002nih.4_Missense_Mutation_p.D392N|PDE4C_uc010ebk.3_Missense_Mutation_p.D516N|PDE4C_uc002nii.4_Missense_Mutation_p.D590N|PDE4C_uc002nif.4_Missense_Mutation_p.D391N|PDE4C_uc010ebl.3_Missense_Mutation_p.D336N NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA. 622 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) TCCAGCAGGTCCTGTGCATCT 0.622000 55 15 0 0 1 0 0 EDN1 1906 broad.mit.edu 37 6 12292676 12292676 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:12292676C>T uc003nae.4 + 1 501 c.167C>T c.(166-168)tCg>tTg p.S56L EDN1_uc010jpb.3_Missense_Mutation_p.S56L|EDN1_uc003nad.3_Missense_Mutation_p.S56L|EDN1_uc003naf.4_Missense_Mutation_p.S55L NM_001955 NP_001946 P05305 EDN1_HUMAN Homo sapiens endothelin 1 (EDN1), transcript variant 1, mRNA. 56 artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of JUN kinase activity|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction cytoplasm|extracellular space cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 13 all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12) all_hematologic(90;0.117) TGCTCCTGCTCGTCCCTGATG 0.587000 86 5 0 0 1 0 0 CXCR2 3579 broad.mit.edu 37 2 218999542 218999542 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:218999542G>A uc002vgz.2 + 3 228 c.18G>A c.(16-18)atG>atA p.M6I CXCR2_uc002vha.2_Missense_Mutation_p.M6I|CXCR2_uc002vhb.2_Missense_Mutation_p.M6I|CXCR2_uc021vwp.1_Missense_Mutation_p.M6I NM_001168298 NP_001548 P25025 CXCR2_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA. 6 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 ATTTTAACATGGAGAGTGACA 0.403000 64 6 0 0 1 0 0 TRIML2 205860 broad.mit.edu 37 4 189012974 189012974 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:189012974G>A uc011cle.1 - 7 1164 c.942C>T c.(940-942)ttC>ttT p.F314F TRIML2_uc003izj.1_Silent_p.F67F|TRIML2_uc003izk.1_Silent_p.F47F|TRIML2_uc003izl.2_Silent_p.F239F NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA. 239 B30.2/SPRY. ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) CCATGGCACTGAAATCCAATC 0.557000 118 7 0 0 1 0 0 EPS15L1 58513 broad.mit.edu 37 19 16528870 16528870 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:16528870T>G uc002ndx.3 - 10 1002 c.996A>C c.(994-996)caA>caC p.Q332H EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.Q222H|EPS15L1_uc002ndz.1_Missense_Mutation_p.Q332H|EPS15L1_uc010xpf.1_Missense_Mutation_p.Q235H|EPS15L1_uc002nea.1_Missense_Mutation_p.Q332H|EPS15L1_uc010eah.1_Missense_Mutation_p.Q332H|EPS15L1_uc002neb.1_Missense_Mutation_p.Q178H|EPS15L1_uc002nec.1_Missense_Mutation_p.Q332H NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA. 332 EH 3. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 CTAACGCGAATTGGTCTTTGC 0.547000 OREG0025334 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 61 8 0 0 1 0 0 SRP68 6730 broad.mit.edu 37 17 74060089 74060089 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:74060089G>A uc002jqk.1 - 3 564 c.529C>T c.(529-531)Cgc>Tgc p.R177C SRP68_uc010wsu.1_Missense_Mutation_p.R76C|SRP68_uc002jql.1_Missense_Mutation_p.R139C NM_014230 NP_055045 Q9UHB9 SRP68_HUMAN Homo sapiens signal recognition particle 68kDa (SRP68), mRNA. 177 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 GCATCCACGCGATTGCTCTCA 0.448000 102 7 0 0 1 0 0 PET112 5188 broad.mit.edu 37 4 152629191 152629191 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:152629191G>A uc003iml.3 - 5 867 c.826C>T c.(826-828)Cga>Tga p.R276* PET112_uc003imm.4_Nonsense_Mutation_p.R276* NM_004564 NP_004555 O75879 GATB_HUMAN Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA. 276 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) ACTTCCGTTCGAACGCCCAAA 0.498000 33 10 0 0 1 0 0 GPR119 139760 broad.mit.edu 37 X 129518781 129518781 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:129518781G>A uc011muv.2 - 0 731 c.641C>T c.(640-642)tCc>tTc p.S214F NM_178471 NP_848566 Q8TDV5 GP119_HUMAN Homo sapiens G protein-coupled receptor 119 (GPR119), mRNA. 214 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 AGTCCGTGGGGATCGATAACC 0.517000 14 3 0 0 1 0 0 UBE2J2 118424 broad.mit.edu 37 1 1203257 1203257 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:1203257G>A uc001adp.3 - 1 305 c.116C>T c.(115-117)tCg>tTg p.S39L UBE2J2_uc001adm.3_5'UTR|UBE2J2_uc001ado.3_Missense_Mutation_p.S39L|UBE2J2_uc001adq.3_5'UTR|UBE2J2_uc001adr.3_Intron NM_058167 NP_919440 Q8N2K1 UB2J2_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2, J2 (UBE2J2), transcript variant 2, mRNA. 39 response to unfolded protein endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity p.P38H(1)|p.S39S(1) cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205) GAGAATATTCGAAGGGAGGGG 0.632000 179 43 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176316540 176316540 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:176316540C>T uc003mfa.3 - 7 848 c.756G>A c.(754-756)atG>atA p.M252I HK3_uc003mez.3_5'UTR NM_002115 NP_002106 P52790 HXK3_HUMAN Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA. 252 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTGCCTCCTCCATGTAACACG 0.637000 25 4 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28865889 28865889 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:28865889G>A uc002rmb.2 + 57 4383 c.4339G>A c.(4339-4341)Gaa>Aaa p.E1447K PLB1_uc010ezj.2_Missense_Mutation_p.E1436K|PLB1_uc002rme.2_Missense_Mutation_p.E412K NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA. 1447 lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TGGCCGGAGGGAAGATCCTCC 0.652000 12 4 0 0 1 0 0 PARP1 142 broad.mit.edu 37 1 226566885 226566885 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:226566885G>A uc001hqd.4 - 11 1874 c.1703C>T c.(1702-1704)tCc>tTc p.S568F NM_001618 NP_001609 P09874 PARP1_HUMAN Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA. 568 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) CTTGTAGTAGGAGTTGGTTCC 0.547000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 94 14 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8188893 8188893 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:8188893C>T uc002mjf.3 - 22 2749 c.2732_splice c.e22-1 p.D911_splice NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 911 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 AATCTCACATCTGCACGGGGG 0.617000 15 3 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66898966 66898966 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:66898966C>T uc002jhq.3 - 20 2992 c.2652G>A c.(2650-2652)gtG>gtA p.V884V ABCA8_uc002jhp.3_Silent_p.V844V|ABCA8_uc010wqq.2_Silent_p.V884V|ABCA8_uc010wqr.2_Silent_p.V823V|ABCA8_uc002jhr.3_Silent_p.V884V NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 844 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GATATATTTTCACCATGGTAT 0.388000 61 7 0 0 1 0 0 STAT4 6775 broad.mit.edu 37 2 191903929 191903929 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:191903929G>A uc002usm.2 - 15 1745 c.1430C>T c.(1429-1431)tCc>tTc p.S477F STAT4_uc002usn.2_Missense_Mutation_p.S477F|STAT4_uc010zgk.1_Missense_Mutation_p.S322F|STAT4_uc002uso.2_Missense_Mutation_p.S477F NM_003151 NP_003142 Q14765 STAT4_HUMAN Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA. 477 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GTCTACCTGGGAATCGTTGGT 0.428000 50 9 0 0 1 0 0 KCNA1 3736 broad.mit.edu 37 12 5021210 5021210 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:5021210C>T uc001qnh.3 + 1 1771 c.666C>T c.(664-666)ttC>ttT p.F222F KCNA1_uc021qts.1_Silent_p.F222F NM_000217 NP_000208 Q09470 KCNA1_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA. 222 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ACCCCTTCTTCATCGTGGAAA 0.527000 38 6 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65490764 65490764 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:65490764C>T uc002aon.2 - 8 2041 c.1860G>A c.(1858-1860)gtG>gtA p.V620V NM_003613 NP_003604 O75339 CILP1_HUMAN Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA. 620 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CACTGGCCTTCACTTTTCCTA 0.542000 128 9 0 0 1 0 0 SMYD3 64754 broad.mit.edu 37 1 245927442 245927442 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:245927442G>A uc001ibl.3 - 10 1211 c.1086C>T c.(1084-1086)ttC>ttT p.F362F SMYD3_uc001ibk.3_Silent_p.F303F|SMYD3_uc001ibj.3_Silent_p.F173F NM_001167740 NP_073580 Q9H7B4 SMYD3_HUMAN Homo sapiens SET and MYND domain containing 3 (SMYD3), transcript variant 1, mRNA. 362 cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding p.E361*(1)|p.C362C(1) breast(3)|large_intestine(5)|lung(8)|skin(1) 17 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) GGCTTCCTGGGAAAAAAATCC 0.483000 26 11 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82416787 82416787 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:82416787G>A uc001dit.4 + 7 1759 c.1578G>A c.(1576-1578)gtG>gtA p.V526V LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.V526V|LPHN2_uc001div.3_Silent_p.V526V|LPHN2_uc009wcd.3_Silent_p.V526V|LPHN2_uc001diw.3_Silent_p.V97V NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 526 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CACACTGGGTGAATCAGCTGG 0.418000 18 3 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12919002 12919002 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12919002G>A uc001aum.1 + 1 225 c.138G>A c.(136-138)agG>agA p.R46R NM_023014 NP_075390 O60811 PRAM2_HUMAN Homo sapiens PRAME family member 2 (PRAMEF2), mRNA. 46 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCTTCAGCAGGAGACACTTCC 0.592000 132 8 0 0 1 0 0 PION 54103 broad.mit.edu 37 7 76990179 76990179 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:76990179C>T uc003ugf.3 - 13 1068 c.989G>A c.(988-990)gGg>gAg p.G330E PION_uc003ugg.1_Missense_Mutation_p.G115E NM_017439 NP_059135 A4D1B5 GSAP_HUMAN Homo sapiens pigeon homolog (Drosophila) (PION), mRNA. 330 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CATGTGTGACCCAACATTCTC 0.463000 27 3 0 0 1 0 0 GPR6 2830 broad.mit.edu 37 6 110300859 110300859 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:110300859C>T uc011eav.2 + 2 833 c.589C>T c.(589-591)Ctg>Ttg p.L197L GPR6_uc011eaw.2_Silent_p.L182L|GPR6_uc003ptu.3_Silent_p.L182L|GPR6_uc021zds.1_Silent_p.L182L NM_005284 NP_005275 P46095 GPR6_HUMAN Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA. 182 integral to plasma membrane breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) GCGCCGGACCCTGTTGGGCGT 0.677000 34 8 0 0 1 0 0 AGAP2 116986 broad.mit.edu 37 12 58121770 58121770 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:58121770C>T uc001spq.3 - 14 2716 c.2716G>A c.(2716-2718)Gag>Aag p.E906K AGAP2_uc001spp.3_Missense_Mutation_p.E905K|AGAP2_uc001spr.3_Missense_Mutation_p.E550K|LOC100130776_uc001sps.4_3'UTR NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA. 906 PH. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 ATCTGACTCTCGATGGCCTGG 0.562000 128 11 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4906086 4906086 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:4906086C>T uc002gan.2 + 7 1026 c.669C>T c.(667-669)atC>atT p.I223I NM_006612 NP_006603 O43896 KIF1C_HUMAN Homo sapiens kinesin family member 1C (KIF1C), mRNA. 223 Kinesin-motor. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER Golgi apparatus|endoplasmic reticulum|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 TCTTTACCATCGTCTTCACAC 0.612000 125 8 0 0 1 0 0 SNX15 29907 broad.mit.edu 37 11 64799642 64799642 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:64799642C>T uc001oci.4 + 4 756 c.102C>T c.(100-102)ttC>ttT p.F34F SNX15_uc001ock.3_Silent_p.F34F NM_013306 NP_037438 Q9NRS6 SNX15_HUMAN Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA. 34 PX. cell communication|intracellular protein transport cytoplasmic vesicle membrane|cytosol phosphatidylinositol binding|protein transporter activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 TTTCTCAGTTCATCTCAAAGA 0.552000 74 4 0 0 1 0 0 SOHLH1 402381 broad.mit.edu 37 9 138589431 138589431 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:138589431C>T uc010nbe.3 - 3 449 c.388G>A c.(388-390)Gat>Aat p.D130N SOHLH1_uc004cgl.3_Missense_Mutation_p.D130N NM_001101677 NP_001095147 Q5JUK2 SOLH1_HUMAN Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA. 130 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1) 12 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) TGTAAAACATCCTCCTGCAAC 0.507000 35 4 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76023657 76023657 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:76023657C>T uc010kbe.3 - 5 2430 c.1900G>A c.(1900-1902)Gaa>Aaa p.E634K FILIP1_uc003phy.1_Missense_Mutation_p.E631K|FILIP1_uc003phz.3_Missense_Mutation_p.E532K|FILIP1_uc003pia.3_Missense_Mutation_p.E631K|FILIP1_uc003pib.1_Missense_Mutation_p.E383K NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 631 p.E631K(1) breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 AGTGTTAGTTCCTTAATCTTA 0.423000 99 12 0 0 1 0 0 OR1L1 26737 broad.mit.edu 37 9 125424379 125424379 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:125424379C>T uc022bmz.1 + 0 385 c.385C>T c.(385-387)Ccc>Tcc p.P129S NM_001005236 NP_001005236 Q8NH94 OR1L1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA. 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 CATATGTAATCCCTTCCACTA 0.468000 99 23 0 0 1 0 0 GFRA3 2676 broad.mit.edu 37 5 137593341 137593341 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:137593341C>T uc003lcn.3 - 3 912 c.772G>A c.(772-774)Gac>Aac p.D258N GFRA3_uc003lco.3_Missense_Mutation_p.D227N NM_001496 NP_001487 O60609 GFRA3_HUMAN Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA. 258 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CAAAGCGGGTCGGAGAAGCAG 0.692000 19 5 0 0 1 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687033 68687033 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:68687033G>A uc001jmz.1 + 1 909 c.359G>A c.(358-360)aGa>aAa p.R120K CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Missense_Mutation_p.R120K NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA. 120 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 AGTTCCAATAGAATCTCCTAT 0.383000 82 6 0 0 1 0 0 TOX3 27324 broad.mit.edu 37 16 52497915 52497915 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:52497915G>A uc002egw.2 - 2 510 c.339C>T c.(337-339)ctC>ctT p.L113L TOX3_uc010vgt.1_Silent_p.L108L NM_001080430 NP_001073899 O15405 TOX3_HUMAN Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA. 113 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 TAATGGAAGGGAGGTCCAGGC 0.478000 42 7 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52536615 52536615 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:52536615G>A uc010bff.3 - 18 2490 c.2328C>T c.(2326-2328)ttC>ttT p.F776F MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN Homo sapiens myosin VC (MYO5C), mRNA. 776 IQ 1. myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TCTCTCGGAGGAATTTTTTCC 0.483000 68 7 0 0 1 0 0 HTRA1 5654 broad.mit.edu 37 10 124249080 124249080 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:124249080G>A uc001lgj.2 + 2 843 c.715G>A c.(715-717)Gaa>Aaa p.E239K NM_002775 NP_002766 Q92743 HTRA1_HUMAN Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA. 239 Serine protease. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) TGCCACTTACGAAGCCAAAAT 0.493000 47 6 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31120235 31120235 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:31120235G>A uc003tca.2 + 4 562 c.273G>A c.(271-273)gaG>gaA p.E91E ADCYAP1R1_uc003tcg.3_Silent_p.E91E|ADCYAP1R1_uc003tce.2_Silent_p.E91E|ADCYAP1R1_uc003tcb.2_Intron|ADCYAP1R1_uc003tcc.2_Silent_p.E91E NM_001118 NP_001109 P41586 PACR_HUMAN Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA. 91 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 CAGTCTGGGAGACCGAAACCA 0.552000 48 9 0 0 1 0 0 SCAP 22937 broad.mit.edu 37 3 47469047 47469047 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:47469047G>A uc003crh.1 - 4 776 c.521C>T c.(520-522)cCt>cTt p.P174L SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron NM_012235 NP_036367 Q12770 SCAP_HUMAN Homo sapiens SREBF chaperone (SCAP), mRNA. 174 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) GAAGTTCCCAGGGGACAGCAG 0.567000 72 6 0 0 1 0 0 WDPCP 51057 broad.mit.edu 37 2 63720063 63720063 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:63720063G>A uc002sch.3 - 1 549 c.87C>T c.(85-87)tcC>tcT p.S29S WDPCP_uc002sci.2_Silent_p.S5S NM_015910 NP_056994 O95876 FRITZ_HUMAN Homo sapiens WD repeat containing planar cell polarity effector (WDPCP), mRNA. 29 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1) 35 GATGGCAGAAGGAATCTCTAT 0.338000 32 18 0 0 1 0 0 SULT2B1 6820 broad.mit.edu 37 19 49090502 49090502 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:49090502C>T uc002pjl.3 + 2 312 c.231C>T c.(229-231)atC>atT p.I77I SULT2B1_uc002pjm.3_Silent_p.I62I NM_177973 NP_814444 O00204 ST2B1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA. 77 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 11 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178) CCTGGATGATCGAGATCATCT 0.527000 40 7 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43325408 43325408 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:43325408G>A uc003oux.3 - 2 722 c.644C>T c.(643-645)cCc>cTc p.P215L ZNF318_uc003ouw.3_Non-coding_Transcript NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN Homo sapiens zinc finger protein 318 (ZNF318), mRNA. 215 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TCCCAAGAAGGGACTGAGAGG 0.493000 48 7 0 0 1 0 0 TNFRSF14 8764 broad.mit.edu 37 1 2492151 2492151 + Silent SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:2492151C>A uc001ajr.3 + 4 848 c.549C>A c.(547-549)acC>acA p.T183T TNFRSF14_uc009vlf.1_Silent_p.T183T|TNFRSF14_uc001ajt.1_Missense_Mutation_p.P353Q NM_003820 NP_003811 Q92956 TNR14_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 14 (TNFRSF14), mRNA. 183 T cell costimulation|immune response|interspecies interaction between organisms tumor necrosis factor receptor activity kidney(1) 1 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199) AGCACCAGACCAAGTAAGTGA 0.617000 """Mis, N, F""" follicular lymphoma 45 7 0.0293803 0.029572 1 1 0 MUC16 94025 broad.mit.edu 37 19 9089741 9089741 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9089741C>T uc002mkp.3 - 0 2278 c.2074G>A c.(2074-2076)Gaa>Aaa p.E692K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 692 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGGTTCCTTCCCTGAAAGCT 0.507000 37 12 0 0 1 0 0 RAG2 5897 broad.mit.edu 37 11 36615118 36615118 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:36615118G>A uc021qge.1 - 0 601 c.601C>T c.(601-603)Cag>Tag p.Q201* RAG2_uc021qgc.1_Nonsense_Mutation_p.Q201*|RAG2_uc021qgd.1_Nonsense_Mutation_p.Q201*|RAG2_uc001mwv.4_Nonsense_Mutation_p.Q201*|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank NM_001243786 NP_001230715 P55895 RAG2_HUMAN Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA. 201 T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins nucleus DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) AGCCCATCCTGAAGTTCTGGA 0.418000 Familial Hemophagocytic Lymphohistiocytosis 41 5 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6530577 6530577 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:6530577C>T uc001anp.1 - 15 2398 c.1900G>A c.(1900-1902)Gaa>Aaa p.E634K PLEKHG5_uc001ann.1_Missense_Mutation_p.E594K|PLEKHG5_uc001ano.1_Missense_Mutation_p.E613K|PLEKHG5_uc001anq.1_Missense_Mutation_p.E634K|PLEKHG5_uc001anj.1_Missense_Mutation_p.E118K|PLEKHG5_uc009vma.1_Missense_Mutation_p.E397K|PLEKHG5_uc010nzr.1_Missense_Mutation_p.E626K|PLEKHG5_uc001ank.1_Missense_Mutation_p.E557K|PLEKHG5_uc009vmb.1_Missense_Mutation_p.E557K|PLEKHG5_uc001anl.1_Missense_Mutation_p.E557K|PLEKHG5_uc001anm.1_Missense_Mutation_p.E557K NM_198681 NP_065682 O94827 PKHG5_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA. 613 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.D634Y(1) liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) TTGTCCACTTCGTCGCTGCTG 0.687000 21 5 0 0 1 0 0 IFT74 80173 broad.mit.edu 37 9 26978217 26978217 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:26978217C>T uc010mja.3 + 2 339 c.212C>T c.(211-213)cCt>cTt p.P71L IFT74_uc010mjb.3_Missense_Mutation_p.P71L|IFT74_uc003zqf.4_Missense_Mutation_p.P71L|IFT74_uc003zqg.4_Missense_Mutation_p.P71L NM_001099223 NP_079379 Q96LB3 IFT74_HUMAN Homo sapiens intraflagellar transport 74 homolog (Chlamydomonas) (IFT74), transcript variant 3, mRNA. 71 cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 6 all_neural(11;2.36e-10) Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114) GCCCATCGCCCTGTAACACAA 0.438000 15 3 0 0 1 0 0 HAUS2 55142 broad.mit.edu 37 15 42851594 42851594 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:42851594C>T uc001zqe.3 + 2 304 c.244C>T c.(244-246)Cct>Tct p.P82S HAUS2_uc010udi.2_Missense_Mutation_p.P51S|HAUS2_uc001zqf.3_5'UTR NM_018097 NP_060567 Q9NVX0 HAUS2_HUMAN Homo sapiens HAUS augmin-like complex, subunit 2 (HAUS2), transcript variant 1, mRNA. 82 G2/M transition of mitotic cell cycle|cell division|centrosome organization|mitosis|spindle assembly HAUS complex|centrosome|cytosol|microtubule|spindle endometrium(1)|large_intestine(1)|lung(1) 3 TGTTGTTCATCCTTTCTTTTT 0.338000 45 5 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102605694 102605695 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:102605694_102605695GG>AA uc001ykv.4 - 0 392_393 c.47_48CC>TT c.(46-48)tcc>tTT p.S16F WDR20_uc001ylf.3_5'Flank|WDR20_uc001ykz.3_5'Flank|WDR20_uc010txu.2_5'Flank|WDR20_uc001yky.2_5'Flank|WDR20_uc001yla.3_5'Flank|WDR20_uc001ylb.3_5'Flank|WDR20_uc001ylc.3_5'Flank|WDR20_uc001yle.3_5'Flank|WDR20_uc001yld.3_5'Flank NM_001017963 NP_005339 P07900 HS90A_HUMAN Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 1, mRNA. 0 G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) TGTCCCGAAGGGAGGGCCCAGG 0.728000 29 4 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128477558 128477558 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:128477558G>A uc003vnz.4 + 3 1015 c.806G>A c.(805-807)cGa>cAa p.R269Q FLNC_uc003voa.4_Missense_Mutation_p.R269Q NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 269 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GCCCCTGTTCGATCCAAGCAG 0.602000 70 9 0 0 1 0 0 FOXM1 2305 broad.mit.edu 37 12 2968072 2968072 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:2968072C>T uc001qlf.3 - 8 2307 c.2024G>A c.(2023-2025)aGg>aAg p.R675K LOC100507424_uc021qtc.1_Intron|FOXM1_uc001qle.3_Missense_Mutation_p.R713K|FOXM1_uc009zea.3_Missense_Mutation_p.R660K|FOXM1_uc009zeb.3_Missense_Mutation_p.R659K|FOXM1_uc001qlg.3_Missense_Mutation_p.R660K NM_021953 NP_068772 Q08050 FOXM1_HUMAN Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA. 675 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) ACTGAGGAGCCTTTGCGGTGA 0.602000 58 5 0 0 1 0 0 SLC26A10 65012 broad.mit.edu 37 12 58014116 58014116 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:58014116C>T uc001spe.3 + 0 424 c.113C>T c.(112-114)tCt>tTt p.S38F BC073932_uc001spc.3_5'Flank|SLC26A10_uc001spf.3_Non-coding_Transcript NM_133489 NP_597996 Q8NG04 S2610_HUMAN Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA. 38 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) CCATCCACTTCTATCCCAGGC 0.537000 568 48 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135587504 135587504 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:135587504C>T uc003lbn.2 - 5 1634 c.1412G>A c.(1411-1413)tGg>tAg p.W471* TRPC7_uc010jef.2_Nonsense_Mutation_p.W407*|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Nonsense_Mutation_p.W22*|TRPC7_uc010jeh.2_Nonsense_Mutation_p.W410*|TRPC7_uc010jei.2_Nonsense_Mutation_p.W355* NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA. 471 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TAGCAGGTTCCACAAGTGCAG 0.567000 33 9 0 0 1 0 0 GNAT2 2780 broad.mit.edu 37 1 110146621 110146621 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:110146621C>T uc001dya.3 - 6 1039 c.826G>A c.(826-828)Gaa>Aaa p.E276K NM_005272 NP_005263 P19087 GNAT2_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 (GNAT2), mRNA. 276 G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity p.E276K(2) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 14 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227) TTGATTTTTTCCTCAAAGAGG 0.393000 39 6 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140710476 140710476 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140710476C>T uc003lji.2 + 0 225 c.225C>T c.(223-225)ttC>ttT p.F75F PCDHGC5_uc011dan.2_Silent_p.F75F NM_018912 NP_061735 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA. 75 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCCGCTTTTCGCTCTGAATC 0.582000 114 9 0 0 1 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15444102 15444102 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:15444102G>A uc003gno.3 + 2 829 c.570G>A c.(568-570)ggG>ggA p.G190G C1QTNF7_uc011bxb.2_Silent_p.G183G|C1QTNF7_uc003gnp.3_Silent_p.G183G NM_001135170 NP_114117 Q9BXJ2 C1QT7_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA. 183 C1q. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 CTGCCACAGGGAAGTTCATCT 0.438000 136 23 0 0 1 0 0 LAMC2 3918 broad.mit.edu 37 1 183195866 183195866 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:183195866C>T uc001gqa.2 + 8 1414 c.1100C>T c.(1099-1101)tCa>tTa p.S367L LAMC2_uc001gpz.4_Missense_Mutation_p.S367L|LAMC2_uc010poa.2_Missense_Mutation_p.S67L NM_005562 NP_005553 Q13753 LAMC2_HUMAN Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA. 367 Laminin IV type A. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 ACCCTGATTTCAGCCCGCCCT 0.502000 173 23 0 0 1 0 0 FBXO11 80204 broad.mit.edu 37 2 48066818 48066818 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:48066818G>A uc002rwe.3 - 1 396 c.323C>T c.(322-324)cCg>cTg p.P108L FBXO11_uc010fbl.3_Missense_Mutation_p.P24L|FBXO11_uc002rwg.2_Missense_Mutation_p.P108L NM_001190274 NP_001177203 Q86XK2 FBX11_HUMAN Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA. 108 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2)|p.D108V(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGTTCTTTTCGGCAAAAGAGT 0.373000 """Mis, F, D""" DLBCL 47 16 0 0 1 0 0 HECTD3 79654 broad.mit.edu 37 1 45475742 45475742 + Missense_Mutation SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:45475742G>T uc009vxk.3 - 3 773 c.675C>A c.(673-675)ttC>ttA p.F225L HECTD3_uc001cmy.4_5'Flank|HECTD3_uc010olh.2_Intron|UROD_uc010oli.2_5'Flank|UROD_uc001cna.2_5'Flank|UROD_uc001cnb.2_5'Flank|UROD_uc010olj.1_5'Flank NM_024602 NP_078878 Q5T447 HECD3_HUMAN Homo sapiens HECT domain containing 3 (HECTD3), mRNA. 225 DOC. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1) 28 Acute lymphoblastic leukemia(166;0.155) GGTCATACAAGAAGTGGATCA 0.572000 84 19 1.67942e-08 1.70146e-08 1 1 0 MYOM3 127294 broad.mit.edu 37 1 24411109 24411109 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:24411109G>A uc001bin.4 - 15 1982 c.1819C>T c.(1819-1821)Caa>Taa p.Q607* MYOM3_uc001bim.4_Nonsense_Mutation_p.Q264*|MYOM3_uc001bio.3_Nonsense_Mutation_p.Q607*|MYOM3_uc001bip.1_Nonsense_Mutation_p.Q264* NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 607 Fibronectin type-III 3. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GCTTGAACTTGAGCTGGAGGA 0.522000 214 13 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41552731 41552731 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:41552731T>G uc003xok.3 - 26 3163 c.3079A>C c.(3079-3081)Agc>Cgc p.S1027R NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.S343R|ANK1_uc003xoi.3_Missense_Mutation_p.S1027R|ANK1_uc003xoj.3_Missense_Mutation_p.S1027R|ANK1_uc003xol.3_Missense_Mutation_p.S1027R|ANK1_uc003xom.3_Missense_Mutation_p.S1068R NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 1027 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TCCAGGTAGCTCTCTCCATAG 0.627000 175 15 0 0 1 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23049399 23049399 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:23049399C>T uc003xda.3 - 9 1321 c.1215G>A c.(1213-1215)ggG>ggA p.G405G NM_003844 NP_003835 O00220 TR10A_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA. 405 Death. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) ACAAGGCATCCCCTGGGCCTG 0.542000 138 11 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24922614 24922614 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:24922614C>T uc001ywo.3 + 0 2074 c.1600C>T c.(1600-1602)Cca>Tca p.P534S NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 534 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GACTCTTCTTCCAGTCCCTTC 0.527000 180 9 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40498622 40498622 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:40498622G>A uc002hzl.1 - 2 478 c.238C>T c.(238-240)Cag>Tag p.Q80* STAT3_uc002hzk.1_Nonsense_Mutation_p.Q80*|STAT3_uc002hzm.1_Nonsense_Mutation_p.Q80*|STAT3_uc010wgh.1_5'UTR|STAT3_uc002hzn.1_Nonsense_Mutation_p.Q80* NM_139276 NP_644805 P40763 STAT3_HUMAN Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA. 80 JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) AGATTGTGCTGATAGAGAACA 0.468000 Hyperimmunoglobulin E Recurrent Infection Syndrome 189 11 0 0 1 0 0 SLC35C2 51006 broad.mit.edu 37 20 44983827 44983827 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:44983827G>A uc010zxp.2 - 6 642 c.549C>T c.(547-549)ttC>ttT p.F183F SLC35C2_uc002xro.3_Silent_p.F154F|SLC35C2_uc002xrp.3_Intron|SLC35C2_uc002xrq.3_Silent_p.F154F|SLC35C2_uc002xrr.3_Silent_p.F154F|SLC35C2_uc010zxn.2_Intron|SLC35C2_uc010zxo.2_Silent_p.F40F NM_173179 NP_775271 Q9NQQ7 S35C2_HUMAN Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA. 154 transport integral to membrane cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 16 Myeloproliferative disorder(115;0.0122) ACTTGTAGGTGAACATGAAGA 0.627000 41 8 0 0 1 0 0 RAG2 5897 broad.mit.edu 37 11 36614213 36614213 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:36614213C>T uc021qge.1 - 0 1506 c.1506G>A c.(1504-1506)atG>atA p.M502I RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Missense_Mutation_p.M502I|RAG2_uc021qgd.1_Missense_Mutation_p.M502I|RAG2_uc001mwv.4_Missense_Mutation_p.M502I|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank NM_001243786 NP_001230715 P55895 RAG2_HUMAN Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA. 502 T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins nucleus DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) GGAGGGATTTCATTGGAGGCT 0.408000 Familial Hemophagocytic Lymphohistiocytosis 57 4 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68191151 68191151 + Silent SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:68191151C>A uc001ont.3 + 13 3297 c.3222C>A c.(3220-3222)gtC>gtA p.V1074V LRP5_uc009ysg.3_Silent_p.V484V NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 1074 Beta-propeller 4. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCATCGTCGTCAACGCGGAGC 0.687000 63 4 0.00909568 0.00916563 1 1 0 FLT1 2321 broad.mit.edu 37 13 28880827 28880827 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:28880827G>A uc001usb.3 - 28 4088 c.3803C>T c.(3802-3804)tCg>tTg p.S1268L FLT1_uc010aap.2_Missense_Mutation_p.S273L|FLT1_uc010aaq.2_Missense_Mutation_p.S393L|FLT1_uc001usa.3_Missense_Mutation_p.S486L NM_002019 NP_002010 P17948 VGFR1_HUMAN Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA. 1268 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway Golgi apparatus|extracellular space|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) AATCTTGAGCGAGGCCTTGGG 0.532000 51 5 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48919962 48919962 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:48919962C>T uc010slu.2 + 0 548 c.548C>T c.(547-549)tCc>tTc p.S183F NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA. 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 GAGATGCCATCCCTCCTCCCT 0.498000 75 8 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123909254 123909254 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:123909254G>A uc001pzq.1 - 0 455 c.455C>T c.(454-456)tCt>tTt p.S152F NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA. 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AGAGTGCAGAGAGCCACTGAG 0.562000 105 11 0 0 1 0 0 CECR5 27440 broad.mit.edu 37 22 17619441 17619441 + Splice_Site SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:17619441C>A uc002zmf.3 - 7 963 c.935_splice c.e7+1 p.G312_splice CECR5_uc002zmh.3_Splice_Site_p.G282_splice NM_033070 NP_149061 Q9BXW7 CECR5_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 5 (CECR5), transcript variant 2, mRNA. 312 hydrolase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1) 21 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) AGAGCCTACCCCACAGCATAG 0.572000 165 6 1 1 1 1 0 FAM26F 441168 broad.mit.edu 37 6 116784811 116784811 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:116784811G>A uc003pwv.3 + 2 986 c.891G>A c.(889-891)gtG>gtA p.V297V NM_001010919 NP_001010919 Q5R3K3 FA26F_HUMAN Homo sapiens family with sequence similarity 26, member F (FAM26F), mRNA. 297 integral to membrane large_intestine(2)|lung(1) 3 GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231) GAGATACGGTGATTCCTGTTC 0.373000 152 17 0 0 1 0 0 PRSS38 339501 broad.mit.edu 37 1 228003912 228003912 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:228003912C>T uc001hrh.3 + 1 270 c.270C>T c.(268-270)ctC>ctT p.L90L NM_183062 NP_898885 A1L453 PRS38_HUMAN Homo sapiens protease, serine, 38 (PRSS38), mRNA. 90 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GCTCCATCCTCAATGAGTACT 0.667000 94 11 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103540236 103540236 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:103540236T>A uc001dum.3 - 3 907 c.589A>T c.(589-591)Att>Ttt p.I197F COL11A1_uc001dul.3_Missense_Mutation_p.I197F|COL11A1_uc001dun.3_Missense_Mutation_p.I197F|COL11A1_uc009weh.3_Missense_Mutation_p.I197F NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 197 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GTATCAACAATTGCTCTCTCA 0.373000 8 3 0 0 1 0 0 DFNA5 1687 broad.mit.edu 37 7 24749972 24749972 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:24749972C>T uc010kus.1 - 5 821 c.733G>A c.(733-735)Gag>Aag p.E245K DFNA5_uc003sxa.1_Missense_Mutation_p.E245K|DFNA5_uc010kut.1_Missense_Mutation_p.E81K NM_001127453 NP_001120926 O60443 DFNA5_HUMAN Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA. 245 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 TTCTTGTTCTCGAAGCCACCT 0.488000 62 14 0 0 1 0 0 ZNF708 7562 broad.mit.edu 37 19 21476108 21476108 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:21476108G>A uc002npq.1 - 3 1858 c.1660C>T c.(1660-1662)Cat>Tat p.H554Y ZNF708_uc002npr.1_Missense_Mutation_p.H490Y|ZNF708_uc010ecs.1_Missense_Mutation_p.H490Y NM_021269 NP_067092 P17019 ZN708_HUMAN Homo sapiens zinc finger protein 708 (ZNF708), mRNA. 554 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1) 32 TCTTTGGTATGAATTCTCTTA 0.318000 31 4 0 0 1 0 0 PLP1 5354 broad.mit.edu 37 X 103041538 103041539 + Silent DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:103041538_103041539CC>TT uc010nov.3 + 3 616_617 c.336_337CC>TT c.(334-339)ggcctg>ggTTtg p.112_113GL>GL RAB9B_uc004eli.2_Intron|PLP1_uc004elk.3_Silent_p.112_113GL>GL|PLP1_uc004elj.3_Silent_p.112_113GL>GL|PLP1_uc011msf.2_Silent_p.57_58GL>GL|PLP1_uc010now.1_Silent_p.116_117GL>GL|PLP1_uc010nox.3_Silent_p.66_67GL>GL NM_001128834 NP_001122306 P60201 MYPR_HUMAN Homo sapiens proteolipid protein 1 (PLP1), transcript variant 3, mRNA. 112 cell death|synaptic transmission integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 17 GCGGCAAGGGCCTGAGCGCAAC 0.579000 53 12 0 0 1 0 0 PION 54103 broad.mit.edu 37 7 76991953 76991953 + Missense_Mutation SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:76991953G>T uc003ugf.3 - 12 975 c.896C>A c.(895-897)cCg>cAg p.P299Q PION_uc003ugg.1_Missense_Mutation_p.P84Q NM_017439 NP_059135 A4D1B5 GSAP_HUMAN Homo sapiens pigeon homolog (Drosophila) (PION), mRNA. 299 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding p.P299P(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GGCACACTTCGGGCTGTAACA 0.313000 9 3 1 1 1 1 0 SLC6A3 6531 broad.mit.edu 37 5 1441490 1441490 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:1441490G>A uc003jck.3 - 2 528 c.402C>T c.(400-402)atC>atT p.I134I NM_001044 NP_001035 Q01959 SC6A3_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA. 134 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) GTATGGGGCAGATCTTCCAGA 0.582000 74 11 0 0 1 0 0 ZNF556 80032 broad.mit.edu 37 19 2878184 2878184 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:2878184C>T uc002lwp.1 + 3 1315 c.1228C>T c.(1228-1230)Ctt>Ttt p.L410F ZNF556_uc002lwq.3_Missense_Mutation_p.L409F NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN Homo sapiens zinc finger protein 556 (ZNF556), mRNA. 410 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTCAGGCGGGCTTTGCTCTTC 0.453000 113 5 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10467317 10467317 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:10467317C>T uc003wtc.3 - 3 4520 c.4291G>A c.(4291-4293)Gaa>Aaa p.E1431K NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 1431 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CTTCCTGCTTCCTCCTCCTGG 0.617000 278 18 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153141286 153141286 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:153141286G>A uc004fjb.3 - 0 114 c.6C>T c.(4-6)gtC>gtT p.V2V L1CAM_uc004fjc.3_Silent_p.V2V|L1CAM_uc010nuo.3_Silent_p.V2V|L1CAM_uc022chz.1_Silent_p.V2V NM_000425 NP_000416 P32004 L1CAM_HUMAN Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA. 2 axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCAGCGCCACGACCATCTTTC 0.692000 OREG0003586 type=REGULATORY REGION|Gene=L1CAM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 23 10 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021832 132021832 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:132021832C>T uc002tsn.2 + 14 2856 c.2804C>T c.(2803-2805)tCc>tTc p.S935F PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.S535F|POTEE_uc002tsl.2_Missense_Mutation_p.S517F|POTEE_uc010fmy.1_Missense_Mutation_p.S399F NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 935 Actin-like. ATP binding TCCAGCTCCTCCCTAGAGAAG 0.627000 171 20 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72992375 72992375 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:72992375G>A uc002fck.3 - 1 2343 c.1670C>T c.(1669-1671)tCc>tTc p.S557F ZFHX3_uc002fcl.3_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 557 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GACAACAAAGGAAGAAGCAGA 0.512000 62 6 0 0 1 0 0 TMEM178 130733 broad.mit.edu 37 2 39934281 39934281 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:39934281G>A uc002rrt.3 + 2 687 c.607G>A c.(607-609)Gag>Aag p.E203K TMEM178_uc021vgg.1_Missense_Mutation_p.E21K|TMEM178_uc010fam.2_Intron NM_152390 NP_689603 Q8NBL3 TM178_HUMAN Homo sapiens transmembrane protein 178 (TMEM178), transcript variant 1, mRNA. 203 integral to membrane endometrium(1)|large_intestine(5)|lung(5) 11 all_hematologic(82;0.248) CTTCTGGGAGGAGAGCTTGAC 0.567000 35 4 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13829790 13829790 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:13829790C>T uc003jfd.2 - 37 6315 c.6273G>A c.(6271-6273)caG>caA p.Q2091Q NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2091 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAGGGAGTTCCTGCCGTCCGG 0.428000 Kartagener syndrome 16 3 0 0 1 0 0 OSGIN1 29948 broad.mit.edu 37 16 83998949 83998949 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:83998949C>T uc002fha.3 + 6 1020 c.1020C>T c.(1018-1020)atC>atT p.I340I OSGIN1_uc002fhb.3_Silent_p.I257I|OSGIN1_uc002fhc.3_Silent_p.I257I NM_182981 NP_892026 Q9UJX0 OSGI1_HUMAN Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA. 340 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 GGCTGGGCATCCCCGGGGAGG 0.697000 55 4 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231186 7231186 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:7231186G>A uc010wzk.2 + 0 50 c.50G>A c.(49-51)aGg>aAg p.R17K NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA. 17 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GGCCCCAAGAGGATGCTGTTC 0.632000 67 4 0 0 1 0 0 SLC7A10 56301 broad.mit.edu 37 19 33700389 33700389 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:33700389C>T uc002num.2 - 9 1413 c.1266G>A c.(1264-1266)gtG>gtA p.V422V SLC7A10_uc002nul.2_Silent_p.V269V NM_019849 NP_062823 Q9NS82 AAA1_HUMAN Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA. 422 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) TGAGAAGGTTCACCTGGGGAA 0.607000 49 7 0 0 1 0 0 ZNF468 90333 broad.mit.edu 37 19 53344539 53344539 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:53344539G>A uc002qaf.3 - 3 1159 c.1008C>T c.(1006-1008)ttC>ttT p.F336F ZNF468_uc002qae.3_Silent_p.F283F|ZNF468_uc021uzb.1_Silent_p.F283F NM_001008801 NP_954583 Q5VIY5 ZN468_HUMAN Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA. 336 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) AATTATATGCGAAAGCCTCAT 0.363000 30 6 0 0 1 0 0 CRTC1 23373 broad.mit.edu 37 19 18888006 18888006 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:18888006C>T uc010ebv.3 + 14 1855 c.1767C>T c.(1765-1767)ctC>ctT p.L589L CRTC1_uc002nkb.4_Silent_p.L573L|CRTC1_uc010ebw.3_Silent_p.L409L NM_001098482 NP_001091952 Q6UUV9 CRTC1_HUMAN Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA. 573 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 CCCCCAGCCTCTCTAAAGAAC 0.632000 71 8 0 0 1 0 0 SLC6A12 6539 broad.mit.edu 37 12 301751 301751 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:301751G>A uc001qhz.3 - 15 2258 c.1594C>T c.(1594-1596)Ccg>Tcg p.P532S SLC6A12_uc001qhy.3_Missense_Mutation_p.P88S|SLC6A12_uc001qia.3_Missense_Mutation_p.P532S|SLC6A12_uc001qib.3_Missense_Mutation_p.P532S|SLC6A12_uc009zdh.2_Missense_Mutation_p.P532S NM_003044 NP_003035 P48065 S6A12_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA. 532 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) CCCCAGGGCGGGTACACATAG 0.562000 101 11 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10466082 10466082 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:10466082C>T uc003wtc.3 - 3 5755 c.5526G>A c.(5524-5526)ggG>ggA p.G1842G NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 1842 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GCTGGGCCTCCCCTTCAGCCT 0.627000 186 21 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131761669 131761669 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:131761669C>T uc021qav.1 - 1 312 c.211G>A c.(211-213)Gaa>Aaa p.E71K EBF3_uc001lki.2_Missense_Mutation_p.E85K|EBF3_uc010qur.1_Missense_Mutation_p.E71K NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN Homo sapiens early B-cell factor 3 (EBF3), mRNA. 85 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GCGGTCCTTTCAATCTCCACC 0.557000 147 13 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73728000 73728000 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:73728000C>T uc002jpg.3 + 10 1510 c.1323C>T c.(1321-1323)tcC>tcT p.S441S ITGB4_uc002jph.3_Silent_p.S441S|ITGB4_uc010dgo.3_Silent_p.S441S|ITGB4_uc002jpi.4_Silent_p.S441S|ITGB4_uc010dgp.1_Silent_p.S441S|ITGB4_uc002jpj.3_Silent_p.S441S|ITGB4_uc010wsh.1_5'UTR NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 441 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CTTCCTTCTCCGACGGCCTCA 0.637000 57 4 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48416420 48416420 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:48416420G>A uc001jfa.1 - 0 434 c.274C>T c.(274-276)Ctg>Ttg p.L92L NM_016204 NP_057288 Q9UK05 GDF2_HUMAN Homo sapiens growth differentiation factor 2 (GDF2), mRNA. 92 BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 CTGTTGTACAGGTCAATCATG 0.572000 70 13 0 0 1 0 0 SDCBP2 27111 broad.mit.edu 37 20 1291460 1291460 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:1291460C>T uc021vzn.1 - 7 867 c.808G>A c.(808-810)Gag>Aag p.E270K SDCBP2_uc021vzo.1_Missense_Mutation_p.E270K|SDCBP2_uc002weu.4_Missense_Mutation_p.E185K|SDCBP2_uc002wev.4_Missense_Mutation_p.E270K NM_001199784 NP_001186713 Q9H190 SDCB2_HUMAN Homo sapiens syndecan binding protein (syntenin) 2 (SDCBP2), transcript variant 3, mRNA. 270 intracellular signal transduction|intracellular transport|nervous system development cytoplasm protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1) 7 ACCATGTGCTCGTAGATCACA 0.582000 63 4 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5215583 5215583 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:5215583G>A uc002mbv.3 - 26 4354 c.4120C>T c.(4120-4122)Ccc>Tcc p.P1374S PTPRS_uc002mbu.1_Missense_Mutation_p.P943S|PTPRS_uc010xin.2_Intron|PTPRS_uc002mbw.3_Missense_Mutation_p.P1336S|PTPRS_uc002mbx.3_Missense_Mutation_p.P931S|PTPRS_uc002mby.3_Missense_Mutation_p.P927S NM_002850 NP_002841 Q13332 PTPRS_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA. 1374 cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) TCTGCGATGGGAATTGGCGGG 0.672000 62 8 0 0 1 0 0 ZNF613 79898 broad.mit.edu 37 19 52448549 52448549 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:52448549C>T uc002pxz.2 + 5 1877 c.1413C>T c.(1411-1413)ctC>ctT p.L471L ZNF613_uc002pya.2_Silent_p.L435L NM_001031721 NP_079116 Q6PF04 ZN613_HUMAN Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA. 471 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) AGTCAGGTCTCATTAACCACC 0.428000 30 7 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138429969 138429969 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:138429969G>A uc003vuf.3 - 12 1615 c.1377C>T c.(1375-1377)tcC>tcT p.S459S ATP6V0A4_uc003vug.3_Silent_p.S459S|ATP6V0A4_uc003vuh.3_Silent_p.S459S NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA. 459 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CCGTGTAGATGGAGAAGATGC 0.488000 62 19 0 0 1 0 0 KLHDC7B 113730 broad.mit.edu 37 22 50987925 50987925 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:50987925G>A uc003bmi.3 + 0 1464 c.1330G>A c.(1330-1332)Gag>Aag p.E444K NM_138433 NP_612442 Q96G42 KLD7B_HUMAN Homo sapiens kelch domain containing 7B (KLHDC7B), mRNA. 444 central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 14 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGTGGCCCACGAGGCTGTGGC 0.672000 101 19 0 0 1 0 0 SOCS5 9655 broad.mit.edu 37 2 46986993 46986993 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:46986993C>T uc021vgx.1 + 0 1324 c.1324C>T c.(1324-1326)Cat>Tat p.H442Y SOCS5_uc002rvf.3_Missense_Mutation_p.H442Y|SOCS5_uc002rvg.3_Missense_Mutation_p.H442Y NM_144949 NP_659198 O75159 SOCS5_HUMAN Homo sapiens suppressor of cytokine signaling 5 (SOCS5), transcript variant 2, mRNA. 442 SH2. cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of T-helper 2 cell differentiation|negative regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|regulation of growth breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) TTTCGACGCCCATGACCCGTG 0.463000 43 11 0 0 1 0 0 XKR3 150165 broad.mit.edu 37 22 17280821 17280821 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:17280821C>T uc002zlv.3 - 2 527 c.429G>A c.(427-429)acG>acA p.T143T XKR3_uc011agf.2_Silent_p.T143T NM_175878 NP_787074 Q5GH77 XKR3_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA. 143 T -> M (in dbSNP:rs5748648). integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TTTCCAGCATCGTGTTTCTCT 0.403000 61 6 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52719261 52719261 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:52719261C>T uc002pyp.3 + 7 1222 c.927C>T c.(925-927)ttC>ttT p.F309F PPP2R1A_uc010ydk.2_Silent_p.F254F|PPP2R1A_uc010epm.1_Silent_p.F349F|PPP2R1A_uc002pyq.3_Silent_p.F130F NM_014225 NP_055040 P30153 2AAA_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA. 309 PP2A subunit B binding.|Polyoma small and medium T antigens Binding. G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) CCACAGAGTTCTGTGAAAACC 0.542000 Mis clear cell ovarian carcinoma 50 7 0 0 1 0 0 PNPLA1 285848 broad.mit.edu 37 6 36270122 36270122 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:36270122C>T uc010jwf.2 + 5 1260 c.1260C>T c.(1258-1260)ccC>ccT p.P420P PNPLA1_uc010jwe.1_Silent_p.P334P|PNPLA1_uc003olw.1_Silent_p.P325P NM_001145717 NP_775947 Q8N8W4 PLPL1_HUMAN Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA. 420 Pro-rich. lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 CTCAGGCACCCACTTCACCCA 0.607000 OREG0017382 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 71 9 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40368576 40368576 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:40368576C>T uc002omp.4 - 27 12780 c.12772G>A c.(12772-12774)Gaa>Aaa p.E4258K NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 4258 VWFD 10. extracellular region protein binding p.D4257D(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCCCGACATTCGTCCCAACAC 0.647000 68 10 0 0 1 0 0 CD14 929 broad.mit.edu 37 5 140011608 140011608 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140011608C>T uc003lgi.2 - 1 1340 c.961G>A c.(961-963)Gtg>Atg p.V321M CD14_uc003lgj.2_Missense_Mutation_p.V321M|CD14_uc021yej.1_Missense_Mutation_p.V321M|CD14_uc021yek.1_Missense_Mutation_p.V321M|CD14_uc021yel.1_Missense_Mutation_p.V190M NM_000591 NP_001167576 P08571 CD14_HUMAN Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA. 321 Toll signaling pathway|apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production anchored to membrane|plasma membrane lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTTATCCACCTCGGGCAGC 0.627000 19 4 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72222738 72222738 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:72222738C>T uc010iic.3 + 5 681 c.564C>T c.(562-564)gaC>gaT p.D188D SLC4A4_uc003hfy.3_Silent_p.D188D|SLC4A4_uc010iib.3_Silent_p.D188D|SLC4A4_uc003hfz.3_Silent_p.D188D|SLC4A4_uc003hgc.4_Silent_p.D144D|SLC4A4_uc003hga.2_Silent_p.D66D|SLC4A4_uc003hgb.3_Silent_p.D144D NM_001134742 NP_001128214 Q9Y6R1 S4A4_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA. 188 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TGATTGTTGACCATCAGATTG 0.393000 31 7 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150171384 150171384 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:150171384G>A uc003whj.3 + 3 1297 c.967G>A c.(967-969)Ggc>Agc p.G323S NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 323 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CATCTGTACAGGCCCCCATGC 0.428000 37 5 0 0 1 0 0 KIAA0754 643314 broad.mit.edu 37 1 39878166 39878166 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:39878166C>T uc009vvt.1 + 0 2991 c.2229C>T c.(2227-2229)ttC>ttT p.F743F MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN Homo sapiens KIAA0754 (KIAA0754), mRNA. 607 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ACAGAAACTTCCCAGAGCAGG 0.488000 63 8 0 0 1 0 0 USP49 25862 broad.mit.edu 37 6 41767678 41767678 + Splice_Site SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:41767678T>C uc003ori.3 - 6 1784 c.1562_splice c.e6-1 p.S521_splice NM_018561 NP_061031 Q70CQ1 UBP49_HUMAN Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA. 521 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2) 23 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GTCGTTTGCCTATGTGGTTTG 0.433000 91 4 0 0 1 0 0 INPP5F 22876 broad.mit.edu 37 10 121563788 121563788 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:121563788C>T uc001leo.3 + 9 1436 c.1220C>T c.(1219-1221)tCg>tTg p.S407L NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA. 407 SAC. phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) ACTTACGTTTCGTTTGACTTC 0.428000 55 6 0 0 1 0 0 ZNF415 55786 broad.mit.edu 37 19 53612007 53612007 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:53612007G>A uc002qax.3 - 6 1784 c.1435C>T c.(1435-1437)Cgg>Tgg p.R479W ZNF415_uc010yds.2_Missense_Mutation_p.R431W|ZNF415_uc010ydt.2_Missense_Mutation_p.R431W|ZNF415_uc002qau.3_Missense_Mutation_p.R418W|ZNF415_uc002qav.3_Missense_Mutation_p.R443W|ZNF415_uc002qaw.3_Missense_Mutation_p.R431W|ZNF415_uc002qay.3_Missense_Mutation_p.R418W|ZNF415_uc002qaz.3_Missense_Mutation_p.R479W|ZNF415_uc002qba.3_Missense_Mutation_p.R201W Q09FC8 ZN415_HUMAN Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA. 479 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) TGAACTCTCCGATGACTCGCA 0.423000 63 5 0 0 1 0 0 UCHL1 7345 broad.mit.edu 37 4 41262768 41262768 + Silent SNP C T T rs121917767 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:41262768C>T uc003gvo.3 + 3 375 c.279C>T c.(277-279)atC>atT p.I93I UCHL1_uc003gvp.3_Silent_p.I12I NM_004181 NP_004172 P09936 UCHL1_HUMAN Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA. 93 I -> M (in PARK5; impaired enzymatic hydrolase activity; has about a 50% reduction in catalytic activity compared to wild-type protein). cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus|plasma membrane alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2) 8 GTGGCACAATCGGACTTATTC 0.443000 84 7 0 0 1 0 0 TMEM176A 55365 broad.mit.edu 37 7 150499346 150499346 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:150499346G>A uc003whx.1 + 2 296 c.218G>A c.(217-219)gGa>gAa p.G73E TMEM176B_uc003whu.4_5'Flank|TMEM176B_uc003whv.4_5'Flank|TMEM176B_uc003whw.4_5'Flank NM_018487 NP_060957 Q96HP8 T176A_HUMAN Homo sapiens transmembrane protein 176A (TMEM176A), mRNA. 73 integral to membrane breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTCCTAGGAGGATTTTTCTAC 0.572000 68 4 0 0 1 0 0 JAK3 3718 broad.mit.edu 37 19 17942510 17942510 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:17942510G>A uc002nhn.4 - 19 2878 c.2778C>T c.(2776-2778)ctC>ctT p.L926L JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Silent_p.L926L NM_000215 NP_000206 P52333 JAK3_HUMAN Homo sapiens Janus kinase 3 (JAK3), mRNA. 926 Protein kinase 2. B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9 cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 AATAGAGAAGGAGGCGGCTGG 0.697000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 21 5 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111090415 111090415 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:111090415C>T uc004epl.1 - 5 2546 c.1627G>A c.(1627-1629)Gaa>Aaa p.E543K TRPC5_uc004epm.1_Missense_Mutation_p.E543K NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA. 543 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GCTCTGGTTTCATAATAGAAG 0.433000 39 6 0 0 1 0 0 RASD2 23551 broad.mit.edu 37 22 35947785 35947785 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:35947785C>T uc003anx.3 + 2 712 c.507C>T c.(505-507)ttC>ttT p.F169F RASD2_uc003any.3_Silent_p.F169F NM_014310 NP_055125 Q96D21 RHES_HUMAN Homo sapiens RASD family, member 2 (RASD2), mRNA. 169 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 GCGCCTACTTCGAGGTGTCGG 0.622000 27 7 0 0 1 0 0 ABCC10 89845 broad.mit.edu 37 6 43416877 43416877 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:43416877C>T uc003ouy.1 + 19 4353 c.4138C>T c.(4138-4140)Cgg>Tgg p.R1380W ABCC10_uc003ouz.1_Missense_Mutation_p.R1352W|ABCC10_uc010jyo.1_Missense_Mutation_p.R486W NM_001198934 NP_001185863 Q5T3U5 MRP7_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA. 1380 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TGAGGGGGGCCGGAGCTTATC 0.582000 95 6 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42236862 42236862 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:42236862C>T uc003ose.2 - 4 1030 c.467G>A c.(466-468)cGa>cAa p.R156Q TRERF1_uc011duq.1_Missense_Mutation_p.R156Q|TRERF1_uc003osb.2_5'UTR|TRERF1_uc003osc.2_5'UTR|TRERF1_uc003osd.2_Missense_Mutation_p.R156Q NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 156 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GACCTGAATTCGCAGGTTTTG 0.567000 189 32 0 0 1 0 0 RAB3A 5864 broad.mit.edu 37 19 18313430 18313430 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:18313430G>A uc002nie.2 - 1 290 c.121C>T c.(121-123)Cgc>Tgc p.R41C NM_002866 NP_002857 P20336 RAB3A_HUMAN Homo sapiens RAB3A, member RAS oncogene family (RAB3A), mRNA. 41 glutamate secretion|protein transport|small GTPase mediated signal transduction clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle GTP binding|GTPase activity NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 8 TCAGCATAGCGGAAGAGGAAG 0.542000 OREG0025360 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 157 21 0 0 1 0 0 ARHGEF16 27237 broad.mit.edu 37 1 3389976 3389976 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:3389976C>T uc001akg.4 + 7 1443 c.1195C>T c.(1195-1197)Cga>Tga p.R399* ARHGEF16_uc001aki.3_Nonsense_Mutation_p.R111*|ARHGEF16_uc001akj.3_Nonsense_Mutation_p.R111*|ARHGEF16_uc009vli.1_Nonsense_Mutation_p.R103*|ARHGEF16_uc010nzh.2_Nonsense_Mutation_p.R103* NM_014448 NP_055263 Q5VV41 ARHGG_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA. 399 DH.|Required for RHOG activation and mediates interaction with EPHA2. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) CGCCGCCTTCCGAGAGGCCCT 0.652000 83 7 0 0 1 0 0 SERPING1 710 broad.mit.edu 37 11 57381988 57381988 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:57381988C>T uc001nkp.1 + 7 1628 c.1437C>T c.(1435-1437)ttC>ttT p.F479F SERPING1_uc010rju.1_Silent_p.F427F|SERPING1_uc010rjv.1_Silent_p.F484F|SERPING1_uc001nkr.1_Silent_p.F479F|SERPING1_uc001nks.1_Silent_p.F170F NM_000062 NP_001027466 P05155 IC1_HUMAN Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA. 479 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 CCTTCCTCTTCGTGCTCTGGG 0.617000 41 8 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6529212 6529212 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:6529212C>A uc001anp.1 - 19 2868 c.2370G>T c.(2368-2370)gaG>gaT p.E790D PLEKHG5_uc001ann.1_Missense_Mutation_p.E750D|PLEKHG5_uc001ano.1_Missense_Mutation_p.E769D|PLEKHG5_uc001anq.1_Missense_Mutation_p.E790D|TNFRSF25_uc001ana.3_5'Flank|TNFRSF25_uc001anb.3_5'Flank|TNFRSF25_uc001anc.3_5'Flank|TNFRSF25_uc001and.3_5'Flank|TNFRSF25_uc009vlz.3_5'Flank|TNFRSF25_uc001ane.3_5'Flank|TNFRSF25_uc001anf.3_5'Flank|TNFRSF25_uc001ang.3_5'Flank|TNFRSF25_uc001anh.3_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.E274D|PLEKHG5_uc009vma.1_Missense_Mutation_p.E553D|PLEKHG5_uc010nzr.1_Missense_Mutation_p.E782D|PLEKHG5_uc001ank.1_Missense_Mutation_p.E713D|PLEKHG5_uc009vmb.1_Missense_Mutation_p.E713D|PLEKHG5_uc001anl.1_Missense_Mutation_p.E713D|PLEKHG5_uc001anm.1_Missense_Mutation_p.E713D NM_198681 NP_065682 O94827 PKHG5_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA. 769 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) cctcctcttcctcctcctgct 0.637000 121 17 6.94344e-10 7.03974e-10 1 1 0 FUT1 2523 broad.mit.edu 37 19 49254056 49254056 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:49254056G>A uc002pkk.3 - 3 1458 c.483C>T c.(481-483)ttC>ttT p.F161F FUT1_uc021uwy.1_Silent_p.F161F NM_000148 NP_000139 P19526 FUT1_HUMAN Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA. 161 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) AGAGCTTCAGGAAAGGATCTC 0.612000 199 8 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233313642 233313642 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:233313642G>A uc001hvl.2 - 16 3414 c.3179C>T c.(3178-3180)tCc>tTc p.S1060F PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 1060 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TTGGATGAAGGACCTGAAAGT 0.418000 21 5 0 0 1 0 0 JUP 3728 broad.mit.edu 37 17 39914689 39914689 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39914689C>T uc002hxq.2 - 9 2012 c.1735G>A c.(1735-1737)Gag>Aag p.E579K JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Missense_Mutation_p.E579K|JUP_uc002hxs.2_Missense_Mutation_p.E579K NM_021991 NP_068831 P14923 PLAK_HUMAN Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA. 579 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) CGGAAGATCTCCATGCGGTTC 0.612000 51 11 0 0 1 0 0 HCK 3055 broad.mit.edu 37 20 30672323 30672323 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:30672323G>A uc002wxh.3 + 7 1049 c.812G>A c.(811-813)gGg>gAg p.G271E HCK_uc010gdy.3_Missense_Mutation_p.G251E|HCK_uc021wbv.1_Missense_Mutation_p.G250E|HCK_uc002wxi.3_Missense_Mutation_p.G249E NM_001172133 NP_001165604 P08631 HCK_HUMAN Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA. 271 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CTTGGAGCTGGGCAGTTTGGG 0.602000 43 6 0 0 1 0 0 TMEM50A 23585 broad.mit.edu 37 1 25669550 25669550 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:25669550C>T uc001bke.3 + 2 364 c.192C>T c.(190-192)acC>acT p.T64T TMEM50A_uc010oeq.2_Silent_p.T64T|TMEM50A_uc009vrr.3_Intron|TMEM50A_uc009vrs.3_Intron NM_014313 NP_055128 O95807 TM50A_HUMAN Homo sapiens transmembrane protein 50A (TMEM50A), mRNA. 64 endoplasmic reticulum|integral to membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204) TTATAGCAACCATAGCCTTCC 0.348000 71 5 0 0 1 0 0 PDYN 5173 broad.mit.edu 37 20 1961236 1961236 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:1961236C>T uc010gaj.3 - 2 740 c.498G>A c.(496-498)gaG>gaA p.E166E AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Silent_p.E166E|PDYN_uc021vzt.1_Silent_p.E166E|PDYN_uc021vzu.1_Silent_p.E166E|PDYN_uc002wfv.3_Silent_p.E166E NM_001190892 NP_077722 P01213 PDYN_HUMAN Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA. 166 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCTTGGGGTCCTCCTCAGCGA 0.597000 68 6 0 0 1 0 0 LIPF 8513 broad.mit.edu 37 10 90428507 90428507 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:90428507C>T uc001kfg.2 + 3 530 c.416C>T c.(415-417)gCt>gTt p.A139V LIPF_uc009xtk.3_Missense_Mutation_p.A139V|LIPF_uc001kfh.2_Missense_Mutation_p.A116V|LIPF_uc010qmt.2_Missense_Mutation_p.A149V|LIPF_uc010qmu.2_Missense_Mutation_p.A106V NM_004190 NP_004181 P07098 LIPG_HUMAN Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA. 139 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) GAATTCTGGGCTTTCAGGTAA 0.423000 22 3 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20494445 20494445 + Missense_Mutation SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:20494445G>T uc010bwe.3 + 13 1814 c.1575G>T c.(1573-1575)aaG>aaT p.K525N ACSM2A_uc002dhf.4_Missense_Mutation_p.K525N|ACSM2A_uc002dhg.4_Missense_Mutation_p.K525N|ACSM2A_uc010vay.2_Missense_Mutation_p.K446N|ACSM2A_uc002dhh.4_Missense_Mutation_p.K155N NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA. 525 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 AGCTCACCAAGGAGCTGCAGC 0.498000 64 5 0.000602214 0.000607816 1 1 0 UBASH3B 84959 broad.mit.edu 37 11 122666886 122666886 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:122666886C>T uc001pyi.4 + 7 1496 c.1136C>T c.(1135-1137)cCc>cTc p.P379L NM_032873 NP_116262 Q8TF42 UBS3B_HUMAN Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA. 379 cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) AACAGCCAGCCCGGCCCCCAG 0.547000 OREG0021442 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 65 14 0 0 1 0 0 KCNJ6 3763 broad.mit.edu 37 21 39087194 39087194 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:39087194C>T uc011aej.1 - 2 319 c.266G>A c.(265-267)tGg>tAg p.W89* KCNJ6_uc002ywo.2_Nonsense_Mutation_p.W89* NM_002240 NP_002231 P48051 IRK6_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA. 89 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) GTTGAATCTCCACTTCAGGTC 0.463000 76 18 0 0 1 0 0 LINC00482 284185 broad.mit.edu 37 17 79278553 79278554 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:79278553_79278554GG>AA uc002kac.1 - 3 1040_1041 c.611_612CC>TT c.(610-612)ccc>cTT p.P204L Homo sapiens long intergenic non-protein coding RNA 482 (LINC00482), non-coding RNA. CTCTGGTCCAGGGGCCTGGGTT 0.683000 11 3 0 0 1 0 0 SYN3 8224 broad.mit.edu 37 22 33402392 33402392 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:33402392G>A uc003amx.3 - 0 418 c.256C>T c.(256-258)Ccc>Tcc p.P86S SYN3_uc003amy.3_Missense_Mutation_p.P86S|SYN3_uc003amz.3_Missense_Mutation_p.P86S NM_003490 NP_003481 O14994 SYN3_HUMAN Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA. 86 B; linker. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity p.T85T(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 TGAACAATGGGCGTGGAGGGA 0.557000 113 17 0 0 1 0 0 RPUSD4 84881 broad.mit.edu 37 11 126081442 126081442 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:126081442A>T uc001qde.3 - 0 146 c.92T>A c.(91-93)tTt>tAt p.F31Y FAM118B_uc001qdf.3_5'Flank|FAM118B_uc009zca.3_5'Flank|RPUSD4_uc009zbz.3_Missense_Mutation_p.F31Y NM_032795 NP_116184 Q96CM3 RUSD4_HUMAN Homo sapiens RNA pseudouridylate synthase domain containing 4 (RPUSD4), transcript variant 1, mRNA. 31 pseudouridine synthesis RNA binding|protein binding|pseudouridine synthase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) AGCGGCACAAAATGGCTTTGA 0.607000 185 16 0 0 1 0 0 MBTPS2 51360 broad.mit.edu 37 X 21871530 21871530 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:21871530C>T uc004dae.3 + 4 776 c.579C>T c.(577-579)ctC>ctT p.L193L MBTPS2_uc010nfr.3_5'UTR|MBTPS2_uc004dab.2_Silent_p.L193L|YY2_uc011mjp.2_5'Flank NM_015884 NP_056968 O43462 MBTP2_HUMAN Homo sapiens membrane-bound transcription factor peptidase, site 2 (MBTPS2), mRNA. 193 cholesterol metabolic process|proteolysis Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 GGATTTTTCTCTTCATTATTT 0.333000 35 5 0 0 1 0 0 LONRF2 164832 broad.mit.edu 37 2 100919445 100919445 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:100919445C>T uc002tal.4 - 2 1499 c.859G>A c.(859-861)Gaa>Aaa p.E287K LONRF2_uc010yvs.2_Non-coding_Transcript NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA. 287 proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 TAGAGAAATTCCTTTAACACT 0.393000 57 13 0 0 1 0 0 FASTKD5 60493 broad.mit.edu 37 20 3128843 3128843 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:3128843G>A uc021vzx.1 - 0 874 c.874C>T c.(874-876)Cgt>Tgt p.R292C LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Missense_Mutation_p.R292C NM_021826 NP_068598 Q7L8L6 FAKD5_HUMAN Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA. 292 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 GATACCTGACGATTTTCACCT 0.343000 69 12 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106539229 106539229 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:106539229C>T uc021ser.1 - 2082 c.37917G>A Parts of antibodies, mostly variable regions. TCATCCATCCCATCCACTCAA 0.532000 41 7 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16256934 16256934 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:16256934C>T uc002den.4 - 23 3459 c.3422G>A c.(3421-3423)cGa>cAa p.R1141Q ABCC6_uc010bvo.3_Intron NM_001171 NP_001162 O95255 MRP6_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA. 1141 ABC transmembrane type-1 2. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) GGCCTGGGTTCGGAATGCCCG 0.597000 93 9 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31793022 31793022 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:31793022G>A uc003tcm.2 - 17 2567 c.2106C>T c.(2104-2106)atC>atT p.I702I PDE1C_uc003tcn.1_Silent_p.I702I|PDE1C_uc003tco.2_Silent_p.I762I NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 702 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.I702I(1)|p.I762I(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) AGTTATGTGAGATGTTCTGAA 0.473000 90 8 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40660824 40660824 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:40660824C>T uc001zlk.1 + 7 2600 c.2511C>T c.(2509-2511)ttC>ttT p.F837F NM_033510 NP_277045 A7MBM2 DISP2_HUMAN Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA. 837 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CGCTGTGTTTCGTGGAGACCC 0.692000 25 5 0 0 1 0 0 DDX24 57062 broad.mit.edu 37 14 94545435 94545435 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:94545435G>A uc001ycj.3 - 1 753 c.654C>T c.(652-654)atC>atT p.I218I DDX24_uc010twq.2_Silent_p.I175I|DDX24_uc010twr.2_Intron|IFI27L1_uc001ycl.3_5'Flank|IFI27L1_uc001yck.3_5'Flank NM_020414 NP_065147 Q9GZR7 DDX24_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA. 218 RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) TCAGGGCTTGGATTGGTGTGG 0.547000 102 6 0 0 1 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37679021 37679021 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:37679021C>T uc001uwm.1 - 0 781 c.373G>A c.(373-375)Gaa>Aaa p.E125K NM_145203 NP_660204 Q8N752 KC1AL_HUMAN Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA. 125 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) TGCACGTATTCAATTCTGCTG 0.408000 46 5 0 0 1 0 0 ZNF556 80032 broad.mit.edu 37 19 2873621 2873621 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:2873621G>A uc002lwp.1 + 2 217 c.130_splice c.e2+1 p.D44_splice ZNF556_uc002lwq.3_Splice_Site_p.D44_splice NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN Homo sapiens zinc finger protein 556 (ZNF556), mRNA. 44 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCTCAGTAGGTGAGGATAGC 0.463000 78 9 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23888752 23888752 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:23888752C>T uc001wjx.3 - 27 3899 c.3793G>A c.(3793-3795)Gag>Aag p.E1265K MIR208B_uc021rqy.1_5'Flank NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 1265 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CGCTGGGTCTCCTCCGCCTTG 0.562000 105 11 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44079738 44079738 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:44079738G>A uc002rtq.3 + 6 785 c.695_splice c.e6-1 p.G232_splice ABCG8_uc010yoa.2_Splice_Site_p.G232_splice NM_022437 NP_071882 Q9H221 ABCG8_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA. 232 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGTTGGAAAGGAATCCTTATT 0.622000 214 83 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45748058 45748058 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:45748058G>A uc003tne.4 + 17 2945 c.2927G>A c.(2926-2928)cGa>cAa p.R976Q NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 976 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) TTTGTCCTCCGAGTTGGTATG 0.512000 69 8 0 0 1 0 0 GPR55 9290 broad.mit.edu 37 2 231775087 231775087 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:231775087C>T uc021vxz.1 - 0 591 c.591G>A c.(589-591)atG>atA p.M197I GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Missense_Mutation_p.M197I|GPR55_uc010fxs.1_Missense_Mutation_p.M197I NM_005683 NP_005674 Q9Y2T6 GPR55_HUMAN Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA. 197 activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction integral to plasma membrane cannabinoid receptor activity endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145) AGCAGAAGCCCATGATGCCCA 0.567000 96 9 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118228050 118228050 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:118228050G>A uc004era.4 - 8 1276 c.1276C>T c.(1276-1278)Ctt>Ttt p.L426F NM_020721 NP_065772 Q9ULL0 K1210_HUMAN Homo sapiens KIAA1210 (KIAA1210), mRNA. 426 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CACACTGGAAGGCCACGAATC 0.483000 4 5 0 0 1 0 0 TPRA1 131601 broad.mit.edu 37 3 127298661 127298661 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:127298661G>A uc003ejn.2 - 2 513 c.180C>T c.(178-180)ttC>ttT p.F60F TPRA1_uc003ejl.2_Silent_p.F60F|TPRA1_uc010hsk.2_Silent_p.F60F|TPRA1_uc003ejm.3_Non-coding_Transcript NM_001136053 NP_057456 Q86W33 TPRA1_HUMAN Homo sapiens transmembrane protein, adipocyte asscociated 1 (TPRA1), transcript variant 1, mRNA. 60 aging|lipid metabolic process integral to membrane G-protein coupled receptor activity endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 9 TCCAGAGCAGGAAGATGAGGA 0.567000 38 4 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134073013 134073013 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:134073013C>T uc004cag.3 + 28 4243 c.4132C>T c.(4132-4134)Ccg>Tcg p.P1378S NUP214_uc004cah.3_Missense_Mutation_p.P1368S|NUP214_uc004cai.3_Missense_Mutation_p.P808S|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Missense_Mutation_p.P204S|NUP214_uc011mcf.1_Missense_Mutation_p.P155S|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR NM_005085 NP_005076 P35658 NU214_HUMAN Homo sapiens nucleoporin 214kDa (NUP214), mRNA. 1378 11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich. P -> L (in a breast cancer sample; somatic mutation). carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding p.P1378L(1) NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TACTGCCCCCCCGGTGTTAGG 0.542000 T """DEK, SET, ABL1""" """AML, T-ALL""" 54 4 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74659835 74659835 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:74659835C>T uc002axt.2 - 0 247 c.92G>A c.(91-93)aGg>aAg p.R31K CYP11A1_uc002axs.2_5'Flank|CYP11A1_uc010bjm.1_5'Flank|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.3_Missense_Mutation_p.R31K NM_000781 NP_001093243 P05108 CP11A_HUMAN Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 31 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) AGTGGGCACCCTGAGACGCCC 0.637000 65 7 0 0 1 0 0 PEX2 5828 broad.mit.edu 37 8 77895944 77895944 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:77895944G>A uc022awg.1 - 0 471 c.471C>T c.(469-471)ttC>ttT p.F157F PEX2_uc003yax.3_Silent_p.F157F|PEX2_uc003yay.3_Silent_p.F157F|PEX2_uc022awe.1_Silent_p.F157F|PEX2_uc022awf.1_Silent_p.F157F NM_001172087 NP_001165558 P28328 PEX2_HUMAN Homo sapiens peroxisomal biogenesis factor 2 (PEX2), transcript variant 4, mRNA. 157 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 14 CCCTCTGAAGGAAAATCAAAA 0.363000 48 5 0 0 1 0 0 C7orf31 136895 broad.mit.edu 37 7 25182351 25182351 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:25182351G>A uc003sxn.1 - 7 1328 c.767C>T c.(766-768)tCa>tTa p.S256L NM_138811 NP_620166 Q8N865 CG031_HUMAN Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA. 256 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 AGGGTCCCATGAATTTAAAGA 0.393000 50 7 0 0 1 0 0 APOL1 8542 broad.mit.edu 37 22 36661819 36661819 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:36661819G>A uc003ape.3 + 6 1259 c.985G>A c.(985-987)Gaa>Aaa p.E329K APOL1_uc011amn.1_Missense_Mutation_p.E190K|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Missense_Mutation_p.E190K|APOL1_uc003apf.3_Missense_Mutation_p.E313K|APOL1_uc011amp.2_Missense_Mutation_p.E313K|APOL1_uc011amq.2_Missense_Mutation_p.E295K|APOL1_uc010gwx.3_Missense_Mutation_p.E190K NM_145343 NP_003652 O14791 APOL1_HUMAN Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA. 313 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 AATCTCAGCTGAAAGCGGTGA 0.562000 73 6 0 0 1 0 0 GRIN3B 116444 broad.mit.edu 37 19 1005305 1005305 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:1005305G>A uc002lqo.1 + 2 1805 c.1805G>A c.(1804-1806)gGc>gAc p.G602D NM_138690 NP_619635 O60391 NMD3B_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA. 602 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) AGCCCCTACGGCCTCACGCCA 0.642000 55 6 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4513255 4513255 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:4513255G>A uc002mar.1 - 2 675 c.675C>T c.(673-675)tcC>tcT p.S225S PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN Homo sapiens perilipin 4 (PLIN4), mRNA. 225 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 TGAGCCCAGTGGACACAGCAT 0.572000 145 16 0 0 1 0 0 LYPD3 27076 broad.mit.edu 37 19 43965848 43965848 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:43965848G>A uc002owl.1 - 4 804 c.696C>T c.(694-696)tcC>tcT p.S232S LYPD3_uc002owm.3_3'UTR NM_014400 NP_055215 O95274 LYPD3_HUMAN Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA. 232 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) GGATTCGAGGGGAGAAGTAGG 0.622000 165 19 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92157894 92157894 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:92157894G>A uc001xzs.1 - 9 977 c.837C>T c.(835-837)tcC>tcT p.S279S NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 279 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) AGTCTGCCCTGGAAAACTAGA 0.333000 34 5 0 0 1 0 0 CCNT2 905 broad.mit.edu 37 2 135712019 135712019 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:135712019C>T uc002tuc.2 + 8 2027 c.1994C>T c.(1993-1995)cCc>cTc p.P665L CCNT2_uc010zbf.2_Intron|CCNT2_uc002tub.2_Intron|CCNT2_uc002tud.2_Missense_Mutation_p.P328L NM_058241 NP_490595 O60583 CCNT2_HUMAN Homo sapiens cyclin T2 (CCNT2), transcript variant b, mRNA. 665 Poly-Pro. cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein kinase binding endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.107) TTTAACCATCCCTTACCCCCT 0.478000 49 6 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29293628 29293628 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:29293628G>A uc002rmt.2 - 0 3500 c.3500C>T c.(3499-3501)tCa>tTa p.S1167L NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA. 1167 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CCAAGGCCCTGAGCTGTTCTT 0.637000 42 19 0 0 1 0 0 PRMT8 56341 broad.mit.edu 37 12 3677988 3677988 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:3677988G>A uc001qmf.3 + 4 965 c.598G>A c.(598-600)Gtg>Atg p.V200M PRMT8_uc009zed.3_Missense_Mutation_p.V191M|PRMT8_uc009zee.1_Non-coding_Transcript|PRMT8_uc001qmg.3_Missense_Mutation_p.V14M NM_019854 NP_062828 Q9NR22 ANM8_HUMAN Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA. 200 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity p.T199T(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) GCTCAACACGGTGATCTTTGC 0.577000 69 9 0 0 1 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276890 71276890 + Missense_Mutation SNP C T T rs36179995 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:71276890C>T uc001oqt.1 + 0 282 c.257C>T c.(256-258)tCc>tTc p.S86F NM_001012710 NP_001012728 Q6L8G5 KR510_HUMAN Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA. 86 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GGCTGTGGTTCCTGTGGGGGC 0.687000 119 9 0 0 1 0 0 PTGDR 5729 broad.mit.edu 37 14 52741629 52741629 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:52741629C>T uc001wzq.3 + 1 1129 c.1027C>T c.(1027-1029)Ctt>Ttt p.L343F NM_000953 NP_000944 Q13258 PD2R_HUMAN Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA. 343 integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) CATTAGACCTCTTAGGTACAG 0.388000 9 4 0 0 1 0 0 NEU4 129807 broad.mit.edu 37 2 242757513 242757513 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:242757513C>T uc002wcp.2 + 3 1127 c.633C>T c.(631-633)ttC>ttT p.F211F NEU4_uc010fzr.3_Silent_p.F198F|NEU4_uc002wcm.3_Silent_p.F198F|NEU4_uc002wco.2_Silent_p.F198F|NEU4_uc002wcn.2_Silent_p.F210F NM_001167599 NP_001161074 Q8WWR8 NEUR4_HUMAN Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA. 198 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) CTCACTCCTTCGCCTTCTACA 0.687000 23 4 0 0 1 0 0 MS4A12 54860 broad.mit.edu 37 11 60264994 60264994 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:60264994G>A uc001npr.3 + 1 260 c.203G>A c.(202-204)gGa>gAa p.G68E MS4A12_uc009ynb.3_Missense_Mutation_p.G68E|MS4A12_uc021qkb.1_Missense_Mutation_p.G68E NM_017716 NP_060186 Q9NXJ0 M4A12_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA. 68 integral to membrane receptor activity breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2) 17 CCGGGTCAAGGAAATATACAA 0.433000 29 7 0 0 1 0 0 GPHN 10243 broad.mit.edu 37 14 67147886 67147886 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:67147886C>T uc001xiy.3 + 1 1247 c.126C>T c.(124-126)ctC>ctT p.L42L GPHN_uc001xiw.3_Silent_p.L42L|GPHN_uc001xix.3_Silent_p.L42L|GPHN_uc010tss.2_Silent_p.L42L|GPHN_uc010tst.2_Silent_p.L42L NM_001024218 NP_001019389 Q9NQX3 GEPH_HUMAN Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA. 42 MPT Mo-transferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity p.L42L(1) large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) TCAAAGATCTCGTACAAGATC 0.299000 T MLL AL 14 3 0 0 1 0 0 CETP 1071 broad.mit.edu 37 16 57012110 57012110 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:57012110G>A uc002eki.2 + 10 1146 c.1089G>A c.(1087-1089)gtG>gtA p.V363V CETP_uc002ekj.2_Silent_p.V303V NM_000078 NP_000069 P11597 CETP_HUMAN Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA. 363 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding p.V363M(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3) 23 CAGTGATGGTGAAATTCCTCT 0.557000 125 11 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140166824 140166824 + Missense_Mutation SNP G A A rs143010606 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140166824G>A uc003lhb.2 + 0 949 c.949G>A c.(949-951)Gaa>Aaa p.E317K PCDHAC2_uc003lha.2_Missense_Mutation_p.E317K|PCDHAC2_uc003lgz.3_Missense_Mutation_p.E317K NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 332 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.E317K(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAATCCTACGAAATTCAAGT 0.353000 47 9 0 0 1 0 0 SLC38A8 146167 broad.mit.edu 37 16 84067056 84067056 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:84067056G>A uc002fhg.1 - 2 407 c.407C>T c.(406-408)tCt>tTt p.S136F NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA. 136 amino acid transport|sodium ion transport integral to membrane p.L135M(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 CGGGGTGCCAGACAGGAGGGA 0.682000 41 5 0 0 1 0 0 PTOV1 53635 broad.mit.edu 37 19 50357706 50357706 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:50357706C>T uc002pqf.1 + 1 385 c.215C>T c.(214-216)tCc>tTc p.S72F LOC100506033_uc002ppy.4_5'Flank|PTOV1_uc010ybf.2_Missense_Mutation_p.S40F|PTOV1_uc002pqb.4_Missense_Mutation_p.S40F|PTOV1_uc002pqa.3_Non-coding_Transcript|PTOV1_uc002pqd.3_Non-coding_Transcript|PTOV1_uc002pqe.2_Non-coding_Transcript|MIR4749_uc021uxw.1_5'Flank NM_017432 NP_059128 Q86YD1 PTOV1_HUMAN Homo sapiens prostate tumor overexpressed 1 (PTOV1), mRNA. 72 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1) 16 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) ATCGGTCCCTCCTCACCTGGG 0.667000 125 20 0 0 1 0 0 KLHL3 26249 broad.mit.edu 37 5 136964008 136964008 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:136964008C>T uc010jek.3 - 12 2013 c.1569G>A c.(1567-1569)atG>atA p.M523I KLHL3_uc011cyc.2_Missense_Mutation_p.M258I|KLHL3_uc003lbr.4_Missense_Mutation_p.M441I|KLHL3_uc011cyd.2_Non-coding_Transcript NM_017415 NP_059111 Q9UH77 KLHL3_HUMAN Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA. 523 cytoplasm|cytoskeleton actin binding|structural molecule activity breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) GGCACATGTTCATGTCTGCCA 0.542000 104 8 0 0 1 0 0 JAZF1 221895 broad.mit.edu 37 7 28220125 28220125 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:28220125G>A uc003szn.3 - 0 313 c.72C>T c.(70-72)ccC>ccT p.P24P JAZF1-AS1_uc011jzq.2_5'UTR NM_175061 NP_778231 Q86VZ6 JAZF1_HUMAN Homo sapiens JAZF zinc finger 1 (JAZF1), mRNA. 24 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcriptional repressor complex nucleic acid binding|transcription corepressor activity|zinc ion binding JAZF1/SUZ12(133) endometrium(1)|large_intestine(1)|lung(4) 6 CGGCCAGGGTGGGGAAGTGGA 0.672000 T SUZ12 endometrial stromal tumours 452 54 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169206001 169206001 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:169206001C>T uc003irp.3 - 11 1823 c.1531G>A c.(1531-1533)Gat>Aat p.D511N NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 511 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CTGTCATAATCATCACTCAGG 0.368000 32 4 0 0 1 0 0 ZBTB1 22890 broad.mit.edu 37 14 64988994 64988994 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:64988994G>A uc021rul.1 + 0 772 c.772G>A c.(772-774)Gat>Aat p.D258N ZBTB1_uc001xhh.4_Missense_Mutation_p.D258N|ZBTB1_uc010aqg.3_Missense_Mutation_p.D258N|ZBTB1_uc001xhi.2_Missense_Mutation_p.D258N|ZBTB1_uc021rum.1_5'Flank NM_001123329 NP_001116801 Q9Y2K1 ZBTB1_HUMAN Homo sapiens zinc finger and BTB domain containing 1 (ZBTB1), transcript variant 1, mRNA. 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) AGATATTAGAGATGGAAAAGA 0.358000 20 4 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 37035853 37035853 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:37035853C>T uc002rpl.3 + 14 1930 c.1628C>T c.(1627-1629)tCc>tTc p.S543F VIT_uc002rpm.3_Missense_Mutation_p.S528F|VIT_uc010ezv.3_Missense_Mutation_p.S506F|VIT_uc010ezw.3_Missense_Mutation_p.S507F NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN Homo sapiens vitrin (VIT), transcript variant 1, mRNA. 528 VWFA 2. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) TTTGAGATTTCCGACACGGAC 0.582000 73 6 0 0 1 0 0 TCTN3 26123 broad.mit.edu 37 10 97443350 97443350 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:97443350G>A uc001klb.4 - 9 1376 c.1132C>T c.(1132-1134)Cct>Tct p.P378S TCTN3_uc010qoi.2_Missense_Mutation_p.P230S|TCTN3_uc001kld.3_Missense_Mutation_p.P396S|TCTN3_uc009xux.1_Missense_Mutation_p.P200S|TCTN3_uc009xuy.1_Non-coding_Transcript NM_015631 NP_056446 Q6NUS6 TECT3_HUMAN Homo sapiens tectonic family member 3 (TCTN3), transcript variant 1, mRNA. 378 apoptosis integral to membrane breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Colorectal(252;0.0815) Epithelial(162;1.69e-07)|all cancers(201;5.63e-06) CCACTTCTAGGACTGGTGAGA 0.463000 58 6 0 0 1 0 0 SLC25A38 54977 broad.mit.edu 37 3 39435916 39435916 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:39435916C>T uc003cjo.2 + 5 1042 c.641C>T c.(640-642)aCc>aTc p.T214I NM_017875 NP_060345 Q96DW6 S2538_HUMAN Homo sapiens solute carrier family 25, member 38 (SLC25A38), nuclear gene encoding mitochondrial protein, mRNA. 214 erythrocyte differentiation|heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GTGGATGCAACCCTTATTCCT 0.408000 123 17 0 0 1 0 0 DTL 51514 broad.mit.edu 37 1 212273637 212273637 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:212273637G>A uc009xdc.3 + 13 1619 c.1305G>A c.(1303-1305)agG>agA p.R435R DTL_uc010ptb.2_Silent_p.R393R|DTL_uc001hiz.4_Silent_p.R164R NM_016448 NP_057532 Q9NZJ0 DTL_HUMAN Homo sapiens denticleless homolog (Drosophila) (DTL), mRNA. 435 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|centrosome|nuclear membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) AAGCCCCCAGGGCAAAGTGCA 0.493000 32 5 0 0 1 0 0 TRIM24 8805 broad.mit.edu 37 7 138255624 138255624 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:138255624C>T uc003vuc.3 + 10 1969 c.1754C>T c.(1753-1755)tCc>tTc p.S585F TRIM24_uc003vub.3_Missense_Mutation_p.S551F|TRIM24_uc022amn.1_Missense_Mutation_p.S509F NM_015905 NP_056989 O15164 TIF1A_HUMAN Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA. 585 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 AACAGCACATCCTCTACTCCT 0.463000 42 9 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2367371 2367371 + Missense_Mutation SNP C T T rs148726153 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:2367371C>T uc002cpy.1 - 9 1736 c.1024G>A c.(1024-1026)Gac>Aac p.D342N ABCA3_uc010bsk.1_Missense_Mutation_p.D342N|ABCA3_uc010bsl.1_Missense_Mutation_p.D342N NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 342 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) AGGGAGGGGTCGCTGCGGGAC 0.622000 92 11 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38592515 38592515 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:38592515G>A uc021wvo.1 - 26 5400 c.5348C>T c.(5347-5349)aCc>aTc p.T1783I SCN5A_uc021wvk.1_Missense_Mutation_p.T1750I|SCN5A_uc021wvl.1_Missense_Mutation_p.T1729I|SCN5A_uc021wvm.1_Missense_Mutation_p.T1765I|SCN5A_uc021wvn.1_Missense_Mutation_p.T1782I|SCN5A_uc021wvp.1_Missense_Mutation_p.T1783I|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.T1595I|SCN5A_uc021wvi.1_Missense_Mutation_p.T1649I NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1783 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CAGGGGCTCGGTGCTCTCCTC 0.502000 55 4 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9064755 9064755 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9064755G>A uc002mkp.3 - 2 22895 c.22691C>T c.(22690-22692)tCt>tTt p.S7564F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7566 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGACACTTTAGAAAGAACAGT 0.498000 32 5 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40843438 40843438 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:40843438G>A uc003jmg.3 + 1 543 c.468G>A c.(466-468)agG>agA p.R156R NM_032587 NP_115976 Q9BX69 CARD6_HUMAN Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA. 156 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 CTAGTTATAGGGAAACAGCTT 0.418000 19 6 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347402 71347402 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:71347402C>T uc011cat.2 + 3 1229 c.941C>T c.(940-942)tCc>tTc p.S314F MUC7_uc011cau.2_Missense_Mutation_p.S314F|MUC7_uc003hfj.3_Missense_Mutation_p.S314F NM_001145006 NP_689504 Q8TAX7 MUC7_HUMAN Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA. 314 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) CCTAATTCTTCCCCAACTACT 0.512000 89 7 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17699768 17699768 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:17699768C>T uc002grm.3 + 2 3975 c.3506C>T c.(3505-3507)cCc>cTc p.P1169L RAI1_uc002grn.1_Missense_Mutation_p.P1169L NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN Homo sapiens retinoic acid induced 1 (RAI1), mRNA. 1169 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) GGCCGGCTCCCCAACTGCCGT 0.647000 47 10 0 0 1 0 0 TTC27 55622 broad.mit.edu 37 2 32853391 32853391 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:32853391G>A uc002rom.3 + 0 305 c.32G>A c.(31-33)gGa>gAa p.G11E TTC27_uc010ymx.2_Intron NM_017735 NP_001180438 Q6P3X3 TTC27_HUMAN Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA. 11 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 ATTCTGAGGGGATTCCCCACT 0.607000 33 12 0 0 1 0 0 PROM2 150696 broad.mit.edu 37 2 95947716 95947716 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:95947716C>T uc002suk.3 + 12 1728 c.1595C>T c.(1594-1596)tCg>tTg p.S532L PROM2_uc002suh.2_Missense_Mutation_p.S532L|PROM2_uc002sui.3_Missense_Mutation_p.S532L|PROM2_uc002suj.3_Missense_Mutation_p.S186L|PROM2_uc002sul.3_Missense_Mutation_p.S58L|PROM2_uc002sum.3_Non-coding_Transcript NM_001165977 NP_653308 Q8N271 PROM2_HUMAN Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA. 532 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 ATGAACCTGTCGCAACTTCTT 0.627000 51 5 0 0 1 0 0 PHLDA1 22822 broad.mit.edu 37 12 76425163 76425163 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:76425163G>A uc001sxu.3 - 0 394 c.359C>T c.(358-360)cCc>cTc p.P120L PHLDA1_uc021rax.1_Missense_Mutation_p.P120L NM_007350 NP_031376 Q8WV24 PHLA1_HUMAN Homo sapiens pleckstrin homology-like domain, family A, member 1 (PHLDA1), mRNA. 120 apoptosis cytoplasmic vesicle membrane|nucleolus|plasma membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 14 Colorectal(145;0.09) GCGGGCCGGGGGCAGCAGCAG 0.731000 21 4 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17023098 17023098 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:17023098C>T uc001azn.1 - 9 1766 c.1652G>A c.(1651-1653)gGa>gAa p.G551E Homo sapiens espin pseudogene (ESPNP), non-coding RNA. AACCAAGCTTCCGTTGAGCAG 0.687000 10 3 0 0 1 0 0 MCM5 4174 broad.mit.edu 37 22 35812735 35812735 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:35812735C>T uc003anu.4 + 11 1612 c.1518C>T c.(1516-1518)ttC>ttT p.F506F MCM5_uc003anv.4_Silent_p.F463F|MCM5_uc010gws.2_Non-coding_Transcript|MCM5_uc003anw.1_Silent_p.F290F NM_006739 NP_006730 P33992 MCM5_HUMAN Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA. 506 MCM. DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex ATP binding|DNA binding|helicase activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 ACATTGACTTCATGCCCACCA 0.592000 89 11 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129288798 129288798 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:129288798G>A uc003emx.2 - 19 3853 c.3753C>T c.(3751-3753)atC>atT p.I1251I PLXND1_uc011blb.1_5'Flank NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN Homo sapiens plexin D1 (PLXND1), mRNA. 1251 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 TCCCTACCTGGATCTGTGCAG 0.562000 33 6 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 31343015 31343015 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:31343015C>T uc002hht.3 - 8 2437 c.1564G>A c.(1564-1566)Gac>Aac p.D522N ASIC2_uc002hhu.3_Missense_Mutation_p.D471N NM_183377 NP_899233 Q16515 ACCN1_HUMAN Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA. 471 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CTCCCTTCGTCCTCCTCTTTG 0.532000 55 10 0 0 1 0 0 CCDC74A 90557 broad.mit.edu 37 2 132290607 132290607 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:132290607C>T uc002tta.3 + 6 1024 c.972C>T c.(970-972)ttC>ttT p.F324F CCDC74A_uc002ttb.3_Silent_p.F258F|CCDC74A_uc021vpq.1_Missense_Mutation_p.S260F|CCDC74A_uc021vpr.1_Silent_p.F321F NM_138770 NP_620125 Q96AQ1 CC74A_HUMAN Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA. 324 endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 CCACGCATTTCCCCAAGGTCT 0.632000 86 5 0 0 1 0 0 DUOX1 53905 broad.mit.edu 37 15 45428767 45428767 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:45428767C>T uc001zus.1 + 9 1312 c.966C>T c.(964-966)ttC>ttT p.F322F DUOX1_uc001zut.1_Silent_p.F322F|DUOX1_uc010bee.1_5'UTR NM_017434 NP_787954 Q9NRD9 DUOX1_HUMAN Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA. 322 Peroxidase-like; mediates peroxidase activity. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CCTCAGAGTTCGTGGCGGCCT 0.577000 73 6 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956219 18956219 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:18956219G>A uc001mpg.3 - 0 331 c.113C>T c.(112-114)tCc>tTc p.S38F NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA. 38 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity p.V37I(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CCCGACAAGGGAAACGATGCA 0.557000 195 6 0 0 1 0 0 ARL6IP5 10550 broad.mit.edu 37 3 69151146 69151146 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:69151146C>T uc003dnr.3 + 1 442 c.333C>T c.(331-333)ttC>ttT p.F111F NM_006407 NP_006398 O75915 PRAF3_HUMAN Homo sapiens ADP-ribosylation-like factor 6 interacting protein 5 (ARL6IP5), mRNA. 111 L-glutamate transport endoplasmic reticulum membrane|integral to membrane biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1) 7 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238) CGAGCTATTTCCTTATCTCCA 0.453000 38 4 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 63113907 63113907 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:63113907G>A uc001daq.3 - 5 636 c.602C>T c.(601-603)tCa>tTa p.S201L DOCK7_uc001dan.3_Missense_Mutation_p.S93L|DOCK7_uc001dao.3_Missense_Mutation_p.S93L|DOCK7_uc001dap.3_Missense_Mutation_p.S201L|DOCK7_uc009wah.1_Missense_Mutation_p.S201L NM_033407 NP_212132 Q96N67 DOCK7_HUMAN Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA. 201 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity p.S201L(2)|p.S201fs*3(1)|p.N200S(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 ATCAGGAAGTGAATTTTTCAA 0.393000 40 8 0 0 1 0 0 CKAP5 9793 broad.mit.edu 37 11 46771899 46771899 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:46771899G>A uc001ndi.2 - 41 5755 c.5629C>T c.(5629-5631)Cag>Tag p.Q1877* CKAP5_uc009ylg.1_Nonsense_Mutation_p.Q1770*|CKAP5_uc001ndj.2_Nonsense_Mutation_p.Q1817*|CKAP5_uc001ndh.1_Nonsense_Mutation_p.Q806* NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA. 1877 G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 ACATAGCTCTGGAAGAACTGT 0.428000 23 5 0 0 1 0 0 FUT3 2525 broad.mit.edu 37 19 5844472 5844472 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:5844472G>A uc002mdk.2 - 1 476 c.379C>T c.(379-381)Ccg>Tcg p.P127S FUT3_uc002mdm.2_Missense_Mutation_p.P127S|FUT3_uc002mdj.2_Missense_Mutation_p.P127S|FUT3_uc002mdl.2_Missense_Mutation_p.P127S|FUT3_uc021unn.1_Missense_Mutation_p.P127S NM_001097641 NP_001091110 P21217 FUT3_HUMAN Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA. 127 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 TGCCCCTGCGGCCTCGGGGAA 0.597000 97 19 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135203699 135203699 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:135203699G>A uc004cbk.3 - 9 3469 c.3286C>T c.(3286-3288)Cat>Tat p.H1096Y SETX_uc004cbj.3_Missense_Mutation_p.H715Y|SETX_uc010mzt.3_Missense_Mutation_p.H715Y NM_015046 NP_055861 Q7Z333 SETX_HUMAN Homo sapiens senataxin (SETX), mRNA. 1096 RNA processing|cell death|double-strand break repair cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TCGTCTGGATGATCTTGCCAA 0.358000 25 5 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717897 142717897 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:142717897G>A uc022cfm.1 - 0 1028 c.1028C>T c.(1027-1029)cCg>cTg p.P343L SLITRK4_uc022cfl.1_Missense_Mutation_p.P343L|SLITRK4_uc004fbx.3_Missense_Mutation_p.P343L|SLITRK4_uc004fby.3_Missense_Mutation_p.P343L NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA. 343 LRRNT. integral to membrane p.P343L(2)|p.P343P(1) autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) GCAAGGTGCCGGGCAAGGTGT 0.473000 34 12 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139611123 139611123 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:139611123C>T uc003yvd.3 - 60 4651 c.4204G>A c.(4204-4206)Ggt>Agt p.G1402S COL22A1_uc011ljo.2_Missense_Mutation_p.G682S NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 1402 Collagen-like 14.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity p.G1402V(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCTTTGTCACCTTTGATCCCA 0.577000 HNSCC(7;0.00092) 38 7 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99467231 99467231 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:99467231C>T uc002bul.3 + 11 2662 c.2612C>T c.(2611-2613)tCa>tTa p.S871L IGF1R_uc010bon.3_Missense_Mutation_p.S871L|IGF1R_uc010boo.1_5'Flank NM_000875 NP_000866 P08069 IGF1R_HUMAN Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA. 871 Fibronectin type-III 3. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) AAATACGGATCACAAGTTGAG 0.483000 92 6 0 0 1 0 0 SH3BGR 6450 broad.mit.edu 37 21 40883678 40883678 + Silent SNP G A A rs34106220 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:40883678G>A uc002yya.3 + 5 750 c.696G>A c.(694-696)gaG>gaA p.E232E SH3BGR_uc002yxz.3_Silent_p.E121E NM_007341 NP_001001713 P55822 SH3BG_HUMAN Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA. 232 Glu-rich (acidic). protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) AAGGAGAAGAGCCTGGAGAAG 0.463000 59 20 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232626746 232626746 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:232626746G>A uc001hvg.3 - 2 1838 c.1680C>T c.(1678-1680)acC>acT p.T560T NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA. 560 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GTCCTCGTGCGGTACCATGCC 0.453000 23 4 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49948261 49948261 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:49948261A>G uc001ruh.1 + 10 2320 c.2060A>G c.(2059-2061)gAg>gGg p.E687G KCNH3_uc010smj.1_Missense_Mutation_p.E627G NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA. 687 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity p.E687K(1) NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 CTGTACCCCGAGTTTGCCCCG 0.632000 82 7 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47043209 47043209 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:47043209C>T uc003cqp.3 + 29 4854 c.4675C>T c.(4675-4677)Cgc>Tgc p.R1559C NBEAL2_uc010hjm.2_Missense_Mutation_p.R936C|NBEAL2_uc010hjn.2_5'Flank NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA. 1559 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) CCTACTTGATCGCCTGGGAGC 0.572000 65 11 0 0 1 0 0 RNASEH1 246243 broad.mit.edu 37 2 3597994 3597994 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:3597994T>C uc002qxt.3 - 3 568 c.478A>G c.(478-480)Atc>Gtc p.I160V RNASEH1_uc002qxs.3_Missense_Mutation_p.I43V NM_002936 NP_002927 O60930 RNH1_HUMAN Homo sapiens ribonuclease H1 (RNASEH1), mRNA. 160 RNase H. RNA catabolic process cytoplasm RNA binding|magnesium ion binding|ribonuclease H activity endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 13 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22) TAAACGCCGATTCCTGCTCGC 0.517000 145 15 0 0 1 0 0 TRAPPC9 83696 broad.mit.edu 37 8 140922528 140922528 + Missense_Mutation SNP C T T rs144046998 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:140922528C>T uc003yvh.2 - 19 3136 c.3121G>A c.(3121-3123)Gac>Aac p.D1041N TRAPPC9_uc003yvj.2_Missense_Mutation_p.D943N|TRAPPC9_uc010mel.1_Missense_Mutation_p.D364N|TRAPPC9_uc003yvi.1_Missense_Mutation_p.D934N NM_031466 NP_001153844 Q96Q05 TPPC9_HUMAN Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA. 943 cell differentiation Golgi apparatus|endoplasmic reticulum breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 TTGAACTTGTCCACTTGAATA 0.537000 40 10 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28375694 28375694 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:28375694G>A uc001zbj.3 - 81 12723 c.12617C>T c.(12616-12618)tCc>tTc p.S4206F NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 4206 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AGAAAACTGGGATCCGCATTC 0.423000 164 16 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43435585 43435585 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:43435585G>A uc002lbm.3 - 42 7610 c.7510C>T c.(7510-7512)Cgt>Tgt p.R2504C NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA. 2504 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 GGCCTCAAACGGATCTGATCT 0.483000 36 5 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34924400 34924400 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:34924400C>T uc002yse.1 + 2 2912 c.2863C>T c.(2863-2865)Ccc>Tcc p.P955S SON_uc002ysb.1_Missense_Mutation_p.P955S|SON_uc002ysc.3_Missense_Mutation_p.P955S|SON_uc002ysd.3_Intron|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.P601S|SON_uc002ysg.3_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA. 955 11 X 7 AA tandem repeats of [DR]-P-Y-R- [LI][AG][QHP]. RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 AGGCCATGATCCCTACAGACT 0.483000 72 5 0 0 1 0 0 CERKL 375298 broad.mit.edu 37 2 182403981 182403981 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:182403981G>A uc002unx.3 - 12 1555 c.1454C>T c.(1453-1455)cCa>cTa p.P485L CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.P459L|CERKL_uc010zfm.2_Missense_Mutation_p.P441L|CERKL_uc002unz.3_Missense_Mutation_p.P207L|CERKL_uc002uoa.3_Missense_Mutation_p.P390L|CERKL_uc002uob.3_Missense_Mutation_p.P207L|CERKL_uc002uoc.3_Missense_Mutation_p.P346L|CERKL_uc021vth.1_Missense_Mutation_p.P254L|CERKL_uc021vti.1_Missense_Mutation_p.P207L|CERKL_uc021vtj.1_Missense_Mutation_p.P162L|CERKL_uc021vtk.1_Missense_Mutation_p.P207L|CERKL_uc021vtl.1_Missense_Mutation_p.P162L|CERKL_uc021vtm.1_Missense_Mutation_p.P254L|CERKL_uc002uod.2_Missense_Mutation_p.P254L|CERKL_uc002unw.3_Missense_Mutation_p.P55L NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA. 485 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis Golgi apparatus|endoplasmic reticulum|nucleolus diacylglycerol kinase activity p.E484A(1) NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) CTCAACAAATGGAAAATTGAA 0.353000 9 3 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701885 56701885 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:56701885C>T uc010ygh.2 - 3 799 c.799G>A c.(799-801)Gat>Aat p.D267N NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA. 267 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GTGTCAGCATCCACATTTTCC 0.502000 103 9 0 0 1 0 0 MCM4 4173 broad.mit.edu 37 8 48887386 48887387 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:48887386_48887387CC>TT uc003xqk.2 + 14 3055_3056 c.2229_2230CC>TT c.(2227-2232)gcccat>gcTTat p.H744Y MCM4_uc003xql.2_Missense_Mutation_p.H744Y|MCM4_uc011ldi.2_Missense_Mutation_p.H731Y NM_182746 NP_877423 P33991 MCM4_HUMAN Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA. 744 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) TAGCAGAAGCCCATGCTAAAGT 0.480000 149 22 0 0 1 0 0 STAT4 6775 broad.mit.edu 37 2 191937867 191937867 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:191937867C>T uc002usm.2 - 4 737 c.422G>A c.(421-423)aGg>aAg p.R141K STAT4_uc002usn.2_Missense_Mutation_p.R141K|STAT4_uc002uso.2_Missense_Mutation_p.R141K NM_003151 NP_003142 Q14765 STAT4_HUMAN Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA. 141 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) CTCCACATTCCTCTGTCTTTC 0.388000 64 4 0 0 1 0 0 FAM188A 80013 broad.mit.edu 37 10 15885240 15885240 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:15885240G>A uc001iod.1 - 2 427 c.206C>T c.(205-207)tCg>tTg p.S69L FAM188A_uc001ioe.1_5'UTR NM_024948 NP_079224 Q9H8M7 F188A_HUMAN Homo sapiens family with sequence similarity 188, member A (FAM188A), mRNA. 69 apoptosis nucleus calcium ion binding p.S69S(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 22 AGACTTCTCCGAAGAAAACAG 0.323000 28 5 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122618423 122618423 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:122618423C>T uc001ubq.3 + 8 1729 c.1621C>T c.(1621-1623)Ccc>Tcc p.P541S MLXIP_uc001ubr.3_Missense_Mutation_p.P292S|MLXIP_uc001ubs.1_Missense_Mutation_p.P148S|MLXIP_uc001ubt.3_Missense_Mutation_p.P148S NM_014938 NP_055753 Q9HAP2 MLXIP_HUMAN Homo sapiens MLX interacting protein (MLXIP), mRNA. 541 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) TTTTGTGCACCCCAAACCTGT 0.607000 13 3 0 0 1 0 0 ACSL5 51703 broad.mit.edu 37 10 114169359 114169359 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:114169359C>T uc001kzu.3 + 6 907 c.795C>T c.(793-795)atC>atT p.I265I ACSL5_uc001kzs.3_Silent_p.I209I|ACSL5_uc001kzt.3_Silent_p.I209I|ACSL5_uc009xxz.3_Silent_p.I209I|ACSL5_uc010qrj.2_5'UTR NM_016234 NP_976314 Q9ULC5 ACSL5_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA. 209 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) TGAAGGTGATCATCCTTATGG 0.468000 70 8 0 0 1 0 0 ISLR 3671 broad.mit.edu 37 15 74468145 74468145 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:74468145G>A uc002axg.1 + 1 1228 c.946G>A c.(946-948)Gac>Aac p.D316N ISLR_uc002axh.1_Missense_Mutation_p.D316N|ISLR_uc021sqf.1_Missense_Mutation_p.D316N NM_005545 NP_958934 O14498 ISLR_HUMAN Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA. 316 Ig-like. cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 GCTTATCCCCGACTTTGGCAA 0.662000 62 6 0 0 1 0 0 ZNF827 152485 broad.mit.edu 37 4 146824107 146824107 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:146824107A>T uc003ikn.3 - 1 352 c.304T>A c.(304-306)Tcc>Acc p.S102T ZNF827_uc003ikm.3_Missense_Mutation_p.S102T|ZNF827_uc010iox.3_Intron NM_178835 NP_849157 Q17R98 ZN827_HUMAN Homo sapiens zinc finger protein 827 (ZNF827), mRNA. 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) ACTCCCGGGGAAAGGTGATCT 0.587000 45 7 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9068506 9068506 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9068506C>T uc002mkp.3 - 2 19144 c.18940G>A c.(18940-18942)Gaa>Aaa p.E6314K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6316 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAATAGAATTCATTTGGTGAA 0.463000 42 11 0 0 1 0 0 ABCD1 215 broad.mit.edu 37 X 152994743 152994743 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:152994743C>T uc004fif.2 + 1 1356 c.957C>T c.(955-957)ctC>ctT p.L319L NM_000033 NP_000024 P33897 ABCD1_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA. 319 ABC transmembrane type-1. fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGATCAACCTCATCCTTCTGG 0.597000 32 19 0 0 1 0 0 SLC13A5 284111 broad.mit.edu 37 17 6599243 6599243 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:6599243C>T uc002gdj.3 - 6 945 c.857G>A c.(856-858)gGc>gAc p.G286D SLC13A5_uc010clq.3_Missense_Mutation_p.G243D|SLC13A5_uc002gdk.3_Missense_Mutation_p.G269D|SLC13A5_uc010vtf.2_Missense_Mutation_p.G286D|SLC13A5_uc002gdl.1_Missense_Mutation_p.G268D NM_177550 NP_808218 Q86YT5 S13A5_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA. 286 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 TAGCCCGCAGCCCCAGGACTT 0.552000 88 5 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61941176 61941176 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:61941176C>T uc011aau.2 + 9 1272 c.1172C>T c.(1171-1173)tCc>tTc p.S391F COL20A1_uc011aav.2_Missense_Mutation_p.S212F NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 391 Fibronectin type-III 2. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) GTGACCTCCTCCAGCATCCGC 0.692000 OREG0026127 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 3 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228563820 228563820 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:228563820G>A uc009xez.1 + 98 22942 c.22898G>A c.(22897-22899)gGa>gAa p.G7633E OBSCN_uc001hsr.1_Missense_Mutation_p.G2262E NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 7633 Fibronectin type-III 4. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGCAAGGCAGGAATGGGTCCC 0.642000 58 8 0 0 1 0 0 PDE1A 5136 broad.mit.edu 37 2 183387049 183387049 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:183387049G>A uc002uos.3 - 1 139 c.55C>T c.(55-57)Ctt>Ttt p.L19F PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.L19F|PDE1A_uc010zfq.1_Missense_Mutation_p.L19F|PDE1A_uc002uov.1_Non-coding_Transcript NM_001003683 NP_001003683 P54750 PDE1A_HUMAN Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA. 19 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TCTCCTGTAAGATACTTAAAA 0.403000 20 3 0 0 1 0 0 NOS3 4846 broad.mit.edu 37 7 150696053 150696053 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:150696053G>A uc003wif.3 + 7 1132 c.836G>A c.(835-837)tGg>tAg p.W279* NOS3_uc011kuy.2_Nonsense_Mutation_p.W73*|NOS3_uc011kva.2_Nonsense_Mutation_p.W279*|NOS3_uc011kuz.2_Nonsense_Mutation_p.W279*|NOS3_uc011kvb.2_Nonsense_Mutation_p.W279* NM_000603 NP_000594 P29474 NOS3_HUMAN Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA. 279 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia Golgi membrane|caveola|cytoskeleton|cytosol FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CAGCACGGCTGGACCCCAGGA 0.657000 41 7 0 0 1 0 0 TCL1A 8115 broad.mit.edu 37 14 96178610 96178610 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:96178610C>T uc001yfc.4 - 1 374 c.244G>A c.(244-246)Gga>Aga p.G82R TCL1A_uc001yfb.4_Missense_Mutation_p.G82R NM_001098725 NP_068801 P56279 TCL1A_HUMAN Homo sapiens T-cell leukemia/lymphoma 1A (TCL1A), transcript variant 2, mRNA. 82 multicellular organismal development endoplasmic reticulum|microsome haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) CGGTATCGTCCATCAGGGTAG 0.577000 T TRA@ T-CLL 133 11 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47925486 47925486 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:47925486G>A uc003tny.2 - 17 3037 c.3003C>T c.(3001-3003)gcC>gcT p.A1001A NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 1001 REJ. cell-cell adhesion integral to membrane p.P1000S(1) BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GAGCTGAAGTGGCAGGTTGGC 0.602000 84 6 0 0 1 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39915501 39915501 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:39915501C>T uc010xuz.2 + 18 4053 c.3728C>T c.(3727-3729)tCc>tTc p.S1243F PLEKHG2_uc010xuy.2_Missense_Mutation_p.S1184F|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.S1021F NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA. 1243 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CCAGGAGGCTCCTTAGCCTCT 0.587000 164 20 0 0 1 0 0 DHX16 8449 broad.mit.edu 37 6 30624281 30624281 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:30624281G>A uc003nqz.3 - 14 2529 c.2317C>T c.(2317-2319)Cat>Tat p.H773Y DHX16_uc003nqy.3_Missense_Mutation_p.H292Y|DHX16_uc011dmo.2_Missense_Mutation_p.H713Y NM_003587 NP_003578 O60231 DHX16_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA. 773 RNA splicing|mRNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding kidney(2)|ovary(2) 4 ATTAGGTCATGGATCCCTAGA 0.537000 52 7 0 0 1 0 0 TCN2 6948 broad.mit.edu 37 22 31018985 31018985 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:31018985C>T uc003aip.2 + 7 1386 c.1137C>T c.(1135-1137)ccC>ccT p.P379P TCN2_uc003air.2_Silent_p.P352P NM_000355 NP_000346 P20062 TCO2_HUMAN Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA. 379 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1) 22 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGTCAGGCCCCTACTTAACCT 0.567000 78 6 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12542270 12542270 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:12542270G>A uc002mtu.3 - 3 914 c.716C>T c.(715-717)tCc>tTc p.S239F NM_005815 NP_005806 Q9Y2A4 ZN443_HUMAN Homo sapiens zinc finger protein 443 (ZNF443), mRNA. 239 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S239P(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 TCTTAGATAGGAACTGTAAAA 0.358000 84 11 0 0 1 0 0 ZBTB2 57621 broad.mit.edu 37 6 151687921 151687921 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:151687921G>A uc003qoh.3 - 2 415 c.280C>T c.(280-282)Cga>Tga p.R94* NM_020861 NP_065912 Q8N680 ZBTB2_HUMAN Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA. 94 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) TGTTCTAATCGAACCGGGTCG 0.537000 110 8 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27301785 27301785 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:27301785C>T uc003xfn.2 + 27 3019 c.2211C>T c.(2209-2211)ttC>ttT p.F737F PTK2B_uc022ate.1_Silent_p.F737F|PTK2B_uc003xfp.2_Silent_p.F737F|PTK2B_uc003xfq.2_Silent_p.F737F|PTK2B_uc003xfr.1_Silent_p.F483F NM_173174 NP_775268 Q14289 FAK2_HUMAN Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA. 737 Pro-rich. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) AGCTGCAGTTCCAGGTAAAGA 0.547000 51 5 0 0 1 0 0 C3orf23 285343 broad.mit.edu 37 3 44408953 44408953 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:44408953C>T uc003cnd.4 + 4 752 c.325C>T c.(325-327)Cga>Tga p.R109* C3orf23_uc010him.3_Nonsense_Mutation_p.R109*|C3orf23_uc003cne.4_Intron NM_173826 NP_776187 Q8N3R3 CC023_HUMAN Homo sapiens chromosome 3 open reading frame 23 (C3orf23), transcript variant 1, mRNA. 109 mitochondrion breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) TCTAGGATTTCGAGCAGTCAA 0.303000 28 5 0 0 1 0 0 ZNF323 64288 broad.mit.edu 37 6 28294165 28294165 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:28294165G>A uc003nlc.3 - 3 1388 c.999C>T c.(997-999)ctC>ctT p.L333L ZNF323_uc003nld.3_Silent_p.L333L|ZNF323_uc010jra.3_Silent_p.L333L|ZNF323_uc003nla.3_Silent_p.L333L|ZNF323_uc003nlb.3_Silent_p.L174L|ZNF323_uc010jrb.3_Silent_p.L174L|ZNF323_uc021yrs.1_Silent_p.L333L|ZNF323_uc021yrt.1_Silent_p.L174L NM_030899 NP_001230173 Q96LW9 ZN323_HUMAN Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA. 333 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1) 27 ATGAGCTGAGGAGGAAAGCCT 0.502000 126 7 0 0 1 0 0 MTDH 92140 broad.mit.edu 37 8 98718853 98718853 + Splice_Site SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:98718853G>T uc003yhz.3 + 8 1476 c.1148_splice c.e8-1 p.N383_splice MTDH_uc010mbf.3_Splice_Site NM_178812 NP_848927 Q86UE4 LYRIC_HUMAN Homo sapiens metadherin (MTDH), mRNA. 383 Lung-homing for mammary tumors (By similarity). lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) TTAAATTTTAGATGGTCTGTC 0.373000 48 4 0.150653 0.151351 1 1 0 ITK 3702 broad.mit.edu 37 5 156644904 156644904 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:156644904C>T uc003lwo.1 + 4 564 c.482C>T c.(481-483)cCt>cTt p.P161L NM_005546 NP_005537 Q08881 ITK_HUMAN Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA. 161 T cell receptor signaling pathway|cellular defense response|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.P161S(1) breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTCCTACTCCTGAAGACAAC 0.507000 T SYK peripheral T-cell lymphoma 173 29 0 0 1 0 0 MMS22L 253714 broad.mit.edu 37 6 97679323 97679323 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:97679323G>A uc003ppb.3 - 12 1774 c.1508C>T c.(1507-1509)cCt>cTt p.P503L MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Missense_Mutation_p.P463L|MMS22L_uc010kcn.1_Missense_Mutation_p.P277L NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA. 503 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 TTGTTTCCAAGGATGAGGGCC 0.343000 24 3 0 0 1 0 0 PDIA6 10130 broad.mit.edu 37 2 10929932 10929932 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:10929932G>A uc002rau.3 - 7 921 c.783C>T c.(781-783)atC>atT p.I261I PDIA6_uc010yjg.2_Silent_p.I258I|PDIA6_uc002rav.3_Silent_p.I313I|PDIA6_uc010yjh.2_Silent_p.I266I|PDIA6_uc002raw.3_Silent_p.I309I NM_005742 NP_005733 Q15084 PDIA6_HUMAN Homo sapiens protein disulfide isomerase family A, member 6 (PDIA6), mRNA. 261 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|protein folding ER-Golgi intermediate compartment|endoplasmic reticulum lumen|melanosome|plasma membrane electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2) 18 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15) CCCGGGACACGATGTCGGATC 0.453000 67 8 0 0 1 0 0 C1orf51 148523 broad.mit.edu 37 1 150259208 150259208 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:150259208C>T uc001euj.3 + 4 1449 c.1000C>T c.(1000-1002)Cgt>Tgt p.R334C C1orf51_uc001euh.3_Missense_Mutation_p.R334C|C1orf51_uc001eui.3_Missense_Mutation_p.R246C NM_144697 NP_653298 Q8N365 CA051_HUMAN Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA. 334 endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) AGAGGGTCCTCGTTGCTACAG 0.552000 95 14 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7177809 7177809 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:7177809C>T uc001qsj.3 + 14 2640 c.1921C>T c.(1921-1923)Ccc>Tcc p.P641S C1S_uc001qsk.3_Missense_Mutation_p.P641S|C1S_uc001qsl.3_Missense_Mutation_p.P641S|C1S_uc009zfr.3_Missense_Mutation_p.P474S|C1S_uc009zfs.3_Non-coding_Transcript NM_201442 NP_958850 P09871 C1S_HUMAN Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA. 641 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TGTACAGGATCCCAATGACAA 0.532000 113 20 0 0 1 0 0 AARS2 57505 broad.mit.edu 37 6 44269121 44269121 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:44269121G>A uc010jza.1 - 19 2682 c.2679C>T c.(2677-2679)ctC>ctT p.L893L TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA. 893 alanyl-tRNA aminoacylation mitochondrion ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CACTCACTGAGAGAGACTCAG 0.602000 166 9 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107415744 107415744 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:107415744C>T uc004enw.4 - 31 3263 c.3160G>A c.(3160-3162)Ggg>Agg p.G1054R COL4A6_uc004env.4_Missense_Mutation_p.G1053R|COL4A6_uc011msn.2_Missense_Mutation_p.G1053R|COL4A6_uc010npk.3_Missense_Mutation_p.G1053R NM_001847 NP_001838 Q14031 CO4A6_HUMAN Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA. 1054 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 CCAGGCGACCCTCTGATACCT 0.488000 Alport syndrome with Diffuse Leiomyomatosis 62 13 0 0 1 0 0 ARGFX 503582 broad.mit.edu 37 3 121305240 121305240 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:121305240C>T uc003eef.3 + 4 836 c.741C>T c.(739-741)ttC>ttT p.F247F NM_001012659 NP_001012677 A6NJG6 ARGFX_HUMAN Homo sapiens arginine-fifty homeobox (ARGFX), mRNA. 247 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) GCTCTTCTTTCCACTGTCTGT 0.468000 53 5 0 0 1 0 0 C16orf70 80262 broad.mit.edu 37 16 67168357 67168357 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:67168357C>T uc002erd.3 + 7 812 c.648C>T c.(646-648)cgC>cgT p.R216R C16orf70_uc002erc.3_Silent_p.R216R|C16orf70_uc002ere.1_3'UTR NM_025187 NP_079463 Q9BSU1 CP070_HUMAN Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA. 216 cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) TACGACTTCGCCTACTTGCTG 0.502000 133 15 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25464920 25464920 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:25464920T>A uc001isj.3 + 0 631 c.571T>A c.(571-573)Ttc>Atc p.F191I LOC100128811_uc010qde.1_Missense_Mutation_p.K11M NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 191 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CCCACAGGTCTTCCTCCAGGC 0.682000 20 8 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64636703 64636703 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:64636703C>T uc003dmg.3 - 8 1485 c.1453G>A c.(1453-1455)Gag>Aag p.E485K ADAMTS9_uc011bfo.2_Missense_Mutation_p.E457K|ADAMTS9_uc003dmh.1_Missense_Mutation_p.E314K|ADAMTS9_uc003dmk.1_Missense_Mutation_p.E485K NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA. 485 Peptidase M12B. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TCTAAAAACTCAGTGATATAT 0.408000 250 15 0 0 1 0 0 PION 54103 broad.mit.edu 37 7 76940676 76940676 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:76940676C>T uc003ugf.3 - 30 2643 c.2564G>A c.(2563-2565)tGa>tAa p.*855* PION_uc011kgo.2_Silent_p.*176*|PION_uc003ugd.3_Silent_p.*249* NM_017439 NP_059135 A4D1B5 GSAP_HUMAN Homo sapiens pigeon homolog (Drosophila) (PION), mRNA. 0 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TTTTCTTTTTCATAAGCCTAA 0.368000 37 5 0 0 1 0 0 AKT2 208 broad.mit.edu 37 19 40739804 40739804 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:40739804G>A uc002onf.3 - 13 1720 c.1421C>T c.(1420-1422)tCc>tTc p.S474F AKT2_uc010egs.3_Missense_Mutation_p.S431F|AKT2_uc010xvj.2_Missense_Mutation_p.S412F|AKT2_uc010egt.3_Missense_Mutation_p.S412F|AKT2_uc002one.3_Missense_Mutation_p.S370F NM_001626 NP_001229957 P31751 AKT2_HUMAN Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA. 474 AGC-kinase C-terminal. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) GGCCGAGTAGGAGAACTGGGG 0.622000 A """ovarian, pancreatic """ 39 5 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48808502 48808502 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:48808502G>A uc001zwx.2 - 10 1600 c.1205C>T c.(1204-1206)cCt>cTt p.P402L NM_000138 NP_000129 P35555 FBN1_HUMAN Homo sapiens fibrillin 1 (FBN1), mRNA. 402 Pro-rich. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GGGTGGGGGAGGATATTCTGG 0.502000 33 4 0 0 1 0 0 SLCO4A1 28231 broad.mit.edu 37 20 61296383 61296383 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:61296383C>T uc002ydb.1 + 5 1424 c.1219C>T c.(1219-1221)Ccc>Tcc p.P407S LOC100127888_uc002ydd.3_Non-coding_Transcript|SLCO4A1_uc002yde.1_5'Flank NM_016354 NP_057438 Q96BD0 SO4A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA. 407 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) CACGTTCAGCCCCAAGTTCTT 0.572000 130 17 0 0 1 0 0 HOXA5 3202 broad.mit.edu 37 7 27181643 27181643 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:27181643C>T uc003syn.2 - 1 685 c.624G>A c.(622-624)ctG>ctA p.L208L HOXA-AS3_uc003syr.2_Intron NM_019102 NP_061975 P20719 HXA5_HUMAN Homo sapiens homeobox A5 (HOXA5), mRNA. 208 negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1) 16 TCTCCAGCTCCAGGGTCTGGT 0.532000 OREG0017911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 15 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77817214 77817214 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:77817214C>T uc003hki.3 - 0 1789 c.1789G>A c.(1789-1791)Gag>Aag p.E597K NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA. 597 CACTCATGCTCCCTGGCATCT 0.567000 41 10 0 0 1 0 0 SH3GL3 6457 broad.mit.edu 37 15 84287021 84287021 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:84287021C>T uc002bjw.3 + 8 1221 c.1026C>T c.(1024-1026)atC>atT p.I342I SH3GL3_uc002bjx.3_Silent_p.I273I|SH3GL3_uc002bju.3_Silent_p.I350I|SH3GL3_uc002bjv.3_Non-coding_Transcript NM_003027 NP_003018 Q99963 SH3G3_HUMAN Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA. 342 SH3. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 TGGAAGTGATCGTGCCTTTAC 0.408000 44 4 0 0 1 0 0 KCNK16 83795 broad.mit.edu 37 6 39282993 39282993 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:39282993G>A uc003oor.4 - 4 890 c.876C>T c.(874-876)ctC>ctT p.L292L KCNK17_uc003oop.3_5'Flank|KCNK17_uc003ooo.3_5'Flank|KCNK16_uc003ooq.3_Intron|KCNK16_uc010jwy.3_Intron NM_001135105 NP_001128577 Q96T55 KCNKG_HUMAN Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA. 0 integral to membrane potassium channel activity|voltage-gated ion channel activity large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 CCCCGGGATGGAGTGGTCTAA 0.567000 22 4 0 0 1 0 0 GALNT6 11226 broad.mit.edu 37 12 51758013 51758013 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:51758013C>T uc001ryk.2 - 4 1166 c.941G>A c.(940-942)aGg>aAg p.R314K GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.R314K NM_007210 NP_009141 Q8NCL4 GALT6_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA. 314 protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GACTCTGCCCCTCTGGACGGG 0.562000 49 4 0 0 1 0 0 PROL1 58503 broad.mit.edu 37 4 71275548 71275548 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:71275548C>T uc003hfi.3 + 2 677 c.503C>T c.(502-504)tCc>tTc p.S168F NM_021225 NP_067048 Q99935 PROL1_HUMAN Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA. 168 Thr-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) ACCAGCACTTCCACAAAACCC 0.512000 39 4 0 0 1 0 0 HYOU1 10525 broad.mit.edu 37 11 118925730 118925730 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:118925730G>A uc001puu.2 - 5 655 c.462C>T c.(460-462)ctC>ctT p.L154L HYOU1_uc001put.2_Silent_p.L119L|HYOU1_uc010ryu.1_Silent_p.L174L|HYOU1_uc010ryv.1_Silent_p.L43L|HYOU1_uc001pux.3_Silent_p.L154L|HYOU1_uc010ryw.2_Non-coding_Transcript|HYOU1_uc001puw.1_Silent_p.L154L NM_006389 NP_006380 Q9Y4L1 HYOU1_HUMAN Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA. 154 endoplasmic reticulum lumen ATP binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) GAGAATAATTGAGAACCATGC 0.532000 51 5 0 0 1 0 0 WDR92 116143 broad.mit.edu 37 2 68364490 68364491 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:68364490_68364491GG>AA uc002see.1 - 5 789_790 c.708_709CC>TT c.(706-711)ttccat>ttTTat p.H237Y WDR92_uc002sed.1_Non-coding_Transcript|WDR92_uc002sef.1_Missense_Mutation_p.H237Y|WDR92_uc002seg.1_Missense_Mutation_p.H136Y NM_138458 NP_612467 Q96MX6 WDR92_HUMAN Homo sapiens WD repeat domain 92 (WDR92), mRNA. 237 apoptosis|histone lysine methylation methylated histone residue binding endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1) 12 TCAAAAACATGGAACTTTCCTT 0.356000 40 4 0 0 1 0 0 SLC27A2 11001 broad.mit.edu 37 15 50497454 50497454 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:50497454G>A uc001zxw.3 + 3 1098 c.866G>A c.(865-867)cGg>cAg p.R289Q SLC27A2_uc010bes.3_Missense_Mutation_p.R236Q|SLC27A2_uc001zxx.3_Missense_Mutation_p.R54Q NM_003645 NP_003636 O14975 S27A2_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA. 289 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) CTTGCCTTGCGGACTAAATTT 0.398000 50 11 0 0 1 0 0 ERGIC3 51614 broad.mit.edu 37 20 34145016 34145016 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:34145016C>T uc002xcs.3 + 12 1152 c.1083C>T c.(1081-1083)ttC>ttT p.F361F ERGIC3_uc002xct.3_Silent_p.F356F NM_198398 NP_938408 Q9Y282 ERGI3_HUMAN Homo sapiens ERGIC and golgi 3 (ERGIC3), transcript variant 1, mRNA. 356 vesicle-mediated transport ER-Golgi intermediate compartment membrane|Golgi apparatus|endoplasmic reticulum membrane|integral to membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1) 16 Lung NSC(9;0.00489)|all_lung(11;0.00729) BRCA - Breast invasive adenocarcinoma(18;0.0127) GGGGCATGTTCACAGGTAAGA 0.632000 122 11 0 0 1 0 0 PIPOX 51268 broad.mit.edu 37 17 27381694 27381694 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:27381694C>T uc002hdr.1 + 4 1118 c.792C>T c.(790-792)taC>taT p.Y264Y NM_016518 NP_057602 Q9P0Z9 SOX_HUMAN Homo sapiens pipecolic acid oxidase (PIPOX), mRNA. 264 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) CAGGAGAGTACCCAGGGCTGA 0.567000 52 13 0 0 1 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74957862 74957863 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:74957862_74957863CC>TT uc001dge.2 + 24 2633_2634 c.2566_2567CC>TT c.(2566-2568)cct>TTt p.P856F FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.P755F NM_001112808 NP_001106279 Q59H18 TNI3K_HUMAN Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA. 755 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding CCGGGGAGGACCTGGCCGGAGT 0.500000 51 18 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40668752 40668752 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:40668752C>T uc001rmg.4 + 15 2019 c.1898C>T c.(1897-1899)tCc>tTc p.S633F LRRK2_uc001rmh.1_Missense_Mutation_p.S255F NM_198578 NP_940980 Q5S007 LRRK2_HUMAN Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA. 633 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) ATTCTGGTTTCCAGCTTATAC 0.368000 13 3 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913531 77913531 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:77913531G>A uc022bzi.1 - 0 387 c.387C>T c.(385-387)gcC>gcT p.A129A ZCCHC5_uc004edc.1_Silent_p.A129A NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA. 129 Pro-rich. nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 GGATCTCATGGGCCATTGGAG 0.632000 8 4 0 0 1 0 0 ADCY3 109 broad.mit.edu 37 2 25064518 25064518 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:25064518G>A uc010ykm.2 - 3 1174 c.975C>T c.(973-975)atC>atT p.I325I ADCY3_uc002rfr.4_5'UTR|ADCY3_uc002rfs.4_Silent_p.I325I NM_004036 NP_004027 O60266 ADCY3_HUMAN Homo sapiens adenylate cyclase 3 (ADCY3), mRNA. 325 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) TAAAGCCCACGATGTCGGCAA 0.602000 30 13 0 0 1 0 0 AMPD1 270 broad.mit.edu 37 1 115219992 115219992 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:115219992C>T uc001efe.2 - 9 1515 c.1467G>A c.(1465-1467)atG>atA p.M489I AMPD1_uc001eff.2_Missense_Mutation_p.M485I NM_000036 NP_000027 P23109 AMPD1_HUMAN Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA. 456 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) GAACCTGGATCATCCATGTCA 0.537000 57 5 0 0 1 0 0 PLS1 5357 broad.mit.edu 37 3 142403006 142403006 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:142403006G>A uc010huv.3 + 6 897 c.738G>A c.(736-738)agG>agA p.R246R PLS1_uc003euz.3_Silent_p.R246R|PLS1_uc003eva.3_Silent_p.R246R NM_001145319 NP_002661 Q14651 PLSI_HUMAN Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA. 246 Actin-binding 1. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 27 AGATTTCCAGGAATGAAGGTA 0.398000 67 5 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76874015 76874015 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:76874015C>T uc001oyb.2 + 13 1943 c.1671C>T c.(1669-1671)atC>atT p.I557I MYO7A_uc010rsl.2_Silent_p.I557I|MYO7A_uc010rsm.1_Silent_p.I546I|MYO7A_uc001oyc.2_Silent_p.I557I NM_000260 NP_000251 Q13402 MYO7A_HUMAN Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA. 557 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse ATP binding|actin binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TTGCAGGCATCGTCTACTATG 0.557000 129 6 0 0 1 0 0 SOX30 11063 broad.mit.edu 37 5 157053512 157053512 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:157053512G>A uc003lxb.1 - 4 2440 c.2098C>T c.(2098-2100)Cat>Tat p.H700Y SOX30_uc003lxc.1_3'UTR|SOX30_uc011dds.1_Missense_Mutation_p.H395Y NM_178424 NP_848511 O94993 SOX30_HUMAN Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA. 700 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGTGGCTATGACTGTTATAG 0.423000 21 4 0 0 1 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307657 39307657 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:39307657C>T uc021wwc.1 - 1 480 c.440G>A c.(439-441)gGa>gAa p.G147E CX3CR1_uc021wwa.1_Missense_Mutation_p.G115E|CX3CR1_uc021wwb.1_Missense_Mutation_p.G115E|CX3CR1_uc003cjl.3_Missense_Mutation_p.G115E|CX3CR1_uc021wwd.1_Missense_Mutation_p.G115E NM_001171174 NP_001164645 P49238 CX3C1_HUMAN Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA. 115 V -> I (in dbSNP:rs3732380). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) GAATATGCTTCCAAAAAAGCC 0.502000 72 5 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57176859 57176859 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:57176859C>T uc003hbk.2 + 5 704 c.313C>T c.(313-315)Cct>Tct p.P105S KIAA1211_uc010iha.2_Missense_Mutation_p.P98S|KIAA1211_uc011bzz.1_Missense_Mutation_p.P15S|KIAA1211_uc003hbl.3_Non-coding_Transcript|KIAA1211_uc003hbm.1_5'UTR NM_020722 NP_065773 Q6ZU35 K1211_HUMAN Homo sapiens KIAA1211 (KIAA1211), mRNA. 105 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) TTCTCTAAGTCCTCTGAATCT 0.428000 46 7 0 0 1 0 0 ZNF585A 199704 broad.mit.edu 37 19 37643417 37643417 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:37643417C>T uc002ofo.1 - 4 1615 c.1384G>A c.(1384-1386)Gga>Aga p.G462R ZNF585A_uc002ofm.1_Missense_Mutation_p.G407R|ZNF585A_uc002ofn.1_Missense_Mutation_p.G407R NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA. 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGCTTTTCTCCTGTGTGAATT 0.383000 79 11 0 0 1 0 0 NOX5 79400 broad.mit.edu 37 15 69320665 69320665 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:69320665G>A uc002ars.2 + 2 326 c.285G>A c.(283-285)atG>atA p.M95I MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.M77I|NOX5_uc002arp.2_Missense_Mutation_p.M77I|NOX5_uc010bid.2_Missense_Mutation_p.M88I|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Missense_Mutation_p.M95I NM_024505 NP_078781 Q96PH1 NOX5_HUMAN Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA. 95 EF-hand 3; atypical; contains an insert of 28 residues.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity p.Q95*(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 GCAGCCCCATGGACAAACTCA 0.557000 123 10 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180056392 180056392 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:180056392G>A uc003mlz.4 - 6 931 c.852C>T c.(850-852)tcC>tcT p.S284S FLT4_uc003mma.4_Silent_p.S284S|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.2_Silent_p.S284S|FLT4_uc011dgz.1_Intron NM_182925 NP_891555 P35916 VGFR3_HUMAN Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA. 284 Ig-like C2-type 3. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GGGTCTGCTGGGAGCGTCGCT 0.662000 66 4 0 0 1 0 0 PCDHB15 56121 broad.mit.edu 37 5 140626178 140626178 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140626178C>T uc003lje.3 + 0 1032 c.1032C>T c.(1030-1032)ttC>ttT p.F344F NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN Homo sapiens protocadherin beta 15 (PCDHB15), mRNA. 344 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACGATAACTTCCCGGAACTAA 0.458000 63 4 0 0 1 0 0 RAB5C 5878 broad.mit.edu 37 17 40280676 40280676 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:40280676G>A uc010cxx.3 - 3 765 c.408C>T c.(406-408)atC>atT p.I136I RAB5C_uc002hyz.3_Silent_p.I103I|RAB5C_uc002hza.3_Silent_p.I103I NM_001252039 NP_001238968 P51148 RAB5C_HUMAN Homo sapiens RAB5C, member RAS oncogene family (RAB5C), transcript variant 3, mRNA. 103 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GTP binding|GTPase activity|protein binding large_intestine(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) CTGTGTTGGTGATGTCATAGA 0.527000 92 9 0 0 1 0 0 HRASLS2 54979 broad.mit.edu 37 11 63327659 63327659 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:63327659G>A uc001nxg.1 - 1 75 c.16C>T c.(16-18)Cca>Tca p.P6S NM_017878 NP_060348 Q9NWW9 HRSL2_HUMAN Homo sapiens HRAS-like suppressor 2 (HRASLS2), mRNA. 6 lipid catabolic process cytoplasm acyltransferase activity|hydrolase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 CTCGGTCTTGGTCTGGCCTGC 0.557000 113 9 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3236010 3236010 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:3236010C>T uc004crg.4 - 5 5869 c.5712G>A c.(5710-5712)cgG>cgA p.R1904R NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1904 Ig-like C2-type 3. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GAACCTCAAACCGTTGTATCC 0.473000 20 4 0 0 1 0 0 SLMAP 7871 broad.mit.edu 37 3 57835523 57835523 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:57835523C>T uc003dje.1 + 4 704 c.499C>T c.(499-501)Cag>Tag p.Q167* SLMAP_uc003djc.1_Nonsense_Mutation_p.Q167*|SLMAP_uc003djd.1_Nonsense_Mutation_p.Q167*|SLMAP_uc003djf.1_Nonsense_Mutation_p.Q167* NM_007159 NP_009090 Q14BN4 SLMAP_HUMAN Homo sapiens sarcolemma associated protein (SLMAP), mRNA. 167 muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) GGAACTATTCCAGCTTTCTCA 0.333000 119 9 0 0 1 0 0 AKR7A3 22977 broad.mit.edu 37 1 19610571 19610571 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:19610571G>A uc001bbv.1 - 5 830 c.753C>T c.(751-753)gcC>gcT p.A251A NM_012067 NP_036199 O95154 ARK73_HUMAN Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA. 251 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2) 13 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CGGCCTGCAGGGCCTTCTCCA 0.647000 63 8 0 0 1 0 0 CCT2 10576 broad.mit.edu 37 12 69983283 69983283 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:69983283C>T uc001svb.1 + 6 559 c.465C>T c.(463-465)ttC>ttT p.F155F CCT2_uc010stl.1_Silent_p.F108F NM_006431 NP_001185771 P78371 TCPB_HUMAN Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA. 155 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1) 24 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) AAGTTAAATTCCGTCAAGATT 0.303000 25 4 0 0 1 0 0 DPF2 5977 broad.mit.edu 37 11 65119203 65119203 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:65119203C>T uc001odm.3 + 10 1282 c.1149C>T c.(1147-1149)tcC>tcT p.S383S DPF2_uc010roe.2_Silent_p.S199S NM_006268 NP_006259 Q92785 REQU_HUMAN Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA. 383 apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1) 23 AGAAAGCTTCCATCTACCAGA 0.517000 89 11 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87591016 87591016 + Silent SNP C T T rs142347723 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:87591016C>T uc003ydx.3 - 16 2052 c.2004G>A c.(2002-2004)ccG>ccA p.P668P CNGB3_uc010maj.3_Silent_p.P525P NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 668 signal transduction|visual perception integral to membrane cGMP binding p.P668P(2) NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 TCTCTTCTTTCGGTGGGAAGA 0.473000 46 11 0 0 1 0 0 SKIV2L 6499 broad.mit.edu 37 6 31932101 31932101 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31932101C>T uc003nyn.1 + 16 2342 c.1953C>T c.(1951-1953)ttC>ttT p.F651F SKIV2L_uc011dou.1_Silent_p.F493F|SKIV2L_uc011dov.1_Silent_p.F458F NM_006929 NP_008860 Q15477 SKIV2_HUMAN Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA. 651 Helicase C-terminal. nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 AGATGCTCTTCAGCCGTGGCC 0.607000 244 15 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102738913 102738913 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:102738913G>A uc001krw.2 + 7 1252 c.868G>A c.(868-870)Gcc>Acc p.A290T SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc010qpt.1_Missense_Mutation_p.A290T|SEMA4G_uc001krx.3_Missense_Mutation_p.A290T|MRPL43_uc001kry.1_3'UTR|MRPL43_uc010qpu.1_3'UTR NM_017893 NP_060363 Q9NTN9 SEM4G_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA. 290 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) CTTCCTGAAAGCCCGTCTCAT 0.567000 67 13 0 0 1 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39427845 39427845 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:39427845C>T uc003awt.4 + 5 1316 c.909C>T c.(907-909)ttC>ttT p.F303F APOBEC3D_uc010gxu.3_Silent_p.F99F|APOBEC3D_uc003awu.4_Silent_p.F119F NM_152426 NP_689639 Q96AK3 ABC3D_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA. 303 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) TGGCCGAGTTCCTGGCCAGGC 0.572000 81 11 0 0 1 0 0 TTC39C 125488 broad.mit.edu 37 18 21703848 21703848 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:21703848G>A uc002kuw.3 + 8 1689 c.1237G>A c.(1237-1239)Gaa>Aaa p.E413K TTC39C_uc002kuu.3_Missense_Mutation_p.E352K NM_001135993 NP_694943 Q8N584 TT39C_HUMAN Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA. 413 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 TGTCTTTAAAGAAGTTCAGAA 0.383000 17 3 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224643 248224643 + Silent SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:248224643T>C uc001idx.1 + 0 660 c.660T>C c.(658-660)gtT>gtC p.V220V OR2L13_uc001ids.3_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA. 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V220G(1) cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ATGGCCGGGTTCTCCTTGCTG 0.493000 54 9 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55141026 55141026 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:55141026C>T uc003han.4 + 11 2003 c.1672C>T c.(1672-1674)Cgc>Tgc p.R558C PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.R452C|PDGFRA_uc003ham.2_Non-coding_Transcript|PDGFRA_uc003hao.1_5'Flank NM_006206 NP_006197 P16234 PGFRA_HUMAN Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA. 558 cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.(552_596)?(5) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GTATGAAATTCGCTGGAGGGT 0.463000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 47 4 0 0 1 0 0 RAB10 10890 broad.mit.edu 37 2 26257559 26257559 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:26257559C>T uc002rgv.3 + 0 831 c.82C>T c.(82-84)Cgt>Tgt p.R28C NM_016131 NP_057215 P61026 RAB10_HUMAN Homo sapiens RAB10, member RAS oncogene family (RAB10), mRNA. 28 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|protein binding lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGTCCTTTTTCGTTTTTCGGA 0.522000 121 41 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5457803 5457803 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:5457803C>T uc003jdm.4 + 11 1272 c.1050C>T c.(1048-1050)ccC>ccT p.P350P NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN Homo sapiens KIAA0947 (KIAA0947), mRNA. 350 Pro-rich. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 TGCCCTCGCCCCCTCCGATGT 0.448000 173 24 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6243370 6243370 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:6243370C>T uc002kmz.4 - 6 543 c.383G>A c.(382-384)tGg>tAg p.W128* L3MBTL4_uc002kmy.4_Nonsense_Mutation_p.W128*|L3MBTL4_uc010dkt.3_Nonsense_Mutation_p.W128* NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA. 128 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding p.W128_T129>*(1)|p.W128*(1) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) AGCATTGGTCCAAAAATCATA 0.388000 53 5 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173526555 173526556 + Missense_Mutation DNP AT TC TC TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:173526555_173526556AT>TC uc001giz.2 - 9 1561_1562 c.1138_1139AT>GA c.(1138-1140)att>GAt p.I380D SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 380 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity AACTCCTTTAATTCCAGACCAC 0.376000 119 7 0 0 1 0 0 BAZ1B 9031 broad.mit.edu 37 7 72892855 72892855 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:72892855G>A uc003tyc.3 - 6 1288 c.936C>T c.(934-936)tcC>tcT p.S312S NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA. 312 Lys-rich.|Mediates the tyrosine-protein kinase activity. ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) TCCTGTCTGGGGATCCAGTAT 0.358000 68 9 0 0 1 0 0 MARK1 4139 broad.mit.edu 37 1 220789325 220789325 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:220789325C>T uc009xdw.3 + 6 1137 c.540C>T c.(538-540)caC>caT p.H180H MARK1_uc001hmn.4_Silent_p.H180H|MARK1_uc010pun.2_Silent_p.H180H|MARK1_uc001hmm.4_Silent_p.H158H NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA. 180 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) ACATTGTTCACCGTGATCTTA 0.259000 35 5 0 0 1 0 0 IQGAP3 128239 broad.mit.edu 37 1 156507044 156507044 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:156507044G>A uc001fpf.3 - 26 3426 c.3351C>T c.(3349-3351)atC>atT p.I1117I NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA. 1117 Ras-GAP. small GTPase mediated signal transduction intracellular Ras GTPase activator activity|calmodulin binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGCGTAGGGCGATGTCCAGTC 0.557000 69 11 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81934316 81934316 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:81934316G>A uc002fgt.3 + 13 1471 c.1293G>A c.(1291-1293)acG>acA p.T431T PLCG2_uc010chg.1_Silent_p.T431T NM_002661 NP_002652 P16885 PLCG2_HUMAN Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA. 431 PI-PLC X-box. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.T431T(6) NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 TGCTGTTGACGAAGCCCACGG 0.612000 44 4 0 0 1 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42839758 42839758 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:42839758C>T uc010gor.3 - 12 1542 c.1481G>A c.(1480-1482)gGg>gAg p.G494E TMPRSS2_uc002yzj.3_Missense_Mutation_p.G457E|TMPRSS2_uc010gos.1_Missense_Mutation_p.G457E|TMPRSS2_uc021wjn.1_5'Flank NM_001135099 NP_005647 O15393 TMPS2_HUMAN Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA. 457 proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity p.G457fs*22(2) TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) GCTTGTATCCCCTATCAGCCA 0.498000 T """ERG, ETV1, ETV4, ETV5""" prostate 65 7 0 0 1 0 0 AARS2 57505 broad.mit.edu 37 6 44278886 44278886 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:44278886G>A uc010jza.1 - 3 597 c.594C>T c.(592-594)agC>agT p.S198S TMEM151B_uc003oxg.3_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA. 198 alanyl-tRNA aminoacylation mitochondrion ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) AAAGCACACGGCTAGCAGGCA 0.587000 62 7 0 0 1 0 0 SLC2A4 6517 broad.mit.edu 37 17 7186634 7186634 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:7186634C>T uc002gfp.3 + 1 304 c.104C>T c.(103-105)tCc>tTc p.S35F SLC2A4_uc010cmd.3_Non-coding_Transcript|SLC2A4_uc021tpa.1_Missense_Mutation_p.S25F NM_001042 NP_001033 P14672 GTR4_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA. 35 carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 GTGCTTGGCTCCCTGCAGTTT 0.597000 69 17 0 0 1 0 0 MAP1S 55201 broad.mit.edu 37 19 17844133 17844133 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:17844133C>T uc002nhe.1 + 5 2929 c.2920C>T c.(2920-2922)Ctc>Ttc p.L974F MAP1S_uc010xpv.1_Missense_Mutation_p.L948F NM_018174 NP_060644 Q66K74 MAP1S_HUMAN Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA. 974 Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse DNA binding|actin filament binding|beta-tubulin binding|microtubule binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 CGTGCGCGCGCTCTGCTACGT 0.672000 18 5 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73849870 73849871 + Missense_Mutation DNP CC AT AT rs115151346 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:73849870_73849871CC>AT uc003xzb.3 + 2 2868_2869 c.2280_2281CC>AT c.(2278-2283)accccc>acATcc p.P761S NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 761 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TAGAAGAAACCCCCTCCCAGGG 0.589000 88 8 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121685033 121685033 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:121685033G>A uc010flp.3 + 1 275 c.245G>A c.(244-246)gGt>gAt p.G82D GLI2_uc010yyu.1_Missense_Mutation_p.G82D|GLI2_uc002tmp.1_Missense_Mutation_p.G82D|GLI2_uc010fln.1_Non-coding_Transcript|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.G82D|GLI2_uc010flo.1_Intron|GLI2_uc002tmw.1_Missense_Mutation_p.G82D NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 82 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TCTGTCCACGGTGTGCACGGG 0.622000 106 17 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27287662 27287662 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:27287662G>A uc003xfn.2 + 10 1412 c.604G>A c.(604-606)Gag>Aag p.E202K PTK2B_uc022ate.1_Missense_Mutation_p.E202K|PTK2B_uc003xfp.2_Missense_Mutation_p.E202K|PTK2B_uc003xfq.2_Missense_Mutation_p.E202K|PTK2B_uc010luq.1_5'Flank|PTK2B_uc003xfr.1_5'Flank NM_173174 NP_775268 Q14289 FAK2_HUMAN Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA. 202 FERM. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity p.F201F(1) breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) GTCCAACTTCGAGCTCCTAGA 0.547000 239 40 0 0 1 0 0 GRIA4 2893 broad.mit.edu 37 11 105845060 105845060 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:105845060G>A uc001pix.2 + 15 2879 c.2433G>A c.(2431-2433)ctG>ctA p.L811L GRIA4_uc001piw.2_Silent_p.L811L|GRIA4_uc010rvm.1_Non-coding_Transcript|GRIA4_uc009yxl.1_Non-coding_Transcript NM_000829 NP_000820 P48058 GRIA4_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA. 811 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) CCTTGAGCCTGAGCAATGTAG 0.473000 59 5 0 0 1 0 0 CBLC 23624 broad.mit.edu 37 19 45284519 45284519 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:45284519G>A uc002ozs.3 + 2 619 c.556G>A c.(556-558)Gaa>Aaa p.E186K CBLC_uc010ejt.3_Missense_Mutation_p.E186K NM_012116 NP_036248 Q9ULV8 CBLC_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA. 186 Cbl-PTB.|EF-hand-like. cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) CCACCCTGTGGAACCAGGCTG 0.642000 M AML 501 63 0 0 1 0 0 ADH1C 126 broad.mit.edu 37 4 100266210 100266210 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:100266210C>T uc021xqi.1 - 4 c.461G>A NM_000669 P00326 ADH1G_HUMAN Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA. ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) CTGGTGCCATCCTGCAGGGTC 0.552000 21 4 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71199934 71199934 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:71199934G>A uc001xmm.3 - 10 2152 c.2152C>T c.(2152-2154)Cat>Tat p.H718Y MAP3K9_uc010ttk.2_Missense_Mutation_p.H446Y|MAP3K9_uc001xmk.3_Missense_Mutation_p.H451Y|MAP3K9_uc001xml.3_Missense_Mutation_p.H732Y NM_033141 NP_149132 P80192 M3K9_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA. 718 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GGCTCCTCATGGATTCCATCA 0.632000 65 5 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168272960 168272960 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:168272960C>T uc021zik.1 + 3 677 c.358C>T c.(358-360)Ctc>Ttc p.L120F MLLT4_uc003qwb.1_Missense_Mutation_p.L160F|MLLT4_uc003qwc.2_Missense_Mutation_p.L161F|MLLT4_uc021zij.1_Missense_Mutation_p.L160F NM_001040000 NP_001035089 P55196 AFAD_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA. 161 Ras-associating 1. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding p.L160V(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CAAGAGAACTCTCTCaaagaa 0.388000 T MLL AL 46 4 0 0 1 0 0 C12orf59 120939 broad.mit.edu 37 12 10332194 10332194 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:10332194C>T uc001qxr.3 + 0 638 c.21C>T c.(19-21)gtC>gtT p.V7V C12orf59_uc001qxq.3_Missense_Mutation_p.S2L Q4KMG9 CL059_HUMAN Homo sapiens chromosome 12 open reading frame 59 (C12orf59), mRNA. 7 integral to membrane p.S2L(1) large_intestine(4)|lung(4)|ovary(1) 9 GAGTTCATGTCGTGGCGGCCT 0.478000 128 10 0 0 1 0 0 BDKRB2 624 broad.mit.edu 37 14 96706869 96706869 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:96706869C>T uc010avm.1 + 2 400 c.204C>T c.(202-204)ttC>ttT p.F68F BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.F41F|BDKRB2_uc001yfg.2_Silent_p.F68F NM_000623 NP_000614 P30411 BKRB2_HUMAN Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA. 68 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) GGGTGCTGTTCGTGCTGGCCA 0.612000 131 18 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156643194 156643194 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:156643194G>A uc003iov.3 + 9 2257 c.1721G>A c.(1720-1722)cGa>cAa p.R574Q GUCY1A3_uc010iqc.2_Missense_Mutation_p.R574Q|GUCY1A3_uc010iqd.3_Missense_Mutation_p.R573Q|GUCY1A3_uc003iow.3_Missense_Mutation_p.R574Q|GUCY1A3_uc003iox.3_Missense_Mutation_p.R574Q|GUCY1A3_uc010iqe.3_Missense_Mutation_p.R339Q|GUCY1A3_uc003ioy.3_Missense_Mutation_p.R574Q|GUCY1A3_uc003ioz.3_Missense_Mutation_p.R339Q|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.R574Q NM_000856 NP_001124157 Q02108 GCYA3_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA. 574 Guanylate cyclase. blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TTTCAGATGCGAATTGGACTG 0.398000 24 5 0 0 1 0 0 SP1 6667 broad.mit.edu 37 12 53776470 53776471 + Missense_Mutation DNP TC CT CT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:53776470_53776471TC>CT uc001scw.3 + 2 836_837 c.739_740TC>CT c.(739-741)tca>CTa p.S247L SP1_uc021qyf.1_Missense_Mutation_p.S199L|SP1_uc010sog.2_Missense_Mutation_p.S240L NM_138473 NP_612482 P08047 SP1_HUMAN Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA. 247 Transactivation domain A (Gln-rich). positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm HMG box domain binding|double-stranded DNA binding|histone deacetylase binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.00527) TAATGTACTCTCAGGACAGACT 0.510000 75 10 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3348635 3348636 + Missense_Mutation DNP AG TA TA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:3348635_3348636AG>TA uc001akf.3 + 15 3709_3710 c.3627_3628AG>TA c.(3625-3630)aaagat>aaTAat p.1209_1210KD>NN PRDM16_uc001ake.3_Missense_Mutation_p.1209_1210KD>NN|PRDM16_uc009vlh.3_Missense_Mutation_p.909_910KD>NN|PRDM16_uc001akc.3_Missense_Mutation_p.1208_1209KD>NN NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 1209 Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) TTGAAGTTAAAGATGTGCTTAA 0.545000 T EVI1 """MDS, AML""" 80 5 0 0 1 0 0 CHRM4 1132 broad.mit.edu 37 11 46408064 46408064 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:46408064G>A uc001nct.1 - 0 44 c.44C>T c.(43-45)tCc>tTc p.S15F NM_000741 NP_000732 P08173 ACM4_HUMAN Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA. 15 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) CAGGCGCACGGACTGATTGCC 0.577000 85 7 0 0 1 0 0 DOK5 55816 broad.mit.edu 37 20 53208205 53208205 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:53208205G>A uc002xwy.3 + 4 680 c.460G>A c.(460-462)Gaa>Aaa p.E154K NM_018431 NP_060901 Q9P104 DOK5_HUMAN Homo sapiens docking protein 5 (DOK5), mRNA. 154 IRS-type PTB. insulin receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1) 19 Colorectal(105;0.202) TGTACATGGCGAATGTGCCTT 0.438000 78 12 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39081215 39081215 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:39081215G>A uc002rrf.3 - 8 2110 c.2011C>T c.(2011-2013)Cat>Tat p.H671Y DHX57_uc002rrd.4_Missense_Mutation_p.H55Y|DHX57_uc002rre.3_Missense_Mutation_p.H104Y|DHX57_uc002rrg.3_3'UTR NM_198963 NP_945314 Q6P158 DHX57_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA. 671 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) GTCCTCTCATGAACTTCATCA 0.433000 62 32 0 0 1 0 0 PDGFRL 5157 broad.mit.edu 37 8 17491704 17491704 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:17491704G>A uc003wxr.3 + 5 1366 c.921G>A c.(919-921)tgG>tgA p.W307* NM_006207 NP_006198 Q15198 PGFRL_HUMAN Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA. 307 Ig-like C2-type 2. extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) AGTTCACCTGGATCTTCCCAG 0.542000 108 14 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43601965 43601965 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:43601965G>A uc001jal.3 + 4 1199 c.1009G>A c.(1009-1011)Gag>Aag p.E337K RET_uc001jak.1_Missense_Mutation_p.E337K|RET_uc010qez.1_Missense_Mutation_p.E83K NM_020975 NP_066124 P07949 RET_HUMAN Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA. 337 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CTGGCCCAACGAGACCTCGGT 0.652000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 29 8 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117923469 117923469 + Silent SNP G A A rs75821910 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:117923469G>A uc001two.2 - 14 2215 c.2160C>T c.(2158-2160)tcC>tcT p.S720S NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 749 Protein kinase. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity p.G719G(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCCTCACAACGGAATAGAGCG 0.448000 59 5 0 0 1 0 0 NEMF 9147 broad.mit.edu 37 14 50295850 50295850 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:50295850G>A uc010anj.1 - 12 1222 c.1154C>T c.(1153-1155)gCc>gTc p.A385V NEMF_uc001wxc.3_Missense_Mutation_p.A385V|NEMF_uc010tqi.2_Missense_Mutation_p.A385V|NEMF_uc001wxe.2_Missense_Mutation_p.A343V|NEMF_uc001wxd.1_5'UTR|NEMF_uc010anq.1_Missense_Mutation_p.A156V NM_004713 NP_004704 O60524 NEMF_HUMAN Homo sapiens nuclear export mediator factor (NEMF), mRNA. 385 cytoplasm|nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 TTGAGCCTGGGCTTCTTTCAC 0.393000 68 19 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215840562 215840562 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:215840562C>T uc002vew.3 - 33 5548 c.5328G>A c.(5326-5328)gaG>gaA p.E1776E ABCA12_uc002vev.3_Silent_p.E1458E|ABCA12_uc010zjn.2_Silent_p.E703E NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 1776 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AGATCTGAATCTCTGGATAAC 0.448000 21 8 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39085927 39085927 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:39085927G>A uc002rrf.3 - 5 1562 c.1463C>T c.(1462-1464)cCt>cTt p.P488L DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Missense_Mutation_p.P488L NM_198963 NP_945314 Q6P158 DHX57_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA. 488 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) TACTATAACAGGTGCAGGACC 0.373000 62 9 0 0 1 0 0 SNAP29 9342 broad.mit.edu 37 22 21213631 21213631 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:21213631C>T uc011ahw.2 + 0 340 c.233C>T c.(232-234)tCc>tTc p.S78F PI4KA_uc002zsz.4_5'Flank|PI4KA_uc010gsq.2_5'Flank NM_004782 NP_004773 O95721 SNP29_HUMAN Homo sapiens synaptosomal-associated protein, 29kDa (SNAP29), mRNA. 78 cellular membrane fusion|exocytosis|protein transport|vesicle targeting cell junction|cytoplasm|nucleus|synapse|synaptosome SNAP receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1) 9 all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117) GTCGCCTCTTCCGAGGTGAGC 0.607000 97 7 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207753667 207753667 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:207753667C>T uc001hfy.3 + 21 3809 c.3669C>T c.(3667-3669)ttC>ttT p.F1223F CR1_uc009xcl.1_Silent_p.F773F|CR1_uc001hfx.3_Silent_p.F1673F|CR1_uc021pij.1_Silent_p.F1223F NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 1223 Sushi 19. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.F1228L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 AGGAAGTGTTCTACAGCTGTG 0.582000 26 12 0 0 1 0 0 HK2 3099 broad.mit.edu 37 2 75109255 75109255 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:75109255C>T uc002snd.3 + 11 3654 c.1728C>T c.(1726-1728)gaC>gaT p.D576D NM_000189 NP_000180 P52789 HXK2_HUMAN Homo sapiens hexokinase 2 (HK2), mRNA. 576 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 AGCTCTTTGACCACATTGTCC 0.587000 77 12 0 0 1 0 0 WFDC1 58189 broad.mit.edu 37 16 84360531 84360531 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:84360531G>A uc002fhv.3 + 5 825 c.648G>A c.(646-648)caG>caA p.Q216Q WFDC1_uc002fhw.3_Silent_p.Q216Q NM_021197 NP_067020 Q9HC57 WFDC1_HUMAN Homo sapiens WAP four-disulfide core domain 1 (WFDC1), mRNA. 216 negative regulation of cell growth extracellular space serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1) 9 GGGGACAACAGAAGCACTTTC 0.512000 53 4 0 0 1 0 0 BPI 671 broad.mit.edu 37 20 36937434 36937434 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:36937434G>A uc002xib.2 + 2 422 c.360G>A c.(358-360)ggG>ggA p.G120G NM_001725 NP_001716 P17213 BPI_HUMAN Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA. 120 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding p.S119I(1) kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) AGATCAGCGGGAAATGGAAGG 0.493000 61 8 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140581575 140581575 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140581575G>A uc003liy.3 + 0 2228 c.2228G>A c.(2227-2229)gGg>gAg p.G743E NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN Homo sapiens protocadherin beta 11 (PCDHB11), mRNA. 743 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.T742T(1) NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCGGCACCGGGACCCTTTCC 0.602000 98 21 0 0 1 0 0 SENP7 57337 broad.mit.edu 37 3 101086763 101086763 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:101086763G>A uc003dut.3 - 7 1000 c.889C>T c.(889-891)Ctg>Ttg p.L297L SENP7_uc003duu.3_Silent_p.L232L|SENP7_uc003duv.3_Silent_p.L264L|SENP7_uc003duw.3_Silent_p.L231L|SENP7_uc003dux.3_Silent_p.L133L NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA. 297 proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CTGGAAATCAGAGTGAGTTCC 0.358000 14 3 0 0 1 0 0 HTR6 3362 broad.mit.edu 37 1 20005140 20005140 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:20005140G>A uc001bcl.3 + 1 1262 c.795G>A c.(793-795)aaG>aaA p.K265K NM_000871 NP_000862 P50406 5HT6R_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 6 (HTR6), mRNA. 265 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) AGGCCCTGAAGGCCAGCCTGA 0.627000 61 4 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9248242 9248242 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:9248242C>T uc001qvk.1 - 15 2019 c.1906G>A c.(1906-1908)Gac>Aac p.D636N A2M_uc009zgk.1_Missense_Mutation_p.D486N NM_000014 NP_000005 P01023 A2MG_HUMAN Homo sapiens alpha-2-macroglobulin (A2M), mRNA. 636 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TTGTCCTGGTCATTCAAAGGC 0.378000 77 7 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31902172 31902172 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31902172C>T uc003nye.4 + 5 1209 c.945C>T c.(943-945)caC>caT p.H315H CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nyf.3_Intron|CFB_uc010jtk.3_Intron|CFB_uc011doq.2_Intron|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank NM_000063 NP_000054 P00751 CFAB_HUMAN Homo sapiens complement component 2 (C2), transcript variant 1, mRNA. 0 VWFA. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 TCACAGCCCACCTCCTCCAAG 0.468000 43 6 0 0 1 0 0 MLL3 58508 broad.mit.edu 37 7 151877065 151877065 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:151877065G>A uc003wla.3 - 36 7515 c.7296C>T c.(7294-7296)ttC>ttT p.F2432F MLL3_uc003wkz.3_Silent_p.F1493F|MLL3_uc003wky.3_5'Flank NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 2432 Pro-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GGGGTCTGGTGAAAGCCTGGT 0.542000 N medulloblastoma 54 10 0 0 1 0 0 FURIN 5045 broad.mit.edu 37 15 91424898 91424898 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:91424898C>T uc002bpu.1 + 15 2391 c.2175C>T c.(2173-2175)atC>atT p.I725I FES_uc002bpv.3_5'Flank|FES_uc010uqj.2_5'Flank|FES_uc010uqk.2_5'Flank NM_002569 NP_002560 P09958 FURIN_HUMAN Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA. 725 Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity p.I725I(2)|p.V717fs*18(1) breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GCGCCTTCATCGTGCTGGTCT 0.662000 414 166 0 0 1 0 0 ENTHD1 150350 broad.mit.edu 37 22 40140285 40140285 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:40140285G>A uc003ayg.3 - 6 1474 c.1223C>T c.(1222-1224)tCa>tTa p.S408L NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA. 408 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) AGAAGCAGTTGAAACTAAAAT 0.358000 18 4 0 0 1 0 0 ESRRG 2104 broad.mit.edu 37 1 216680389 216680389 + Silent SNP G A A rs111905976 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:216680389G>A uc001hkw.2 - 6 1442 c.1269C>T c.(1267-1269)ctC>ctT p.L423L ESRRG_uc009xdp.1_Silent_p.L400L|ESRRG_uc001hky.1_Silent_p.L400L|ESRRG_uc001hkz.2_Silent_p.L361L|ESRRG_uc010puc.2_Silent_p.L400L|ESRRG_uc001hla.2_Silent_p.L400L|ESRRG_uc001hlb.2_Silent_p.L400L|ESRRG_uc010pud.2_Silent_p.L238L|ESRRG_uc021pja.1_Silent_p.L172L|ESRRG_uc001hlc.1_Silent_p.L400L|ESRRG_uc001hld.1_Silent_p.L400L|ESRRG_uc001hkx.2_Silent_p.L435L|ESRRG_uc009xdo.2_Silent_p.L400L|ESRRG_uc001hle.2_Silent_p.L400L|ESRRG_uc021piz.1_Silent_p.L400L NM_001438 NP_001230435 P62508 ERR3_HUMAN Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA. 423 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) TCTGCCTCAGGAGTGGCAGTG 0.498000 33 8 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142458528 142458528 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:142458528G>A uc003wak.2 + 1 180 c.163G>A c.(163-165)Gaa>Aaa p.E55K TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Missense_Mutation_p.R30Q|PRSS1_uc003wam.2_5'Flank NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 55 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CCTCATCAACGAACAGTGGGT 0.572000 40 18 0 0 1 0 0 RHOBTB3 22836 broad.mit.edu 37 5 95091130 95091130 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:95091130C>T uc003klm.3 + 5 1250 c.713C>T c.(712-714)tCa>tTa p.S238L RHOBTB3_uc003klk.1_Missense_Mutation_p.S32L NM_014899 NP_055714 O94955 RHBT3_HUMAN Homo sapiens Rho-related BTB domain containing 3 (RHOBTB3), mRNA. 238 retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1) 16 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) GCTGAAGCGTCACATTATAAC 0.358000 72 16 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183694754 183694754 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:183694754C>T uc003ivd.1 + 21 5097 c.5022C>T c.(5020-5022)atC>atT p.I1674I NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1674 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) ATGTCAGCATCACTTCAAATC 0.453000 139 8 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36485362 36485362 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:36485362C>T uc002hpz.3 - 10 4111 c.4090G>A c.(4090-4092)Gaa>Aaa p.E1364K NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA. 1364 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CCAGCAGCTTCCCACCCAGGC 0.612000 79 5 0 0 1 0 0 CA13 377677 broad.mit.edu 37 8 86180773 86180773 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:86180773C>T uc003ydg.2 + 5 928 c.586C>T c.(586-588)Cct>Tct p.P196S CA13_uc003ydf.1_Non-coding_Transcript NM_198584 NP_940986 Q8N1Q1 CAH13_HUMAN Homo sapiens carbonic anhydrase XIII (CA13), mRNA. 196 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding large_intestine(1)|lung(6) 7 CTGGACATATCCTGGTTCTCT 0.408000 29 4 0 0 1 0 0 COLQ 8292 broad.mit.edu 37 3 15493157 15493157 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:15493157G>A uc003bzx.3 - 16 1488 c.1362C>T c.(1360-1362)ttC>ttT p.F454F COLQ_uc003bzv.3_Silent_p.F444F|COLQ_uc010heo.3_Silent_p.F420F|COLQ_uc003cad.1_Non-coding_Transcript|COLQ_uc003cae.1_Silent_p.F313F NM_005677 NP_005668 Q9Y215 COLQ_HUMAN Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA. 454 acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft endometrium(2)|large_intestine(4)|lung(10)|skin(3) 19 GCCCTCAGGTGAAGTAGCGGC 0.592000 70 4 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10356643 10356643 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:10356643C>T uc002gmn.3 - 23 3048 c.2937G>A c.(2935-2937)gtG>gtA p.V979V AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 979 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TGAGGTTTTTCACCTTTAGAT 0.438000 93 7 0 0 1 0 0 CREB5 9586 broad.mit.edu 37 7 28547262 28547262 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:28547262G>A uc003szq.3 + 3 588 c.198G>A c.(196-198)ctG>ctA p.L66L CREB5_uc003szo.3_Silent_p.L33L|CREB5_uc003szr.3_Silent_p.L59L NM_182898 NP_878902 Q02930 CREB5_HUMAN Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA. 66 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.F65F(1) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 CGAGATTCCTGAAGAACTGCG 0.522000 331 11 0 0 1 0 0 SYPL2 284612 broad.mit.edu 37 1 110018316 110018316 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:110018316C>T uc001dxp.3 + 2 609 c.243C>T c.(241-243)ggC>ggT p.G81G SYPL2_uc001dxo.2_Silent_p.G81G|SYPL2_uc010ovk.2_Silent_p.G81G|SYPL2_uc001dxq.2_5'Flank NM_001040709 NP_001035799 Q5VXT5 SYPL2_HUMAN Homo sapiens synaptophysin-like 2 (SYPL2), mRNA. 81 MARVEL. integral to membrane|synaptic vesicle transporter activity breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) TTGCATTTGGCTATCCCTTCA 0.537000 364 26 0 0 1 0 0 C3orf64 285203 broad.mit.edu 37 3 69047177 69047177 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:69047177G>A uc003dnl.3 - 9 1221 c.816C>T c.(814-816)atC>atT p.I272I C3orf64_uc003dnj.3_5'UTR|C3orf64_uc003dnk.3_Silent_p.I272I|C3orf64_uc011bfw.2_Intron|C3orf64_uc003dnm.1_Non-coding_Transcript NM_173654 NP_775925 Q5NDL2 AER61_HUMAN Homo sapiens chromosome 3 open reading frame 64 (C3orf64), mRNA. 272 extracellular region transferase activity, transferring glycosyl groups NS(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 12 Lung NSC(201;0.126) BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216) CCCACATCACGATGTACACGT 0.393000 74 4 0 0 1 0 0 BCL3 602 broad.mit.edu 37 19 45262039 45262039 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:45262039C>T uc010xxe.2 + 7 1188 c.1118C>T c.(1117-1119)cCc>cTc p.P373L NM_005178 NP_005169 P20749 BCL3_HUMAN Homo sapiens B-cell CLL/lymphoma 3 (BCL3), mRNA. 373 Pro/Ser-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) CAGCCAGACCCCTCCCCTGAC 0.657000 T IGH@ CLL 144 14 0 0 1 0 0 PIWIL2 55124 broad.mit.edu 37 8 22212977 22212977 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:22212977G>A uc003xbn.2 + 22 3029 c.2881G>A c.(2881-2883)Gaa>Aaa p.E961K PIWIL2_uc011kzf.1_Missense_Mutation_p.E925K|PIWIL2_uc010ltv.2_Missense_Mutation_p.E961K|PIWIL2_uc003xbo.2_Missense_Mutation_p.E115K NM_018068 NP_060538 Q8TC59 PIWL2_HUMAN Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA. 961 E -> G (in Ref. 2; BAB55155). DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) CTTGCATCATGAACCAGCCAT 0.537000 29 6 0 0 1 0 0 MIR493 574450 broad.mit.edu 37 14 101335450 101335450 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:101335450C>T uc021sca.1 + 0 c.54C>T Homo sapiens microRNA 493 (MIR493), microRNA. tttgcacattcggtgaaggtc 0.597000 46 9 0 0 1 0 0 PIPOX 51268 broad.mit.edu 37 17 27371943 27371943 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:27371943G>A uc002hdr.1 + 1 507 c.181G>A c.(181-183)Gaa>Aaa p.E61K NM_016518 NP_057602 Q9P0Z9 SOX_HUMAN Homo sapiens pipecolic acid oxidase (PIPOX), mRNA. 61 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) GGCGTACCTGGAAGACTTTTA 0.527000 68 11 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45398735 45398735 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:45398735C>T uc001zun.3 - 15 2139 c.1936G>A c.(1936-1938)Gga>Aga p.G646R DUOX2_uc010bea.3_Missense_Mutation_p.G646R NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 646 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CCTGGCACTCCATCTTTGGCT 0.552000 140 7 0 0 1 0 0 HAUS5 23354 broad.mit.edu 37 19 36110382 36110382 + Silent SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:36110382C>A uc002oam.1 + 13 1287 c.1236C>A c.(1234-1236)acC>acA p.T412T NM_015302 NP_056117 O94927 HAUS5_HUMAN Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA. 412 cell division|centrosome organization|mitosis|spindle assembly HAUS complex|centrosome|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 CCAGCAAGACCCGCCTGTGCC 0.632000 26 4 3.59834e-05 3.63868e-05 1 1 0 OR5T3 390154 broad.mit.edu 37 11 56020129 56020129 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:56020129C>T uc010rjd.2 + 0 454 c.454C>T c.(454-456)Cac>Tac p.H152Y NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA. 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) GGCTTATGATCACTATGTAGC 0.408000 87 10 0 0 1 0 0 OPRM1 4988 broad.mit.edu 37 6 154412470 154412470 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:154412470G>A uc011efe.2 + 4 1829 c.1306G>A c.(1306-1308)Gaa>Aaa p.E436K OPRM1_uc011efd.2_Missense_Mutation_p.E243K|OPRM1_uc011efc.1_Missense_Mutation_p.E262K|OPRM1_uc003qpn.2_Missense_Mutation_p.E343K|OPRM1_uc003qpo.1_Missense_Mutation_p.E343K|OPRM1_uc011eff.1_Missense_Mutation_p.E343K|OPRM1_uc011efg.1_Missense_Mutation_p.E343K|OPRM1_uc011efi.2_Missense_Mutation_p.E343K|OPRM1_uc011efh.1_Missense_Mutation_p.E343K|OPRM1_uc003qpq.1_Missense_Mutation_p.E343K|OPRM1_uc003qpr.2_Missense_Mutation_p.E343K|OPRM1_uc003qpt.1_Missense_Mutation_p.E343K|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.E243K|OPRM1_uc003qpu.2_Missense_Mutation_p.E243K NM_001145279 NP_001138751 P35372 OPRM_HUMAN Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA. 343 behavior|negative regulation of cell proliferation|sensory perception Golgi apparatus|endoplasmic reticulum|integral to plasma membrane mu-opioid receptor activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) ATTTCTGGATGAAAACTTCAA 0.448000 28 5 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18368106 18368106 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:18368106C>A uc010ebn.2 - 3 4204 c.3988G>T c.(3988-3990)Gtt>Ttt p.V1330F PDE4C_uc002nil.4_5'Flank|PDE4C_uc021uql.1_5'Flank|KIAA1683_uc002nin.2_Missense_Mutation_p.V1143F|KIAA1683_uc010xqe.1_Missense_Mutation_p.V1097F|KIAA1683_uc010xqf.1_Non-coding_Transcript NM_001145304 NP_001138776 Q9H0B3 K1683_HUMAN Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA. 133 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 GTGGCTTGAACTATCTTCGCT 0.622000 53 10 0.000978159 0.00098697 1 1 0 UBR4 23352 broad.mit.edu 37 1 19525396 19525396 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:19525396G>A uc001bbi.3 - 3 409 c.405C>T c.(403-405)ggC>ggT p.G135G NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 135 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CAGTGCACAGGCCCTTGATTA 0.373000 46 4 0 0 1 0 0 NT5DC3 51559 broad.mit.edu 37 12 104190780 104190780 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:104190780G>A uc010swe.1 - 5 686 c.645C>T c.(643-645)ttC>ttT p.F215F NM_001031701 NP_001026871 Q86UY8 NT5D3_HUMAN Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA. 215 hydrolase activity|metal ion binding NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 AGATGTCCATGAACTGCTTCA 0.522000 46 5 0 0 1 0 0 AQR 9716 broad.mit.edu 37 15 35207320 35207320 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:35207320C>T uc001ziv.3 - 15 1584 c.1403G>A c.(1402-1404)aGg>aAg p.R468K NM_014691 NP_055506 O60306 AQR_HUMAN Homo sapiens aquarius homolog (mouse) (AQR), mRNA. 468 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) GTTAAAGTTCCTTAGCAGGTA 0.353000 31 4 0 0 1 0 0 QSER1 79832 broad.mit.edu 37 11 32956541 32956541 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:32956541C>T uc001mty.3 + 3 3617 c.3350C>T c.(3349-3351)tCc>tTc p.S1117F QSER1_uc001mtz.1_Missense_Mutation_p.S878F|QSER1_uc001mua.3_Missense_Mutation_p.S622F NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN Homo sapiens glutamine and serine rich 1 (QSER1), mRNA. 1117 breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) ACTCCTCCTTCCTCAGAAAGC 0.418000 45 4 0 0 1 0 0 OR10H1 26539 broad.mit.edu 37 19 15918838 15918838 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:15918838C>T uc002nbq.2 - 0 99 c.10G>A c.(10-12)Gcc>Acc p.A4T NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA. 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 GAGTGATTGGCTCTCTGCATG 0.532000 53 16 0 0 1 0 0 ABCC6P1 653190 broad.mit.edu 37 16 18602512 18602512 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:18602512G>A uc002dfg.3 + 7 910 c.710G>A c.(709-711)aGc>aAc p.S237N ABCC6P1_uc010vam.2_Missense_Mutation_p.S180N Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 1 (ABCC6P1), non-coding RNA. CAAGAAGGGAGCCAGTGGCGC 0.567000 35 5 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45699681 45699681 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:45699681G>A uc003tne.4 + 6 1366 c.1348G>A c.(1348-1350)Ggg>Agg p.G450R ADCY1_uc003tnd.3_Missense_Mutation_p.G225R NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 450 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) GTGCTTGAATGGGGACTACGA 0.488000 62 11 0 0 1 0 0 WDR81 124997 broad.mit.edu 37 17 1637215 1637215 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:1637215C>T uc002ftj.2 + 6 5013 c.4884C>T c.(4882-4884)agC>agT p.S1628S WDR81_uc002fth.2_Silent_p.S577S|WDR81_uc010vqp.1_Silent_p.S425S|WDR81_uc002fti.2_Silent_p.S401S|WDR81_uc010vqq.1_Silent_p.S259S NM_001163809 NP_001157281 B3KXU1 B3KXU1_HUMAN Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA. 401 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TCGGCGTGAGCCAGCAGGATG 0.667000 65 8 0 0 1 0 0 FGR 2268 broad.mit.edu 37 1 27943473 27943473 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:27943473C>T uc001boj.3 - 4 723 c.577G>A c.(577-579)Gat>Aat p.D193N FGR_uc001boi.3_5'Flank|FGR_uc001bok.3_Missense_Mutation_p.D193N|FGR_uc001bol.3_Missense_Mutation_p.D193N|FGR_uc001bom.3_Missense_Mutation_p.D193N NM_005248 NP_005239 P09769 FGR_HUMAN Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA. 193 SH2. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TTCACATGATCGCCTCTGGTC 0.552000 73 25 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43251172 43251172 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:43251172G>A uc003ouq.1 + 13 2973 c.2694G>A c.(2692-2694)ccG>ccA p.P898P TTBK1_uc021yzs.1_Silent_p.P186P NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA. 898 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCAAGCCCCCGGGGCCTGGGG 0.672000 30 9 0 0 1 0 0 PPP1R32 220004 broad.mit.edu 37 11 61249255 61249255 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:61249255C>T uc001nru.2 + 2 105 c.-27_splice c.e2-1 PPP1R32_uc009ynq.2_Splice_Site NM_145017 NP_659454 Q7Z5V6 CK066_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 32 (PPP1R32), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. CCTTTCTAGGCCCCCTGGGGC 0.662000 16 6 0 0 1 0 0 BRAT1 221927 broad.mit.edu 37 7 2582846 2582846 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:2582846G>A uc003smi.3 - 5 1203 c.915C>T c.(913-915)ctC>ctT p.L305L BRAT1_uc003smh.4_5'Flank|BRAT1_uc021zyz.1_3'UTR|BRAT1_uc003smj.2_3'UTR NM_152743 NP_689956 Q6PJG6 BRAT1_HUMAN Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA. 305 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 ACCAGTGCTCGAGCTTCAGGA 0.647000 53 7 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45878181 45878181 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:45878181G>A uc010zxy.1 - 12 1727 c.1645C>T c.(1645-1647)Cga>Tga p.R549* ZMYND8_uc010ghq.1_Nonsense_Mutation_p.R199*|ZMYND8_uc010ghr.1_Nonsense_Mutation_p.R497*|ZMYND8_uc002xst.1_Nonsense_Mutation_p.R450*|ZMYND8_uc002xsu.1_Nonsense_Mutation_p.R522*|ZMYND8_uc002xsv.1_Nonsense_Mutation_p.R450*|ZMYND8_uc002xsw.1_Nonsense_Mutation_p.R274*|ZMYND8_uc002xsx.1_Nonsense_Mutation_p.R274*|ZMYND8_uc002xsy.1_Nonsense_Mutation_p.R497*|ZMYND8_uc002xsz.1_Nonsense_Mutation_p.R459*|ZMYND8_uc002xta.1_Nonsense_Mutation_p.R522*|ZMYND8_uc002xtb.1_Nonsense_Mutation_p.R542*|ZMYND8_uc002xss.2_Nonsense_Mutation_p.R522*|ZMYND8_uc010zxz.1_Nonsense_Mutation_p.R517*|ZMYND8_uc002xtc.1_Nonsense_Mutation_p.R542*|ZMYND8_uc002xtd.1_Nonsense_Mutation_p.R517*|ZMYND8_uc002xte.1_Nonsense_Mutation_p.R522*|ZMYND8_uc010zya.1_Nonsense_Mutation_p.R522*|ZMYND8_uc002xtf.1_Nonsense_Mutation_p.R542*|ZMYND8_uc002xtg.3_Nonsense_Mutation_p.R516*|ZMYND8_uc010ghs.2_Nonsense_Mutation_p.R516* NM_183047 NP_898868 Q9ULU4 PKCB1_HUMAN Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA. 522 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GCTTTGCTTCGATCTGAAAGA 0.502000 51 12 0 0 1 0 0 TMEM147 10430 broad.mit.edu 37 19 36038232 36038232 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:36038232C>T uc002oaj.2 + 6 698 c.558C>T c.(556-558)ttC>ttT p.F186F AX747325_uc002oag.3_5'Flank|AX747325_uc021usq.1_5'Flank|TMEM147_uc002oai.2_Silent_p.F137F|TMEM147_uc021usr.1_Silent_p.F112F NM_032635 NP_001229526 Q9BVK8 TM147_HUMAN Homo sapiens transmembrane protein 147 (TMEM147), transcript variant 1, mRNA. 186 endoplasmic reticulum membrane|integral to membrane protein binding endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCAGGACCTTCGTCCACCTCT 0.572000 71 7 0 0 1 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28296662 28296662 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:28296662G>A uc002ymg.3 - 7 3232 c.2503C>T c.(2503-2505)Ctt>Ttt p.L835F NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA. 835 Spacer. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 TCTGTTGCAAGAATCTGCACT 0.453000 77 4 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58253006 58253006 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:58253006G>A uc002aex.3 - 11 1719 c.1446C>T c.(1444-1446)ccC>ccT p.P482P ALDH1A2_uc010ugv.2_Silent_p.P461P|ALDH1A2_uc002aey.3_Silent_p.P444P|ALDH1A2_uc010ugw.2_Silent_p.P453P|ALDH1A2_uc002aew.3_Silent_p.P386P NM_003888 NP_733798 O94788 AL1A2_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA. 482 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) ATCCCCCAAAGGGGCTCTGGG 0.423000 22 3 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31418929 31418929 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:31418929G>A uc010cap.1 + 7 847 c.798G>A c.(796-798)ctG>ctA p.L266L ITGAD_uc010vfl.1_Silent_p.L266L|ITGAD_uc002ebv.1_Silent_p.L266L|ITGAD_uc002ebw.1_Silent_p.L77L NM_005353 NP_005344 Q13349 ITAD_HUMAN Homo sapiens integrin, alpha D (ITGAD), mRNA. 266 VWFA. cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 AAGACCCCCTGGAATACAGTG 0.547000 63 7 0 0 1 0 0 MYF6 4618 broad.mit.edu 37 12 81101536 81101536 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:81101536T>G uc001szf.2 + 0 129 c.38T>G c.(37-39)tTc>tGc p.F13C NM_002469 NP_002460 P23409 MYF6_HUMAN Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA. 13 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity p.F13L(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 TCCTATTTCTTCTACTTGGAT 0.493000 75 7 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92441921 92441921 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:92441921C>T uc001dol.4 + 5 962 c.544C>T c.(544-546)Cct>Tct p.P182S BRDT_uc010osz.2_Missense_Mutation_p.P186S|BRDT_uc001dok.4_Missense_Mutation_p.P182S|BRDT_uc009wdf.3_Missense_Mutation_p.P109S|BRDT_uc010otb.2_Missense_Mutation_p.P136S|BRDT_uc010ota.2_Missense_Mutation_p.P136S|BRDT_uc001dom.4_Missense_Mutation_p.P182S NM_001242805 NP_001229734 Q58F21 BRDT_HUMAN Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA. 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) TTCTGTATTTCCTAAGACATC 0.393000 41 8 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156811546 156811546 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:156811546G>A uc010pht.2 - 19 3737 c.3438C>T c.(3436-3438)taC>taT p.Y1146Y NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 1146 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CACCCTTGCGGTAATAGTCTG 0.612000 111 8 0 0 1 0 0 C4orf17 84103 broad.mit.edu 37 4 100434256 100434256 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:100434256G>A uc003huw.3 + 1 380 c.18G>A c.(16-18)ccG>ccA p.P6P C4orf17_uc003hux.3_Non-coding_Transcript NM_032149 NP_115525 Q53FE4 CD017_HUMAN Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA. 6 p.P6Q(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) TCAACCCCCCGACATCTGCTC 0.473000 16 14 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71495673 71495673 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:71495673C>T uc003kbw.4 + 4 6732 c.6491C>T c.(6490-6492)cCg>cTg p.P2164L MAP1B_uc010iyw.1_Missense_Mutation_p.P2181L|MAP1B_uc010iyx.1_Missense_Mutation_p.P2038L|MAP1B_uc010iyy.1_Missense_Mutation_p.P2038L NM_005909 NP_005900 P46821 MAP1B_HUMAN Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA. 2164 microtubule|microtubule associated complex structural molecule activity p.P2164Q(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GATGTTCCCCCGGAGACTGAA 0.577000 38 8 0 0 1 0 0 CASQ1 844 broad.mit.edu 37 1 160168518 160168519 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:160168518_160168519CC>TT uc010pja.2 + 7 1137_1138 c.880_881CC>TT c.(880-882)cct>TTt p.P294F NM_001231 NP_001222 P31415 CASQ1_HUMAN Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA. 294 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGAAGCTGATCCTGGTGAGGGA 0.535000 110 7 0 0 1 0 0 SLC25A33 84275 broad.mit.edu 37 1 9640052 9640052 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:9640052C>T uc001apw.3 + 5 746 c.523C>T c.(523-525)Cgt>Tgt p.R175C NM_032315 NP_115691 Q9BSK2 S2533_HUMAN Homo sapiens solute carrier family 25, member 33 (SLC25A33), nuclear gene encoding mitochondrial protein, mRNA. 175 transport integral to membrane|mitochondrial inner membrane endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1) 9 all_lung(157;0.246) all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419) CCAGTGTGCTCGTTACGTTTA 0.438000 48 4 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145156463 145156463 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:145156463G>A uc002tvu.3 - 7 2813 c.2291C>T c.(2290-2292)tCc>tTc p.S764F ZEB2_uc010zbm.2_Missense_Mutation_p.S740F|ZEB2_uc002tvv.3_Missense_Mutation_p.S758F|ZEB2_uc010fnp.3_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.S793F NM_014795 NP_055610 O60315 ZEB2_HUMAN Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA. 764 cytoplasm|nucleolus SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P763P(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) GGTAAAATGGGAAGGTTTTGT 0.403000 83 11 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42532996 42532996 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:42532996C>T uc010dni.3 + 3 3987 c.3691C>T c.(3691-3693)Ctg>Ttg p.L1231L NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA. 1231 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GGTGGACACCCTGTCTACACT 0.517000 Schinzel-Giedion syndrome 14 3 0 0 1 0 0 SEMA4A 64218 broad.mit.edu 37 1 156146351 156146351 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:156146351G>A uc001fnl.3 + 14 2028 c.1849G>A c.(1849-1851)Gga>Aga p.G617R SEMA4A_uc009wrq.3_Missense_Mutation_p.G617R|SEMA4A_uc001fnm.3_Missense_Mutation_p.G617R|SEMA4A_uc001fnn.3_Missense_Mutation_p.G485R|SEMA4A_uc001fno.3_Missense_Mutation_p.G617R NM_001193301 NP_071762 Q9H3S1 SEM4A_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA. 617 Ig-like C2-type. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) AGTGCAGGATGGAGTTGGGGG 0.557000 82 7 0 0 1 0 0 CYP2S1 29785 broad.mit.edu 37 19 41700523 41700523 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:41700523G>A uc002opw.3 + 1 307 c.252G>A c.(250-252)caG>caA p.Q84Q CYP2S1_uc010xvx.2_5'UTR NM_030622 NP_085125 Q96SQ9 CP2S1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA. 84 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 TGGTTGGGCAGGAGGCTGTGC 0.612000 57 9 0 0 1 0 0 PRR21 643905 broad.mit.edu 37 2 240981419 240981419 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:240981419G>A uc010zod.2 - 0 981 c.981C>T c.(979-981)tcC>tcT p.S327S NM_001080835 NP_001074304 Q8WXC7 PRR21_HUMAN Homo sapiens proline rich 21 (PRR21), mRNA. 327 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 29 GAAGAGACGTGGATGAAGAGG 0.592000 154 10 0 0 1 0 0 PRKAR1B 5575 broad.mit.edu 37 7 750981 750981 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:750981G>A uc003siu.2 - 1 295 c.162C>T c.(160-162)ttC>ttT p.F54F PRKAR1B_uc021zyi.1_Silent_p.F54F|PRKAR1B_uc003siv.3_Silent_p.F54F|PRKAR1B_uc021zyj.1_Silent_p.F54F|PRKAR1B_uc021zyk.1_Silent_p.F54F|PRKAR1B_uc003siw.2_Silent_p.F54F NM_002735 NP_002726 P31321 KAP1_HUMAN Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA. 54 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1) 17 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) CCAGCTTCTCGAAGTGCTCCC 0.652000 59 19 0 0 1 0 0 NUMA1 4926 broad.mit.edu 37 11 71726466 71726466 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:71726466G>A uc001orl.1 - 14 2255 c.2083C>T c.(2083-2085)Cag>Tag p.Q695* NUMA1_uc009ysw.1_Nonsense_Mutation_p.Q258*|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Nonsense_Mutation_p.Q695*|NUMA1_uc001orn.2_Nonsense_Mutation_p.Q258*|NUMA1_uc009ysx.1_Nonsense_Mutation_p.Q695*|NUMA1_uc001oro.1_Nonsense_Mutation_p.Q695* NM_006185 NP_006176 Q14980 NUMA1_HUMAN Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA. 695 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 TCCTTCTCCTGGGCCACCCTT 0.597000 T RARA APL 94 4 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 108029148 108029148 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:108029148G>A uc001tmk.1 + 11 3239 c.2718G>A c.(2716-2718)cgG>cgA p.R906R BTBD11_uc009zut.1_Silent_p.R787R|BTBD11_uc001tmj.3_Silent_p.R906R|BTBD11_uc001tml.1_Silent_p.R443R|BTBD11_uc001tmm.1_5'UTR NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA. 906 integral to membrane DNA binding p.K905E(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 AAATCAAACGGAAACAGACCT 0.527000 45 4 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150832764 150832764 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:150832764G>A uc004fev.4 + 10 1347 c.1015G>A c.(1015-1017)Gat>Aat p.D339N NM_173493 NP_775764 Q8IV76 PASD1_HUMAN Homo sapiens PAS domain containing 1 (PASD1), mRNA. 339 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) AGGCCTGATGGATCCAGTGGA 0.597000 19 6 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8862439 8862439 + Silent SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:8862439C>A uc002wnb.3 + 31 3597 c.3594C>A c.(3592-3594)ccC>ccA p.P1198P PLCB1_uc002wna.3_3'UTR NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 1198 CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission cytosol|nuclear chromatin|nuclear speck GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 ACAAGACTCCCTCCAGTGAGG 0.527000 17 6 0.0215528 0.0216996 1 1 0 PTPRS 5802 broad.mit.edu 37 19 5238958 5238958 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:5238958G>A uc002mbv.3 - 12 2055 c.1821C>T c.(1819-1821)ccC>ccT p.P607P PTPRS_uc002mbu.1_Silent_p.P594P|PTPRS_uc010xin.2_Silent_p.P594P|PTPRS_uc002mbw.3_Silent_p.P594P|PTPRS_uc002mbx.3_Silent_p.P598P|PTPRS_uc002mby.3_Silent_p.P594P NM_002850 NP_002841 Q13332 PTPRS_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA. 607 Fibronectin type-III 3. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GCCGCACCACGGGGGTGAAGG 0.716000 62 9 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291239 141291239 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:141291239G>A uc022cfj.1 - 0 535 c.535C>T c.(535-537)Cct>Tct p.P179S MAGEC2_uc004fbu.2_Missense_Mutation_p.P179S NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA. 179 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) AGTATCACAGGAAAGTAATCT 0.483000 HNSCC(46;0.14) 78 28 0 0 1 0 0 AACS 65985 broad.mit.edu 37 12 125570932 125570932 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:125570932G>A uc001uhc.3 + 3 621 c.415G>A c.(415-417)Gct>Act p.A139T AACS_uc009zyg.2_Non-coding_Transcript|AACS_uc001uhd.3_Missense_Mutation_p.A139T|AACS_uc009zyh.3_Non-coding_Transcript NM_023928 NP_076417 Q86V21 AACS_HUMAN Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA. 139 fatty acid metabolic process cytosol ATP binding|acetoacetate-CoA ligase activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) GCAAGAAGTGGCTTTGTTTGC 0.463000 117 9 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45624608 45624608 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:45624608C>T uc001wwd.4 + 7 1441 c.1342C>T c.(1342-1344)Cca>Tca p.P448S FANCM_uc001wwc.2_Missense_Mutation_p.P448S|FANCM_uc010anf.3_Missense_Mutation_p.P422S|FANCM_uc001wwe.4_Missense_Mutation_p.P53S NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA. 448 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TTATAGTCATCCAAAGTTAAA 0.259000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 10 3 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10719845 10719845 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:10719845G>A uc001aro.3 - 5 1574 c.1254C>T c.(1252-1254)gcC>gcT p.A418A CASZ1_uc001arp.1_Silent_p.A418A|CASZ1_uc009vmx.2_Silent_p.A442A|CASZ1_uc001arq.1_Silent_p.A277A NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA. 418 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) AGGACAGGGAGGCAGGAGGCT 0.682000 101 6 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48277183 48277183 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:48277183C>T uc002iqm.3 - 1 355 c.229G>A c.(229-231)Gag>Aag p.E77K NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 77 VWFC. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) TTCTTGGTCTCGTCACAGATC 0.682000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 136 15 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21035967 21035967 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:21035967G>A uc010vbe.2 - 38 5597 c.5597C>T c.(5596-5598)tCc>tTc p.S1866F NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 1866 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GTCCATGTAGGAATCCTTCAG 0.542000 32 4 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100680830 100680830 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:100680830C>T uc003uxp.1 + 2 6186 c.6133C>T c.(6133-6135)Cca>Tca p.P2045S MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2045 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACGGACCACTCCATTAGCAGG 0.502000 75 23 0 0 1 0 0 SLC25A2 83884 broad.mit.edu 37 5 140683343 140683343 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140683343G>A uc003ljf.3 - 0 270 c.90C>T c.(88-90)ttC>ttT p.F30F NM_031947 NP_114153 Q9BXI2 ORNT2_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA. 30 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity p.F30F(2)|p.P29P(1) breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) TTATTGTGTCGAAGGGCTGCC 0.597000 38 6 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54783979 54783979 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:54783979C>T uc004dtj.2 - 7 2558 c.2528G>A c.(2527-2529)gGa>gAa p.G843E NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA. 843 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity CAAGAGGATTCCAGGCCCCAG 0.507000 52 6 0 0 1 0 0 SSBP1 6742 broad.mit.edu 37 7 141443372 141443372 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:141443372G>A uc003vwo.1 + 3 175 c.97G>A c.(97-99)Gtg>Atg p.V33M SSBP1_uc011kri.1_Missense_Mutation_p.V33M|SSBP1_uc010lnp.1_Missense_Mutation_p.V33M NM_003143 NP_003134 Q04837 SSBP_HUMAN Homo sapiens single-stranded DNA binding protein 1 (SSBP1), nuclear gene encoding mitochondrial protein, mRNA. 33 SSB. DNA replication|positive regulation of helicase activity mitochondrial nucleoid single-stranded DNA binding large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1) 7 Melanoma(164;0.0171) CCTGAATCGTGTGCACTTACT 0.453000 69 18 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88423558 88423558 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:88423558G>A uc002bme.2 - 18 2583 c.2277C>T c.(2275-2277)atC>atT p.I759I NTRK3_uc002bmh.2_Silent_p.I737I|NTRK3_uc002bmf.2_Silent_p.I745I|NTRK3_uc021sua.1_Silent_p.I737I NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA. 759 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.Q759K(1) ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) TCTCCCAGAGGATCACCCCGA 0.527000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 60 7 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1437313 1437313 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:1437313G>A uc002qwr.3 + 3 369 c.283G>A c.(283-285)Gaa>Aaa p.E95K TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.E95K|TPO_uc002qww.3_Missense_Mutation_p.E95K|TPO_uc002qwx.3_Missense_Mutation_p.E95K|TPO_uc002qwu.3_Missense_Mutation_p.E95K|TPO_uc010yio.2_Missense_Mutation_p.E95K|TPO_uc010yip.2_Missense_Mutation_p.E95K NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 95 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) AGAGATAATGGAAACATCAAT 0.478000 27 5 0 0 1 0 0 MBD3L1 85509 broad.mit.edu 37 19 8953831 8953831 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:8953831G>A uc002mko.2 + 0 563 c.477G>A c.(475-477)ggG>ggA p.G159G NM_145208 NP_660209 Q8WWY6 MB3L1_HUMAN Homo sapiens methyl-CpG binding domain protein 3-like 1 (MBD3L1), mRNA. 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 12 AACAGGAAGGGAAAGTGAAGA 0.493000 23 5 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189868765 189868765 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:189868765C>T uc002uqj.1 + 38 2836 c.2719C>T c.(2719-2721)Cct>Tct p.P907S NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 907 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.G906V(1)|p.G906fs*5(1) NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GCCCCCAGGTCCTGCGGGTAA 0.547000 20 5 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6527202 6527202 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:6527202G>A uc001iji.1 - 8 1113 c.1029C>T c.(1027-1029)atC>atT p.I343I PRKCQ_uc001ijj.2_Silent_p.I310I|PRKCQ_uc009xim.2_Silent_p.I310I|PRKCQ_uc009xin.2_Silent_p.I274I|PRKCQ_uc010qax.2_Silent_p.I185I NM_006257 NP_006248 Q04759 KPCT_HUMAN Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA. 310 T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity p.Q342R(1)|p.Q342fs*17(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 CTTCTCTGAAGATCTGTTCAG 0.507000 69 13 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46834690 46834690 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:46834690G>A uc003oyo.3 - 12 2095 c.1806C>T c.(1804-1806)ttC>ttT p.F602F GPR116_uc011dwj.1_Silent_p.F157F|GPR116_uc011dwk.1_Silent_p.F31F|GPR116_uc003oyp.3_Silent_p.F460F|GPR116_uc003oyq.3_Silent_p.F602F|GPR116_uc010jzi.1_Silent_p.F274F NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 602 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) AACCCGTATGGAAAGTAACTT 0.403000 51 4 0 0 1 0 0 RELL1 768211 broad.mit.edu 37 4 37650952 37650952 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:37650952G>A uc003gsz.2 - 1 349 c.259C>T c.(259-261)Cgt>Tgt p.R87C RELL1_uc010ifc.3_Missense_Mutation_p.R87C NM_001085399 NP_001078869 Q8IUW5 RELL1_HUMAN Homo sapiens RELT-like 1 (RELL1), transcript variant 2, mRNA. 87 cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane endometrium(1)|large_intestine(3)|lung(1)|skin(1) 6 GTTGTACAACGATAGCCTTTC 0.433000 110 9 0 0 1 0 0 SUN5 140732 broad.mit.edu 37 20 31572946 31572946 + Nonsense_Mutation SNP G A A rs147686372 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:31572946G>A uc002wyi.3 - 11 1036 c.943C>T c.(943-945)Cag>Tag p.Q315* NM_080675 NP_542406 Q8TC36 SUN5_HUMAN Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA. 315 SUN. spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 GGCTGAAACTGAAATGCCCCC 0.567000 72 11 0 0 1 0 0 NXPH2 11249 broad.mit.edu 37 2 139428830 139428830 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:139428830G>A uc002tvi.3 - 1 457 c.457C>T c.(457-459)Ctg>Ttg p.L153L NM_007226 NP_009157 O95156 NXPH2_HUMAN Homo sapiens neurexophilin 2 (NXPH2), mRNA. 153 III. neuropeptide signaling pathway extracellular region endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3) 22 BRCA - Breast invasive adenocarcinoma(221;0.101) ACATTGCCCAGGCCTGTTGAA 0.438000 20 6 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126748898 126748898 + Silent SNP G C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:126748898G>C uc003ejg.3 + 26 5052 c.5052G>C c.(5050-5052)ctG>ctC p.L1684L PLXNA1_uc003ejh.3_Silent_p.L329L NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN Homo sapiens plexin A1 (PLXNA1), mRNA. 1684 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CACGGCTACTGGCCACCAAGG 0.637000 51 5 0 0 1 0 0 OR4D10 390197 broad.mit.edu 37 11 59245655 59245655 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:59245655C>T uc001nnz.1 + 0 753 c.753C>T c.(751-753)ttC>ttT p.F251F NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA. 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F249L(1)|p.P251T(1)|p.V250V(1) NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CCCTGCATTTCGTGCCCTGCA 0.547000 71 21 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130898849 130898849 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:130898849C>T uc001uil.2 - 13 2689 c.2473G>A c.(2473-2475)Gat>Aat p.D825N NM_015347 NP_056162 O15034 RIMB2_HUMAN Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA. 825 cell junction|synapse p.D824D(1) NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CGCCCGTAATCGTCTGCGAGC 0.572000 89 7 0 0 1 0 0 VN1R2 317701 broad.mit.edu 37 19 53762452 53762452 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:53762452G>A uc002qbi.2 + 0 908 c.824G>A c.(823-825)gGg>gAg p.G275E NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA. 275 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) TTGTGTCTGGGGCTCATGCTC 0.458000 137 6 0 0 1 0 0 SDPR 8436 broad.mit.edu 37 2 192700975 192700975 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:192700975G>A uc002utb.3 - 1 1307 c.952C>T c.(952-954)Ctg>Ttg p.L318L NM_004657 NP_004648 O95810 SDPR_HUMAN Homo sapiens serum deprivation response (SDPR), mRNA. 318 caveola|cytosol phosphatidylserine binding|protein binding p.D317H(1) NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) CTGCTAGGCAGGTCTTCTGAC 0.542000 96 18 0 0 1 0 0 FAM21B 55747 broad.mit.edu 37 10 47909221 47909221 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:47909221C>T uc009xni.3 + 9 791 c.791C>T c.(790-792)tCg>tTg p.S264L FAM21B_uc001jep.4_Missense_Mutation_p.S159L NM_018232 NP_060702 Q5SNT6 FA21B_HUMAN Homo sapiens family with sequence similarity 21, member B (FAM21B), mRNA. 264 retrograde transport, endosome to Golgi WASH complex|early endosome membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 GAGGACTTCTCGCCATTTGGC 0.527000 130 25 0 0 1 0 0 WAC 51322 broad.mit.edu 37 10 28872388 28872388 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:28872388C>T uc001iuf.3 + 3 423 c.335C>T c.(334-336)tCa>tTa p.S112L WAC_uc001iud.3_Missense_Mutation_p.S67L|WAC_uc001iue.3_Intron|WAC_uc009xlb.3_Missense_Mutation_p.S67L|WAC_uc001iug.3_Missense_Mutation_p.S112L|WAC_uc001iuh.3_Missense_Mutation_p.S67L NM_016628 NP_057712 Q9BTA9 WAC_HUMAN Homo sapiens WW domain containing adaptor with coiled-coil (WAC), transcript variant 1, mRNA. 112 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck RNA polymerase II core binding|chromatin binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 AGTTCAAATTCACATTCTTCT 0.318000 62 10 0 0 1 0 0 TRIP4 9325 broad.mit.edu 37 15 64701933 64701933 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:64701933C>T uc002anm.3 + 6 1009 c.949C>T c.(949-951)Cga>Tga p.R317* NM_016213 NP_057297 Q15650 TRIP4_HUMAN Homo sapiens thyroid hormone receptor interactor 4 (TRIP4), mRNA. 317 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 GAGAGAACTTCGACACGCCTC 0.453000 75 8 0 0 1 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48609802 48609802 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:48609802G>A uc010xzd.2 - 1 383 c.46C>T c.(46-48)Ctg>Ttg p.L16L PLA2G4C_uc002phw.3_5'Flank|PLA2G4C_uc010elr.3_5'UTR|PLA2G4C_uc002phx.3_5'UTR|PLA2G4C_uc002phy.4_5'UTR NM_001159322 NP_001152794 Q9UP65 PA24C_HUMAN Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA. 364 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) ACTGCGGTCAGAAAATTCTCA 0.517000 57 5 0 0 1 0 0 RASSF9 9182 broad.mit.edu 37 12 86198863 86198863 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:86198863C>T uc001taf.1 - 1 1264 c.925G>A c.(925-927)Gaa>Aaa p.E309K NM_005447 NP_005438 O75901 RASF9_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA. 309 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTTTCCAGTTCACTTGCAGCT 0.373000 149 15 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148037297 148037297 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:148037297G>A uc004fcp.3 + 10 2201 c.1722G>A c.(1720-1722)acG>acA p.T574T AFF2_uc004fcq.3_Silent_p.T564T|AFF2_uc004fcr.3_Silent_p.T535T|AFF2_uc011mxb.2_Silent_p.T539T|AFF2_uc004fcs.3_Silent_p.T541T|AFF2_uc011mxc.2_Silent_p.T215T NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 574 RNA splicing|brain development|mRNA processing|regulation of RNA splicing nuclear speck G-quadruplex RNA binding|protein binding p.T574T(3)|p.T215T(1)|p.T574M(1) breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) AAGTGAAGACGAATGCCAGTC 0.473000 86 9 0 0 1 0 0 DNAH12 201625 broad.mit.edu 37 3 57494115 57494115 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:57494115C>T uc003dit.2 - 6 876 c.695G>A c.(694-696)gGa>gAa p.G232E DNAH12_uc003diu.2_Missense_Mutation_p.G232E NM_178504 NP_848599 Q6ZR08 DYH12_HUMAN Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA. 232 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 TTACCTAATTCCTGTGAAGTC 0.294000 20 4 0 0 1 0 0 RBBP8 5932 broad.mit.edu 37 18 20570923 20570923 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:20570923C>T uc002kua.3 + 9 954 c.831C>T c.(829-831)ccC>ccT p.P277P RBBP8_uc002ktw.3_Silent_p.P277P|RBBP8_uc002kty.3_Silent_p.P277P|RBBP8_uc002ktz.3_Silent_p.P277P|RBBP8_uc002ktx.1_Silent_p.P277P NM_203291 NP_976036 Q99708 COM1_HUMAN Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA. 277 DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity p.S276N(1) central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) CCATGAGCCCCCTTGGTGATG 0.383000 Homologous recombination 15 5 0 0 1 0 0 SYT12 91683 broad.mit.edu 37 11 66802235 66802235 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:66802235T>A uc009yrl.3 + 2 384 c.154T>A c.(154-156)Tct>Act p.S52T SYT12_uc001oju.3_Missense_Mutation_p.S52T NM_001177880 NP_808878 Q8IV01 SYT12_HUMAN Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA. 52 cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 CCCCAGCCCCTCTCCGTTCCC 0.632000 57 7 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124358399 124358399 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:124358399G>A uc001lgk.1 + 25 3172 c.3066G>A c.(3064-3066)tgG>tgA p.W1022* DMBT1_uc001lgl.1_Nonsense_Mutation_p.W1012*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.W523*|DMBT1_uc021qaf.1_Nonsense_Mutation_p.W1022*|DMBT1_uc021qag.1_Nonsense_Mutation_p.W1012*|DMBT1_uc021qah.1_Nonsense_Mutation_p.W523*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.W1022*|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 1022 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ATGACAGCTGGGACACCAATG 0.612000 338 40 0 0 1 0 0 DAG1 1605 broad.mit.edu 37 3 49568970 49568970 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:49568970C>T uc021wxz.1 + 2 1495 c.1026C>T c.(1024-1026)ccC>ccT p.P342P DAG1_uc021wya.1_Silent_p.P342P|DAG1_uc021wyb.1_Silent_p.P342P|DAG1_uc021wyc.1_Silent_p.P342P|DAG1_uc021wyd.1_Silent_p.P342P|DAG1_uc021wye.1_Silent_p.P342P|DAG1_uc021wyf.1_Silent_p.P342P|DAG1_uc021wyg.1_Silent_p.P342P|DAG1_uc021wyh.1_Silent_p.P342P|DAG1_uc021wyi.1_Silent_p.P342P|DAG1_uc021wyj.1_Silent_p.P342P|DAG1_uc021wyk.1_Silent_p.P342P|DAG1_uc003cxc.4_Silent_p.P342P NM_001177643 NP_001171114 Q14118 DAG1_HUMAN Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA. 342 Mucin-like domain.|Required for laminin recognition.|Thr-rich. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) TGCCAACCCCCACATCTCCAG 0.627000 88 8 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140984964 140984964 + Missense_Mutation SNP A C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:140984964A>C uc011mwp.2 + 6 1420 c.1420A>C c.(1420-1422)Aaa>Caa p.K474Q MAGEC3_uc004fbs.3_Missense_Mutation_p.K176Q|MAGEC3_uc010nsj.3_Missense_Mutation_p.K176Q|MAGEC3_uc022cfh.1_Missense_Mutation_p.K176Q NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA. 474 MAGE 2. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) ATATCAAACAAAAGAGCCTGT 0.458000 36 7 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57992319 57992319 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:57992319C>T uc002emt.2 - 10 897 c.832G>A c.(832-834)Gaa>Aaa p.E278K CNGB1_uc010cdh.2_Missense_Mutation_p.E272K|CNGB1_uc002emu.2_Missense_Mutation_p.E278K NM_001297 NP_001288 Q14028 CNGB1_HUMAN Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA. 278 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 CTGACCTGTTCCCCTATTTTC 0.617000 54 8 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236914814 236914814 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:236914814G>A uc001hyf.2 + 14 1905 c.1701G>A c.(1699-1701)gaG>gaA p.E567E ACTN2_uc001hyg.2_Silent_p.E359E|ACTN2_uc009xgi.1_Silent_p.E567E|ACTN2_uc010pxu.1_Silent_p.E256E NM_001103 NP_001094 P35609 ACTN2_HUMAN Homo sapiens actinin, alpha 2 (ACTN2), mRNA. 567 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CGCTGCCCGAGGCGGACGGAG 0.522000 68 5 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109691019 109691019 + Missense_Mutation SNP C T T rs149337252 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:109691019C>T uc004bcz.3 + 2 5115 c.4826C>T c.(4825-4827)tCc>tTc p.S1609F MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.S1457F|ZNF462_uc004bda.3_Missense_Mutation_p.S1457F NM_021224 NP_067047 Q96JM2 ZN462_HUMAN Homo sapiens zinc finger protein 462 (ZNF462), mRNA. 1609 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 GATGTCTTTTCCCAGTCGCCC 0.542000 60 4 0 0 1 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52149148 52149148 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:52149148G>A uc002pxf.4 - 2 707 c.587C>T c.(586-588)tCg>tTg p.S196L NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA. 196 Ig-like C2-type 1. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) GGTGAGCTCCGAGGAGCGGGT 0.642000 19 7 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61497682 61497682 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:61497682C>T uc002jal.4 + 24 4362 c.4339C>T c.(4339-4341)Ccc>Tcc p.P1447S TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.P558S NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA. 1447 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 ACCCTCCTCTCCCCCGCATCG 0.582000 53 4 0 0 1 0 0 OR2Z1 284383 broad.mit.edu 37 19 8842024 8842024 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:8842024T>A uc010xkg.2 + 0 634 c.634T>A c.(634-636)Tcc>Acc p.S212T NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA. 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GCTCCCTCTTTCCCTCATCGC 0.592000 49 6 0 0 1 0 0 PRSS45 377047 broad.mit.edu 37 3 46786217 46786217 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:46786217C>T uc010hjl.3 - 0 64 c.29G>A c.(28-30)aGc>aAc p.S10N PRSS50_uc021wxe.1_Intron|PRSS50_uc011bam.2_Non-coding_Transcript NM_199183 NP_954652 Q7RTY3 PRS45_HUMAN Homo sapiens protease, serine, 45 (PRSS45), mRNA. 10 Peptidase S1. proteolysis serine-type endopeptidase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 CATCCGGAGGCTCACCTCCCA 0.597000 28 4 0 0 1 0 0 XPO7 23039 broad.mit.edu 37 8 21862530 21862530 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:21862530C>T uc003xaa.4 + 27 3297 c.3195C>T c.(3193-3195)ttC>ttT p.F1065F NM_015024 NP_055839 Q9UIA9 XPO7_HUMAN Homo sapiens exportin 7 (XPO7), mRNA. 1065 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) TGTCAGCATTCCGTCGAGAAG 0.468000 94 14 0 0 1 0 0 MYBPH 4608 broad.mit.edu 37 1 203143640 203143640 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:203143640G>A uc001gzh.1 - 2 485 c.426C>T c.(424-426)ctC>ctT p.L142L NM_004997 NP_004988 Q13203 MYBPH_HUMAN Homo sapiens myosin binding protein H (MYBPH), mRNA. 142 Fibronectin type-III 1. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) ACACGCGCAGGAGGAACTTGT 0.637000 45 4 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3633422 3633422 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:3633422G>A uc002cvp.2 - 13 5456 c.4829C>T c.(4828-4830)tCc>tTc p.S1610F NM_032444 NP_115820 Q8IY92 SLX4_HUMAN Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA. 1610 Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CTCGTCCTCGGAGTCTGAGTC 0.602000 Direct reversal of damage 90 13 0 0 1 0 0 PCDP1 200373 broad.mit.edu 37 2 120385251 120385251 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:120385251C>T uc002tmb.3 + 16 1793 c.681C>T c.(679-681)ttC>ttT p.F227F PCDP1_uc010yyq.2_Silent_p.F357F NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA. 513 cilium calmodulin binding Colorectal(110;0.196) TCAAATTCTTCCTGAGGCGGA 0.468000 95 7 0 0 1 0 0 HCN4 10021 broad.mit.edu 37 15 73616252 73616252 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:73616252C>T uc002avp.3 - 7 3176 c.2182G>A c.(2182-2184)Gac>Aac p.D728N NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA. 728 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) GAGTTGAGGTCGTGCTGGACT 0.592000 82 5 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51772866 51772866 + Missense_Mutation SNP G A A rs143319761 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:51772866G>A uc010ufy.2 - 23 6662 c.6437C>T c.(6436-6438)tCg>tTg p.S2146L DMXL2_uc002abd.3_Missense_Mutation_p.S216L|DMXL2_uc002abf.3_Missense_Mutation_p.S2146L|DMXL2_uc010bfa.3_Missense_Mutation_p.S1510L NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 2146 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CTGCAACCACGACTTTCGTCT 0.458000 88 7 0 0 1 0 0 SRM 6723 broad.mit.edu 37 1 11116698 11116698 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:11116698G>A uc001arz.1 - 3 589 c.498C>T c.(496-498)gcC>gcT p.A166A NM_003132 NP_003123 P19623 SPEE_HUMAN Homo sapiens spermidine synthase (SRM), mRNA. 166 spermidine biosynthetic process cytosol protein homodimerization activity|spermidine synthase activity large_intestine(1)|lung(1)|urinary_tract(1) 3 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.228) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) S-Adenosylmethionine(DB00118)|Spermine(DB00127) TCACGTCGAAGGCATCCTGAT 0.557000 53 4 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26739395 26739395 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:26739395G>A uc002rhk.3 - 4 527 c.400C>T c.(400-402)Ctg>Ttg p.L134L OTOF_uc010ylb.1_Non-coding_Transcript NM_194248 NP_919224 Q9HC10 OTOF_HUMAN Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA. 134 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCATCTCCCAGGAAGTCCCCA 0.642000 123 7 0 0 1 0 0 TRAK1 22906 broad.mit.edu 37 3 42244161 42244161 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:42244161C>T uc003cky.3 + 12 1877 c.1661C>T c.(1660-1662)tCc>tTc p.S554F TRAK1_uc011azh.2_Missense_Mutation_p.S554F|TRAK1_uc011azi.2_Missense_Mutation_p.S554F|TRAK1_uc003ckz.4_Missense_Mutation_p.S480F|TRAK1_uc011azj.2_Missense_Mutation_p.S480F|TRAK1_uc003cla.3_Missense_Mutation_p.S496F NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA. 554 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 TCCCGCTTCTCCGAGTTCACC 0.642000 62 8 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32513814 32513814 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:32513814C>T uc002yow.1 - 21 3956 c.3484G>A c.(3484-3486)Gac>Aac p.D1162N TIAM1_uc011adk.1_Missense_Mutation_p.D1162N|TIAM1_uc011adl.1_Missense_Mutation_p.D1102N NM_003253 NP_003244 Q13009 TIAM1_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA. 1162 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 AAAGCCGTGTCTGTCTTGGCT 0.562000 88 23 0 0 1 0 0 TBC1D22A 25771 broad.mit.edu 37 22 47193361 47193361 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:47193361C>T uc003bib.3 + 3 647 c.481C>T c.(481-483)Cct>Tct p.P161S TBC1D22A_uc010haf.3_Missense_Mutation_p.P131S|TBC1D22A_uc003bie.3_Intron|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.P114S NM_014346 NP_055161 Q8WUA7 TB22A_HUMAN Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA. 161 intracellular Rab GTPase activator activity|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) CGATGCCGCCCCTCTGCAGAG 0.637000 OREG0026659 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 86 12 0 0 1 0 0 C9orf131 138724 broad.mit.edu 37 9 35045536 35045536 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:35045536G>A uc003zvw.3 + 1 2939 c.2910G>A c.(2908-2910)ggG>ggA p.G970G C9orf131_uc003zvu.3_Silent_p.G922G|C9orf131_uc003zvv.3_Silent_p.G897G|C9orf131_uc003zvx.3_Silent_p.G935G NM_203299 NP_976044 Q5VYM1 CI131_HUMAN Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA. 970 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) CAGTCACAGGGAAGAACCACC 0.552000 52 6 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159644573 159644573 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:159644573G>A uc010kjv.3 + 6 980 c.780G>A c.(778-780)ttG>ttA p.L260L FNDC1_uc010kjw.1_Silent_p.L208L NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA. 260 Fibronectin type-III 3. extracellular region p.E259K(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) AGGACGAATTGGATGTACCTG 0.478000 23 6 0 0 1 0 0 IDO1 3620 broad.mit.edu 37 8 39780143 39780143 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:39780143G>A uc003xnm.3 + 5 624 c.510G>A c.(508-510)gtG>gtA p.V170V NM_002164 NP_002155 P14902 I23O1_HUMAN Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA. 170 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) CTCTATTGGTGGAAATAGCAG 0.408000 50 7 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73677856 73677856 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:73677856T>C uc002sje.1 + 7 4310 c.4199T>C c.(4198-4200)cTa>cCa p.L1400P ALMS1_uc002sjf.1_Missense_Mutation_p.L1358P|ALMS1_uc002sjg.3_Missense_Mutation_p.L788P|ALMS1_uc002sjh.1_Missense_Mutation_p.L788P NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 1400 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GGTAGTCATCTAACTGAAGAG 0.473000 31 3 0 0 1 0 0 KRT25 147183 broad.mit.edu 37 17 38906672 38906672 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:38906672C>T uc002hve.3 - 5 1196 c.1135G>A c.(1135-1137)Gaa>Aaa p.E379K NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN Homo sapiens keratin 25 (KRT25), mRNA. 379 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) GTCTCAATTTCTTTTTCCAGG 0.498000 141 12 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152323855 152323855 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152323855G>A uc001ezw.4 - 2 6480 c.6407C>T c.(6406-6408)tCa>tTa p.S2136L AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 2136 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCAGATCCTGACTCTCCATG 0.522000 105 21 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30700988 30700988 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:30700988G>A uc003xil.3 - 0 5546 c.5546C>T c.(5545-5547)cCa>cTa p.P1849L NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 1849 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTGTTTTCCTGGATACGAATG 0.338000 40 4 0 0 1 0 0 SPIC 121599 broad.mit.edu 37 12 101880303 101880303 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:101880303G>A uc001tid.3 + 5 660 c.501G>A c.(499-501)caG>caA p.Q167Q SPIC_uc010svp.2_Silent_p.Q167Q|SPIC_uc009zua.3_Silent_p.Q42Q|SPIC_uc021rcq.1_Silent_p.Q42Q NM_152323 NP_689536 Q8N5J4 SPIC_HUMAN Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA. 167 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 22 TGACTTACCAGAAAATGGCCA 0.428000 40 6 0 0 1 0 0 ADSL 158 broad.mit.edu 37 22 40761046 40761046 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:40761046C>T uc003ayp.4 + 11 1413 c.1354C>T c.(1354-1356)Cgt>Tgt p.R452C ADSL_uc003ays.4_Intron NM_000026 NP_000017 P30566 PUR8_HUMAN Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA. 452 R -> P (in ADSL deficiency; severe). AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity p.G451S(1) breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1) 19 TTTCACTGGTCGTGCCTCCCA 0.488000 95 7 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149901678 149901678 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:149901678G>A uc001etl.4 - 15 2029 c.1778C>T c.(1777-1779)cCt>cTt p.P593L SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Missense_Mutation_p.P521L NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA. 593 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) AGCAGGTCGAGGGAGCCAACG 0.597000 58 5 0 0 1 0 0 S100A8 6279 broad.mit.edu 37 1 153362985 153362985 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:153362985C>T uc001fbs.3 - 1 197 c.27G>A c.(25-27)ttG>ttA p.L9L NM_002964 NP_002955 P05109 S10A8_HUMAN Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA. 9 chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TGATAGAGTTCAAGGCTTTCT 0.507000 193 17 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16253978 16253978 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:16253978G>A uc002wpg.2 - 25 4033 c.3874C>T c.(3874-3876)Ctc>Ttc p.L1292F KIF16B_uc002wpe.1_Missense_Mutation_p.L644F|KIF16B_uc002wpf.1_Missense_Mutation_p.L633F|KIF16B_uc010gch.2_Missense_Mutation_p.L1241F NM_024704 NP_078980 Q96L93 KI16B_HUMAN Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA. 1292 PX. Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TGTTTCGAGAGAGTCAGTCCC 0.488000 72 5 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24350089 24350089 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:24350089G>A uc003xeb.3 + 14 1747 c.1634G>A c.(1633-1635)aGa>aAa p.R545K ADAM7_uc003xec.3_Missense_Mutation_p.R317K NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 545 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) AAGGAAAACAGATTTCTTCCC 0.388000 20 4 0 0 1 0 0 TNIP1 10318 broad.mit.edu 37 5 150416401 150416402 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:150416401_150416402GG>AA uc003lti.3 - 12 1585_1586 c.1344_1345CC>TT c.(1342-1347)gccctc>gcTTtc p.L449F TNIP1_uc011dcn.2_5'Flank|TNIP1_uc010jhq.2_Missense_Mutation_p.L396F|TNIP1_uc010jho.2_Non-coding_Transcript|TNIP1_uc010jhp.2_Missense_Mutation_p.L396F|TNIP1_uc010jhl.3_Non-coding_Transcript|TNIP1_uc010jhn.3_Missense_Mutation_p.L449F|TNIP1_uc010jhm.3_Missense_Mutation_p.L449F|TNIP1_uc010jhr.2_Missense_Mutation_p.L449F|TNIP1_uc011dco.2_Missense_Mutation_p.L449F|TNIP1_uc003ltg.3_Missense_Mutation_p.L396F|TNIP1_uc003ltk.3_Missense_Mutation_p.L449F|TNIP1_uc003ltj.3_Missense_Mutation_p.L449F|TNIP1_uc021ygb.1_Missense_Mutation_p.L449F NM_006058 NP_006049 Q15025 TNIP1_HUMAN Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA. 449 defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCCTTAGGAGGGCCCCTGCTC 0.574000 60 11 0 0 1 0 0 TTC21A 199223 broad.mit.edu 37 3 39162599 39162599 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:39162599C>T uc003cjc.2 + 8 1213 c.1036C>T c.(1036-1038)Ctg>Ttg p.L346L TTC21A_uc011ayx.1_Silent_p.L297L|TTC21A_uc003cjd.2_Non-coding_Transcript NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA. 346 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TCTCTTCATCCTGAAGAACCA 0.517000 47 5 0 0 1 0 0 TRGV3 6976 broad.mit.edu 37 7 38398313 38398313 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:38398313G>A uc003tgr.2 - 1 257 c.154C>T c.(154-156)Cac>Tac p.H52Y LOC100506776_uc003tgp.2_Intron RecName: Full=T-cell receptor gamma chain V region PT-gamma-1/2; Flags: Precursor; AGGTACCAGTGGATGTAGAAG 0.502000 108 6 0 0 1 0 0 OR2L1P 26247 broad.mit.edu 37 1 248154351 248154351 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:248154351C>T uc001idv.1 + 0 783 c.539C>T c.(538-540)cCa>cTa p.P180L OR2L13_uc001ids.3_Intron Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA. lung(11) 11 TATCTACGCCCAAGATCCCTG 0.512000 42 5 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102968334 102968334 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:102968334C>T uc002tbu.1 + 10 1895 c.1624C>T c.(1624-1626)Ccc>Tcc p.P542S IL18R1_uc002tbw.4_Intron NM_016232 NP_057316 Q01638 ILRL1_HUMAN Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA. 542 innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 AAGCAAAATTCCCAGAAAGGC 0.488000 80 5 0 0 1 0 0 APOL1 8542 broad.mit.edu 37 22 36661995 36661995 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:36661995G>A uc003ape.3 + 6 1435 c.1161G>A c.(1159-1161)ctG>ctA p.L387L APOL1_uc011amn.1_Silent_p.L248L|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Silent_p.L248L|APOL1_uc003apf.3_Silent_p.L371L|APOL1_uc011amp.2_Silent_p.L371L|APOL1_uc011amq.2_Silent_p.L353L|APOL1_uc010gwx.3_Silent_p.L248L NM_145343 NP_003652 O14791 APOL1_HUMAN Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA. 371 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 CTGAGGAGCTGAAGAAGGTGG 0.498000 53 9 0 0 1 0 0 FOCAD 54914 broad.mit.edu 37 9 20789480 20789480 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:20789480C>T uc003zog.1 + 12 1691 c.1328C>T c.(1327-1329)cCt>cTt p.P443L NM_017794 NP_060264 Q5VW36 K1797_HUMAN Homo sapiens KIAA1797 (KIAA1797), mRNA. 443 integral to membrane binding TCATTGCTTCCTATTACTGCT 0.448000 18 3 0 0 1 0 0 PLA2G6 8398 broad.mit.edu 37 22 38509556 38509556 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:38509556G>A uc003auy.1 - 14 2276 c.2140C>T c.(2140-2142)Ccc>Tcc p.P714S PLA2G6_uc003auz.1_Missense_Mutation_p.P660S|PLA2G6_uc003ava.1_Missense_Mutation_p.P714S|PLA2G6_uc003avb.2_Missense_Mutation_p.P660S|PLA2G6_uc010gxk.1_Non-coding_Transcript|BAIAP2L2_uc003auw.3_5'Flank|PLA2G6_uc003aux.1_Missense_Mutation_p.P105L NM_003560 NP_003551 O60733 PA2G6_HUMAN Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA. 714 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) AGCTCCCAGGGGTTGCTGGGA 0.607000 102 6 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106602632 106602632 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:106602632C>T uc021ser.1 - 1717 c.32800G>A Parts of antibodies, mostly variable regions. TCCATGTAGGCTGTGCTCGTG 0.507000 57 4 0 0 1 0 0 POLR3K 51728 broad.mit.edu 37 16 97479 97479 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:97479G>A uc002cfi.2 - 2 324 c.278C>T c.(277-279)aCc>aTc p.T93I NM_016310 NP_057394 Q9Y2Y1 RPC10_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa (POLR3K), mRNA. 93 innate immune response|response to virus|transcription from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|zinc ion binding central_nervous_system(1)|large_intestine(1)|skin(1) 3 all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) CTTGTAGAAGGTGGTCATCGG 0.552000 55 10 0 0 1 0 0 TCRBV12S3 0 broad.mit.edu 37 7 142206570 142206570 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:142206570G>A uc003vyj.2 - 1 332 c.285C>T c.(283-285)ctC>ctT p.L95L TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron SubName: Full=V_segment translation product; Flags: Fragment; ACTCCAGAGTGAGGGGGAAAT 0.527000 61 16 0 0 1 0 0 TAF7 6879 broad.mit.edu 37 5 140699256 140699256 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140699256C>T uc003ljg.3 - 0 1096 c.356G>A c.(355-357)aGc>aAc p.S119N NM_005642 NP_005633 Q15545 TAF7_HUMAN Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA. 119 negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTTTTCTTGCTTGCTTTAGG 0.438000 81 5 0 0 1 0 0 BNIP3L 665 broad.mit.edu 37 8 26265853 26265853 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:26265853C>T uc003xex.1 + 4 696 c.572C>T c.(571-573)cCa>cTa p.P191L BNIP3L_uc010luh.1_Missense_Mutation_p.P84L|BNIP3L_uc010lui.1_Missense_Mutation_p.P151L|BNIP3L_uc003xey.2_Missense_Mutation_p.P151L NM_004331 NP_004322 O60238 BNI3L_HUMAN Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 3-like (BNIP3L), mRNA. 191 apoptosis|defense response to virus|induction of apoptosis|interspecies interaction between organisms|mitochondrial protein catabolic process|negative regulation of survival gene product expression endoplasmic reticulum|integral to membrane|mitochondrial outer membrane|nuclear envelope lamin binding|protein heterodimerization activity|protein homodimerization activity large_intestine(3)|lung(1) 4 all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135) GTGTTCATTCCATCTCTCTTC 0.413000 101 7 0 0 1 0 0 ARHGAP4 393 broad.mit.edu 37 X 153184723 153184723 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:153184723G>A uc004fjk.2 - 5 754 c.696C>T c.(694-696)ttC>ttT p.F232F ARHGAP4_uc011mzf.2_Silent_p.F209F|ARHGAP4_uc004fjl.2_Silent_p.F272F|ARHGAP4_uc010nup.2_Non-coding_Transcript NM_001666 NP_001657 P98171 RHG04_HUMAN Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA. 232 Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGTGCTCCATGAACTTGGCCT 0.557000 41 5 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46790096 46790096 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:46790096G>A uc003bhw.1 - 13 5907 c.5907C>T c.(5905-5907)gcC>gcT p.A1969A CELSR1_uc011arc.1_Silent_p.A290A NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA. 1969 EGF-like 7; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding|protein dimerization activity p.C1968F(1) breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CTTTGCTGACGGCACAGTGGC 0.587000 68 5 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43233445 43233445 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:43233445G>A uc002oue.3 - 4 1205 c.1073C>T c.(1072-1074)tCt>tTt p.S358F PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.S358F NM_021016 NP_066296 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA. 358 Ig-like C2-type 3. Missing (in Ref. 9). defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) TGGTGGGTTAGAGTCCGCGAA 0.453000 85 15 0 0 1 0 0 CXXC11 285093 broad.mit.edu 37 2 242814281 242814281 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:242814281G>A uc010fzu.1 + 1 597 c.574G>A c.(574-576)Ggc>Agc p.G192S NM_173821 NP_776182 Q14D33 CB085_HUMAN Homo sapiens CXXC finger protein 11 (CXXC11), mRNA. 192 integral to membrane GTCCACCCCTGGCGACGACCT 0.677000 24 6 0 0 1 0 0 CD5L 922 broad.mit.edu 37 1 157803006 157803006 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:157803006C>T uc001frk.4 - 4 1158 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K NM_005894 NP_005885 O43866 CD5L_HUMAN Homo sapiens CD5 molecule-like (CD5L), mRNA. 339 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GCCACATCTTCCTGGTGGGTG 0.542000 73 14 0 0 1 0 0 RSPH4A 345895 broad.mit.edu 37 6 116938159 116938159 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:116938159C>T uc003pxe.2 + 0 518 c.373C>T c.(373-375)Cct>Tct p.P125S RSPH4A_uc010kee.2_Missense_Mutation_p.P125S NM_001010892 NP_001010892 Q5TD94 RSH4A_HUMAN Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA. 125 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GACACCTTATCCTGATCCTTT 0.517000 Kartagener syndrome 65 8 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8235322 8235322 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:8235322G>A uc003wsh.4 - 1 597 c.597C>T c.(595-597)gaC>gaT p.D199D NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA. 199 ATP binding|non-membrane spanning protein tyrosine kinase activity TGGAGGGCCGGTCTTGGTAAG 0.622000 74 6 0 0 1 0 0 IL1B 3553 broad.mit.edu 37 2 113588001 113588001 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:113588001G>A uc002tii.1 - 6 834 c.747C>T c.(745-747)ttC>ttT p.F249F IL1B_uc002tih.1_Silent_p.F218F NM_000576 NP_000567 P01584 IL1B_HUMAN Homo sapiens interleukin 1, beta (IL1B), mRNA. 249 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8) 12 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) TCCCTCCCAGGAAGACGGGCA 0.478000 110 15 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33427661 33427661 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:33427661C>T uc003tdn.1 + 18 2533 c.2020C>T c.(2020-2022)Cgg>Tgg p.R674W BBS9_uc003tdo.1_Missense_Mutation_p.R639W|BBS9_uc003tdp.1_Missense_Mutation_p.R669W|BBS9_uc003tdq.1_Missense_Mutation_p.R634W|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Missense_Mutation_p.R198W|BBS9_uc003tds.1_Missense_Mutation_p.R97W NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA. 674 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding p.R674L(1)|p.R674Q(1) BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TGTACAATTTCGGGCCATTCA 0.403000 Bardet-Biedl syndrome 134 19 0 0 1 0 0 TPSB2 64499 broad.mit.edu 37 16 1279642 1279642 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:1279642C>T uc002cky.3 - 2 181 c.158G>A c.(157-159)cGa>cAa p.R53Q TPSB2_uc010brk.1_Non-coding_Transcript|TPSB2_uc002ckx.3_5'UTR NM_024164 NP_077078 P20231 TRYB2_HUMAN Homo sapiens tryptase beta 2 (gene/pseudogene) (TPSB2), mRNA. 53 Peptidase S1. HGP -> RDR (in beta-III). proteolysis extracellular region protein binding|serine-type endopeptidase activity lung(1)|upper_aerodigestive_tract(1) 2 Hepatocellular(780;0.00369) CATCCAGTATCGGTCGCGGAC 0.701000 56 5 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30033975 30033975 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:30033975C>T uc021qfi.1 - 0 251 c.251G>A c.(250-252)aGg>aAg p.R84K KCNA4_uc001msk.3_Missense_Mutation_p.R84K NM_002233 NP_002224 P22459 KCNA4_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA. 84 RRRRQ -> EEEAT (in Ref. 1; AAA60034). voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity p.R83Q(2)|p.R84M(2) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 TCGCCTCCTCCTCCGACTACC 0.632000 60 5 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11511593 11511593 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:11511593C>T uc002gne.3 + 1 633 c.565C>T c.(565-567)Cca>Tca p.P189S DNAH9_uc002gnd.1_Missense_Mutation_p.P189S NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 189 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCTGCCTCTTCCAGCAGGCTC 0.507000 85 8 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90101239 90101239 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:90101239G>A uc003kju.3 + 71 14896 c.14800G>A c.(14800-14802)Gaa>Aaa p.E4934K GPR98_uc003kjt.3_Missense_Mutation_p.E2640K|GPR98_uc003kjw.3_Missense_Mutation_p.E595K NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 4934 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGAAATTCCTGAATTCATTGT 0.458000 28 8 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65909211 65909212 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:65909211_65909212CC>TT uc002jgf.3 + 10 5272_5273 c.5211_5212CC>TT c.(5209-5214)atccga>atTTga p.R1738* BPTF_uc002jge.3_Nonsense_Mutation_p.R1864* NM_182641 NP_872579 Q12830 BPTF_HUMAN Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA. 1864 Thr-rich. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex|cytoplasm sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) AAGGAGGAATCCGAGAGGTCCC 0.406000 84 12 0 0 1 0 0 DHX33 56919 broad.mit.edu 37 17 5353595 5353595 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:5353595G>A uc002gca.3 - 9 1857 c.1656C>T c.(1654-1656)ttC>ttT p.F552F DHX33_uc002gbz.3_Silent_p.F323F|DHX33_uc002gcb.3_Silent_p.F379F|DHX33_uc010clf.3_Silent_p.F387F NM_020162 NP_001186628 Q9H6R0 DHX33_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 33 (DHX33), transcript variant 1, mRNA. 552 nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 CGCTGGATATGAACTTCTTGC 0.542000 163 15 0 0 1 0 0 FBL 2091 broad.mit.edu 37 19 40328403 40328403 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:40328403G>A uc002omn.3 - 5 744 c.630C>T c.(628-630)atC>atT p.I210I FBL_uc002omm.1_Silent_p.I124I|FBL_uc002omo.2_Silent_p.I209I NM_001436 NP_001427 P22087 FBRL_HUMAN Homo sapiens fibrillarin (FBL), mRNA. 210 rRNA processing|tRNA processing Cajal body|box C/D snoRNP complex RNA binding|methyltransferase activity|protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1) 9 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) TCACAGGAATGATGTTGGTCC 0.532000 85 9 0 0 1 0 0 MSL3P1 151507 broad.mit.edu 37 2 234774931 234774931 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:234774931G>A uc010znf.2 - 1 1149 c.911C>T c.(910-912)tCc>tTc p.S304F Homo sapiens male-specific lethal 3 homolog (Drosophila) pseudogene 1 (MSL3P1), non-coding RNA. CTCAGTAAAGGACATTTTTCC 0.438000 46 7 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61511407 61511407 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:61511407G>A uc002ydr.2 - 15 6213 c.5901C>T c.(5899-5901)ttC>ttT p.F1967F DIDO1_uc002yds.2_Silent_p.F1967F NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 1967 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TCTGGTCTTCGAACTGCTGAG 0.572000 248 36 0 0 1 0 0 RBBP4 5928 broad.mit.edu 37 1 33134452 33134452 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:33134452C>T uc001bvr.3 + 4 756 c.597C>T c.(595-597)gaC>gaT p.D199D RBBP4_uc001bvs.3_Silent_p.D198D|RBBP4_uc010ohj.2_5'UTR|RBBP4_uc010ohk.2_Silent_p.D164D NM_005610 NP_001128728 Q09028 RBBP4_HUMAN Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA. 199 CenH3-containing nucleosome assembly at centromere|DNA replication|cell cycle|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|ESC/E(Z) complex|NURF complex|NuRD complex|Sin3 complex histone binding|histone deacetylase binding p.D199G(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) CTTCAGATGACCATGTGTGTA 0.458000 61 4 0 0 1 0 0 DIO3 1735 broad.mit.edu 37 14 102028440 102028440 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:102028440C>T uc021sdx.1 + 0 753 c.607C>T c.(607-609)Ccc>Tcc p.P203S DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank NM_001362 NP_001353 P55073 IOD3_HUMAN Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA. 177 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) GGAAGCGCACCCCTCCGACGG 0.637000 96 9 0 0 1 0 0 CD1C 911 broad.mit.edu 37 1 158262155 158262155 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:158262155G>A uc001fru.3 + 3 902 c.610_splice c.e3+1 p.V204_splice CD1C_uc021pbl.1_5'Flank NM_001765 NP_001756 P29017 CD1C_HUMAN Homo sapiens CD1c molecule (CD1C), mRNA. 204 T cell activation involved in immune response|antigen processing and presentation endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) ACACAGGCAAGGTCAGTAGTT 0.463000 138 8 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94054921 94054921 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:94054921G>A uc003ung.1 + 43 3253 c.2782_splice c.e43-1 p.G928_splice COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. 928 Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGTCTTCACAGGGCAACCCTG 0.488000 HNSCC(75;0.22) 25 4 0 0 1 0 0 IPO13 9670 broad.mit.edu 37 1 44432451 44432451 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:44432451C>T uc001ckx.3 + 16 3315 c.2520C>T c.(2518-2520)ttC>ttT p.F840F IPO13_uc001cky.3_Silent_p.F58F NM_014652 NP_055467 O94829 IPO13_HUMAN Homo sapiens importin 13 (IPO13), mRNA. 840 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CCTGTGGCTTCTTTGTGAGTC 0.587000 30 6 0 0 1 0 0 ACRV1 56 broad.mit.edu 37 11 125547733 125547733 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:125547733C>T uc001qcs.3 - 1 630 c.512G>A c.(511-513)gGg>gAg p.G171E ACRV1_uc001qcl.3_Missense_Mutation_p.G101E|ACRV1_uc001qcn.3_Missense_Mutation_p.G116E|ACRV1_uc001qcr.3_Intron NM_001612 NP_001603 P26436 ASPX_HUMAN Homo sapiens acrosomal vesicle protein 1 (ACRV1), transcript variant 1, mRNA. 171 9 X 5 AA repeats of [SV]-G-E-Q-[PSA]. multicellular organismal development acrosomal vesicle kidney(1)|large_intestine(3)|lung(2) 6 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713) AGCCTGTTCCCCTGAAGCGTG 0.542000 35 10 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73065338 73065338 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:73065338G>A uc004ebm.1 - 0 c.7251C>T Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. GAAGGGAAAGGAAGATTGGAG 0.463000 24 5 0 0 1 0 0 RNF169 254225 broad.mit.edu 37 11 74546825 74546826 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:74546825_74546826CC>TT uc001ovl.4 + 5 1190_1191 c.1177_1178CC>TT c.(1177-1179)ccc>TTc p.P393F XRRA1_uc001ovm.2_Intron NM_001098638 NP_001092108 Q8NCN4 RN169_HUMAN Homo sapiens ring finger protein 169 (RNF169), mRNA. 393 zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 15 ATGTACTCCTCCCAAGAGACTC 0.505000 77 4 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152285991 152285991 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152285991C>T uc001ezu.1 - 2 1407 c.1371G>A c.(1369-1371)cgG>cgA p.R457R AK056431_uc001ezv.3_Non-coding_Transcript NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 457 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.R457L(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTTCCCCTGACCGGCCACGTG 0.587000 Ichthyosis 155 23 0 0 1 0 0 TMEM100 55273 broad.mit.edu 37 17 53798418 53798418 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:53798418G>A uc002iuj.4 - 1 325 c.14C>T c.(13-15)cCc>cTc p.P5L TMEM100_uc002iuk.4_Missense_Mutation_p.P5L|TMEM100_uc021uai.1_Missense_Mutation_p.P5L NM_018286 NP_060756 Q9NV29 TM100_HUMAN Homo sapiens transmembrane protein 100 (TMEM100), transcript variant 2, mRNA. 5 integral to membrane cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 11 CTCCTTGATGGGCTCTTCAGT 0.502000 29 4 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771320 143771320 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:143771320G>A uc011ktx.2 + 0 8 c.8G>A c.(7-9)gGa>gAa p.G3E NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) GAAATGGGGGGAAATCAGACT 0.448000 72 6 0 0 1 0 0 LEPRE1 64175 broad.mit.edu 37 1 43212831 43212831 + Missense_Mutation SNP C T T rs146002380 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:43212831C>T uc001chx.4 - 13 2280 c.2167G>A c.(2167-2169)Gaa>Aaa p.E723K LEPRE1_uc001chw.2_Intron|LEPRE1_uc001chv.2_Intron NM_001243246 NP_001230175 Q32P28 P3H1_HUMAN Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA. 0 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3) 26 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GTGCTCCTTTCGTGTCTCAGC 0.587000 87 17 0 0 1 0 0 IL1RN 3557 broad.mit.edu 37 2 113887169 113887169 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:113887169C>T uc002tjb.3 + 1 197 c.133C>T c.(133-135)Cag>Tag p.Q45* IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Nonsense_Mutation_p.Q48*|IL1RN_uc002tiy.3_Nonsense_Mutation_p.Q11*|IL1RN_uc002tja.3_Nonsense_Mutation_p.Q27* NM_173842 NP_776215 P18510 IL1RA_HUMAN Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA. 45 immune response|inflammatory response|response to glucocorticoid stimulus centrosome|extracellular space|nucleus|plasma membrane cytokine activity|interleukin-1 receptor antagonist activity breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 10 Anakinra(DB00026) GGATGTTAACCAGAAGACCTT 0.483000 Lichen Sclerosis et Atrophicus, Familial Clustering of 112 14 0 0 1 0 0 ODZ2 57451 broad.mit.edu 37 5 167617384 167617384 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:167617384C>T uc010jjd.3 + 13 2585 c.2585C>T c.(2584-2586)tCa>tTa p.S862L ODZ2_uc003lzr.4_Missense_Mutation_p.S639L|ODZ2_uc003lzt.4_Missense_Mutation_p.S235L|ODZ2_uc010jje.3_Missense_Mutation_p.S133L NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TGCCTGCAGTCAGCCTGTCAG 0.582000 15 4 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92531011 92531011 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:92531011G>A uc001pdj.4 + 8 4849 c.4832G>A c.(4831-4833)gGg>gAg p.G1611E NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 1611 Cadherin 15. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGGAACACTGGGAACATGTTT 0.398000 TCGA Ovarian(4;0.039) 52 8 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25667891 25667891 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:25667891C>T uc003grr.3 + 4 602 c.521C>T c.(520-522)tCa>tTa p.S174L SLC34A2_uc003grs.3_Missense_Mutation_p.S173L|SLC34A2_uc010iev.3_Missense_Mutation_p.S173L NM_006424 NP_006415 O95436 NPT2B_HUMAN Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA. 174 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) GTGTCCTCTTCATGTGAGTCG 0.572000 T ROS1 NSCLC 55 5 0 0 1 0 0 FCAMR 83953 broad.mit.edu 37 1 207133126 207133126 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:207133126C>T uc001hfa.4 - 6 1971 c.1471G>A c.(1471-1473)Gaa>Aaa p.E491K FCAMR_uc001hfb.3_Missense_Mutation_p.M223I|FCAMR_uc009xca.2_Missense_Mutation_p.M223I NM_001170631 NP_001164102 Q8WWV6 FCAMR_HUMAN Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA. 446 integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1) 11 GAGCTGCTTTCATCTTCTGGA 0.507000 88 14 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322618 55322618 + Missense_Mutation SNP G A A rs72140406 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:55322618G>A uc010rig.2 + 0 836 c.836G>A c.(835-837)aGa>aAa p.R279K NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA. 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L278P(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 CTCTCTCTGAGAACACACAGT 0.443000 HNSCC(20;0.049) 63 4 0 0 1 0 0 CYTH3 9265 broad.mit.edu 37 7 6205193 6205193 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:6205193C>T uc003spt.3 - 10 1059 c.955G>A c.(955-957)Gag>Aag p.E319K CYTH3_uc011jws.2_Missense_Mutation_p.E234K NM_004227 NP_004218 O43739 CYH3_HUMAN Homo sapiens cytohesin 3 (CYTH3), mRNA. 320 PH. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|membrane fraction|plasma membrane 1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1) 19 CGGGGGTCCTCCACCTCCCTG 0.612000 84 24 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885275 88885275 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:88885275C>T uc003ydz.3 - 0 1022 c.925G>A c.(925-927)Gaa>Aaa p.E309K NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA. 309 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 ACATGACCTTCGTACTGTGTT 0.517000 46 5 0 0 1 0 0 SPATA21 374955 broad.mit.edu 37 1 16736383 16736383 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:16736383C>T uc001ayn.3 - 5 783 c.300G>A c.(298-300)cgG>cgA p.R100R SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Silent_p.R77R NM_198546 NP_940948 Q7Z572 SPT21_HUMAN Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA. 100 calcium ion binding breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) TCGAGGCTCTCCGATGGGAGG 0.662000 54 6 0 0 1 0 0 ATP8A2 51761 broad.mit.edu 37 13 26402264 26402264 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:26402264C>T uc001uqk.3 + 27 2830 c.2688C>T c.(2686-2688)ttC>ttT p.F896F ATP8A2_uc010tdi.2_Intron|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Silent_p.F446F NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA. 856 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.F896F(2) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) AGCTTTGGTTCGCCTTTGTTA 0.403000 102 13 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71797810 71797810 + Missense_Mutation SNP G A A rs150877497 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:71797810G>A uc010fen.3 + 28 3308 c.3167G>A c.(3166-3168)cGa>cAa p.R1056Q DYSF_uc010fei.3_Missense_Mutation_p.R1055Q|DYSF_uc010feh.3_Missense_Mutation_p.R1024Q|DYSF_uc002sig.4_Missense_Mutation_p.R1024Q|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R1069Q|DYSF_uc010fee.3_Missense_Mutation_p.R1038Q|DYSF_uc010fef.3_Missense_Mutation_p.R1055Q|DYSF_uc002sie.3_Missense_Mutation_p.R1038Q|DYSF_uc010feo.3_Missense_Mutation_p.R1070Q|DYSF_uc010fej.3_Missense_Mutation_p.R1025Q|DYSF_uc010fel.3_Missense_Mutation_p.R1025Q|DYSF_uc010fem.3_Missense_Mutation_p.R1039Q|DYSF_uc002sif.3_Missense_Mutation_p.R1039Q|DYSF_uc010fek.3_Missense_Mutation_p.R1056Q NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 1038 Arg-rich. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TACACACACCGACGGCGGCGC 0.642000 31 6 0 0 1 0 0 MFI2 4241 broad.mit.edu 37 3 196754651 196754651 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:196754651G>A uc003fxk.4 - 1 294 c.180C>T c.(178-180)gcC>gcT p.A60A MFI2_uc003fxl.4_Silent_p.A60A|MFI2_uc011bua.2_Silent_p.A60A NM_005929 NP_005920 P08582 TRFM_HUMAN Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA. 60 Transferrin-like 1. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) CGCAGTGGTCGGCGGAGGTGC 0.662000 10 4 0 0 1 0 0 USP44 84101 broad.mit.edu 37 12 95927357 95927357 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:95927357C>T uc001teg.3 - 1 820 c.676G>A c.(676-678)Gaa>Aaa p.E226K USP44_uc001teh.3_Missense_Mutation_p.E226K|USP44_uc009zte.3_Missense_Mutation_p.E223K NM_001042403 NP_115523 Q9H0E7 UBP44_HUMAN Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA. 226 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.E226Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 GAAACTATTTCTATTATGGTC 0.408000 37 5 0 0 1 0 0 GGTLC1 92086 broad.mit.edu 37 20 23966723 23966723 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:23966723G>A uc002wts.3 - 2 427 c.294C>T c.(292-294)ttC>ttT p.F98F GGTLC1_uc002wtu.3_Silent_p.F98F|DQ583395_uc021wbk.1_5'Flank NM_178312 NP_842564 Q9BX51 GGTL1_HUMAN Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA. 98 gamma-glutamyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 CTGGCTGGATGAAATTGGCAG 0.612000 101 7 0 0 1 0 0 PARVB 29780 broad.mit.edu 37 22 44514923 44514923 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:44514923C>T uc003bem.3 + 4 508 c.378C>T c.(376-378)ctC>ctT p.L126L PARVB_uc003ben.3_Silent_p.L93L|PARVB_uc010gzn.3_Silent_p.L41L|PARVB_uc003beo.3_Silent_p.L56L NM_001003828 NP_001003828 Q9HBI1 PARVB_HUMAN Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA. 93 CH 1. cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Ovarian(80;0.0246)|all_neural(38;0.0423) TGCAGGTCCTCCTCGACTGGA 0.572000 108 7 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43122227 43122227 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:43122227G>A uc001zqo.2 - 4 780 c.341C>T c.(340-342)aCc>aTc p.T114I TTBK2_uc010bcy.2_Missense_Mutation_p.T45I|TTBK2_uc001zqp.3_Missense_Mutation_p.T114I NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA. 114 Protein kinase. cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) GGTACTAATGGTGAATGTGCC 0.443000 32 4 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109104200 109104200 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:109104200C>T uc002tec.3 + 16 4130 c.3976C>T c.(3976-3978)Cga>Tga p.R1326* GCC2_uc002ted.3_Nonsense_Mutation_p.R1225* NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA. 1326 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 CTACAAAGTCCGAGTTCATAA 0.358000 44 7 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24784088 24784088 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:24784088G>A uc001iru.4 + 7 2200 c.1797G>A c.(1795-1797)atG>atA p.M599I KIAA1217_uc001irs.3_Missense_Mutation_p.M519I|KIAA1217_uc001irt.4_Missense_Mutation_p.M564I|KIAA1217_uc010qcy.2_Missense_Mutation_p.M564I|KIAA1217_uc010qcz.2_Missense_Mutation_p.M564I|KIAA1217_uc001irv.1_Missense_Mutation_p.M414I|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.M282I|KIAA1217_uc001irz.3_Missense_Mutation_p.M282I|KIAA1217_uc001irx.3_Missense_Mutation_p.M282I|KIAA1217_uc001iry.3_Missense_Mutation_p.M282I NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 599 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AGAAAATGATGAAAACCACAG 0.433000 30 4 0 0 1 0 0 ARSG 22901 broad.mit.edu 37 17 66339802 66339802 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:66339802C>T uc002jhc.2 + 2 1072 c.276C>T c.(274-276)ctC>ctT p.L92L NM_014960 NP_055775 Q96EG1 ARSG_HUMAN Homo sapiens arylsulfatase G (ARSG), mRNA. 92 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 26 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) CTTCCTTGCTCACCGGCCGGC 0.607000 68 10 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 10996533 10996533 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:10996533C>T uc002daj.4 + 7 783 c.650C>T c.(649-651)tCg>tTg p.S217L CIITA_uc002dai.4_Missense_Mutation_p.S216L|CIITA_uc002dak.4_Missense_Mutation_p.S167L|CIITA_uc002dag.2_Missense_Mutation_p.S216L|CIITA_uc002dah.2_Missense_Mutation_p.S168L|CIITA_uc010bup.1_Missense_Mutation_p.S216L NM_000246 NP_000237 P33076 C2TA_HUMAN Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA. 216 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 TCCAGTTCCTCGTTGAGCTGC 0.522000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 49 10 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36779221 36779221 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:36779221C>T uc003cgi.2 - 1 1421 c.930G>A c.(928-930)agG>agA p.R310R NM_033403 NP_208382 Q9C098 DCLK3_HUMAN Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA. 310 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 TGAGAGTCATCCTTCTGCCTC 0.572000 141 9 0 0 1 0 0 PRPF6 24148 broad.mit.edu 37 20 62654191 62654191 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:62654191T>G uc002yho.3 + 12 1897 c.1729T>G c.(1729-1731)Tgg>Ggg p.W577G PRPF6_uc002yhp.3_Missense_Mutation_p.W577G NM_012469 NP_036601 O94906 PRP6_HUMAN Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA. 577 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) GAAGAGTGTGTGGCTGCGCGC 0.577000 53 9 0 0 1 0 0 LYZL1 84569 broad.mit.edu 37 10 29581596 29581596 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:29581596C>T uc001iul.3 + 2 483 c.426C>T c.(424-426)gtC>gtT p.V142V NM_032517 NP_115906 Q6UWQ5 LYZL1_HUMAN Homo sapiens lysozyme-like 1 (LYZL1), mRNA. 96 cell wall macromolecule catabolic process extracellular region lysozyme activity p.V142V(2) central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1) 11 Breast(68;0.203) ACTGCCATGTCGCCTGCTCAG 0.537000 101 7 0 0 1 0 0 GIPC2 54810 broad.mit.edu 37 1 78560802 78560802 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:78560802C>T uc001dik.3 + 2 783 c.593C>T c.(592-594)cCt>cTt p.P198L 5S_rRNA_uc021oov.1_5'Flank NM_017655 NP_060125 Q8TF65 GIPC2_HUMAN Homo sapiens GIPC PDZ domain containing family, member 2 (GIPC2), mRNA. 198 cytoplasm endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2) 20 TTAATAGAACCTAAGAAGGCA 0.383000 44 5 0 0 1 0 0 PSMA5 5686 broad.mit.edu 37 1 109964529 109964529 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:109964529G>A uc001dxn.3 - 1 167 c.49C>T c.(49-51)Ccc>Tcc p.P17S PSMA5_uc010ovj.2_Intron|PSMA5_uc021ord.1_5'UTR|PSMA5_uc021ore.1_5'UTR NM_002790 NP_001186703 P28066 PSA5_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 5 (PSMA5), transcript variant 1, mRNA. 17 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2) 5 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235) CTTCCTTCGGGAGAAAAAGTA 0.338000 171 10 0 0 1 0 0 GDF3 9573 broad.mit.edu 37 12 7843217 7843217 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:7843217C>T uc001qte.3 - 1 388 c.352G>A c.(352-354)Gaa>Aaa p.E118K NM_020634 NP_065685 Q9NR23 GDF3_HUMAN Homo sapiens growth differentiation factor 3 (GDF3), mRNA. 118 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 TGTTCCCTTTCTTTGATGGCA 0.488000 89 9 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167097246 167097246 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:167097246G>A uc001geb.1 + 4 2894 c.2878G>A c.(2878-2880)Ggg>Agg p.G960R NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA. 960 Ser-rich. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 AAGTTCCAGAGGGAAGTACAC 0.488000 24 5 0 0 1 0 0 OR4C13 283092 broad.mit.edu 37 11 49974046 49974046 + Silent SNP C T T rs146933611 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:49974046C>T uc010rhz.2 + 0 104 c.72C>T c.(70-72)atC>atT p.I24I NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA. 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 TGCAGAAAATCATATTTGTTG 0.388000 30 5 0 0 1 0 0 NPY5R 4889 broad.mit.edu 37 4 164272066 164272066 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:164272066C>A uc003iqn.3 + 3 823 c.641C>A c.(640-642)tCt>tAt p.S214Y NPY5R_uc021xtw.1_Missense_Mutation_p.S214Y NM_006174 NP_006165 Q15761 NPY5R_HUMAN Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA. 214 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) TTTACTATCTCTTTATTGCTA 0.383000 97 8 0.00307968 0.00310426 1 1 0 YME1L1 10730 broad.mit.edu 37 10 27437927 27437927 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:27437927G>A uc001iti.3 - 1 286 c.76C>T c.(76-78)Cca>Tca p.P26S YME1L1_uc001itj.3_Missense_Mutation_p.P26S|YME1L1_uc010qdl.2_Missense_Mutation_p.P26S|YME1L1_uc001itk.2_Missense_Mutation_p.P26S NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 26 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 GTGTTTTTTGGTGTATGGAAG 0.378000 164 51 0 0 1 0 0 SP110 3431 broad.mit.edu 37 2 231036812 231036812 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:231036812C>T uc002vqg.3 - 15 2025 c.1785G>A c.(1783-1785)ctG>ctA p.L595L SP110_uc002vqh.3_Silent_p.L595L NM_080424 NP_536349 Q9HB58 SP110_HUMAN Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA. 595 Bromo. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) TCTGCCTCTCCAGGGTCTTAG 0.522000 105 11 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 144821989 144821989 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:144821989C>T uc009wig.1 + 13 1894 c.1700C>T c.(1699-1701)tCa>tTa p.S567L NBPF10_uc010oxo.1_Missense_Mutation_p.S569L|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Intron|NBPF10_uc009wii.1_Missense_Mutation_p.S298L|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.S229L NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 569 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TCGACTCCCTCAATTCCTCCT 0.502000 99 6 0 0 1 0 0 CD300A 11314 broad.mit.edu 37 17 72477888 72477888 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:72477888C>T uc002jkv.3 + 5 1011 c.690C>T c.(688-690)caC>caT p.H230H CD300A_uc002jkw.3_Silent_p.H117H|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Silent_p.H34H NM_007261 NP_009192 Q9UGN4 CLM8_HUMAN Homo sapiens CD300a molecule (CD300A), mRNA. 230 cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 GTGAGCTGCACTACGCAAATC 0.622000 16 5 0 0 1 0 0 RBM14 10432 broad.mit.edu 37 11 66391954 66391954 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:66391954C>T uc001oit.3 + 1 746 c.607C>T c.(607-609)Cgt>Tgt p.R203C RBM14_uc009yri.3_Intron|RBM14_uc009yrh.3_Intron|RBM14_uc009yrj.3_Intron|RBM14_uc009yrk.3_Intron|RBM14_uc021qmb.1_Intron|RBM14_uc021qmc.1_5'Flank NM_006328 NP_006319 Q96PK6 RBM14_HUMAN Homo sapiens RNA binding motif protein 14 (RBM14), transcript variant 1, mRNA. 203 DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex RNA binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 TGGGCAAGCCCGTCAGCCCAC 0.632000 46 4 0 0 1 0 0 CYTIP 9595 broad.mit.edu 37 2 158272366 158272366 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:158272366C>T uc002tzj.1 - 7 975 c.903G>A c.(901-903)agG>agA p.R301R CYTIP_uc010zcl.1_Silent_p.R195R NM_004288 NP_004279 O60759 CYTIP_HUMAN Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA. 301 Ser-rich. regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 TGCTCCGGTTCCTCCTTGAAG 0.547000 36 5 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228846565 228846565 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:228846565G>A uc002vpq.2 - 11 5018 c.4971C>T c.(4969-4971)gtC>gtT p.V1657V SPHKAP_uc002vpp.2_Silent_p.V1628V|SPHKAP_uc010zlx.1_3'UTR NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 1657 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CCAGCTGCACGACATCTAGAA 0.498000 11 3 0 0 1 0 0 C19orf47 126526 broad.mit.edu 37 19 40842102 40842102 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:40842102T>A uc002oni.4 - 3 249 c.248A>T c.(247-249)aAt>aTt p.N83I C19orf47_uc002ong.3_5'UTR|C19orf47_uc002onh.3_Missense_Mutation_p.N16I NM_178830 NP_849152 Q8N9M1 CS047_HUMAN Homo sapiens chromosome 19 open reading frame 47 (C19orf47), mRNA. 83 endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Lung(22;0.000636) TATCTCCTTATTGAGATCCAG 0.597000 52 8 0 0 1 0 0 PER2 8864 broad.mit.edu 37 2 239161929 239161929 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:239161929G>A uc002vyc.3 - 18 2972 c.2735C>T c.(2734-2736)tCc>tTc p.S912F PER2_uc010znv.1_Missense_Mutation_p.S912F NM_022817 NP_073728 O15055 PER2_HUMAN Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA. 912 Pro-rich. circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) CGAGGGGAAGGAATAACTGGG 0.627000 72 24 0 0 1 0 0 TBX3 6926 broad.mit.edu 37 12 115120642 115120642 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:115120642C>T uc001tvt.1 - 0 1328 c.364G>A c.(364-366)Gag>Aag p.E122K TBX3_uc001tvu.1_Missense_Mutation_p.E122K|TBX3_uc010syw.1_Missense_Mutation_p.E122K NM_016569 NP_057653 O15119 TBX3_HUMAN Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA. 122 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) ATGACCATCTCGGTGCCCCGC 0.542000 82 8 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6714447 6714448 + Missense_Mutation DNP CC AT AT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:6714447_6714448CC>AT uc002mfm.3 - 4 576_577 c.514_515GG>AT c.(514-516)ggc>ATc p.G172I NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 172 G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GACCGGGATGCCTTCCGGGTTC 0.564000 33 9 0 0 1 0 0 NCAPH2 29781 broad.mit.edu 37 22 50960660 50960660 + Missense_Mutation SNP C T T rs143986871 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:50960660C>T uc003blx.4 + 13 1335 c.1213C>T c.(1213-1215)Cgg>Tgg p.R405W NCAPH2_uc003blv.3_Missense_Mutation_p.R405W|NCAPH2_uc003blr.4_Missense_Mutation_p.R405W NM_001185011 NP_001171940 Q6IBW4 CNDH2_HUMAN Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA. 405 chromosome condensation chromosome|nucleus breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1) 24 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) GGAAACTCTCCGGAAGCTGCA 0.607000 51 4 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15367917 15367917 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:15367917G>A uc002nar.3 - 7 1631 c.1409C>T c.(1408-1410)tCc>tTc p.S470F BRD4_uc002nas.3_Missense_Mutation_p.S470F|BRD4_uc002nat.3_Missense_Mutation_p.S470F|BRD4_uc002nau.4_Missense_Mutation_p.S470F NM_058243 NP_490597 O60885 BRD4_HUMAN Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA. 470 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) CACTGCCGGGGAGGACACGGC 0.617000 T C15orf55 lethal midline carcinoma of young people 43 6 0 0 1 0 0 TCRAV5.1a 0 broad.mit.edu 37 14 22236791 22236791 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:22236791G>A uc001wbt.1 + 0 63 c.56G>A c.(55-57)cGa>cAa p.R19Q TRA_uc021rpa.1_Intron|TCRAV5.1a_uc021rpd.1_5'Flank Homo sapiens mRNA for T cell receptor alpha variable 6, partial cds, clone: un 84-2. TTGGGGAGACGAATGGAGTCA 0.478000 79 9 0 0 1 0 0 SPIRE2 84501 broad.mit.edu 37 16 89924777 89924777 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:89924777C>T uc002foz.1 + 7 1186 c.1134C>T c.(1132-1134)gcC>gcT p.A378A SPIRE2_uc010civ.1_Silent_p.A293A|SPIRE2_uc010ciw.1_Silent_p.A378A|SPIRE2_uc002fpa.1_Silent_p.A330A|SPIRE2_uc010cix.1_Silent_p.A245A NM_032451 NP_115827 Q8WWL2 SPIR2_HUMAN Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA. 378 transport cytoplasm|cytoskeleton actin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) TCCTCAACGCCTGCTCCGGAG 0.677000 113 17 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122003196 122003196 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:122003196G>A uc003eew.4 + 6 2863 c.2425G>A c.(2425-2427)Gag>Aag p.E809K CASR_uc003eev.4_Missense_Mutation_p.E799K NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 799 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GAAGCTGCCGGAGAACTTCAA 0.547000 38 4 0 0 1 0 0 SNX11 29916 broad.mit.edu 37 17 46190722 46190722 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:46190722C>T uc002inf.1 + 4 543 c.189C>T c.(187-189)ttC>ttT p.F63F SNX11_uc010wlg.1_Silent_p.F55F|SNX11_uc002ing.1_Silent_p.F63F|SNX11_uc010wlh.1_Silent_p.F55F|SNX11_uc010wli.1_Intron|SNX11_uc010wlj.1_5'UTR|SNX11_uc002inh.1_Silent_p.F63F NM_152244 NP_689450 Q9Y5W9 SNX11_HUMAN Homo sapiens sorting nexin 11 (SNX11), transcript variant 1, mRNA. 63 PX. cell communication|protein transport membrane phosphatidylinositol binding breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 14 ACCGTGAGTTCGTGTGGCTGA 0.478000 217 23 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9091517 9091517 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9091517T>C uc002mkp.3 - 0 502 c.298A>G c.(298-300)Aga>Gga p.R100G NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 100 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGCTGGTTCTTTGCTCGGAG 0.537000 84 6 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31438930 31438930 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:31438930G>A uc001bsi.1 - 12 2098 c.1985C>T c.(1984-1986)tCc>tTc p.S662F PUM1_uc001bsf.1_Missense_Mutation_p.S328F|PUM1_uc001bsh.1_Missense_Mutation_p.S662F|PUM1_uc001bsj.1_Missense_Mutation_p.S636F|PUM1_uc010oga.1_Missense_Mutation_p.S518F|PUM1_uc001bsk.1_Missense_Mutation_p.S698F|PUM1_uc010ogb.1_Missense_Mutation_p.S603F NM_014676 NP_055491 Q14671 PUM1_HUMAN Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA. 662 Ser-rich. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) AGAGCCCTGGGAGAAGAGGGA 0.582000 102 14 0 0 1 0 0 KIAA0895 23366 broad.mit.edu 37 7 36396945 36396945 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:36396945G>A uc003tfd.2 - 2 484 c.433C>T c.(433-435)Cgt>Tgt p.R145C KIAA0895_uc003tfc.2_Missense_Mutation_p.R132C|KIAA0895_uc011kax.1_Missense_Mutation_p.R94C|KIAA0895_uc003tfb.2_Missense_Mutation_p.R94C|KIAA0895_uc011kaw.2_5'UTR|KIAA0895_uc003tfe.3_Missense_Mutation_p.R132C|KIAA0895_uc011kay.2_Missense_Mutation_p.R94C NM_001100425 NP_001093895 Q8NCT3 K0895_HUMAN Homo sapiens KIAA0895 (KIAA0895), transcript variant 1, mRNA. 145 breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 TCTTTGCTACGAGAAGTGTTA 0.468000 35 7 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3611705 3611705 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:3611705G>A uc010btn.3 - 5 2424 c.2013C>T c.(2011-2013)atC>atT p.I671I NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA. 671 I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TGTGTTACCTGATCTTCTGAA 0.617000 78 8 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43057117 43057117 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:43057117G>A uc002xma.3 + 8 1361 c.1272G>A c.(1270-1272)agG>agA p.R424R HNF4A_uc002xlu.3_Intron|HNF4A_uc002xlv.3_Silent_p.R402R|HNF4A_uc010ggq.3_Silent_p.R417R|HNF4A_uc002xlz.3_Intron NM_000457 NP_000448 P41235 HNF4A_HUMAN Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA. 424 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CCCGACCCAGGGGACAGGCAG 0.547000 191 11 0 0 1 0 0 FLI1 2313 broad.mit.edu 37 11 128680798 128680798 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:128680798C>T uc010sbu.2 + 8 1617 c.1274C>T c.(1273-1275)tCc>tTc p.S425F FLI1_uc010sbt.2_Missense_Mutation_p.S232F|FLI1_uc010sbv.2_Missense_Mutation_p.S392F|FLI1_uc009zci.3_Missense_Mutation_p.S359F NM_002017 NP_001161153 Q01543 FLI1_HUMAN Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA. 425 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) TACTGGACCTCCCCCACGGGG 0.567000 T EWSR1 Ewing sarcoma 51 5 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70446316 70446316 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:70446316C>T uc001jok.4 + 10 5761 c.5256C>T c.(5254-5256)ccC>ccT p.P1752P NM_030625 NP_085128 Q8NFU7 TET1_HUMAN Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA. 1752 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 AGCCTGTTCCCCGTTCTGGAA 0.502000 67 6 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123970341 123970341 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:123970341C>T uc001lfv.3 + 8 6761 c.6401C>T c.(6400-6402)tCc>tTc p.S2134F TACC2_uc001lfw.3_Missense_Mutation_p.S280F|TACC2_uc009xzx.3_Missense_Mutation_p.S2089F|TACC2_uc010qtv.2_Missense_Mutation_p.S2138F|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Missense_Mutation_p.S212F|TACC2_uc001lga.3_Missense_Mutation_p.S212F|TACC2_uc009xzy.3_Missense_Mutation_p.S212F|TACC2_uc001lgb.3_Missense_Mutation_p.S169F|TACC2_uc010qtw.1_Missense_Mutation_p.S229F NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 2134 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AGGCCGCCTTCCTTAAAAAAG 0.557000 95 9 0 0 1 0 0 B3GNTL1 146712 broad.mit.edu 37 17 80963040 80963040 + Missense_Mutation SNP C T T rs142855993 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:80963040C>T uc002kgg.1 - 5 469 c.455G>A c.(454-456)cGa>cAa p.R152Q B3GNTL1_uc002kgf.1_Missense_Mutation_p.R41Q|B3GNTL1_uc002kge.1_Non-coding_Transcript NM_001009905 NP_001009905 Q67FW5 B3GNL_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA. 152 transferase activity, transferring glycosyl groups endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) ACGTGTGTATCGTTCGGTGGA 0.572000 145 17 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102476784 102476784 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:102476784C>T uc001yks.2 + 30 6557 c.6393C>T c.(6391-6393)ctC>ctT p.L2131L NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 2131 G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CTGAAAATCTCCCTGAACAAG 0.388000 13 3 0 0 1 0 0 SGOL1 151648 broad.mit.edu 37 3 20225193 20225193 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:20225193G>A uc003cbu.3 - 2 401 c.246C>T c.(244-246)atC>atT p.I82I SGOL1_uc003cbw.3_Silent_p.I82I|SGOL1_uc003cbv.3_Silent_p.I82I|SGOL1_uc003cbt.3_Silent_p.I82I|SGOL1_uc010hfa.3_Silent_p.I82I|SGOL1_uc003cbs.3_Silent_p.I82I|SGOL1_uc003cbr.3_Silent_p.I82I|SGOL1_uc003ccc.3_Silent_p.I82I|SGOL1_uc021wtx.1_Intron|SGOL1_uc021wty.1_Intron|SGOL1_uc003ccb.3_Silent_p.I82I|SGOL1_uc003cca.3_Silent_p.I82I|SGOL1_uc003cby.3_Silent_p.I82I|SGOL1_uc003cbx.3_Silent_p.I82I|SGOL1_uc003cbz.3_Silent_p.I82I NM_001012410 NP_001186181 Q5FBB7 SGOL1_HUMAN Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA. 82 Necessary for interaction with PPP2CA and PPP2R1A. attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 TCAGCTGTAGGATGATATCTT 0.343000 54 10 0 0 1 0 0 PXT1 222659 broad.mit.edu 37 6 36359601 36359601 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:36359601G>A uc003omd.2 - 4 835 c.351C>T c.(349-351)ttC>ttT p.F117F NM_152990 NP_694535 Q8NFP0 PXT1_HUMAN Homo sapiens peroxisomal, testis specific 1 (PXT1), mRNA. 34 peroxisome CTCTTCTAAAGAAAAAGAAGA 0.343000 84 9 0 0 1 0 0 NFKBIL1 4795 broad.mit.edu 37 6 31525483 31525483 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31525483C>T uc003nub.3 + 2 532 c.413C>T c.(412-414)cCt>cTt p.P138L NFKBIL1_uc011dnr.2_Missense_Mutation_p.P115L|NFKBIL1_uc011dns.2_Missense_Mutation_p.P115L|NFKBIL1_uc011dnt.1_Non-coding_Transcript|NFKBIL1_uc003nuc.3_Missense_Mutation_p.P138L NM_005007 NP_001138434 Q9UBC1 IKBL1_HUMAN Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 (NFKBIL1), transcript variant 1, mRNA. 138 cytoplasmic sequestering of transcription factor protein binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 GGGGAGACCCCTGGCCAAATT 0.577000 39 5 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76465412 76465412 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:76465412G>A uc003yaq.3 + 5 754 c.484G>A c.(484-486)Gaa>Aaa p.E162K HNF4G_uc003yar.3_Missense_Mutation_p.E199K NM_004133 NP_004124 Q14541 HNF4G_HUMAN Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA. 162 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) TGCCTTCTGTGAATTACCATT 0.323000 7 3 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167293760 167293760 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:167293760C>T uc003fev.1 - 3 736 c.432G>A c.(430-432)gtG>gtA p.V144V WDR49_uc003feu.1_5'Flank|WDR49_uc011bpd.1_Silent_p.V197V|WDR49_uc003few.1_Silent_p.V485V NM_178824 NP_849146 Q8IV35 WDR49_HUMAN Homo sapiens WD repeat domain 49 (WDR49), mRNA. 144 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 CATGGCTTTTCACCCTCTTGC 0.403000 41 8 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21036459 21036459 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:21036459C>T uc010sil.2 + 10 1670 c.1605C>T c.(1603-1605)ttC>ttT p.F535F SLCO1B3_uc001rek.3_Silent_p.F535F|SLCO1B3_uc001rel.3_Silent_p.F535F|SLCO1B3_uc010sim.2_Intron Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 535 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) GGAAATTTTTCATCTATGTTG 0.368000 28 4 0 0 1 0 0 OR4L1 122742 broad.mit.edu 37 14 20528811 20528811 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:20528811G>A uc001vwn.1 + 0 608 c.608G>A c.(607-609)aGc>aAc p.S203N NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA. 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) ATTGCTGACAGCGGGCTGCTC 0.433000 18 3 0 0 1 0 0 CDK5RAP3 80279 broad.mit.edu 37 17 46054169 46054169 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:46054169T>C uc010wlc.2 + 8 1074 c.950T>C c.(949-951)tTc>tCc p.F317S CDK5RAP3_uc002imq.1_Missense_Mutation_p.F72S|CDK5RAP3_uc002imr.3_Missense_Mutation_p.F297S|CDK5RAP3_uc002ims.3_Missense_Mutation_p.F210S NM_176096 NP_788276 Q96JB5 CK5P3_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 3 (CDK5RAP3), mRNA. 297 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 TGGGGCATCTTCCCGGAATCA 0.517000 37 5 0 0 1 0 0 MSMO1 6307 broad.mit.edu 37 4 166254685 166254685 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:166254685C>T uc003ire.3 + 1 293 c.163C>T c.(163-165)Ctt>Ttt p.L55F MSMO1_uc010irb.3_Missense_Mutation_p.L55F|MSMO1_uc003irf.3_Intron NM_006745 NP_006736 Q15800 ERG25_HUMAN Homo sapiens methylsterol monooxygenase 1 (MSMO1), transcript variant 1, mRNA. 55 cholesterol biosynthetic process|fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane C-4 methylsterol oxidase activity|iron ion binding NADH(DB00157) ATGGGGATCCCTTATAGTTCA 0.299000 26 3 0 0 1 0 0 SLC6A13 6540 broad.mit.edu 37 12 351820 351820 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:351820G>A uc001qic.2 - 3 528 c.438C>T c.(436-438)atC>atT p.I146I SLC6A13_uc009zdj.2_Silent_p.I146I|SLC6A13_uc010sdl.2_Intron|SLC6A13_uc010sdm.1_Silent_p.I27I NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA. 146 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) AGGGCAGGTCGATGGTGAAGC 0.552000 30 4 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31017746 31017746 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:31017746C>T uc021wbw.1 + 7 1040 c.608C>T c.(607-609)tCc>tTc p.S203F ASXL1_uc002wxs.3_Missense_Mutation_p.S202F|ASXL1_uc010geb.3_Intron NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA. 203 Poly-Ser. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 GGCAGCCCGTCCAGCAGCAGC 0.667000 """F, N, Mis""" """MDS, CMML""" 43 15 0 0 1 0 0 OR10H2 26538 broad.mit.edu 37 19 15839649 15839649 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:15839649C>T uc002nbm.2 + 0 816 c.796C>T c.(796-798)Ccc>Tcc p.P266S NM_013939 NP_039227 O60403 O10H2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA. 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) GCCCAAAGGTCCCCACTCTCA 0.547000 63 18 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13923529 13923529 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:13923529C>T uc003jfd.2 - 3 340 c.298G>A c.(298-300)Ggg>Agg p.G100R DNAH5_uc003jfe.1_Non-coding_Transcript NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 100 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGATTTACCCCTCCTAGAGAG 0.408000 Kartagener syndrome 15 8 0 0 1 0 0 GPR85 54329 broad.mit.edu 37 7 112724660 112724660 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:112724660G>A uc010ljv.2 - 1 634 c.117C>T c.(115-117)ctC>ctT p.L39L GPR85_uc003vgp.1_Silent_p.L39L|GPR85_uc003vgq.2_Silent_p.L39L|GPR85_uc010ljw.1_Silent_p.L39L|GPR85_uc022akd.1_Silent_p.L39L NM_001146266 NP_061843 P60893 GPR85_HUMAN Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA. 39 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 17 TGGAGATCAGGAGGTTGCCCA 0.433000 56 4 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36898645 36898645 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:36898645C>T uc003cgj.3 - 11 2684 c.2436G>A c.(2434-2436)aaG>aaA p.K812K NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 812 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TGATTTTCTTCTTGATGACCT 0.512000 109 12 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38924499 38924499 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:38924499C>T uc002oit.3 + 0 160 c.30C>T c.(28-30)gtC>gtT p.V10V RYR1_uc002oiu.3_Silent_p.V10V NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 10 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AAGACGAGGTCCAGTTCCTGC 0.647000 146 6 0 0 1 0 0 CREB5 9586 broad.mit.edu 37 7 28527820 28527820 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:28527820G>A uc003szq.3 + 1 421 c.31G>A c.(31-33)Gag>Aag p.E11K CREB5_uc003szo.3_Intron|CREB5_uc003szr.3_Missense_Mutation_p.E4K NM_182898 NP_878902 Q02930 CREB5_HUMAN Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA. 11 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 GATGAATTTGGAGCAGGAGAG 0.512000 354 19 0 0 1 0 0 MARC1 64757 broad.mit.edu 37 1 220986660 220986660 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:220986660G>A uc001hmt.3 + 6 1213 c.965G>A c.(964-966)cGa>cAa p.R322Q MARC1_uc001hms.3_Missense_Mutation_p.R305Q NM_022746 NP_073583 Q5VT66 MOSC1_HUMAN Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA. 305 MOSC. molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding CCTTCAGAACGAAAGTTATAT 0.493000 171 8 0 0 1 0 0 PIGM 93183 broad.mit.edu 37 1 160000969 160000969 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:160000969G>A uc001fuv.1 - 0 815 c.561C>T c.(559-561)atC>atT p.I187I NM_145167 NP_660150 Q9H3S5 PIGM_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class M (PIGM), mRNA. 187 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTATGGGAAGGATGTAAGTCA 0.468000 105 13 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24922057 24922057 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:24922057G>A uc001ywo.3 + 0 1517 c.1043G>A c.(1042-1044)cGa>cAa p.R348Q NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 348 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis p.R348L(2) NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CTGTGGGATCGAGGTGAGCTT 0.567000 32 7 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133153425 133153425 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:133153425G>A uc003ytj.3 - 9 1641 c.1416C>T c.(1414-1416)ttC>ttT p.F472F KCNQ3_uc003yti.3_Silent_p.F352F|KCNQ3_uc010mdt.3_Silent_p.F472F NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 472 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) AGGCCGTGCGGAAACGCTCTT 0.453000 105 12 0 0 1 0 0 PTMA 5757 broad.mit.edu 37 2 232577545 232577546 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:232577545_232577546CC>TT uc002vsc.4 + 4 502_503 c.320_321CC>TT c.(319-321)acc>aTT p.T107I PTMA_uc002vsb.4_Missense_Mutation_p.T106I|PTMA_uc010zmf.2_Non-coding_Transcript|PTMA_uc021vyc.1_5'Flank NM_001099285 NP_001092755 P06454 PTMA_HUMAN Homo sapiens prothymosin, alpha (PTMA), transcript variant 1, mRNA. 107 transcription, DNA-dependent nucleus lung(3)|ovary(1)|prostate(1)|skin(1) 6 Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142) Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) AAGCAGAAGACCGACGAGGATG 0.495000 6 3 0 0 1 0 0 KCNG1 3755 broad.mit.edu 37 20 49626408 49626408 + Silent SNP G A A rs147442458 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:49626408G>A uc002xwa.4 - 1 763 c.468C>T c.(466-468)atC>atT p.I156I KCNG1_uc002xwb.3_Silent_p.I156I NM_002237 NP_002228 Q9UIX4 KCNG1_HUMAN Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA. 156 voltage-gated potassium channel complex voltage-gated potassium channel activity p.I156I(2) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GGTCCTCCGCGATGCCCCAGT 0.662000 81 5 0 0 1 0 0 DNAAF1 123872 broad.mit.edu 37 16 84189347 84189347 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:84189347C>T uc002fhl.4 + 4 915 c.734C>T c.(733-735)cCc>cTc p.P245L DNAAF1_uc010chi.1_Non-coding_Transcript NM_178452 NP_848547 Q8NEP3 DAAF1_HUMAN Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA. 245 axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding p.M244K(1)|p.P245T(1) NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 GAAAGCATGCCCGATTTGGTA 0.413000 46 10 0 0 1 0 0 FGR 2268 broad.mit.edu 37 1 27943796 27943796 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:27943796C>T uc001boj.3 - 3 586 c.440G>A c.(439-441)gGa>gAa p.G147E FGR_uc001boi.3_5'Flank|FGR_uc001bok.3_Missense_Mutation_p.G147E|FGR_uc001bol.3_Missense_Mutation_p.G147E|FGR_uc001bom.3_Missense_Mutation_p.G147E NM_005248 NP_005239 P09769 FGR_HUMAN Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA. 147 SH2. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CCCAATCTTTCCAAAGTACCA 0.557000 60 4 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43430675 43430675 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:43430675C>T uc002ovl.4 - 4 1002 c.900G>A c.(898-900)acG>acA p.T300T PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Silent_p.T179T NM_002783 NP_002774 Q13046 PSG7_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA. 301 Ig-like C2-type 2. female pregnancy extracellular region Prostate(69;0.00682) TTTCATTTCTCGTGACACTGG 0.502000 170 23 0 0 1 0 0 GLS2 27165 broad.mit.edu 37 12 56868870 56868870 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:56868870C>T uc001slj.3 - 9 1233 c.954G>A c.(952-954)ggG>ggA p.G318G GLS2_uc021qzb.1_Silent_p.G281G|GLS2_uc021qzc.1_Intron|GLS2_uc021qzd.1_Silent_p.G53G|GLS2_uc009zos.3_Non-coding_Transcript|GLS2_uc001slk.3_Silent_p.G53G|GLS2_uc009zot.3_Intron NM_013267 NP_037399 Q9UI32 GLSL_HUMAN Homo sapiens glutaminase 2 (liver, mitochondrial) (GLS2), nuclear gene encoding mitochondrial protein, mRNA. 318 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AATTCCGATCCCCTGTTTCCT 0.478000 158 10 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145005749 145005749 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:145005749G>A uc003zaf.1 - 18 2838 c.2668C>T c.(2668-2670)Cgc>Tgc p.R890C PLEC_uc003zab.1_Missense_Mutation_p.R753C|PLEC_uc003zac.1_Missense_Mutation_p.R757C|PLEC_uc003zad.2_Missense_Mutation_p.R753C|PLEC_uc003zae.1_Missense_Mutation_p.R721C|PLEC_uc003zag.1_Missense_Mutation_p.R731C|PLEC_uc003zah.2_Missense_Mutation_p.R739C|PLEC_uc003zaj.2_Missense_Mutation_p.R780C NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 890 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GTGGCGGAGCGATCACAACTG 0.662000 12 4 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55146142 55146142 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55146142C>T uc002qgj.3 + 10 1751 c.1411C>T c.(1411-1413)Cta>Tta p.L471L LILRB1_uc010erp.1_Silent_p.L86L|LILRB1_uc002qgl.3_Silent_p.L471L|LILRB1_uc002qgk.3_Silent_p.L472L|LILRB1_uc002qgm.3_Silent_p.L472L|LILRB1_uc010erq.3_Silent_p.L455L|LILRB1_uc010err.3_Non-coding_Transcript NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA. 471 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GGCCGTCAtcctactgctcct 0.582000 HNSCC(37;0.09) 31 5 0 0 1 0 0 TMEM130 222865 broad.mit.edu 37 7 98445812 98445812 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:98445812C>T uc003upo.3 - 7 1364 c.1175G>A c.(1174-1176)gGg>gAg p.G392E TMEM130_uc011kiq.2_Missense_Mutation_p.G361E|TMEM130_uc011kir.2_Missense_Mutation_p.G380E|TMEM130_uc003upn.3_Missense_Mutation_p.G278E NM_001134450 NP_001127922 Q8N3G9 TM130_HUMAN Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA. 392 Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GCACCTGACCCCAGAGGGTGG 0.562000 34 5 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69040512 69040512 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:69040512C>T uc010fdg.3 + 5 1187 c.768C>T c.(766-768)ttC>ttT p.F256F ARHGAP25_uc010yqk.2_Silent_p.F230F|ARHGAP25_uc010yql.2_Silent_p.F216F|ARHGAP25_uc002sev.3_Silent_p.F249F|ARHGAP25_uc002sew.3_Silent_p.F248F|ARHGAP25_uc002sex.3_Silent_p.F249F|ARHGAP25_uc010fdh.1_Non-coding_Transcript NM_001007231 NP_001007232 P42331 RHG25_HUMAN Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA. 255 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.T256T(1) breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 ACGAAGGGTTCCTGCTCTGTG 0.522000 50 7 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 163410 163410 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:163410C>T uc003jak.2 + 10 2205 c.2155C>T c.(2155-2157)Ccc>Tcc p.P719S NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA. 719 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CAGGAAACATCCCCAGAAGAA 0.607000 69 5 0 0 1 0 0 C4orf26 152816 broad.mit.edu 37 4 76489500 76489500 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:76489500C>T uc011cbo.2 + 2 323 c.288C>T c.(286-288)tcC>tcT p.S96S C4orf26_uc011cbn.2_Intron|C4orf26_uc003hip.2_Missense_Mutation_p.H82Y NM_001206981 NP_001193910 Q17RF5 CD026_HUMAN Homo sapiens chromosome 4 open reading frame 26 (C4orf26), transcript variant 1, mRNA. 0 extracellular region p.N96S(1) kidney(1)|large_intestine(4)|stomach(1) 6 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GCCCAGAATCCATTTTAGGTT 0.512000 97 8 0 0 1 0 0 SSBP1 6742 broad.mit.edu 37 7 141441975 141441975 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:141441975C>T uc003vwo.1 + 2 109 c.31C>T c.(31-33)Cgt>Tgt p.R11C SSBP1_uc011kri.1_Missense_Mutation_p.R11C|SSBP1_uc010lnp.1_Missense_Mutation_p.R11C NM_003143 NP_003134 Q04837 SSBP_HUMAN Homo sapiens single-stranded DNA binding protein 1 (SSBP1), nuclear gene encoding mitochondrial protein, mRNA. 11 DNA replication|positive regulation of helicase activity mitochondrial nucleoid single-stranded DNA binding large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1) 7 Melanoma(164;0.0171) TTAGGTACTTCGTCAGTTTGT 0.318000 30 6 0 0 1 0 0 OR52I2 143502 broad.mit.edu 37 11 4608958 4608958 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:4608958C>T uc010qyh.2 + 0 938 c.916C>T c.(916-918)Ctg>Ttg p.L306L NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA. 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CACCCAAGTCCTGCTAGCTGA 0.517000 45 6 0 0 1 0 0 SV2A 9900 broad.mit.edu 37 1 149879342 149879342 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:149879342G>A uc001etg.3 - 9 2079 c.1588C>T c.(1588-1590)Ctg>Ttg p.L530L SV2A_uc009wlk.3_5'Flank|SV2A_uc001eth.2_Silent_p.L530L NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA. 530 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.L530P(1) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) TCTTCAAACAGGGAATCCTCA 0.498000 45 5 0 0 1 0 0 AMHR2 269 broad.mit.edu 37 12 53824999 53824999 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:53824999G>A uc001scx.2 + 10 1544 c.1464G>A c.(1462-1464)tgG>tgA p.W488* AMHR2_uc009zmy.2_3'UTR|AMHR2_uc021qyg.1_Nonsense_Mutation_p.W393* NM_020547 NP_065434 Q16671 AMHR2_HUMAN Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA. 488 Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding p.W488L(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) AAGACTGTTGGGATGCAGACC 0.597000 90 5 0 0 1 0 0 ST8SIA4 7903 broad.mit.edu 37 5 100147721 100147722 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:100147721_100147722GG>AA uc003knk.3 - 4 1237_1238 c.909_910CC>TT c.(907-912)ttccct>ttTTct p.P304S NM_005668 NP_005659 Q92187 SIA8D_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA. 304 N-glycan processing|axon guidance integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) AAATCCTTAGGGAAGGGCCAGA 0.381000 27 4 0 0 1 0 0 UVSSA 57654 broad.mit.edu 37 4 1377640 1377640 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:1377640G>A uc003gde.4 + 12 2395 c.1948G>A c.(1948-1950)Ggg>Agg p.G650R UVSSA_uc010ibv.3_Missense_Mutation_p.G201R NM_020894 NP_065945 Q2YD98 K1530_HUMAN Homo sapiens KIAA1530 (KIAA1530), mRNA. 650 GAAAGGCAGGGGGAAGAAGAG 0.572000 54 6 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156882656 156882656 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:156882656G>A uc001fqj.1 + 17 2420 c.2304G>A c.(2302-2304)gtG>gtA p.V768V PEAR1_uc001fqk.1_Silent_p.V393V NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA. 768 integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGTCCCTTGTGGTAGCCCTGG 0.587000 79 19 0 0 1 0 0 NASP 4678 broad.mit.edu 37 1 46073635 46073635 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:46073635C>T uc001coi.2 + 5 1211 c.1052C>T c.(1051-1053)gCt>gTt p.A351V NASP_uc010olq.2_Missense_Mutation_p.A314V|NASP_uc021omz.1_Missense_Mutation_p.A353V|NASP_uc001coj.2_Intron|NASP_uc010olr.2_Missense_Mutation_p.A287V|NASP_uc001cok.2_Missense_Mutation_p.A234V NM_002482 NP_002473 P49321 NASP_HUMAN Homo sapiens nuclear autoantigenic sperm protein (histone-binding) (NASP), transcript variant 2, mRNA. 351 Glu-rich (acidic). DNA replication|blastocyst development|cell cycle|cell proliferation|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 17 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) ACAACAGAGGCTGCAGAGGCC 0.532000 95 14 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72316208 72316208 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:72316208G>A uc010iic.3 + 9 1273 c.1156G>A c.(1156-1158)Gat>Aat p.D386N SLC4A4_uc003hfy.3_Missense_Mutation_p.D386N|SLC4A4_uc010iib.3_Missense_Mutation_p.D386N|SLC4A4_uc003hfz.3_Missense_Mutation_p.D386N|SLC4A4_uc003hgc.4_Missense_Mutation_p.D342N|SLC4A4_uc010iid.3_5'UTR|SLC4A4_uc003hga.2_Missense_Mutation_p.D264N|SLC4A4_uc003hgb.3_Missense_Mutation_p.D342N NM_001134742 NP_001128214 Q9Y6R1 S4A4_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA. 386 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity p.H386L(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TGGGGAATGGGATCCAGCAAT 0.433000 11 3 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50139938 50139938 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:50139938G>A uc002xwd.3 - 1 1062 c.842C>T c.(841-843)tCt>tTt p.S281F NFATC2_uc002xwc.3_Missense_Mutation_p.S281F|NFATC2_uc010zyv.2_Missense_Mutation_p.S62F|NFATC2_uc010zyw.2_Missense_Mutation_p.S62F|NFATC2_uc002xwe.3_Missense_Mutation_p.S261F|NFATC2_uc010zyx.2_Missense_Mutation_p.S261F|NFATC2_uc010zyy.2_Missense_Mutation_p.S62F|NFATC2_uc010zyz.2_Missense_Mutation_p.S62F NM_173091 NP_775114 Q13469 NFAC2_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA. 281 3 X approximate SP repeats. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TGCCACGTGAGATGAGGGCTG 0.716000 22 6 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30668355 30668355 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:30668355G>A uc003nrg.4 - 14 6597 c.6157C>T c.(6157-6159)Cta>Tta p.L2053L MDC1_uc003nrf.4_Silent_p.L684L NM_014641 NP_055456 Q14676 MDC1_HUMAN Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA. 2053 BRCT 2.|Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 CCAACCCGTAGTGGAATGGAG 0.542000 Other conserved DNA damage response genes 86 5 0 0 1 0 0 OGFOD1 55239 broad.mit.edu 37 16 56487266 56487266 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:56487266A>T uc002ejb.3 + 1 347 c.246A>T c.(244-246)gaA>gaT p.E82D OGFOD1_uc002ejc.3_5'UTR|NUDT21_uc002eja.3_5'Flank NM_018233 NP_060703 Q8N543 OGFD1_HUMAN Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 1 (OGFOD1), mRNA. 82 L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 Vitamin C(DB00126) TTCAGAAGGAACTGATGAACT 0.408000 55 4 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347351 71347351 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:71347351C>T uc011cat.2 + 3 1178 c.890C>T c.(889-891)tCc>tTc p.S297F MUC7_uc011cau.2_Missense_Mutation_p.S297F|MUC7_uc003hfj.3_Missense_Mutation_p.S297F NM_001145006 NP_689504 Q8TAX7 MUC7_HUMAN Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA. 297 Thr-rich. extracellular region protein binding p.S297Y(2) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) CCACCGTCTTCCCCAGCTCCA 0.557000 84 9 0 0 1 0 0 USP40 55230 broad.mit.edu 37 2 234431968 234431968 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:234431968G>A uc010zmr.2 - 14 2082 c.2082C>T c.(2080-2082)atC>atT p.I694I USP40_uc010zmt.1_Silent_p.I338I NM_018218 NP_060688 Q9NVE5 UBP40_HUMAN Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA. 682 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity p.A693T(1) breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) CACCTGCTGGGATTGCTAAGG 0.517000 94 20 0 0 1 0 0 TEX101 83639 broad.mit.edu 37 19 43922545 43922545 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:43922545C>T uc002owk.3 + 8 1361 c.800C>T c.(799-801)tCc>tTc p.S267F TEX101_uc010xwo.2_Missense_Mutation_p.S249F NM_031451 NP_001123483 Q9BY14 TX101_HUMAN Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA. 249 anchored to membrane|plasma membrane large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) ATTCACTTTTCCTAAGAAGGC 0.483000 59 15 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72829477 72829477 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:72829477G>A uc002fck.3 - 8 7777 c.7104C>T c.(7102-7104)tcC>tcT p.S2368S ZFHX3_uc002fcl.3_Silent_p.S1454S NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 2368 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TGGCATCCATGGAATCCTCAT 0.527000 111 13 0 0 1 0 0 MMRN2 79812 broad.mit.edu 37 10 88702255 88702255 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:88702255C>T uc001kea.3 - 5 2413 c.2286G>A c.(2284-2286)atG>atA p.M762I MMRN2_uc010qmn.2_Missense_Mutation_p.M405I|MMRN2_uc009xtb.2_Missense_Mutation_p.M719I NM_024756 NP_079032 Q9H8L6 MMRN2_HUMAN Homo sapiens multimerin 2 (MMRN2), mRNA. 762 extracellular space breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 CGTTGGCTTCCATGAGCCCTT 0.602000 105 9 0 0 1 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208773295 208773295 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:208773295G>A uc002vcl.2 - 5 2383 c.1893C>T c.(1891-1893)ttC>ttT p.F631F PLEKHM3_uc002vcm.2_Missense_Mutation_p.S646F NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA. 631 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATTCTCTGGGGAAAATTCTGA 0.438000 52 11 0 0 1 0 0 ACAD10 80724 broad.mit.edu 37 12 112171746 112171746 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:112171746C>T uc009zvx.3 + 11 1707 c.1507C>T c.(1507-1509)Cat>Tat p.H503Y ACAD10_uc001tsp.3_Missense_Mutation_p.H472Y|ACAD10_uc001tsq.3_Missense_Mutation_p.H472Y|ACAD10_uc001tss.1_Non-coding_Transcript NM_001136538 NP_001130010 Q6JQN1 ACD10_HUMAN Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA. 472 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 CCTGGTGTTTCATCCAGAAGA 0.537000 76 9 0 0 1 0 0 EGR4 1961 broad.mit.edu 37 2 73519625 73519625 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:73519625G>A uc010yrj.2 - 1 805 c.730C>T c.(730-732)Ccg>Tcg p.P244S EGR4_uc010yrk.1_Missense_Mutation_p.P243S NM_001965 NP_001956 B7ZKU3 B7ZKU3_HUMAN Homo sapiens early growth response 4 (EGR4), mRNA. 140 intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 AGGTCCGGCGGACCCGGCAGC 0.682000 18 9 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46564525 46564525 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:46564525G>A uc001ncv.2 - 7 1086 c.772C>T c.(772-774)Ccc>Tcc p.P258S AMBRA1_uc010rgt.1_5'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.P348S|AMBRA1_uc001ncu.1_Missense_Mutation_p.P258S|AMBRA1_uc010rgu.1_Missense_Mutation_p.P348S|AMBRA1_uc001ncw.2_Missense_Mutation_p.P258S|AMBRA1_uc001ncx.2_Missense_Mutation_p.P348S NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA. 348 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GGATGGAAGGGCTCGGTCTGT 0.612000 89 21 0 0 1 0 0 PPIL2 23759 broad.mit.edu 37 22 22024875 22024875 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:22024875C>T uc010gtj.1 + 2 219 c.103C>T c.(103-105)Cgt>Tgt p.R35C PPIL2_uc002zvh.4_Missense_Mutation_p.R35C|PPIL2_uc002zvi.4_Missense_Mutation_p.R35C|PPIL2_uc002zvg.4_Missense_Mutation_p.R35C|PPIL2_uc011aij.2_Missense_Mutation_p.R35C NM_148175 NP_680480 Q13356 PPIL2_HUMAN Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA. 35 blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity p.R35H(1) endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 17 Colorectal(54;0.105) AACAAATTTTCGTCGTTTACC 0.368000 114 6 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72404816 72404816 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:72404816G>A uc001osu.3 - 27 3918 c.3729C>T c.(3727-3729)ccC>ccT p.P1243P ARAP1_uc001osv.3_Silent_p.P1243P|ARAP1_uc001osr.3_Silent_p.P1003P|ARAP1_uc001oss.3_Silent_p.P998P|ARAP1_uc009yth.3_Silent_p.P937P|ARAP1_uc010rre.2_Silent_p.P998P NM_001040118 NP_056057 Q96P48 ARAP1_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA. 1243 Ras-associating. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction Golgi cisterna membrane|cytosol|plasma membrane ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 CGTGCAGGATGGGCAGCACCT 0.642000 49 9 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187541765 187541765 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:187541765G>A uc003izf.3 - 9 6163 c.5975C>T c.(5974-5976)tCc>tTc p.S1992F NM_005245 NP_005236 Q14517 FAT1_HUMAN Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA. 1992 Cadherin 18. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GGCCTCGGTGGAATTCTCTTT 0.408000 HNSCC(5;0.00058) 196 30 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56515251 56515251 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:56515251C>T uc002qmj.3 + 1 232 c.232C>T c.(232-234)Cag>Tag p.Q78* NLRP5_uc002qmi.3_Nonsense_Mutation_p.Q78* NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 78 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GGAAGAATTTCAGACATTCAA 0.438000 51 11 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21225977 21225977 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:21225977C>T uc002red.3 - 28 12445 c.12317G>A c.(12316-12318)aGa>aAa p.R4106K NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 4106 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.R4105fs*16(2) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTGCAGATTTCTTCTCAGCTT 0.498000 213 91 0 0 1 0 0 GABRR2 2570 broad.mit.edu 37 6 89978948 89978948 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:89978948G>A uc003pnb.2 - 3 377 c.369C>T c.(367-369)ttC>ttT p.F123F GABRR2_uc011dzx.1_5'UTR NM_002043 NP_002034 P28476 GBRR2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA. 123 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) GGGTCATAGTGAAGTCCTGTG 0.517000 73 7 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518274 108518274 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:108518274G>A uc001vql.3 - 0 1187 c.671C>T c.(670-672)tCg>tTg p.S224L NM_001080396 NP_001073865 B1AL88 F155A_HUMAN Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA. 224 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 ATTACAAAACGAAAGGTAAAA 0.577000 91 12 0 0 1 0 0 DEFB132 400830 broad.mit.edu 37 20 239757 239757 + Missense_Mutation SNP G A A rs145729689 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:239757G>A uc002wdb.3 + 1 141 c.98G>A c.(97-99)gGa>gAa p.G33E NM_207469 NP_997352 Q7Z7B7 DB132_HUMAN Homo sapiens defensin, beta 132 (DEFB132), mRNA. 33 defense response to bacterium extracellular region breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 4 AACACCCCAGGATACTGCAGG 0.522000 34 11 0 0 1 0 0 ACOX3 8310 broad.mit.edu 37 4 8401339 8401339 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:8401339G>A uc010idk.3 - 7 962 c.817C>T c.(817-819)Ctt>Ttt p.L273F ACOX3_uc003glc.4_Missense_Mutation_p.L273F|ACOX3_uc003gld.4_Missense_Mutation_p.L273F NM_003501 NP_003492 O15254 ACOX3_HUMAN Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA. 273 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity p.L273F(2) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 CGGTTCAGAAGGCTCTGGCGA 0.602000 49 4 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39228484 39228484 + Missense_Mutation SNP C T T rs145488377 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:39228484C>T uc003cjk.2 - 1 2682 c.2453G>A c.(2452-2454)cGa>cAa p.R818Q XIRP1_uc003cji.3_Missense_Mutation_p.R818Q|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.R818Q NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 818 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CTCCTCCTTTCGTATATAAGG 0.617000 70 14 0 0 1 0 0 TMEM117 84216 broad.mit.edu 37 12 44238470 44238470 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:44238470C>T uc001rod.3 + 1 82 c.16C>T c.(16-18)Cgt>Tgt p.R6C TMEM117_uc001roe.3_5'UTR|TMEM117_uc009zkc.3_Missense_Mutation_p.R6C NM_032256 NP_115632 Q9H0C3 TM117_HUMAN Homo sapiens transmembrane protein 117 (TMEM117), mRNA. 6 endoplasmic reticulum|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) TAAAGACTTTCGTTACTATTT 0.403000 66 12 0 0 1 0 0 ARSI 340075 broad.mit.edu 37 5 149677804 149677804 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:149677804G>A uc003lrv.2 - 1 1272 c.683C>T c.(682-684)cCc>cTc p.P228L NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN Homo sapiens arylsulfatase family, member I (ARSI), mRNA. 228 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding p.P228P(1)|p.R227H(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAGGAAGAGGGGACGCTGAGG 0.637000 26 7 0 0 1 0 0 HIF3A 64344 broad.mit.edu 37 19 46808539 46808539 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:46808539G>A uc002peh.3 + 2 286 c.255G>A c.(253-255)ctG>ctA p.L85L HIF3A_uc002pef.2_Silent_p.L85L|HIF3A_uc002peg.4_Silent_p.L85L|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Silent_p.L29L|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Intron|HIF3A_uc002pel.3_Silent_p.L83L|HIF3A_uc010xxz.2_Intron NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA. 85 PAS 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) GAGAACCACTGGATGCCTGCT 0.607000 115 8 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42333147 42333148 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:42333147_42333148CC>TT uc002igf.4 - 13 1842_1843 c.1693_1694GG>AA c.(1693-1695)ggc>AAc p.G565N SLC4A1_uc021tyc.1_Intron NM_000342 NP_000333 P02730 B3AT_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA. 565 Involved in anion transport.|Membrane (anion exchange). G -> A (in WU antigen). bicarbonate transport|cellular ion homeostasis Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) GGGCAGGGGGCCCTGAGGTTTG 0.525000 145 15 0 0 1 0 0 ECEL1 9427 broad.mit.edu 37 2 233345515 233345515 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:233345515C>T uc002vsv.2 - 15 2269 c.2064G>A c.(2062-2064)caG>caA p.Q688Q ECEL1_uc010fya.1_Silent_p.Q686Q|ECEL1_uc010fyb.1_Silent_p.Q395Q NM_004826 NP_004817 O95672 ECEL1_HUMAN Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA. 688 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) GCACCCACTTCTGATAGGCCT 0.622000 16 5 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115986989 115986989 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:115986989G>A uc001lbg.1 + 22 3487 c.3334G>A c.(3334-3336)Gct>Act p.A1112T TDRD1_uc001lbf.3_Missense_Mutation_p.A989T|TDRD1_uc001lbh.1_Missense_Mutation_p.A1099T|TDRD1_uc001lbi.1_Missense_Mutation_p.A1103T|TDRD1_uc010qsc.2_Intron|TDRD1_uc001lbj.3_Missense_Mutation_p.A821T NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN Homo sapiens tudor domain containing 1 (TDRD1), mRNA. 1112 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TGTCGATGTAGCTGATAAGCT 0.363000 46 4 0 0 1 0 0 KLHL11 55175 broad.mit.edu 37 17 40011334 40011334 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:40011334G>A uc002hyf.1 - 1 791 c.785C>T c.(784-786)tCt>tTt p.S262F NM_018143 NP_060613 Q9NVR0 KLH11_HUMAN Homo sapiens kelch-like 11 (Drosophila) (KLHL11), mRNA. 262 BACK. extracellular region NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 Breast(137;0.00156) AACCTCTTCAGAATCAACTGT 0.368000 43 8 0 0 1 0 0 CEP72 55722 broad.mit.edu 37 5 619195 619195 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:619195C>T uc003jbf.3 + 1 245 c.173C>T c.(172-174)tCt>tTt p.S58F CEP72_uc011clz.1_Non-coding_Transcript NM_018140 NP_060610 Q9P209 CEP72_HUMAN Homo sapiens centrosomal protein 72kDa (CEP72), mRNA. 58 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) GGTCTGAAATCTTTGGATCTC 0.408000 90 7 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109689690 109689690 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:109689690C>T uc004bcz.3 + 2 3786 c.3497C>T c.(3496-3498)tCc>tTc p.S1166F MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.S1014F|ZNF462_uc004bda.3_Missense_Mutation_p.S1014F NM_021224 NP_067047 Q96JM2 ZN462_HUMAN Homo sapiens zinc finger protein 462 (ZNF462), mRNA. 1166 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CCCCAAGGCTCCCCCCGGCCA 0.542000 85 17 0 0 1 0 0 C19orf10 56005 broad.mit.edu 37 19 4658084 4658084 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:4658084G>A uc002may.3 - 5 524 c.455C>T c.(454-456)cCc>cTc p.P152L NM_019107 NP_061980 Q969H8 CS010_HUMAN Homo sapiens chromosome 19 open reading frame 10 (C19orf10), mRNA. 152 ER-Golgi intermediate compartment|extracellular region haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015) GAATGCCCCGGGCCTGTGAGC 0.577000 19 5 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74005341 74005341 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:74005341C>T uc010wss.1 - 21 4239 c.4011G>A c.(4009-4011)aaG>aaA p.K1337K EVPL_uc002jqi.2_Silent_p.K1315K|EVPL_uc010wst.1_Silent_p.K785K NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1315 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GCACCACCTCCTTGCTCACCG 0.706000 222 17 0 0 1 0 0 ZNF660 285349 broad.mit.edu 37 3 44636230 44636230 + Missense_Mutation SNP G A A rs143217347 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:44636230G>A uc003cnl.1 + 2 878 c.545G>A c.(544-546)cGa>cAa p.R182Q ZNF660_uc021wwp.1_Missense_Mutation_p.R182Q NM_173658 NP_775929 Q6AZW8 ZN660_HUMAN Homo sapiens zinc finger protein 660 (ZNF660), mRNA. 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) CAACATCAGCGAATGCACAGA 0.408000 87 11 0 0 1 0 0 CCHCR1 54535 broad.mit.edu 37 6 31122338 31122338 + Silent SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31122338G>T uc003nsp.4 - 3 925 c.736C>A c.(736-738)Cgg>Agg p.R246R CCHCR1_uc011dne.2_Silent_p.R157R|CCHCR1_uc003nsq.4_Silent_p.R210R|CCHCR1_uc003nsr.4_Silent_p.R157R|CCHCR1_uc010jsk.1_Silent_p.R157R NM_001105564 NP_061925 Q8TD31 CCHCR_HUMAN Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA. 157 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding p.R157R(1)|p.R246R(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 AAGTTCTTCCGGACAACCTCA 0.612000 363 26 1.77063e-15 1.79702e-15 1 1 0 ZBTB24 9841 broad.mit.edu 37 6 109797389 109797389 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:109797389C>T uc003ptl.1 - 3 1361 c.1193G>A c.(1192-1194)cGa>cAa p.R398Q ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Missense_Mutation_p.R342Q|ZBTB24_uc010kdt.1_Non-coding_Transcript NM_014797 NP_055612 O43167 ZBT24_HUMAN Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA. 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) TGTATGAACTCGGTAATGGCT 0.368000 37 6 0 0 1 0 0 LUZP1 7798 broad.mit.edu 37 1 23418836 23418837 + Missense_Mutation DNP GG AC AC TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:23418836_23418837GG>AC uc001bgk.2 - 3 2468_2469 c.1918_1919CC>GT c.(1918-1920)ccg>GTg p.P640V LUZP1_uc010odv.1_Missense_Mutation_p.P640V|LUZP1_uc001bgl.3_Missense_Mutation_p.P640V|LUZP1_uc001bgm.1_Missense_Mutation_p.P640V NM_033631 NP_361013 Q86V48 LUZP1_HUMAN Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA. 640 nucleus p.P640P(2) NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) GGCTTCATGCGGACTGCTGTCT 0.460000 145 22 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57642775 57642775 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:57642775G>A uc002qny.3 + 3 3088 c.2732G>A c.(2731-2733)gGg>gAg p.G911E USP29_uc021vci.1_Missense_Mutation_p.G911E NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 911 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATCCCTCAGGGGGAATACGAA 0.468000 63 7 0 0 1 0 0 CELF3 11189 broad.mit.edu 37 1 151681498 151681498 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:151681498G>A uc001eys.2 - 4 1256 c.462C>T c.(460-462)acC>acT p.T154T CELF3_uc010pdh.2_5'Flank|CELF3_uc021oyt.1_Silent_p.T107T|CELF3_uc009wmy.3_Silent_p.T154T|CELF3_uc001eyr.3_Silent_p.T153T|CELF3_uc009wmx.2_Silent_p.T154T|CELF3_uc001eyt.2_Silent_p.T77T|CELF3_uc010pdi.1_Silent_p.T154T|RIIAD1_uc001eyu.2_5'Flank NM_007185 NP_009116 Q5SZQ8 CELF3_HUMAN Homo sapiens CUGBP, Elav-like family member 3 (CELF3), transcript variant 1, mRNA. 154 RRM 2. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 TGCTGTGAAGGGTGTTGATGG 0.677000 62 6 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105920818 105920818 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:105920818C>T uc001kxw.3 - 26 3633 c.3517G>A c.(3517-3519)Gaa>Aaa p.E1173K WDR96_uc009xxq.3_Missense_Mutation_p.E481K NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN Homo sapiens WD repeat domain 96 (WDR96), mRNA. 1173 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TCTCTTTCTTCATTTAACTCC 0.318000 14 4 0 0 1 0 0 OR10A2 341276 broad.mit.edu 37 11 6891438 6891438 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:6891438C>T uc001meu.1 + 0 453 c.453C>T c.(451-453)ttC>ttT p.F151F NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA. 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CATGGCTCTTCAGTTTTCCAT 0.527000 95 7 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179414138 179414138 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:179414138G>A uc001gmo.3 + 15 1984 c.1597G>A c.(1597-1599)Gat>Aat p.D533N AXDND1_uc001gmn.2_Missense_Mutation_p.D321N|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Missense_Mutation_p.D491N NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA. 533 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 GTTTACTGGGGATGTTCTACT 0.353000 42 6 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86415789 86415789 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:86415789C>T uc003uid.3 + 2 1780 c.681C>T c.(679-681)atC>atT p.I227I GRM3_uc010lef.3_Silent_p.I225I|GRM3_uc010leg.3_Silent_p.I99I|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 227 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AGACAGGGATCGAGGCCTTCG 0.597000 39 12 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101804381 101804382 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:101804381_101804382GG>AA uc004azb.1 + 23 2772_2773 c.2566_2567GG>AA c.(2566-2568)gga>AAa p.G856K NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 856 Triple-helical region 4 (COL4). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) AGGACTAAAAGGAGAACAGGTA 0.416000 57 4 0 0 1 0 0 SERPINA4 5267 broad.mit.edu 37 14 95034466 95034466 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:95034466G>A uc010avd.3 + 4 1309 c.1035_splice c.e4-1 p.R345_splice SERPINA4_uc001ydk.3_Splice_Site_p.R308_splice|SERPINA4_uc001ydl.3_Splice_Site_p.R308_splice NM_006215 NP_006206 P29622 KAIN_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA. 308 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) CCCCTTTCAGGAATTTTTACA 0.478000 109 17 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60042398 60042398 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:60042398G>A uc002izo.3 - 19 4890 c.4813C>T c.(4813-4815)Ccc>Tcc p.P1605S NM_005121 NP_005112 Q9UHV7 MED13_HUMAN Homo sapiens mediator complex subunit 13 (MED13), mRNA. 1605 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GGCTGAGTGGGAAGTGAAGAT 0.403000 21 5 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26781398 26781398 + Silent SNP C T T rs6734111 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:26781398C>T uc002rhk.3 - 0 169 c.42G>A c.(40-42)cgG>cgA p.R14R NM_194248 NP_919224 Q9HC10 OTOF_HUMAN Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA. 14 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGCCCCTGCCCCGCAGCTCCG 0.652000 68 4 0 0 1 0 0 SNED1 25992 broad.mit.edu 37 2 241992590 241992590 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:241992590G>A uc002wah.1 + 15 2104 c.2104G>A c.(2104-2106)Gag>Aag p.E702K NM_001080437 NP_001073906 Q8TER0 SNED1_HUMAN Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA. 702 Sushi. cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) CGGCCCCCCGGAGGAGGTGAA 0.716000 25 5 0 0 1 0 0 OR1D4 653166 broad.mit.edu 37 17 3144006 3144006 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:3144006C>T uc002fvf.3 + 0 37 c.37C>T c.(37-39)Ctt>Ttt p.L13F Homo sapiens olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) (OR1D4), non-coding RNA. CTCACAGTTCCTTCTCCTGGG 0.458000 33 4 0 0 1 0 0 OR9A2 135924 broad.mit.edu 37 7 142723664 142723664 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:142723664C>T uc003wcc.1 - 0 556 c.556G>A c.(556-558)Gat>Aat p.D186N NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA. 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) AGAGTGTTATCGCAGGACAGT 0.398000 49 14 0 0 1 0 0 OR7E24 26648 broad.mit.edu 37 19 9361987 9361987 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9361987G>A uc002mlb.1 + 0 268 c.268G>A c.(268-270)Ggt>Agt p.G90S NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA. 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 GGCTGACATCGGTTTCACCTC 0.532000 26 9 0 0 1 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161167980 161167980 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:161167980C>T uc001fyt.4 - 0 866 c.438G>A c.(436-438)ggG>ggA p.G146G ADAMTS4_uc001fyu.2_Silent_p.G146G|NDUFS2_uc001fyv.3_5'Flank NM_005099 NP_005090 O75173 ATS4_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA. 146 proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) ACAGGGCTCCCCCATCCCAGT 0.642000 63 15 0 0 1 0 0 MSMO1 6307 broad.mit.edu 37 4 166261450 166261450 + Silent SNP C T T rs73862307 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:166261450C>T uc003ire.3 + 4 739 c.609C>T c.(607-609)atC>atT p.I203I MSMO1_uc010irb.3_Silent_p.I203I|MSMO1_uc003irf.3_Silent_p.I72I NM_006745 NP_006736 Q15800 ERG25_HUMAN Homo sapiens methylsterol monooxygenase 1 (MSMO1), transcript variant 1, mRNA. 203 cholesterol biosynthetic process|fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane C-4 methylsterol oxidase activity|iron ion binding NADH(DB00157) TCATTGGAATCGTGCTTTTGT 0.368000 24 9 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50807923 50807923 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:50807923C>T uc003pag.3 + 5 1161 c.995C>T c.(994-996)cCc>cTc p.P332L NM_003221 NP_003212 Q92481 AP2B_HUMAN Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA. 332 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.P332H(2) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) ACGGAGTTTCCCGCCAAAGCC 0.483000 142 6 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107436862 107436862 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:107436862G>A uc004enw.4 - 16 1174 c.1071C>T c.(1069-1071)atC>atT p.I357I COL4A6_uc004env.4_Silent_p.I356I|COL4A6_uc011msn.2_Silent_p.I356I|COL4A6_uc010npk.3_Silent_p.I356I NM_001847 NP_001838 Q14031 CO4A6_HUMAN Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA. 357 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TTGCACCTGAGATCACAGCAC 0.368000 Alport syndrome with Diffuse Leiomyomatosis 34 4 0 0 1 0 0 CEACAM20 125931 broad.mit.edu 37 19 45015147 45015147 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:45015147G>A uc010ejn.1 - 11 1694 c.1678C>T c.(1678-1680)Ctg>Ttg p.L560L CEACAM20_uc010ejo.1_Silent_p.L548L|CEACAM20_uc010ejp.1_Silent_p.L467L|CEACAM20_uc010ejq.1_Silent_p.L455L NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA. 560 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) GGGGGCATCAGAGGTTTGGGT 0.507000 308 33 0 0 1 0 0 GSPT2 23708 broad.mit.edu 37 X 51488324 51488324 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:51488324C>T uc004dpl.3 + 0 1844 c.1602C>T c.(1600-1602)atC>atT p.I534I NM_018094 NP_060564 Q8IYD1 ERF3B_HUMAN Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA. 534 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) ACAAATCCATCATCTGCCCAG 0.403000 36 10 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5445203 5445203 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:5445203C>T uc002gci.3 - 5 3228 c.2673G>A c.(2671-2673)caG>caA p.Q891Q NLRP1_uc002gcg.1_Silent_p.Q891Q|NLRP1_uc002gch.4_Silent_p.Q891Q|NLRP1_uc002gck.3_Silent_p.Q891Q|NLRP1_uc002gcj.3_Silent_p.Q891Q|NLRP1_uc002gcl.3_Silent_p.Q891Q|NLRP1_uc010clh.3_Silent_p.Q891Q NM_033004 NP_127497 Q9C000 NALP1_HUMAN Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA. 891 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide NALP1 inflammasome complex|cytoplasm|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding p.R890K(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) TGCAGCTCGGCTGTCTCAGTC 0.587000 38 9 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457308 110457308 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:110457308G>A uc003yne.3 + 37 5314 c.5210G>A c.(5209-5211)gGa>gAa p.G1737E NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 1737 IPT/TIG 9. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CAGTGCCAGGGAAACTGCACC 0.433000 HNSCC(38;0.096) 83 7 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169586417 169586417 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:169586417G>A uc001ggi.4 - 2 395 c.330C>T c.(328-330)ctC>ctT p.L110L SELP_uc001ggh.3_5'UTR|SELP_uc009wvr.3_Silent_p.L110L NM_003005 NP_002996 P16109 LYAM3_HUMAN Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA. 110 C-type lectin. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CCTCGTTGGTGAGAGCCTTTT 0.478000 70 21 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34698082 34698082 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:34698082G>A uc003teh.1 + 0 186 c.58G>A c.(58-60)Gat>Aat p.D20N NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.D20N|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.D20N|NPSR1_uc003tei.1_Missense_Mutation_p.D20N|NPSR1_uc010kww.1_Missense_Mutation_p.D20N|NPSR1_uc011kar.1_Missense_Mutation_p.D20N NM_207173 NP_997056 Q6W5P4 NPSR1_HUMAN Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA. 20 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) GCAGACGCTGGATTCTTCCCC 0.532000 50 7 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47044494 47044494 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:47044494C>T uc003cqp.3 + 33 5686 c.5507C>T c.(5506-5508)tCa>tTa p.S1836L NBEAL2_uc010hjm.2_Missense_Mutation_p.S1213L|NBEAL2_uc010hjn.2_Missense_Mutation_p.S232L NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA. 1836 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GAGACATATTCACGCATGCGT 0.597000 22 4 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18975448 18975448 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:18975448G>A uc003sui.3 + 21 2861 c.2820G>A c.(2818-2820)acG>acA p.T940T HDAC9_uc003sue.3_Silent_p.T937T|HDAC9_uc003suh.3_Silent_p.T937T|HDAC9_uc003suj.3_Silent_p.T896T|HDAC9_uc003suk.3_Silent_p.T185T NM_178425 NP_848512 Q9UKV0 HDAC9_HUMAN Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA. 937 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity p.T940M(1) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GTCATTTGACGAAGCAATTGA 0.388000 141 6 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92445249 92445249 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:92445249G>A uc001dol.4 + 8 1640 c.1222G>A c.(1222-1224)Gaa>Aaa p.E408K BRDT_uc010osz.2_Missense_Mutation_p.E412K|BRDT_uc001dok.4_Missense_Mutation_p.E408K|BRDT_uc009wdf.3_Missense_Mutation_p.E335K|BRDT_uc010otb.2_Missense_Mutation_p.E362K|BRDT_uc010ota.2_Missense_Mutation_p.E362K|BRDT_uc001dom.4_Missense_Mutation_p.E408K NM_001242805 NP_001229734 Q58F21 BRDT_HUMAN Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA. 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) AGCCTCCTCTGAAGGGAACTC 0.393000 79 7 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15829336 15829336 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:15829336C>T uc002ddx.3 - 26 3521 c.3414G>A c.(3412-3414)cgG>cgA p.R1138R MYH11_uc002ddv.3_Silent_p.R1138R|MYH11_uc002ddw.3_Silent_p.R1131R|MYH11_uc002ddy.3_Silent_p.R1131R|MYH11_uc010bvg.3_Silent_p.R963R NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 1131 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TCCTGGCGGCCCGCTCTGAGT 0.587000 T CBFB AML 126 15 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54080363 54080363 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:54080363G>A uc002qbx.1 + 6 1983 c.549G>A c.(547-549)ggG>ggA p.G183G ZNF331_uc002qby.1_Silent_p.G183G|ZNF331_uc002qbz.1_Silent_p.G183G|ZNF331_uc010eqr.1_Silent_p.G183G|ZNF331_uc002qca.1_Silent_p.G183G|ZNF331_uc021uzg.1_Silent_p.G183G|ZNF331_uc021uzh.1_Silent_p.G183G|ZNF331_uc002qcb.1_Silent_p.G183G|ZNF331_uc002qcc.1_Silent_p.G183G|ZNF331_uc002qcd.1_Silent_p.G183G NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA. 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G183W(1) NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) TTCATACTGGGGAGAAGCCCT 0.413000 T ? follicular thyroid adenoma 95 9 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175066614 175066614 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:175066614C>T uc001gkl.1 + 7 1763 c.1650C>T c.(1648-1650)tcC>tcT p.S550S TNN_uc010pmx.1_Intron NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 550 Fibronectin type-III 4. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCACCATCTCCTGGGACCCGG 0.532000 41 5 0 0 1 0 0 ZNF248 57209 broad.mit.edu 37 10 38121200 38121200 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:38121200G>A uc001izd.1 - 5 1582 c.1083C>T c.(1081-1083)ttC>ttT p.F361F ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Silent_p.F361F NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN Homo sapiens zinc finger protein 248 (ZNF248), mRNA. 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 ACTTCTTGCTGAAATTACTCC 0.413000 12 9 0 0 1 0 0 DIO3 1735 broad.mit.edu 37 14 102028503 102028503 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:102028503G>A uc021sdx.1 + 0 816 c.670G>A c.(670-672)Gac>Aac p.D224N DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank NM_001362 NP_001353 P55073 IOD3_HUMAN Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA. 198 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) GAGCCTGGAGGACCGGGTCAG 0.647000 104 14 0 0 1 0 0 KLHDC2 23588 broad.mit.edu 37 14 50241377 50241377 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:50241377C>T uc001wwx.3 + 2 732 c.332C>T c.(331-333)tCa>tTa p.S111L NEMF_uc010anj.1_Intron NM_014315 NP_055130 Q9Y2U9 KLDC2_HUMAN Homo sapiens kelch domain containing 2 (KLHDC2), mRNA. 111 nucleus protein binding endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(31;0.000959)|Breast(41;0.0117) GGACACCATTCAAGAGGCAAT 0.393000 108 20 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32453481 32453481 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:32453481G>A uc003xiv.2 + 1 753 c.236G>A c.(235-237)cGa>cAa p.R79Q NRG1_uc022ats.1_Missense_Mutation_p.R58Q|NRG1_uc003xip.3_Missense_Mutation_p.R294Q|NRG1_uc003xir.3_Missense_Mutation_p.R79Q|NRG1_uc010lvl.3_Missense_Mutation_p.R79Q|NRG1_uc010lvm.3_Missense_Mutation_p.R79Q|NRG1_uc010lvn.3_Missense_Mutation_p.R79Q|NRG1_uc003xis.3_Missense_Mutation_p.R79Q|NRG1_uc011lbf.1_Missense_Mutation_p.R79Q|NRG1_uc010lvo.2_Missense_Mutation_p.R79Q|NRG1_uc003xiu.2_Missense_Mutation_p.R79Q|NRG1_uc003xiw.2_Missense_Mutation_p.R79Q|NRG1_uc003xit.2_Missense_Mutation_p.R79Q|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Missense_Mutation_p.R45Q|NRG1_uc010lvq.2_Missense_Mutation_p.R38Q NM_013964 NP_039258 Q02297 NRG1_HUMAN Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA. 79 Ig-like C2-type. Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GAATTGAATCGAAAAAACAAA 0.373000 15 4 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125516744 125516744 + Silent SNP G A A rs76525337 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:125516744G>A uc001lhk.1 - 11 2227 c.1902C>T c.(1900-1902)atC>atT p.I634I CPXM2_uc001lhj.3_Non-coding_Transcript NM_198148 NP_937791 Q8N436 CPXM2_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA. 634 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CCATGAACACGATCAGAGATT 0.532000 52 6 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3658900 3658900 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:3658900G>A uc002cvp.2 - 1 693 c.66C>T c.(64-66)gcC>gcT p.A22A SLX4_uc002cvq.1_Silent_p.A22A NM_032444 NP_115820 Q8IY92 SLX4_HUMAN Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA. 22 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 TCCCAGGACAGGCAGACAGAT 0.468000 Direct reversal of damage 47 5 0 0 1 0 0 PLIN5 440503 broad.mit.edu 37 19 4525805 4525805 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:4525805G>A uc002mas.3 - 5 613 c.560C>T c.(559-561)tCg>tTg p.S187L NM_001013706 NP_001013728 Q00G26 PLIN5_HUMAN Homo sapiens perilipin 5 (PLIN5), mRNA. 187 lipid particle endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 ATCCTCCACCGAACCCACTTC 0.647000 27 6 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580206 140580206 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140580206G>A uc003liy.3 + 0 859 c.859G>A c.(859-861)Gat>Aat p.D287N NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN Homo sapiens protocadherin beta 11 (PCDHB11), mRNA. 287 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCCTCAGAAGATATTCGCAA 0.368000 94 11 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79236828 79236828 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:79236828G>A uc003hlb.2 + 15 2199 c.1759G>A c.(1759-1761)Ggg>Agg p.G587R FRAS1_uc003hkw.3_Missense_Mutation_p.G587R|FRAS1_uc003hky.1_Missense_Mutation_p.G291R|FRAS1_uc003hkz.3_Missense_Mutation_p.G291R|FRAS1_uc003hla.1_Missense_Mutation_p.G98R NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 587 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GCTGCATGATGGGAAATGCAT 0.502000 42 4 0 0 1 0 0 XKR5 389610 broad.mit.edu 37 8 6679555 6679555 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:6679555G>A uc022aqv.1 - 4 794 c.643C>T c.(643-645)Cac>Tac p.H215Y XKR5_uc003wqq.3_Missense_Mutation_p.H52Y NM_207411 NP_997294 Q6UX68 XKR5_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA. 215 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) ACCAGCCAGTGGGCACCTGCA 0.622000 11 3 0 0 1 0 0 CTC1 80169 broad.mit.edu 37 17 8139498 8139499 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:8139498_8139499CC>TT uc002gkq.4 - 5 1013_1014 c.954_955GG>AA c.(952-957)ctggaa>ctAAaa p.E319K CTC1_uc010cnv.3_Non-coding_Transcript NM_025099 NP_079375 Q2NKJ3 CTC1_HUMAN Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA. 319 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 AGCTCCAGTTCCAGCTCCTGCA 0.564000 40 7 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7668894 7668894 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:7668894G>A uc003gkb.4 + 7 1115 c.1115G>A c.(1114-1116)cGa>cAa p.R372Q SORCS2_uc011bwi.2_Missense_Mutation_p.R200Q NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA. 372 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 TCTTATCGTCGAAATGAATTT 0.493000 120 13 0 0 1 0 0 DSE 29940 broad.mit.edu 37 6 116757919 116757919 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:116757919G>A uc011ebg.2 + 5 2444 c.2345G>A c.(2344-2346)cGa>cAa p.R782Q DSE_uc003pws.3_Missense_Mutation_p.R763Q|DSE_uc003pwt.3_Missense_Mutation_p.R763Q|DSE_uc003pwu.3_Missense_Mutation_p.R430Q NM_013352 NP_037484 Q9UL01 DSE_HUMAN Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA. 763 dermatan sulfate biosynthetic process Golgi apparatus|endoplasmic reticulum|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) ATACTGTCCCGAGTCCGGAAC 0.473000 25 7 0 0 1 0 0 THAP6 152815 broad.mit.edu 37 4 76452307 76452307 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:76452307G>A uc003him.3 + 4 649 c.552G>A c.(550-552)agG>agA p.R184R THAP6_uc003hin.3_Silent_p.R142R|THAP6_uc011cbm.2_Intron|THAP6_uc010iiu.1_Intron|THAP6_uc003hio.1_Intron|THAP6_uc010iiv.3_Silent_p.R184R NM_144721 NP_653322 Q8TBB0 THAP6_HUMAN Homo sapiens THAP domain containing 6 (THAP6), mRNA. 184 microtubule cytoskeleton DNA binding|metal ion binding lung(5) 5 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AATCATTGAGGAAGACAATCA 0.398000 27 6 0 0 1 0 0 TNFRSF13B 23495 broad.mit.edu 37 17 16843645 16843645 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:16843645G>A uc002gqs.1 - 3 639 c.626C>T c.(625-627)tCc>tTc p.S209F TNFRSF13B_uc010vwt.1_Non-coding_Transcript|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.S163F NM_012452 NP_036584 O14836 TR13B_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA. 209 cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1) 16 CTCACCCTGGGAAGACTTGGC 0.642000 IgA Deficiency, Selective 91 6 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 203977874 203977874 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:203977874C>T uc002uzt.3 + 15 2585 c.2252C>T c.(2251-2253)tCc>tTc p.S751F NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA. 751 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TCATCAGCCTCCTGGGGAGGA 0.478000 542 32 0 0 1 0 0 ALOX5 240 broad.mit.edu 37 10 45877970 45877970 + Missense_Mutation SNP G A A rs143978950 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:45877970G>A uc001jce.3 + 1 289 c.190G>A c.(190-192)Gag>Aag p.E64K ALOX5_uc009xmt.3_Missense_Mutation_p.E64K|ALOX5_uc010qfg.2_Missense_Mutation_p.E64K|ALOX5_uc021ppr.1_Missense_Mutation_p.E64K NM_000698 NP_000689 P09917 LOX5_HUMAN Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA. 64 PLAT. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding p.G63A(1) breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) GGAACTGGGCGAGATCCAGCT 0.557000 64 7 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21225563 21225563 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:21225563G>A uc002red.3 - 28 12859 c.12731C>T c.(12730-12732)tCc>tTc p.S4244F NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 4244 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTGGAAATAGGAAAACAGTAT 0.378000 158 68 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160143392 160143392 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:160143392C>T uc001fve.4 + 12 2355 c.1876C>T c.(1876-1878)Cat>Tat p.H626Y ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Missense_Mutation_p.H129Y NM_144699 NP_653300 Q13733 AT1A4_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA. 626 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AACAGGAGATCATCCCATTAC 0.522000 93 9 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62049186 62049186 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:62049186G>A uc002jds.1 - 3 584 c.507C>T c.(505-507)acC>acT p.T169T NM_000334 NP_000325 P35499 SCN4A_HUMAN Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA. 169 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GGGACTCAAAGGTGTAGATCC 0.592000 28 7 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138576674 138576674 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:138576674C>T uc003qhu.3 + 9 1043 c.872C>T c.(871-873)tCg>tTg p.S291L NM_020340 NP_065073 Q5TH69 BIG3_HUMAN Homo sapiens KIAA1244 (KIAA1244), mRNA. 291 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) AGCCTGGAGTCGGACTCTGCG 0.582000 76 8 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658508 72658508 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:72658508G>A uc003txs.1 - 12 1404 c.476C>T c.(475-477)tCt>tTt p.S159F FKBP6_uc003twz.2_Intron Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA. gattgcgatagaatatgccac 0.458000 40 5 0 0 1 0 0 SLC6A18 348932 broad.mit.edu 37 5 1243729 1243729 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:1243729G>A uc003jby.2 + 8 1314 c.1191G>A c.(1189-1191)ccG>ccA p.P397P NM_182632 NP_872438 Q96N87 S6A18_HUMAN Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA. 397 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCCACATGCCGGGGGCTCCTG 0.657000 78 7 0 0 1 0 0 PRDM10 56980 broad.mit.edu 37 11 129782110 129782110 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:129782110G>A uc001qfm.3 - 18 3096 c.2864C>T c.(2863-2865)cCt>cTt p.P955L PRDM10_uc001qfj.3_Missense_Mutation_p.P869L|PRDM10_uc001qfk.3_Intron|PRDM10_uc001qfl.3_Missense_Mutation_p.P869L|PRDM10_uc010sbx.2_Missense_Mutation_p.P865L|PRDM10_uc001qfn.3_Missense_Mutation_p.P951L NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA. 955 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) TGACTGGTGAGGGGAAGTGGC 0.512000 83 4 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79308779 79308779 + Missense_Mutation SNP C G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:79308779C>G uc003hlb.2 + 28 4339 c.3899C>G c.(3898-3900)tCc>tGc p.S1300C FRAS1_uc003hkw.3_Missense_Mutation_p.S1300C NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 1299 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GACAGCACATCCGATGTTGCA 0.488000 28 7 0 0 1 0 0 ENPP7 339221 broad.mit.edu 37 17 77708953 77708953 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:77708953G>A uc002jxa.3 + 2 531 c.511G>A c.(511-513)Gag>Aag p.E171K NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA. 171 negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) AAATGAGACGGAGTGGAGAGC 0.592000 41 19 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2816884 2816884 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:2816884C>T uc002crk.3 + 10 6904 c.6355C>T c.(6355-6357)Cgt>Tgt p.R2119C SRRM2_uc002crj.1_Missense_Mutation_p.R2023C|SRRM2_uc002crl.1_Missense_Mutation_p.R2119C|SRRM2_uc010bsu.1_Missense_Mutation_p.R2023C NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 2119 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CTGCTTCAGTCGTCCTAGCAT 0.517000 156 11 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21609847 21609847 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:21609847C>T uc003svc.3 + 6 1386 c.1355C>T c.(1354-1356)cCa>cTa p.P452L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 452 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AAGCTGAGACCATGGGATTTC 0.328000 Kartagener syndrome 14 4 0 0 1 0 0 EEFSEC 60678 broad.mit.edu 37 3 127965823 127965823 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:127965823G>A uc003eki.3 + 1 499 c.461G>A c.(460-462)gGa>gAa p.G154E NM_021937 NP_068756 P57772 SELB_HUMAN Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA. 154 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 TTACCTGAAGGAAAGAGACAG 0.478000 145 13 0 0 1 0 0 PRSS55 203074 broad.mit.edu 37 8 10387202 10387202 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:10387202G>A uc003wta.3 + 1 380 c.340G>A c.(340-342)Gag>Aag p.E114K AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.E114K|PRSS55_uc003wtb.3_Non-coding_Transcript NM_198464 NP_940866 Q6UWB4 PRS55_HUMAN Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA. 114 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 ATATTCCGAGGAGCTGTTGTA 0.592000 187 23 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123970902 123970902 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:123970902C>T uc001lfv.3 + 8 7322 c.6962C>T c.(6961-6963)tCc>tTc p.S2321F TACC2_uc001lfw.3_Missense_Mutation_p.S467F|TACC2_uc009xzx.3_Missense_Mutation_p.S2276F|TACC2_uc010qtv.2_Missense_Mutation_p.S2325F|TACC2_uc001lfx.3_Missense_Mutation_p.S25F|TACC2_uc001lfy.3_Missense_Mutation_p.S25F|TACC2_uc001lfz.3_Missense_Mutation_p.S399F|TACC2_uc001lga.3_Missense_Mutation_p.S399F|TACC2_uc009xzy.3_Missense_Mutation_p.S399F|TACC2_uc001lgb.3_Missense_Mutation_p.S356F|TACC2_uc010qtw.1_Missense_Mutation_p.S416F NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 2321 SPAZ. microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CCTCCCAGATCCCCTGCTGAA 0.468000 166 32 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 42080489 42080489 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:42080489G>A uc002yyq.1 - 1 704 c.252C>T c.(250-252)ttC>ttT p.F84F DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 84 Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GAGGGAAGGGGAAAATTTGGA 0.498000 58 19 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55268064 55268064 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:55268064C>T uc003tqk.3 + 23 3150 c.2904C>T c.(2902-2904)ttC>ttT p.F968F EGFR_uc022adm.1_Silent_p.F968F|EGFR_uc010kzg.2_Silent_p.F923F|EGFR_uc022adn.1_Silent_p.F923F|EGFR_uc011kco.2_Silent_p.F915F NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 968 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.F968L(2) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TCATCGAATTCTCCAAAATGG 0.478000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 97 6 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19447914 19447914 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:19447914G>A uc001bbi.3 - 67 9914 c.9910C>T c.(9910-9912)Ctc>Ttc p.L3304F UBR4_uc001bbk.1_Missense_Mutation_p.L951F NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 3304 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ACTTGGAGGAGGAAGTACAGG 0.582000 38 7 0 0 1 0 0 TAP1 6890 broad.mit.edu 37 6 32818754 32818754 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:32818754G>A uc003ocg.3 - 3 1352 c.1197C>T c.(1195-1197)ttC>ttT p.F399F TAP1_uc011dqi.2_Silent_p.F138F NM_000593 NP_000584 Q03518 TAP1_HUMAN Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA. 399 ABC transmembrane type-1. antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity TAP complex|cytosol|plasma membrane ADP binding|ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1) 21 TGGGCAGAAGGAAAAGCAGAG 0.547000 69 8 0 0 1 0 0 VN1R5 317705 broad.mit.edu 37 1 247419691 247419691 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:247419691C>T uc010pyu.2 + 1 315 c.315C>T c.(313-315)ttC>ttT p.F105F NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA. 106 response to pheromone integral to membrane|plasma membrane pheromone receptor activity all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) CCTTAGACTTCTTTGGTTCAC 0.453000 84 5 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38729526 38729526 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:38729526G>A uc021yzh.1 + 10 1673 c.1564G>A c.(1564-1566)Gga>Aga p.G522R DNAH8_uc003ooe.2_Missense_Mutation_p.G305R NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TACTGATGGAGGATTAAACCA 0.289000 13 4 0 0 1 0 0 RABEPK 10244 broad.mit.edu 37 9 127990199 127990199 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:127990199C>T uc004bpi.3 + 6 706 c.537C>T c.(535-537)acC>acT p.T179T RABEPK_uc004bpj.3_Silent_p.T128T|RABEPK_uc004bpk.3_Silent_p.T179T NM_001174152 NP_005824 Q7Z6M1 RABEK_HUMAN Homo sapiens Rab9 effector protein with kelch motifs (RABEPK), transcript variant 2, mRNA. 179 receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 ACACTCTGACCTGGTCACAGC 0.488000 33 8 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247588011 247588011 + Silent SNP G A A rs143305855 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:247588011G>A uc001icr.3 + 4 1404 c.1266G>A c.(1264-1266)ctG>ctA p.L422L NLRP3_uc001ics.3_Silent_p.L422L|NLRP3_uc001icu.3_Silent_p.L422L|NLRP3_uc001icw.3_Silent_p.L422L|NLRP3_uc001icv.3_Silent_p.L422L|NLRP3_uc010pyw.2_Silent_p.L420L|NLRP3_uc001ict.1_Silent_p.L420L NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 422 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.L422L(2) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GCACTGGACTGAAACAGCAGA 0.582000 50 7 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8615533 8615533 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:8615533C>T uc002mkg.3 - 8 955 c.817G>A c.(817-819)Gtc>Atc p.V273I NM_012335 NP_036467 O00160 MYO1F_HUMAN Homo sapiens myosin IF (MYO1F), mRNA. 273 Myosin head-like. unconventional myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 AGCTGCAGGACCAGCTGCTGG 0.587000 76 5 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31901481 31901481 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31901481G>A uc011doo.2 + 1 253 c.32G>A c.(31-33)cGa>cAa p.R11Q CFB_uc003nyc.2_Missense_Mutation_p.R11Q|CFB_uc011dop.2_Silent_p.S56S|CFB_uc003nye.4_Silent_p.S179S|CFB_uc003nyf.3_Silent_p.S179S|CFB_uc010jtk.3_Silent_p.S47S|CFB_uc011doq.2_Silent_p.S150S|CFB_uc011dor.2_Silent_p.S117S P00751 CFAB_HUMAN Homo sapiens complement component 2 (C2), transcript variant 2, mRNA. 679 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 GCTGCTCCTCGAATCTTGTGC 0.652000 263 33 0 0 1 0 0 OR10H1 26539 broad.mit.edu 37 19 15918812 15918812 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:15918812G>A uc002nbq.2 - 0 125 c.36C>T c.(34-36)ttC>ttT p.F12F NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA. 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 CGACGAGGATGAATTGGGTCA 0.537000 85 9 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107331704 107331704 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:107331704C>T uc011lvo.2 + 0 256 c.256C>T c.(256-258)Ctg>Ttg p.L86L NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA. 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TGCCAGCTTTCTGGCAGTAAA 0.468000 102 14 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276501 186276501 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:186276501G>A uc001gru.4 + 6 1701 c.1650G>A c.(1648-1650)aaG>aaA p.K550K MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.K509K|PRG4_uc009wyl.3_Silent_p.K457K|PRG4_uc009wym.3_Silent_p.K416K|PRG4_uc010poo.2_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA. 550 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CCACTCCCAAGGAGCCTTCAC 0.642000 29 6 0 0 1 0 0 DHTKD1 55526 broad.mit.edu 37 10 12143138 12143138 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:12143138C>T uc001ild.4 + 9 1953 c.1854C>T c.(1852-1854)atC>atT p.I618I NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA. 618 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) ACACCTACATCCCCCTGAACC 0.463000 174 57 0 0 1 0 0 ENPP3 5169 broad.mit.edu 37 6 132004242 132004242 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:132004242G>A uc003qcu.4 + 12 1407 c.1060G>A c.(1060-1062)Gaa>Aaa p.E354K ENPP3_uc010kfo.1_Non-coding_Transcript|ENPP3_uc010kfp.1_Non-coding_Transcript|ENPP3_uc003qcv.3_Missense_Mutation_p.E354K|ENPP3_uc010kfq.3_Non-coding_Transcript NM_005021 NP_005012 O14638 ENPP3_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA. 354 Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) GATGTTGATGGAAGGCCTGAA 0.358000 32 4 0 0 1 0 0 CPA3 1359 broad.mit.edu 37 3 148614417 148614417 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:148614417C>T uc003ewm.3 + 10 1229 c.1177C>T c.(1177-1179)Cgg>Tgg p.R393W NM_001870 NP_001861 P15088 CBPA3_HUMAN Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA. 393 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TCCAGAATCCCGGATAAAGCC 0.433000 41 4 0 0 1 0 0 PLD2 5338 broad.mit.edu 37 17 4720326 4720326 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:4720326C>T uc002fzc.3 + 15 1803 c.1677C>T c.(1675-1677)ttC>ttT p.F559F PLD2_uc010vsj.2_Silent_p.F416F|PLD2_uc002fzd.3_Silent_p.F559F NM_002663 NP_002654 O14939 PLD2_HUMAN Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA. 559 Catalytic. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) CCCGGCACTTCATCCAGCGCT 0.632000 49 5 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823004 38823004 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:38823004G>A uc003avs.1 - 1 1231 c.1134C>T c.(1132-1134)gcC>gcT p.A378A KCNJ4_uc003avt.1_Silent_p.A378A|KCNJ4_uc021wpp.1_Silent_p.A378A NM_004981 NP_690607 P48050 IRK4_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA. 378 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex PDZ domain binding|inward rectifier potassium channel activity endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) GGCTCATAAGGGCCAGCTCGT 0.706000 107 6 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74972790 74972790 + Missense_Mutation SNP C T T rs145811412 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:74972790C>T uc001xqa.3 - 27 4525 c.4138G>A c.(4138-4140)Gat>Aat p.D1380N NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 1380 EGF-like 16; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TCCTGGGCATCGTACTCCTCC 0.622000 71 15 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520712 33520712 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:33520712C>T uc002hjd.2 - 0 701 c.615G>A c.(613-615)ctG>ctA p.L205L NM_152462 NP_689675 Q8N808 AMAC1_HUMAN Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA. 205 integral to membrane CCAGAAGCCTCAGGGACAGCG 0.627000 110 28 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76455200 76455200 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:76455200G>A uc010dhp.2 - 60 9869 c.9744C>T c.(9742-9744)atC>atT p.I3248I DNAH17_uc002jvs.3_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. p.E3248Q(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGAAGCGGACGATGTTGATGC 0.642000 337 30 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38051354 38051354 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:38051354C>T uc003gtb.3 + 10 2103 c.1745C>T c.(1744-1746)gCt>gTt p.A582V TBC1D1_uc011byd.2_Missense_Mutation_p.A582V|TBC1D1_uc010ifd.3_Missense_Mutation_p.A329V|TBC1D1_uc011byf.1_Missense_Mutation_p.A453V NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA. 582 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 GAAGAGCCAGCTCCGCTGTCG 0.622000 86 4 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164748 139164748 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:139164748G>A uc003yuy.3 - 12 2141 c.1970C>T c.(1969-1971)tCc>tTc p.S657F FAM135B_uc003yux.3_Missense_Mutation_p.S558F|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.S219F|FAM135B_uc003yvb.3_Missense_Mutation_p.S219F NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 657 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTCCTTTAGGGAAGACCTAAT 0.493000 HNSCC(54;0.14) 59 9 0 0 1 0 0 TACR1 6869 broad.mit.edu 37 2 75276562 75276562 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:75276562G>A uc002sng.2 - 4 1806 c.1221C>T c.(1219-1221)tcC>tcT p.S407S NM_001058 NP_001049 P25103 NK1R_HUMAN Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA. 407 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1) 24 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) CTGTGGCCTAGGAGAGCACAT 0.562000 67 5 0 0 1 0 0 SOBP 55084 broad.mit.edu 37 6 107955609 107955609 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:107955609C>T uc003prx.3 + 5 2065 c.1561C>T c.(1561-1563)Ccg>Tcg p.P521S NM_018013 NP_060483 A7XYQ1 SOBP_HUMAN Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA. 521 Pro-rich. metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) GGTGCCGCCCCCGACCCTGCT 0.667000 9 4 0 0 1 0 0 SLC36A2 153201 broad.mit.edu 37 5 150712866 150712866 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:150712866G>A uc003lty.3 - 6 892 c.762C>T c.(760-762)agC>agT p.S254S SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Silent_p.S56S|SLC36A2_uc010jhv.2_Silent_p.S254S NM_181776 NP_861441 Q495M3 S36A2_HUMAN Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA. 254 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGGCAACCGGCTGGGGTCTG 0.438000 32 9 0 0 1 0 0 GCNT1 2650 broad.mit.edu 37 9 79118281 79118281 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:79118281G>A uc022bif.1 + 0 984 c.984G>A c.(982-984)agG>agA p.R328R GCNT1_uc010mpf.3_Silent_p.R328R|GCNT1_uc010mpg.3_Silent_p.R328R|GCNT1_uc010mph.3_Silent_p.R328R|GCNT1_uc004akf.4_Silent_p.R328R|GCNT1_uc010mpi.3_Silent_p.R328R|GCNT1_uc004akh.4_Silent_p.R328R NM_001490 NP_001481 Q02742 GCNT1_HUMAN Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA. 328 Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1) 30 CCATCCAAAGGATTCCTGAAG 0.488000 26 5 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138584592 138584592 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:138584592C>T uc003qhu.3 + 11 2143 c.1972C>T c.(1972-1974)Ctg>Ttg p.L658L NM_020340 NP_065073 Q5TH69 BIG3_HUMAN Homo sapiens KIAA1244 (KIAA1244), mRNA. 658 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) AACTGCCGCCCTGTCTCTAAA 0.607000 63 6 0 0 1 0 0 SV2C 22987 broad.mit.edu 37 5 75580986 75580986 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:75580986G>A uc003kei.1 + 5 1048 c.914_splice c.e5-1 p.G305_splice NM_014979 NP_055794 Q496J9 SV2C_HUMAN Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA. 305 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TCCTTTTCCAGGGTGGAGCTT 0.577000 85 7 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57429085 57429085 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:57429085C>T uc002xzw.3 + 0 1050 c.765C>T c.(763-765)ttC>ttT p.F255F GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript NM_080425 NP_001070958 P63092 GNAS2_HUMAN Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA. 0 G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCAGCCAGTTCGCGGCAGTCG 0.662000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 10 5 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7752119 7752119 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:7752119C>T uc002gix.3 + 0 1256 c.419C>T c.(418-420)tCc>tTc p.S140F KDM6B_uc002giw.1_Missense_Mutation_p.S838F NM_001080424 NP_001073893 O15054 KDM6B_HUMAN Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA. 838 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 ACTCAGTATTCCCCTGGCCCC 0.647000 91 9 0 0 1 0 0 ANKRD22 118932 broad.mit.edu 37 10 90588416 90588416 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:90588416C>T uc001kfj.4 - 2 589 c.221G>A c.(220-222)aGa>aAa p.R74K NM_144590 NP_653191 Q5VYY1 ANR22_HUMAN Homo sapiens ankyrin repeat domain 22 (ANKRD22), mRNA. 74 NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 Colorectal(252;0.0163) Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05) CAAGCAGGTTCTCTCTTTCTA 0.299000 30 5 0 0 1 0 0 GNAI2 2771 broad.mit.edu 37 3 50295059 50295059 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:50295059C>T uc003cyq.1 + 7 1126 c.1005C>T c.(1003-1005)ttC>ttT p.F335F GNAI2_uc003cyo.1_Silent_p.F319F|GNAI2_uc003cyp.1_Silent_p.F319F|GNAI2_uc010hlg.1_Silent_p.F254F|GNAI2_uc011bdn.2_Silent_p.F298F|GNAI2_uc003cyr.1_Silent_p.F254F|BC033528_uc003cys.1_5'Flank NM_002070 NP_002061 P04899 GNAI2_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA. 335 adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651) ACGTGCAGTTCGTGTTTGACG 0.567000 46 4 0 0 1 0 0 LMBR1 64327 broad.mit.edu 37 7 156480761 156480761 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:156480761G>A uc010lqn.3 - 16 1688 c.1473C>T c.(1471-1473)ttC>ttT p.F491F LMBR1_uc003wmv.4_Intron|LMBR1_uc003wmw.4_Silent_p.F450F|LMBR1_uc003wmx.4_Silent_p.F298F|LMBR1_uc011kvx.2_Intron NM_022458 NP_071903 Q8WVP7 LMBR1_HUMAN Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA. 450 integral to membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 18 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.208) CTGCAGAGGTGAATTTTCGGA 0.358000 27 6 0 0 1 0 0 NPY1R 4886 broad.mit.edu 37 4 164247704 164247704 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:164247704C>T uc003iqm.2 - 1 468 c.3G>A c.(1-3)atG>atA p.M1I NPY1R_uc021xtv.1_Missense_Mutation_p.M1I|NPY1R_uc011cjj.2_Intron NM_000909 NP_000900 P25929 NPY1R_HUMAN Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA. 1 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ATGTTGAATTCATTTTGATTG 0.343000 19 5 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238277299 238277299 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:238277299G>A uc002vwl.2 - 9 5092 c.4807C>T c.(4807-4809)Ccc>Tcc p.P1603S COL6A3_uc002vwo.2_Missense_Mutation_p.P1397S|COL6A3_uc010znj.1_Missense_Mutation_p.P996S NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 1603 Nonhelical region.|VWFA 8. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TCTATGTTGGGAAGCTCTCTG 0.552000 122 21 0 0 1 0 0 TBC1D26 353149 broad.mit.edu 37 17 15641388 15641388 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:15641388G>A uc010cov.3 + 5 526 c.276G>A c.(274-276)aaG>aaA p.K92K TBC1D26_uc010cou.1_Silent_p.K92K|TBC1D26_uc002gpb.4_Non-coding_Transcript NM_178571 NP_848666 Q86UD7 TBC26_HUMAN Homo sapiens TBC1 domain family, member 26 (TBC1D26), mRNA. 92 intracellular Rab GTPase activator activity endometrium(1)|large_intestine(1)|lung(4)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078) GGAGCACCAAGAAGGTAACAT 0.532000 51 5 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14107154 14107154 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:14107154C>T uc001avi.3 + 7 3720 c.2864C>T c.(2863-2865)tCc>tTc p.S955F PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.S955F|PRDM2_uc021ogk.1_Missense_Mutation_p.S718F|PRDM2_uc001avk.3_Missense_Mutation_p.S754F|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA. 955 Pro-rich. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) CAGACACCCTCCCTTTCATCC 0.607000 192 13 0 0 1 0 0 KRI1 65095 broad.mit.edu 37 19 10668259 10668259 + Missense_Mutation SNP A C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:10668259A>C uc002moy.1 - 15 1613 c.1604T>G c.(1603-1605)gTg>gGg p.V535G KRI1_uc002mow.1_Missense_Mutation_p.V154G|KRI1_uc002mox.1_Missense_Mutation_p.V531G NM_023008 NP_075384 Q8N9T8 KRI1_HUMAN Homo sapiens KRI1 homolog (S. cerevisiae) (KRI1), mRNA. 535 NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) GTCACAGGGCACCACTGTGCG 0.617000 67 19 0 0 1 0 0 ALG1 56052 broad.mit.edu 37 16 5125427 5125427 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:5125427C>T uc002cym.3 + 3 470 c.429C>T c.(427-429)ttC>ttT p.F143F ALG1_uc002cyj.3_Silent_p.F32F|ALG1_uc010bue.3_Silent_p.F32F NM_019109 NP_061982 Q9BT22 ALG1_HUMAN Homo sapiens asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) (ALG1), mRNA. 143 dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(90;0.0164) TCTGCTGGTTCGTGGGCTGCC 0.542000 140 16 0 0 1 0 0 CARD14 79092 broad.mit.edu 37 17 78162232 78162232 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:78162232G>A uc002jxw.1 + 4 926 c.732G>A c.(730-732)ctG>ctA p.L244L CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Silent_p.L244L|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Silent_p.L7L|CARD14_uc010dhu.1_Silent_p.L42L NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA. 244 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CCTGTGAGCTGGAATTGCAAG 0.587000 27 13 0 0 1 0 0 SLC24A4 123041 broad.mit.edu 37 14 92949073 92949073 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:92949073C>T uc001yak.3 + 12 1328 c.1305C>T c.(1303-1305)ttC>ttT p.F435F SLC24A4_uc001yai.3_Silent_p.F371F|SLC24A4_uc010twm.2_Silent_p.F416F|SLC24A4_uc010auj.3_Silent_p.F307F|SLC24A4_uc010twn.2_Silent_p.F191F|SLC24A4_uc001yan.3_Silent_p.F129F NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA. 435 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CCCTCATCTTCCTCCTGTGCG 0.587000 111 6 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170145543 170145543 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:170145543G>A uc002ues.3 - 8 1248 c.1035C>T c.(1033-1035)acC>acT p.T345T LRP2_uc010zdf.1_Silent_p.T345T NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 345 EGF-like 1. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TACCAACACAGGTACGGCTGT 0.527000 36 7 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105407010 105407010 + Silent SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:105407010C>A uc010axc.1 - 6 14898 c.14778G>T c.(14776-14778)gtG>gtT p.V4926V AHNAK2_uc021sen.1_Silent_p.V323V|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.V4826V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 4926 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCAAGGAGGCCACAAGCTCTT 0.567000 48 10 0.0581538 0.0585076 1 1 0 ANO4 121601 broad.mit.edu 37 12 101368623 101368623 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:101368623G>A uc010svm.1 + 7 1130 c.558_splice c.e7-1 p.R186_splice ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Splice_Site_p.R151_splice|ANO4_uc001thx.2_Splice_Site_p.R186_splice NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 186 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 GTTCTTCCAGGAGAAAAATCT 0.468000 HNSCC(74;0.22) 46 4 0 0 1 0 0 CNNM4 26504 broad.mit.edu 37 2 97475081 97475082 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:97475081_97475082GG>AA uc002swx.3 + 6 2253_2254 c.2155_2156GG>AA c.(2155-2157)ggg>AAg p.G719K CNNM4_uc010yuy.2_Missense_Mutation_p.R235Q NM_020184 NP_064569 Q6P4Q7 CNNM4_HUMAN Homo sapiens cyclin M4 (CNNM4), mRNA. 719 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 GTACCAGAACGGGCTGCTGGCT 0.594000 40 5 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120168404 120168404 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:120168404G>A uc001txj.2 - 26 3438 c.3382C>T c.(3382-3384)Cgc>Tgc p.R1128C CIT_uc001txh.2_Missense_Mutation_p.R620C|CIT_uc001txi.2_Missense_Mutation_p.R1086C NM_001206999 NP_001193928 O14578 CTRO_HUMAN Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA. 1086 Interaction with Rho/Rac. intracellular signal transduction ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) ACCACCTGGCGAGACTCGGTG 0.597000 31 5 0 0 1 0 0 SP4 6671 broad.mit.edu 37 7 21469712 21469712 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:21469712C>T uc003sva.3 + 2 1110 c.929C>T c.(928-930)tCt>tTt p.S310F SP4_uc003svb.3_5'UTR NM_003112 NP_003103 Q02446 SP4_HUMAN Homo sapiens Sp4 transcription factor (SP4), mRNA. 310 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 ACCACTACTTCTGCCAGTACT 0.522000 62 4 0 0 1 0 0 GOT1L1 137362 broad.mit.edu 37 8 37791993 37791993 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:37791993C>T uc011lbj.1 - 8 1184 c.1084G>A c.(1084-1086)Gaa>Aaa p.E362K NM_152413 NP_689626 Q8NHS2 AATC2_HUMAN Homo sapiens glutamic-oxaloacetic transaminase 1-like 1 (GOT1L1), mRNA. 362 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1) 14 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) ACCAGGTATTCCACCTGCTGG 0.423000 121 6 0 0 1 0 0 ATP2B4 493 broad.mit.edu 37 1 203668766 203668766 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:203668766C>T uc001gzw.3 + 3 1467 c.570C>T c.(568-570)ttC>ttT p.F190F ATP2B4_uc001gzv.3_Silent_p.F190F|ATP2B4_uc009xaq.3_Silent_p.F190F NM_001684 NP_001675 P23634 AT2B4_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA. 190 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) AGCAAAAGTTCTCCATCATCC 0.488000 127 18 0 0 1 0 0 FOXS1 2307 broad.mit.edu 37 20 30432759 30432759 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:30432759G>A uc002wwt.1 - 0 662 c.587C>T c.(586-588)tCc>tTc p.S196F NM_004118 NP_004109 O43638 FOXS1_HUMAN Homo sapiens forkhead box S1 (FOXS1), mRNA. 196 Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 CTTGGGCGTGGAAATCTCTTT 0.632000 59 6 0 0 1 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64719062 64719062 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:64719062G>A uc010nko.3 + 2 999 c.932G>A c.(931-933)tGg>tAg p.W311* NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA. 300 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AAGCCAGAATGGAAGAAGTTT 0.398000 22 4 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57829518 57829518 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:57829518G>A uc002yan.3 + 4 4754 c.4754G>A c.(4753-4755)aGa>aAa p.R1585K NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1585 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AAGGAAGGGAGACACAAGACG 0.473000 26 7 0 0 1 0 0 SCARA3 51435 broad.mit.edu 37 8 27516190 27516190 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:27516190C>T uc003xga.1 + 4 644 c.503C>T c.(502-504)tCc>tTc p.S168F SCARA3_uc003xgb.1_Missense_Mutation_p.S168F NM_016240 NP_057324 Q6AZY7 SCAR3_HUMAN Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA. 168 UV protection|response to oxidative stress Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane scavenger receptor activity breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 9 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148) AGACAAATCTCCCAGGAGATG 0.612000 57 4 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65184496 65184496 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:65184496G>A uc010wqk.2 - 11 1288 c.1101C>T c.(1099-1101)ttC>ttT p.F367F HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Silent_p.F367F NM_014877 NP_055692 Homo sapiens helicase with zinc finger (HELZ), mRNA. NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) ATCCAAAGTCGAAAACTATGG 0.368000 92 10 0 0 1 0 0 MYL2 4633 broad.mit.edu 37 12 111348965 111348965 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:111348965G>A uc001try.4 - 6 488 c.417C>T c.(415-417)ttC>ttT p.F139F MYL2_uc001trx.4_Silent_p.F120F NM_000432 NP_000423 P10916 MLRV_HUMAN Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA. 139 EF-hand 3. cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 12 GGAAGGCGGCGAACATCTGGT 0.617000 94 8 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115143572 115143572 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:115143572C>T uc001efd.1 - 13 2527 c.1825G>A c.(1825-1827)Gaa>Aaa p.E609K DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.E552K NM_198459 NP_940861 Q68D51 DEN2C_HUMAN Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA. 609 DENN. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCTCTACTTCATCCAGAATC 0.403000 45 5 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67066400 67066400 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:67066400A>G uc003xvv.3 + 8 1581 c.1355A>G c.(1354-1356)aAa>aGa p.K452R TRIM55_uc003xvu.3_Missense_Mutation_p.K452R|TRIM55_uc003xvw.3_Intron|TRIM55_uc003xvx.3_Intron NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA. 452 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding p.R451Q(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) CAAACCCGGAAAGCCACCACC 0.557000 23 3 0 0 1 0 0 KRTAP4-2 85291 broad.mit.edu 37 17 39334336 39334336 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39334336C>T uc002hwd.3 - 0 125 c.81G>A c.(79-81)caG>caA p.Q27Q NM_033062 NP_149051 Q9BYR5 KRA42_HUMAN Homo sapiens keratin associated protein 4-2 (KRTAP4-2), mRNA. 27 20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament kidney(2)|lung(4)|upper_aerodigestive_tract(1) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) AGCAGGTGGTCTGGCAGCAGC 0.637000 83 21 0 0 1 0 0 SERPINA4 5267 broad.mit.edu 37 14 95035857 95035857 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:95035857C>T uc010avd.3 + 4 1594 c.1320C>T c.(1318-1320)ttC>ttT p.F440F SERPINA4_uc001ydk.3_Silent_p.F403F|SERPINA4_uc001ydl.3_Silent_p.F403F NM_006215 NP_006206 P29622 KAIN_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA. 403 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) ACCGGCCCTTCCTTGTGGTGA 0.582000 58 5 0 0 1 0 0 UROC1 131669 broad.mit.edu 37 3 126227301 126227301 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:126227301C>T uc010hsi.2 - 3 423 c.369G>A c.(367-369)gtG>gtA p.V123V UROC1_uc003eiz.2_Silent_p.V123V NM_001165974 NP_001159446 Q96N76 HUTU_HUMAN Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA. 123 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) CTCCATAGGTCACCAGCTCCT 0.602000 21 4 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71756878 71756878 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:71756878G>A uc003kce.1 - 1 632 c.446C>T c.(445-447)cCc>cTc p.P149L NM_152625 NP_689838 Q8N895 ZN366_HUMAN Homo sapiens zinc finger protein 366 (ZNF366), mRNA. 149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P149P(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) CTGCTTGACGGGCTTGCCCCC 0.627000 120 11 0 0 1 0 0 FAS 355 broad.mit.edu 37 10 90773985 90773985 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:90773985C>T uc001kfr.3 + 8 1132 c.786C>T c.(784-786)atC>atT p.I262I FAS_uc010qna.2_Non-coding_Transcript|FAS_uc001kft.3_Silent_p.I241I|FAS_uc010qnb.2_Non-coding_Transcript|FAS_uc001kfs.3_3'UTR|FAS_uc010qnc.2_Non-coding_Transcript|FAS_uc010qnd.2_Non-coding_Transcript|FAS_uc010qne.2_Non-coding_Transcript|FAS_uc001kfw.3_3'UTR|FAS_uc009xtp.3_Non-coding_Transcript NM_000043 NP_000034 P25445 TNR6_HUMAN Homo sapiens Fas (TNF receptor superfamily, member 6) (FAS), transcript variant 1, mRNA. 262 Death.|Interaction with HIPK3 (By similarity). I -> S (in ALPS1A). activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) TAGATGAGATCAAGAATGACA 0.373000 35 6 0 0 1 0 0 MANEAL 149175 broad.mit.edu 37 1 38260270 38260270 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:38260270C>T uc001cby.2 + 0 497 c.416C>T c.(415-417)gCc>gTc p.A139V MANEAL_uc001cbx.2_Missense_Mutation_p.A139V|MANEAL_uc001cbz.2_5'Flank NM_001113482 NP_001106954 Q5VSG8 MANEL_HUMAN Homo sapiens mannosidase, endo-alpha-like (MANEAL), transcript variant 3, mRNA. 139 Golgi membrane|integral to membrane hydrolase activity endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3) 7 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AAGATCTCGGCCAGCTACCCC 0.692000 41 5 0 0 1 0 0 FAM102A 399665 broad.mit.edu 37 9 130710405 130710405 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:130710405G>A uc004bsx.2 - 5 957 c.561C>T c.(559-561)acC>acT p.T187T FAM102A_uc004bsw.1_Silent_p.T45T|FAM102A_uc004bsy.1_5'UTR NM_001035254 NP_976050 Q5T9C2 F102A_HUMAN Homo sapiens family with sequence similarity 102, member A (FAM102A), transcript variant 1, mRNA. 187 Ser-rich. breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 TCAGGGAGTTGGTGCTGCTGC 0.652000 68 5 0 0 1 0 0 C12orf74 338809 broad.mit.edu 37 12 93100509 93100509 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:93100509C>T uc001tch.2 + 1 553 c.102C>T c.(100-102)ctC>ctT p.L34L C12orf74_uc001tci.3_Silent_p.L34L|C12orf74_uc021rbt.1_Silent_p.L34L NM_001037671 NP_001032760 Q32Q52 CL074_HUMAN Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA. 34 kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 10 AGGGGAGTCTCCTCCAGTTTG 0.612000 36 4 0 0 1 0 0 C14orf21 161424 broad.mit.edu 37 14 24769388 24769388 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:24769388C>T uc001wol.1 + 0 291 c.228C>T c.(226-228)ccC>ccT p.P76P C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.2_5'Flank|DHRS1_uc001wok.3_5'Flank NM_174913 NP_777573 Q86U38 CN021_HUMAN Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA. 76 RNA binding breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3) 17 GBM - Glioblastoma multiforme(265;0.0185) AAGAGGCTCCCGAGACTGGGG 0.612000 92 4 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97822641 97822641 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:97822641C>T uc003upd.2 + 10 3157 c.2864C>T c.(2863-2865)tCt>tTt p.S955F NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA. 955 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CAGCTCAATTCTAAAGACGCA 0.502000 104 14 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114214640 114214640 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:114214640C>T uc003ibe.4 + 21 2521 c.2421C>T c.(2419-2421)atC>atT p.I807I ANK2_uc003ibd.4_Silent_p.I786I|ANK2_uc003ibf.4_Silent_p.I807I|ANK2_uc011cgc.2_Silent_p.I16I|ANK2_uc003ibc.2_Silent_p.I783I|ANK2_uc011cgb.1_Silent_p.I822I NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 807 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGGGCTACATCTCCGTGGTCG 0.502000 32 9 0 0 1 0 0 SLC22A16 85413 broad.mit.edu 37 6 110757099 110757099 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:110757099G>A uc003puf.3 - 5 1444 c.1377C>T c.(1375-1377)ggC>ggT p.G459G SLC22A16_uc003pue.3_Silent_p.G440G NM_033125 NP_149116 Q86VW1 S22AG_HUMAN Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA. 459 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) GATAAATGAGGCCAAATGCTG 0.363000 42 6 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3669122 3669122 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:3669122C>T uc001akv.2 + 0 158 c.77C>T c.(76-78)tCa>tTa p.S26L NM_152492 NP_689705 Q2M243 CCD27_HUMAN Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA. 26 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) GGCCTGTCCTCATTCAGGTCC 0.572000 84 7 0 0 1 0 0 KIAA1644 85352 broad.mit.edu 37 22 44681590 44681590 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:44681590C>T uc003bet.2 - 3 450 c.317G>A c.(316-318)gGa>gAa p.G106E NM_001099294 NP_001092764 Q3SXP7 K1644_HUMAN Homo sapiens KIAA1644 (KIAA1644), mRNA. 106 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) CACGAAAAATCCATAGATCCA 0.527000 144 14 0 0 1 0 0 BCAM 4059 broad.mit.edu 37 19 45315790 45315790 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:45315790G>A uc002ozu.3 + 3 533 c.489G>A c.(487-489)gaG>gaA p.E163E BCAM_uc002ozt.1_Silent_p.E163E NM_005581 NP_005572 P50895 BCAM_HUMAN Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA. 163 Ig-like V-type 2. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) CTGTGATGGAGGACTCTGCCC 0.647000 298 18 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103926 53103927 + Missense_Mutation DNP GG AA AA rs1689291 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:53103926_53103927GG>AA uc003tpz.3 + 0 578_579 c.562_563GG>AA c.(562-564)gga>AAa p.G188K NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 188 G -> E (in dbSNP:rs1689291). endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GTGCCCCAAGGGAAGCGCTAGG 0.713000 67 10 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227886826 227886826 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:227886826G>A uc021vxr.1 - 42 4255 c.4154C>T c.(4153-4155)cCa>cTa p.P1385L COL4A4_uc021vxs.1_Missense_Mutation_p.P1382L NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 1385 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TCTCATGCCTGGCGCCCCAGG 0.562000 193 12 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31570493 31570493 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:31570493G>A uc002rnv.1 - 28 3250 c.3171C>T c.(3169-3171)atC>atT p.I1057I NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 1057 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TAGAGGTGGGGATTTTCAGAG 0.542000 66 24 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79571762 79571762 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:79571762G>A uc001jzk.3 - 21 4312 c.4242C>T c.(4240-4242)atC>atT p.I1414I DLG5_uc001jzi.3_Silent_p.I169I|DLG5_uc001jzj.3_Silent_p.I829I|DLG5_uc009xru.1_Non-coding_Transcript NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA. 1414 PDZ 3. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) ACTGCTGCCCGATGATGAGCC 0.657000 62 5 0 0 1 0 0 OGDH 4967 broad.mit.edu 37 7 44713474 44713474 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:44713474C>T uc003tln.3 + 5 881 c.722C>T c.(721-723)cCt>cTt p.P241L OGDH_uc003tlm.3_Missense_Mutation_p.P241L|OGDH_uc011kbx.2_Missense_Mutation_p.P237L|OGDH_uc011kby.2_Intron|OGDH_uc003tlp.3_Missense_Mutation_p.P252L|OGDH_uc011kbz.2_Intron|OGDH_uc003tlo.1_Missense_Mutation_p.P74L NM_002541 NP_002532 Q02218 ODO1_HUMAN Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 241 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TTTGAGACCCCTGGGATCATG 0.557000 100 4 0 0 1 0 0 PRDM11 56981 broad.mit.edu 37 11 45241245 45241245 + Missense_Mutation SNP G A A rs145462396 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:45241245G>A uc001myo.3 + 6 1030 c.781G>A c.(781-783)Gag>Aag p.E261K NM_020229 NP_064614 Q9NQV5 PRD11_HUMAN Homo sapiens PR domain containing 11 (PRDM11), mRNA. 261 SET. endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 CTGGTACAGCGAGGACTACAT 0.627000 27 6 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37730366 37730366 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:37730366G>A uc003xkm.2 - 3 2010 c.1954C>T c.(1954-1956)Ctg>Ttg p.L652L RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA. 652 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding p.L652L(1) NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) AGTGATCCCAGGGCAGAAGAA 0.512000 101 12 0 0 1 0 0 PLLP 51090 broad.mit.edu 37 16 57295928 57295928 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:57295928G>A uc002elg.2 - 1 322 c.190C>T c.(190-192)Ccg>Tcg p.P64S NM_015993 NP_057077 Q9Y342 PLLP_HUMAN Homo sapiens plasmolipin (PLLP), mRNA. 64 MARVEL. integral to membrane ion channel activity endometrium(1)|prostate(1) 2 CCATAGGCCGGATACAGGTGG 0.562000 51 4 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38917675 38917675 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:38917675G>A uc003jln.2 + 9 1715 c.1313G>A c.(1312-1314)aGa>aAa p.R438K OSMR_uc011cpj.2_5'UTR NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 438 Fibronectin type-III 2. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) GATGTCTGGAGAATTGTGAGC 0.398000 60 4 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34015871 34015872 + Missense_Mutation DNP CC TT TT rs149704396 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:34015871_34015872CC>TT uc001bxm.1 - 55 8999_9000 c.8822_8823GG>AA c.(8821-8823)cgg>cAA p.R2941Q CSMD2_uc001bxn.1_Missense_Mutation_p.R2797Q NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2917 Sushi 21. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGCAGCTGTACCGCACCACTGC 0.599000 65 10 0 0 1 0 0 GRHPR 9380 broad.mit.edu 37 9 37424932 37424932 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:37424932C>T uc003zzu.1 + 1 215 c.174C>T c.(172-174)ctC>ctT p.L58L GRHPR_uc010mlu.3_5'UTR|GRHPR_uc010mlv.1_5'UTR|GRHPR_uc003zzt.1_5'UTR NM_012203 NP_036335 Q9UBQ7 GRHPR_HUMAN Homo sapiens glyoxylate reductase/hydroxypyruvate reductase (GRHPR), mRNA. 58 cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process peroxisomal matrix NAD binding|glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GBM - Glioblastoma multiforme(29;0.00687) TGCTCTGCCTCCTCTCCGACC 0.672000 54 4 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955477 18955477 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:18955477C>T uc001mpg.3 - 0 1073 c.855G>A c.(853-855)caG>caA p.Q285Q NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA. 285 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GCTTCAGGTTCTGCCTATTTT 0.522000 91 9 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17038839 17038839 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:17038839C>T uc002nfb.3 - 24 3523 c.3491G>A c.(3490-3492)cGa>cAa p.R1164Q NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 1117 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GGCGGTGGCTCGCTCAGACCC 0.617000 77 13 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130926676 130926676 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:130926676C>T uc001uil.2 - 7 1386 c.1170G>A c.(1168-1170)gtG>gtA p.V390V RIMBP2_uc001uim.3_Silent_p.V298V NM_015347 NP_056162 O15034 RIMB2_HUMAN Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA. 390 cell junction|synapse p.D389N(1) NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GGGCCACCACCACGTCCTTGC 0.637000 28 4 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60886036 60886036 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:60886036G>A uc002ycq.3 - 73 10270 c.10203C>T c.(10201-10203)ttC>ttT p.F3401F LAMA5_uc021wfw.1_Silent_p.F3401F NM_005560 NP_005551 O15230 LAMA5_HUMAN Homo sapiens laminin, alpha 5 (LAMA5), mRNA. 3401 Laminin G-like 4. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTGTGCAACGAAGTGGCCAT 0.692000 45 14 0 0 1 0 0 FKBP5 2289 broad.mit.edu 37 6 35547963 35547963 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:35547963C>T uc011dte.1 - 8 1079 c.876G>A c.(874-876)ggG>ggA p.G292G FKBP5_uc003okx.2_Silent_p.G292G|FKBP5_uc011dtf.1_Silent_p.G113G|FKBP5_uc003oky.2_Silent_p.G292G NM_001145776 NP_004108 Q13451 FKBP5_HUMAN Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA. 292 protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 ACACTATCTTCCCATACTGAA 0.428000 90 8 0 0 1 0 0 PTPRA 5786 broad.mit.edu 37 20 3003365 3003365 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:3003365C>T uc010zqd.2 + 14 1709 c.1392C>T c.(1390-1392)gtC>gtT p.V464V PTPRA_uc002whj.3_Silent_p.V453V|PTPRA_uc002whk.3_Silent_p.V444V|PTPRA_uc002whl.3_Silent_p.V444V|PTPRA_uc002whm.3_Silent_p.V220V|PTPRA_uc002whn.3_Silent_p.V444V|PTPRA_uc002who.3_Silent_p.V116V NM_002836 NP_002827 P18433 PTPRA_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA. 453 Tyrosine-protein phosphatase 1. axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GTACCTTTGTCGTCATTGATG 0.572000 62 10 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143074502 143074502 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:143074502G>A uc003qjd.3 - 9 7826 c.7083C>T c.(7081-7083)ccC>ccT p.P2361P NM_006734 NP_006725 P31629 ZEP2_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA. 2361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CACTTCCCAGGGGGTTCTGGT 0.577000 31 5 0 0 1 0 0 ELP3 55140 broad.mit.edu 37 8 27995239 27995239 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:27995239C>T uc003xgo.4 + 9 1079 c.931C>T c.(931-933)Cgt>Tgt p.R311C ELP3_uc003xgn.4_Missense_Mutation_p.R296C|ELP3_uc011las.2_Missense_Mutation_p.R192C|ELP3_uc011lat.2_Missense_Mutation_p.R192C|ELP3_uc011laq.2_Missense_Mutation_p.R239C|ELP3_uc011lar.2_Missense_Mutation_p.R219C NM_018091 NP_060561 Q9H9T3 ELP3_HUMAN Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA. 311 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) CCCTGCTTTTCGTCCCGATGG 0.453000 37 5 0 0 1 0 0 DGKZ 8525 broad.mit.edu 37 11 46392918 46392918 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:46392918C>T uc001ncn.1 + 7 1315 c.1190C>T c.(1189-1191)tCg>tTg p.S397L DGKZ_uc001nch.2_Missense_Mutation_p.S225L|DGKZ_uc010rgq.2_Missense_Mutation_p.S191L|DGKZ_uc010rgr.2_Missense_Mutation_p.S213L|DGKZ_uc001ncj.2_Missense_Mutation_p.S175L|DGKZ_uc001nck.2_5'UTR|DGKZ_uc001ncm.2_Missense_Mutation_p.S208L|DGKZ_uc001ncl.2_Missense_Mutation_p.S209L|DGKZ_uc009yky.1_Missense_Mutation_p.S209L|DGKZ_uc010rgs.1_Missense_Mutation_p.S186L NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA. 397 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) ATCAGCTGCTCGTGGTGCAAG 0.642000 95 8 0 0 1 0 0 QSOX1 5768 broad.mit.edu 37 1 180163482 180163482 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:180163482C>T uc001gnz.3 + 10 1498 c.1423C>T c.(1423-1425)Ctc>Ttc p.L475F QSOX1_uc001gny.3_Missense_Mutation_p.L475F NM_002826 NP_002817 O00391 QSOX1_HUMAN Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA. 475 ERV/ALR sulfhydryl oxidase. cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 CGCCGCTGTCCTCTGGCTCTG 0.622000 76 8 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101381342 101381342 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:101381342C>T uc010svm.1 + 7 1200 c.628C>T c.(628-630)Cgg>Tgg p.R210W ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.R175W|ANO4_uc001thx.2_Missense_Mutation_p.R210W NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 210 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AAGCAGGTTTCGGAGATGGTT 0.507000 HNSCC(74;0.22) OREG0022059 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 118 15 0 0 1 0 0 CSF2RA 1438 broad.mit.edu 37 X 1404801 1404801 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:1404801C>T uc010nct.2 + 4 529 c.207C>T c.(205-207)gtC>gtT p.V69V CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.V69V|CSF2RA_uc004cpq.2_Silent_p.V69V|CSF2RA_uc004cpn.2_Silent_p.V69V|CSF2RA_uc004cpo.2_Silent_p.V69V|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Intron|CSF2RA_uc004cpp.2_Silent_p.V69V|CSF2RA_uc010ncv.2_Silent_p.V69V|CSF2RA_uc004cpr.2_Silent_p.V69V NM_001161529 NP_001155004 P15509 CSF2R_HUMAN Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA. 69 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) AGAACAGAGTCGTGGAACCCA 0.502000 222 12 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1921025 1921025 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:1921025G>A uc002qxe.3 - 10 2397 c.1570C>T c.(1570-1572)Cac>Tac p.H524Y MYT1L_uc002qxd.3_Missense_Mutation_p.H522Y|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 524 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) AGGCTGCGGTGATGTGGGTAC 0.557000 183 18 0 0 1 0 0 KBTBD5 131377 broad.mit.edu 37 3 42727348 42727348 + Missense_Mutation SNP G A A rs144461124 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:42727348G>A uc003clv.1 + 0 338 c.238G>A c.(238-240)Gac>Aac p.D80N NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA. 80 BTB. breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(284;0.214) GGTGTCCCCGGACGTGGTGGC 0.677000 37 6 0 0 1 0 0 HSP90AB3P 3327 broad.mit.edu 37 4 88813477 88813477 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:88813477G>A uc010iko.1 + 1 421 c.421G>A c.(421-423)Gga>Aga p.G141R Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA. GTCTTCTGCTGGAGGTTCCTT 0.468000 38 6 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27497395 27497395 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:27497395G>A uc002dov.2 - 23 3821 c.3781C>T c.(3781-3783)Ctt>Ttt p.L1261F GTF3C1_uc002dou.3_Missense_Mutation_p.L1261F NM_001520 NP_001511 Q12789 TF3C1_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA. 1261 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GTGACACGAAGCCGCGTCATC 0.572000 161 11 0 0 1 0 0 LMAN1L 79748 broad.mit.edu 37 15 75108815 75108816 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:75108815_75108816GG>AA uc002ayt.1 + 2 380_381 c.378_379GG>AA c.(376-381)gggggg>ggAAgg p.G127R LMAN1L_uc010bkd.2_Missense_Mutation_p.G55R|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Missense_Mutation_p.G127R NM_021819 NP_068591 Q9HAT1 LMA1L_HUMAN Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA. 127 L-type lectin-like. ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CTGTCCTTGGGGGGCTGGCTTC 0.668000 114 10 0 0 1 0 0 FAM181A 90050 broad.mit.edu 37 14 94394934 94394934 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:94394934G>A uc001ybz.2 + 2 814 c.489G>A c.(487-489)agG>agA p.R163R FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Silent_p.R101R|FAM181A_uc021saz.1_Silent_p.R101R|FAM181A_uc010aus.2_Silent_p.R101R|FAM181A_uc001yca.2_Silent_p.R101R NM_138344 NP_001194003 Q8N9Y4 F181A_HUMAN Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA. 163 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 AGGTGCTGAGGAACCCCTACA 0.632000 63 9 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101715970 101715970 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:101715970G>A uc001kqj.2 - 3 1353 c.1261C>T c.(1261-1263)Cat>Tat p.H421Y DNMBP-AS1_uc001kqk.1_Intron NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN Homo sapiens dynamin binding protein (DNMBP), mRNA. 421 intracellular signal transduction|regulation of Rho protein signal transduction Golgi stack|cell junction|cytoskeleton|synapse Rho guanyl-nucleotide exchange factor activity|protein binding central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) AAGTTGGGATGAAAAGGGACC 0.527000 132 9 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1796238 1796238 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:1796238G>A uc002ltw.3 - 16 2014 c.1780C>T c.(1780-1782)Ccc>Tcc p.P594S ATP8B3_uc002ltv.3_Missense_Mutation_p.P547S|ATP8B3_uc002ltx.3_Non-coding_Transcript NM_138813 NP_620168 O60423 AT8B3_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA. 594 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCTCGTCGGGGGAGGCCGCC 0.662000 OREG0025127 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 7 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25570308 25570308 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:25570308C>T uc002kwg.2 - 9 1810 c.1351G>A c.(1351-1353)Gac>Aac p.D451N CDH2_uc010xbn.1_Missense_Mutation_p.D420N NM_001792 NP_001783 P19022 CADH2_HUMAN Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA. 451 Cadherin 3. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GTTTCAAAGTCGATTGGCTGG 0.393000 28 5 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220350093 220350093 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:220350093C>T uc010fwg.3 + 30 7635 c.7635C>T c.(7633-7635)ctC>ctT p.L2545L NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 2545 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity p.R2544L(1) breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GAAGCCGGCTCCGCTGGGGCT 0.622000 110 17 0 0 1 0 0 TBC1D25 4943 broad.mit.edu 37 X 48399769 48399769 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:48399769C>T uc011mmb.1 + 1 270 c.184C>T c.(184-186)Ccc>Tcc p.P62S TBC1D25_uc004dka.1_Missense_Mutation_p.P58S|TBC1D25_uc011mly.1_5'UTR|TBC1D25_uc004dkb.1_5'UTR|TBC1D25_uc011mlz.1_Intron|TBC1D25_uc011mma.1_5'UTR|TBC1D25_uc004dkc.1_5'UTR|TBC1D25_uc011mmd.1_5'UTR|TBC1D25_uc011mmc.1_5'UTR NM_002536 NP_002527 Q3MII6 TBC25_HUMAN Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA. 58 intracellular Rab GTPase activator activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 TGCTGTAGATCCCCAGATCAC 0.582000 110 17 0 0 1 0 0 TNNT3 7140 broad.mit.edu 37 11 1944290 1944290 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:1944290G>A uc001luu.4 + 3 243 c.31_splice c.e3+1 p.E11_splice TNNT3_uc001lun.2_Splice_Site_p.E11_splice|TNNT3_uc001luw.4_Splice_Site_p.E11_splice|TNNT3_uc001luo.4_Splice_Site_p.E11_splice|TNNT3_uc001lup.4_Splice_Site_p.E11_splice|TNNT3_uc001luq.4_Splice_Site_p.E11_splice|TNNT3_uc001lur.3_Splice_Site_p.E11_splice|TNNT3_uc010qxf.2_Splice_Site_p.E11_splice|TNNT3_uc010qxg.2_Intron|TNNT3_uc001lus.1_Splice_Site|TNNT3_uc001lut.1_Splice_Site NM_006757 NP_006748 P45378 TNNT3_HUMAN Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA. 11 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) AACAGGTGGAGGGTAAGTGTA 0.532000 132 10 0 0 1 0 0 USF2 7392 broad.mit.edu 37 19 35761365 35761365 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:35761365C>T uc010xss.1 + 4 554 c.445C>T c.(445-447)Ccc>Tcc p.P149S USF2_uc002nyq.1_Missense_Mutation_p.P149S|USF2_uc002nyr.1_Missense_Mutation_p.P82S|USF2_uc002nyt.1_Intron|USF2_uc002nyv.1_5'UTR Q15853 USF2_HUMAN Homo sapiens upstream transcription factor 2, c-fos interacting (USF2), transcript variant 1, mRNA. 149 lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose nucleus bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1) 13 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) GATCCAAAATCCCTTCAGCAA 0.587000 63 7 0 0 1 0 0 SEPT14 346288 broad.mit.edu 37 7 55914312 55914312 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:55914312G>A uc003tqz.2 - 2 190 c.73C>T c.(73-75)Cgt>Tgt p.R25C NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN Homo sapiens septin 14 (SEPT14), mRNA. 25 cell cycle|cell division septin complex GTP binding|protein binding p.R25C(4) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GTTAAACAACGAATATTATTT 0.284000 50 10 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121786522 121786522 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:121786522G>A uc003ksw.1 + 9 2186 c.1980G>A c.(1978-1980)agG>agA p.R660R SNCAIP_uc011cwl.1_Silent_p.R218R|SNCAIP_uc003ksy.1_Silent_p.R294R|SNCAIP_uc003ksx.1_Silent_p.R707R|SNCAIP_uc003ksz.1_Silent_p.R294R|SNCAIP_uc010jcu.2_Silent_p.R256R|SNCAIP_uc011cwm.1_Silent_p.R294R|SNCAIP_uc003kta.1_Silent_p.R292R|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.R354R|SNCAIP_uc010jcx.1_Silent_p.R600R|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.R176R NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 660 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) TGGAGAAGAGGGAACTGAAGT 0.483000 21 4 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940432 144940432 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:144940432G>A uc003zaa.1 - 0 7003 c.6990C>T c.(6988-6990)atC>atT p.I2330I NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 2330 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCTCCCGGACGATGAGGTCCT 0.697000 305 10 0 0 1 0 0 FPR1 2357 broad.mit.edu 37 19 52249761 52249761 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:52249761G>A uc021uyn.1 - 2 633 c.487C>T c.(487-489)Cgt>Tgt p.R163C FPR1_uc002pxq.3_Missense_Mutation_p.R163C|FPR1_uc021uyo.1_Missense_Mutation_p.R163C NM_001193306 NP_002020 P21462 FPR1_HUMAN Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA. 163 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) GTAGTCACACGAATGATAACT 0.537000 51 7 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33498838 33498838 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:33498838G>A uc021vft.1 + 15 2756 c.2733G>A c.(2731-2733)agG>agA p.R911R LTBP1_uc002rou.3_Silent_p.R585R|LTBP1_uc002rov.3_Silent_p.R532R|LTBP1_uc010ymz.2_Silent_p.R585R|LTBP1_uc010yna.2_Silent_p.R532R NM_206943 NP_996826 Q14766 LTBP1_HUMAN Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA. 911 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AACAACAGAGGAAATGTGTGG 0.363000 16 3 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68115558 68115558 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:68115558G>A uc001ont.3 + 1 410 c.335G>A c.(334-336)gGc>gAc p.G112D LRP5_uc009ysg.3_5'UTR NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 112 Beta-propeller 1. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCTCCCGACGGCCTCGCCTGC 0.637000 100 20 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129030501 129030501 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:129030501G>A uc003kvb.1 + 18 2889 c.2889G>A c.(2887-2889)aaG>aaA p.K963K ADAMTS19_uc010jdh.1_Non-coding_Transcript NM_133638 NP_598377 Q8TE59 ATS19_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA. 963 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) ACTTAACCAAGCCAGAGCCAC 0.398000 25 3 0 0 1 0 0 CELF2 10659 broad.mit.edu 37 10 11367872 11367872 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:11367872C>T uc001ikk.2 + 12 1564 c.1404C>T c.(1402-1404)ttC>ttT p.F468F CELF2_uc010qbj.1_Silent_p.F449F|CELF2_uc001iki.4_Silent_p.F443F|CELF2_uc001ikl.4_Silent_p.F456F|CELF2_uc010qbl.1_Silent_p.F419F|CELF2_uc010qbm.1_Silent_p.F215F|CELF2_uc001iko.4_Silent_p.F423F|CELF2_uc001ikp.4_Silent_p.F425F|CELF2_uc010qbo.1_Silent_p.F338F|CELF2_uc010qbp.1_Silent_p.F215F NM_001083591 NP_001077060 O95319 CELF2_HUMAN Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 4, mRNA. 443 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3. mRNA processing|regulation of heart contraction cytoplasm|nucleus RNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 TGCAGATGTTCATGCCTTTTG 0.403000 56 5 0 0 1 0 0 SLC16A1 6566 broad.mit.edu 37 1 113460261 113460261 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:113460261G>A uc001ecx.3 - 3 1599 c.767C>T c.(766-768)aCc>aTc p.T256I SLC16A1_uc001ecy.3_Missense_Mutation_p.T256I|SLC16A1_uc001ecz.3_Missense_Mutation_p.T256I NM_001166496 NP_003042 P53985 MOT1_HUMAN Homo sapiens solute carrier family 16, member 1 (monocarboxylic acid transporter 1) (SLC16A1), transcript variant 2, mRNA. 256 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1) 20 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) GGTGAATAGGGTTAAGTCCAG 0.383000 52 7 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66058371 66058371 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:66058371C>T uc001dci.3 + 5 915 c.526C>T c.(526-528)Ccc>Tcc p.P176S LEPR_uc001dcg.3_Missense_Mutation_p.P176S|LEPR_uc001dch.3_Missense_Mutation_p.P176S|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.P176S|LEPR_uc001dcj.3_Missense_Mutation_p.P176S|LEPR_uc001dck.3_Missense_Mutation_p.P176S NM_002303 NP_002294 P48357 LEPR_HUMAN Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA. 176 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) ACCTCTGGTTCCCCAAAAAGG 0.388000 7 3 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36779910 36779910 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:36779910C>T uc003cgi.2 - 1 732 c.241G>A c.(241-243)Gag>Aag p.E81K NM_033403 NP_208382 Q9C098 DCLK3_HUMAN Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA. 81 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 GAAAGCTCCTCGGGGATCTTC 0.607000 162 7 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169209337 169209337 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:169209337C>T uc003irp.3 - 8 1463 c.1171G>A c.(1171-1173)Gaa>Aaa p.E391K NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 391 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TTTACATTTTCATTTTCATAG 0.244000 40 5 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390707 197390707 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:197390707C>T uc001gtz.3 + 5 1958 c.1749C>T c.(1747-1749)atC>atT p.I583I CRB1_uc010poz.2_Silent_p.I514I|CRB1_uc009wza.3_Silent_p.I471I|CRB1_uc010ppa.2_Intron|CRB1_uc010ppb.2_Silent_p.I583I|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.2_Silent_p.I64I|CRB1_uc001gub.1_Silent_p.I232I NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 583 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.I583I(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TTACCTTAATCGACGACTCCT 0.448000 50 5 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20721258 20721258 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:20721258G>A uc010kuh.3 + 14 2075 c.1838G>A c.(1837-1839)cGa>cAa p.R613Q ABCB5_uc003suw.4_Missense_Mutation_p.R168Q NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 168 ABC transporter 2. regulation of membrane potential Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity p.S612T(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 ATGGCAAAACGAGGTCTATAT 0.418000 47 8 0 0 1 0 0 C17orf66 256957 broad.mit.edu 37 17 34191814 34191814 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:34191814C>T uc002hke.1 - 3 550 c.401G>A c.(400-402)cGa>cAa p.R134Q C17orf66_uc010wck.1_Intron|C17orf66_uc010wcl.1_Intron|C17orf66_uc010wcm.1_Missense_Mutation_p.R100Q NM_152781 NP_689994 A2RTY3 CQ066_HUMAN Homo sapiens chromosome 17 open reading frame 66 (C17orf66), mRNA. 134 binding p.R134*(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4) 38 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) GGGCCTGGATCGCATCTCAGA 0.507000 73 7 0 0 1 0 0 SCUBE3 222663 broad.mit.edu 37 6 35210073 35210073 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:35210073G>A uc003okf.1 + 12 1516 c.1510G>A c.(1510-1512)Gag>Aag p.E504K SCUBE3_uc003okg.1_Missense_Mutation_p.E503K|SCUBE3_uc003okh.1_Missense_Mutation_p.E391K NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA. 504 protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 CAAAACAGAGGAGGCTGGCAG 0.547000 75 4 0 0 1 0 0 TNFRSF25 8718 broad.mit.edu 37 1 6522161 6522161 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:6522161G>A uc001anh.3 - 8 933 c.845C>T c.(844-846)aCc>aTc p.T282I TNFRSF25_uc001ana.3_Missense_Mutation_p.T90I|TNFRSF25_uc001anb.3_Non-coding_Transcript|TNFRSF25_uc001anc.3_Non-coding_Transcript|TNFRSF25_uc001and.3_Missense_Mutation_p.T46I|TNFRSF25_uc009vlz.3_Non-coding_Transcript|TNFRSF25_uc001ane.3_Missense_Mutation_p.T273I|TNFRSF25_uc001anf.3_Missense_Mutation_p.T236I|TNFRSF25_uc001ang.3_Missense_Mutation_p.T228I NM_148965 NP_683866 Q93038 TNR25_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA. 273 apoptosis|induction of apoptosis by extracellular signals cytosol|extracellular region|integral to plasma membrane tumor necrosis factor receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1) 10 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419) CAACTGGACGGTGCAGATCTT 0.637000 127 9 0 0 1 0 0 RAI2 10742 broad.mit.edu 37 X 17819666 17819666 + Silent SNP G C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:17819666G>C uc022btm.1 - 0 465 c.465C>G c.(463-465)ctC>ctG p.L155L RAI2_uc004cyf.3_Silent_p.L155L|RAI2_uc004cyg.3_Silent_p.L155L|RAI2_uc011miy.2_Silent_p.L105L|RAI2_uc022btl.1_Silent_p.L155L|RAI2_uc004cyh.4_Silent_p.L155L|RAI2_uc010nfa.3_Silent_p.L155L NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA. 155 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) CTCCCTGGAAGAGGTTGTTGT 0.647000 37 20 0 0 1 0 0 CEACAM1 634 broad.mit.edu 37 19 43031210 43031210 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:43031210C>T uc002otv.3 - 1 542 c.407G>A c.(406-408)gGa>gAa p.G136E AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eij.3_Missense_Mutation_p.G136E|CEACAM1_uc002otw.3_Missense_Mutation_p.G136E|CEACAM1_uc002otx.3_Missense_Mutation_p.G136E|CEACAM1_uc002oty.3_Missense_Mutation_p.G136E|CEACAM1_uc002otz.3_Missense_Mutation_p.G136E|CEACAM1_uc010eik.3_Missense_Mutation_p.G136E|CEACAM1_uc002oua.3_Missense_Mutation_p.G136E|CEACAM1_uc002oub.3_Missense_Mutation_p.G136E|CEACAM1_uc002ouc.3_Missense_Mutation_p.G136E NM_001712 NP_001703 P13688 CEAM1_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA. 136 Ig-like V-type. angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) ATGGAACTGTCCAGTTGCTTC 0.498000 250 13 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245862273 245862273 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:245862273C>T uc001ibf.1 + 13 6552 c.6112C>T c.(6112-6114)Ctg>Ttg p.L2038L NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN Homo sapiens kinesin family member 26B (KIF26B), mRNA. 2038 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GTACGAGTGGCTGATGAAGGA 0.557000 67 5 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180885828 180885828 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:180885828C>T uc001gok.2 + 1 656 c.589C>T c.(589-591)Cat>Tat p.H197Y NM_020950 NP_066001 Q5VZ46 K1614_HUMAN Homo sapiens KIAA1614 (KIAA1614), mRNA. 197 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 ACTTCCTGACCATGACAGAGG 0.627000 85 7 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458011 248458011 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:248458011C>T uc010pzj.2 - 0 870 c.870G>A c.(868-870)gtG>gtA p.V290V NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA. 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) CACTGTTCCTCACACTGTAGA 0.478000 109 15 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156590535 156590535 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:156590535C>T uc003lwn.3 - 1 841 c.741G>A c.(739-741)gcG>gcA p.A247A NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 247 Ala-rich. nucleus p.S246I(1) NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATGGAGAAGCCGCACTAGCCG 0.582000 88 5 0 0 1 0 0 C15orf38-AP3S2 100526783 broad.mit.edu 37 15 90451591 90451591 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:90451591G>A uc002bos.4 - 2 377 c.222C>T c.(220-222)ttC>ttT p.F74F C15orf38-AP3S2_uc002bot.1_Non-coding_Transcript|C15orf38-AP3S2_uc002bou.2_Silent_p.F74F NM_001199058 NP_001185987 E2QRD5 E2QRD5_HUMAN Homo sapiens C15orf38-AP3S2 readthrough (C15orf38-AP3S2), mRNA. 74 intracellular protein transport|vesicle-mediated transport membrane coat protein transporter activity p.F74F(1) CCTTGGCGTCGAATTTACGGC 0.582000 52 12 0 0 1 0 0 MS4A6E 245802 broad.mit.edu 37 11 60105276 60105276 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:60105276C>T uc001npd.3 + 1 224 c.210C>T c.(208-210)ctC>ctT p.L70L NM_139249 NP_640342 Q96DS6 M4A6E_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA. 70 integral to membrane receptor activity endometrium(2)|kidney(1)|lung(9)|stomach(1) 13 GTTTCATTCTCCTGTCTGTCA 0.463000 69 6 0 0 1 0 0 SERPINA11 256394 broad.mit.edu 37 14 94914805 94914805 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:94914805G>A uc001ydd.1 - 1 367 c.307C>T c.(307-309)Ctg>Ttg p.L103L NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA. 103 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) TTGAATCCCAGGCCCTCCAGG 0.602000 41 9 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766120 77766120 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:77766120C>T uc003yau.2 + 9 7350 c.6963C>T c.(6961-6963)ttC>ttT p.F2321F ZFHX4_uc003yaw.1_Silent_p.F2276F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 2276 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ATGTGGTTTTCCCCAGGATCT 0.393000 HNSCC(33;0.089) 49 9 0 0 1 0 0 NR5A2 2494 broad.mit.edu 37 1 200090064 200090064 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:200090064C>T uc001gvb.3 + 6 1565 c.1359C>T c.(1357-1359)ttC>ttT p.F453F NR5A2_uc001gvc.3_Silent_p.F407F|NR5A2_uc009wzh.3_Silent_p.F413F|NR5A2_uc010pph.2_Silent_p.F381F NM_205860 NP_995582 O00482 NR5A2_HUMAN Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA. 453 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) GTCTGAAATTCTTGGTGCTCT 0.423000 50 11 0 0 1 0 0 TRIM60 166655 broad.mit.edu 37 4 165962195 165962195 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:165962195G>A uc003iqy.1 + 2 1141 c.971G>A c.(970-972)cGa>cAa p.R324Q TRIM60_uc010iqx.1_Missense_Mutation_p.R324Q|TRIM60_uc021xty.1_Missense_Mutation_p.R324Q NM_152620 NP_689833 Q495X7 TRI60_HUMAN Homo sapiens tripartite motif containing 60 (TRIM60), mRNA. 324 B30.2/SPRY. intracellular zinc ion binding p.R324Q(2) NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) AGAAAAAAACGAAACATTTGT 0.418000 73 8 0 0 1 0 0 FOXP4 116113 broad.mit.edu 37 6 41555131 41555131 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:41555131C>T uc003oql.3 + 6 1211 c.753C>T c.(751-753)gaC>gaT p.D251D FOXP4_uc003oqm.3_Silent_p.D249D|FOXP4_uc003oqn.3_Silent_p.D250D NM_001012426 NP_001012426 Q8IVH2 FOXP4_HUMAN Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA. 251 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) AGGGGCTGGACCTCACTGGCA 0.687000 OREG0004065 type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 83 5 0 0 1 0 0 RBFOX2 23543 broad.mit.edu 37 22 36205895 36205895 + Missense_Mutation SNP A C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:36205895A>C uc003aon.4 - 2 506 c.394T>G c.(394-396)Tac>Gac p.Y132D RBFOX2_uc003aom.4_Missense_Mutation_p.Y62D|RBFOX2_uc003aol.4_Missense_Mutation_p.Y62D|RBFOX2_uc003aoj.4_Missense_Mutation_p.Y62D|RBFOX2_uc003aok.4_Missense_Mutation_p.Y62D|RBFOX2_uc003aoh.4_Missense_Mutation_p.Y62D|RBFOX2_uc010gwu.3_Missense_Mutation_p.Y42D|RBFOX2_uc003aoo.4_Missense_Mutation_p.Y132D NM_001082578 NP_001076047 O43251 RFOX2_HUMAN Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 2 (RBFOX2), transcript variant 5, mRNA. 72 RRM. RNA splicing|estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation cytoplasm|nucleus RNA binding|nucleotide binding|transcription corepressor activity|transcription factor binding endometrium(4)|large_intestine(7)|lung(7) 18 GTACTTCCGTAGAGTGTCAGG 0.542000 133 38 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756685 94756685 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:94756685G>A uc001yct.3 - 1 712 c.246C>T c.(244-246)ttC>ttT p.F82F SERPINA10_uc001ycu.4_Silent_p.F82F NM_016186 NP_057270 Q9UK55 ZPI_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA. 82 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) GGCTGAATCCGAAGTTTGAAG 0.562000 31 6 0 0 1 0 0 CREB5 9586 broad.mit.edu 37 7 28547345 28547345 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:28547345G>A uc003szq.3 + 3 671 c.281G>A c.(280-282)aGc>aAc p.S94N CREB5_uc003szo.3_Missense_Mutation_p.S61N|CREB5_uc003szr.3_Missense_Mutation_p.S87N NM_182898 NP_878902 Q02930 CREB5_HUMAN Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA. 94 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 GAAGAGGAGAGCAGCAAGCGG 0.567000 239 17 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2290335 2290335 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:2290335G>A uc002wfx.4 + 1 137 c.40G>A c.(40-42)Gcc>Acc p.A14T NM_003245 NP_003236 Q08188 TGM3_HUMAN Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA. 14 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity p.T13M(1) breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) CTGGCAGACGGCCTTCAACCG 0.527000 59 9 0 0 1 0 0 TAT 6898 broad.mit.edu 37 16 71606176 71606176 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:71606176C>T uc002fap.2 - 5 718 c.619G>A c.(619-621)Gaa>Aaa p.E207K NM_000353 NP_000344 P17735 ATTY_HUMAN Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA. 207 2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) GCTGTCTTTTCATCAATTAGA 0.418000 49 5 0 0 1 0 0 IGDCC3 9543 broad.mit.edu 37 15 65622733 65622733 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:65622733G>A uc002aos.2 - 10 2008 c.1756C>T c.(1756-1758)Ccc>Tcc p.P586S IGDCC3_uc002aor.1_5'Flank NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA. 586 Fibronectin type-III 2. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 ACTGCAGTGGGGTCTGGAGGA 0.607000 99 5 0 0 1 0 0 C7orf58 79974 broad.mit.edu 37 7 120884286 120884286 + Missense_Mutation SNP C T T rs148996529 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:120884286C>T uc003vjq.4 + 17 2651 c.2204C>T c.(2203-2205)tCg>tTg p.S735L C7orf58_uc003vjs.4_Missense_Mutation_p.S735L|C7orf58_uc003vjt.4_Missense_Mutation_p.S515L NM_024913 NP_079189 A4D0V7 CG058_HUMAN Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA. 735 endoplasmic reticulum p.S735L(2) breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 66 all_neural(327;0.117) CTTAGTTGTTCGGACAACAGG 0.468000 38 4 0 0 1 0 0 CYP1A1 1543 broad.mit.edu 37 15 75014049 75014049 + Missense_Mutation SNP G A A rs34260157 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:75014049G>A uc002ayp.4 - 2 957 c.835C>T c.(835-837)Cgg>Tgg p.R279W CYP1A1_uc010bjy.3_Missense_Mutation_p.R279W|CYP1A1_uc010bju.3_Missense_Mutation_p.R15W|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Missense_Mutation_p.R15W|CYP1A1_uc002ayq.4_Missense_Mutation_p.R279W|CYP1A1_uc010bjz.1_Missense_Mutation_p.R15W NM_000499 NP_000490 P04798 CP1A1_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA. 279 R -> W (in dbSNP:rs34260157). cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) GTGATGTCCCGGATGTGGCCC 0.502000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 62 26 0 0 1 0 0 PRR23B 389151 broad.mit.edu 37 3 138739086 138739086 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:138739086C>T uc003esy.1 - 0 683 c.418G>A c.(418-420)Gaa>Aaa p.E140K NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN Homo sapiens proline rich 23B (PRR23B), mRNA. 140 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCGCAGAATTCCAGCTCGACG 0.662000 37 5 0 0 1 0 0 AFG3L2 10939 broad.mit.edu 37 18 12356714 12356714 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:12356714G>A uc002kqz.2 - 8 1337 c.1143C>T c.(1141-1143)ttC>ttT p.F381F NM_006796 NP_006787 Q9Y4W6 AFG32_HUMAN Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA. 381 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1) 27 Adenosine triphosphate(DB00171) CCACACCAACGAACATCTCCA 0.542000 68 11 0 0 1 0 0 MYBPHL 343263 broad.mit.edu 37 1 109840099 109840099 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:109840099G>A uc001dxk.1 - 2 425 c.375C>T c.(373-375)ctC>ctT p.L125L MYBPHL_uc010ovh.1_Intron|MYBPHL_uc001dxl.3_Intron NM_001010985 NP_001010985 A2RUH7 MBPHL_HUMAN Homo sapiens myosin binding protein H-like (MYBPHL), mRNA. 125 Ig-like C2-type 1. p.Q124P(1) central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2) 14 all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822) Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225) GCTGCACGCGGAGTTGGTAGC 0.622000 586 36 0 0 1 0 0 ADCY3 109 broad.mit.edu 37 2 25141245 25141245 + Silent SNP G A A rs79278464 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:25141245G>A uc010ykm.2 - 0 811 c.612C>T c.(610-612)gtC>gtT p.V204V ADCY3_uc002rfs.4_Silent_p.V204V NM_004036 NP_004027 O60266 ADCY3_HUMAN Homo sapiens adenylate cyclase 3 (ADCY3), mRNA. 204 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) TGACCCCCAGGACCAACGTGT 0.632000 46 18 0 0 1 0 0 MMP7 4316 broad.mit.edu 37 11 102398512 102398512 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:102398512C>T uc001phb.3 - 1 358 c.311G>A c.(310-312)tGg>tAg p.W104* MMP7_uc009yxd.3_Nonsense_Mutation_p.W104*|MMP7_uc010rus.1_Nonsense_Mutation_p.W104* NM_002423 NP_002414 P09237 MMP7_HUMAN Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA. 104 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) TTTGGAAGTCCATTTTGGGCT 0.413000 55 9 0 0 1 0 0 BAZ1B 9031 broad.mit.edu 37 7 72892254 72892254 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:72892254G>A uc003tyc.3 - 6 1889 c.1537C>T c.(1537-1539)Cgt>Tgt p.R513C NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA. 513 Lys-rich. ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) TCTGGGAGACGAGCTCTATCT 0.438000 59 6 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22154571 22154571 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:22154571C>T uc021urr.1 - 3 3414 c.3265G>A c.(3265-3267)Gaa>Aaa p.E1089K ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TTGCCACATTCTTCACATTTG 0.428000 16 4 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48390375 48390375 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:48390375C>T uc001rqu.3 - 7 746 c.565G>A c.(565-567)Gaa>Aaa p.E189K COL2A1_uc001rqv.3_Missense_Mutation_p.E120K NM_001844 NP_001835 P02458 CO2A1_HUMAN Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA. 189 axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CCAGCCTTTTCATCAAATCCT 0.498000 281 16 0 0 1 0 0 TBR1 10716 broad.mit.edu 37 2 162279982 162279982 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:162279982C>T uc002ubw.1 + 5 1595 c.1293C>T c.(1291-1293)ttC>ttT p.F431F TBR1_uc010foy.2_Silent_p.F144F NM_006593 NP_006584 Q16650 TBR1_HUMAN Homo sapiens T-box, brain, 1 (TBR1), mRNA. 431 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 CCGGCTCTTTCCTGCAGGACC 0.726000 23 8 0 0 1 0 0 SLC2A7 155184 broad.mit.edu 37 1 9063374 9063374 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:9063374C>T uc009vmo.1 - 11 1524 c.1524G>A c.(1522-1524)aaG>aaA p.K508K NM_207420 NP_997303 Q6PXP3 GTR7_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA. 508 integral to membrane|plasma membrane sugar transmembrane transporter activity NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) AGGAAGTTTCCTTGGCAGGAG 0.532000 63 7 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134646861 134646861 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:134646861C>T uc021qbc.1 - 50 7218 c.7117_splice c.e50+1 p.E2373_splice NM_001200049 NP_001186978 Q8IYW2 CJ092_HUMAN Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA. 534 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 GCAGTTCCTACCTGTCTCTTC 0.373000 59 5 0 0 1 0 0 MAPK8IP1 9479 broad.mit.edu 37 11 45925556 45925556 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:45925556G>A uc001nbr.3 + 6 1835 c.1510G>A c.(1510-1512)Gaa>Aaa p.E504K NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA. 504 SH3. vesicle-mediated transport nucleus|perinuclear region of cytoplasm MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) GCCTCGACACGAAGACGAACT 0.602000 80 6 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57087659 57087659 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:57087659G>A uc001njr.3 - 1 934 c.622C>T c.(622-624)Ccc>Tcc p.P208S TNKS1BP1_uc001njs.3_Missense_Mutation_p.P208S|TNKS1BP1_uc009ymd.1_5'UTR NM_033396 NP_203754 Q9C0C2 TB182_HUMAN Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA. 208 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) TCATCCCTGGGAGCAGTGGTC 0.637000 76 5 0 0 1 0 0 SIT1 27240 broad.mit.edu 37 9 35650597 35650597 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:35650597G>A uc003zxe.1 - 1 235 c.138C>T c.(136-138)gtC>gtT p.V46V SIT1_uc022bgl.1_5'UTR NM_014450 NP_055265 Q9Y3P8 SIT1_HUMAN Homo sapiens signaling threshold regulating transmembrane adaptor 1 (SIT1), mRNA. 46 regulation of T cell activation|signal transduction integral to plasma membrane SH2 domain binding|kinase binding endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 9 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CCCCTAAGAGGACCCACAGTC 0.652000 54 10 0 0 1 0 0 ARMC12 221481 broad.mit.edu 37 6 35705835 35705836 + Missense_Mutation DNP GG AT AT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:35705835_35705836GG>AT uc003ola.3 + 1 303_304 c.276_277GG>AT c.(274-279)cgggac>cgATac p.D93Y FKBP5_uc010jvy.2_5'Flank|ARMC12_uc003olb.1_Missense_Mutation_p.D66Y NM_145028 NP_659465 Q5T9G4 CF081_HUMAN Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA. 66 binding GGCACGGGCGGGACTCAGGTGA 0.564000 OREG0017379 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 12 0 0 1 0 0 SLC5A6 8884 broad.mit.edu 37 2 27425702 27425702 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:27425702G>A uc010eyv.1 - 12 1576 c.1254C>T c.(1252-1254)tcC>tcT p.S418S SLC5A6_uc002rjd.3_Silent_p.S418S NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA. 418 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity p.S417F(1) endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) GTCCCATCTGGGAGGAAATAT 0.458000 166 7 0 0 1 0 0 DUSP5 1847 broad.mit.edu 37 10 112266908 112266908 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:112266908C>T uc001kzd.3 + 2 999 c.744C>T c.(742-744)ttC>ttT p.F248F NM_004419 NP_004410 Q16690 DUS5_HUMAN Homo sapiens dual specificity phosphatase 5 (DUSP5), mRNA. 248 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 13 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) CAATAGACTTCATTGGTAGGT 0.502000 68 8 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87170678 87170678 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:87170678G>A uc003uiz.2 - 18 2807 c.2314C>T c.(2314-2316)Ctt>Ttt p.L772F ABCB1_uc011khc.2_Missense_Mutation_p.L708F NM_000927 NP_000918 P08183 MDR1_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA. 772 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTTACCTGAAGGAAAAATGTA 0.299000 14 3 0 0 1 0 0 UPF2 26019 broad.mit.edu 37 10 11971910 11971910 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:11971910G>A uc001ila.3 - 19 4237 c.3763C>T c.(3763-3765)Ccg>Tcg p.P1255S UPF2_uc001ilb.3_Missense_Mutation_p.P1255S|UPF2_uc001ilc.3_Missense_Mutation_p.P1255S NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA. 1255 Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm RNA binding|identical protein binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) GCTCCCTTCGGATGTTGGTAG 0.463000 315 81 0 0 1 0 0 ACAD8 27034 broad.mit.edu 37 11 134129563 134129563 + Missense_Mutation SNP C T T rs17849561 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:134129563C>T uc001qhk.3 + 5 690 c.629C>T c.(628-630)cCa>cTa p.P210L ACAD8_uc009zdc.3_3'UTR|ACAD8_uc010sco.1_Missense_Mutation_p.P112L|ACAD8_uc010scp.1_Non-coding_Transcript|ACAD8_uc010scq.2_Missense_Mutation_p.P133L|ACAD8_uc001qhl.3_Missense_Mutation_p.P83L|ACAD8_uc010scr.1_Missense_Mutation_p.P172L|ACAD8_uc009zde.1_Missense_Mutation_p.P83L NM_014384 NP_055199 Q9UKU7 ACAD8_HUMAN Homo sapiens acyl-CoA dehydrogenase family, member 8 (ACAD8), nuclear gene encoding mitochondrial protein, mRNA. 210 P -> L (in Ref. 4; AAH01964). branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) ACAGGAGGACCAGGCCCCAAG 0.547000 101 7 0 0 1 0 0 PKP4 8502 broad.mit.edu 37 2 159481683 159481683 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:159481683C>T uc002tzv.3 + 6 1157 c.897C>T c.(895-897)ccC>ccT p.P299P PKP4_uc002tzt.1_Silent_p.P151P|PKP4_uc002tzu.3_Silent_p.P299P|PKP4_uc002tzw.3_Silent_p.P299P|PKP4_uc002tzx.3_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Silent_p.P297P|PKP4_uc002uaa.3_Silent_p.P151P NM_003628 NP_003619 Q99569 PKP4_HUMAN Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA. 299 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 CCTCCAATCCCAACGGACCAA 0.622000 HNSCC(62;0.18) 16 4 0 0 1 0 0 MED8 112950 broad.mit.edu 37 1 43854021 43854021 + Missense_Mutation SNP A C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:43854021A>C uc001cje.1 - 1 133 c.85T>G c.(85-87)Ttc>Gtc p.F29V SZT2_uc001cjk.2_5'Flank|MED8_uc001cjg.4_Missense_Mutation_p.F29V|MED8_uc001cjf.4_5'UTR|SZT2_uc001cjh.3_5'Flank|SZT2_uc001cji.1_5'Flank|SZT2_uc009vws.1_5'Flank NM_052877 NP_443109 Q96G25 MED8_HUMAN Homo sapiens mediator complex subunit 8 (MED8), transcript variant 3, mRNA. 29 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 9 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TTGCAAATGAAACTCCCCAGA 0.527000 55 6 0 0 1 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677182 37677182 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:37677182G>A uc002ofq.3 - 4 1509 c.1257C>T c.(1255-1257)ttC>ttT p.F419F ZNF585B_uc002ofr.1_Silent_p.F233F NM_152279 NP_689492 Q52M93 Z585B_HUMAN Homo sapiens zinc finger protein 585B (ZNF585B), mRNA. 419 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCTTCCGGATGAAGGCCAGTC 0.413000 51 5 0 0 1 0 0 EIF2D 1939 broad.mit.edu 37 1 206772821 206772821 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:206772821G>A uc001heh.2 - 9 1407 c.1198C>T c.(1198-1200)Cac>Tac p.H400Y EIF2D_uc009xbw.2_Missense_Mutation_p.H276Y NM_006893 NP_008824 P41214 EIF2D_HUMAN Homo sapiens eukaryotic translation initiation factor 2D (EIF2D), transcript variant 1, mRNA. 400 intracellular protein transport cytoplasm protein binding|receptor activity|translation initiation factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 ACTCACTTGTGGCCAGACTCC 0.532000 67 10 0 0 1 0 0 SMG8 55181 broad.mit.edu 37 17 57290128 57290128 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:57290128C>T uc002ixi.3 + 2 1986 c.1944C>T c.(1942-1944)atC>atT p.I648I NM_018149 NP_060619 Q8ND04 SMG8_HUMAN Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA. 648 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 TGGATCATATCAATTTCCCAG 0.343000 203 22 0 0 1 0 0 TUBA3E 112714 broad.mit.edu 37 2 130951713 130951713 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:130951713G>A uc002tqv.3 - 3 803 c.702C>T c.(700-702)atC>atT p.I234I NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN Homo sapiens tubulin, alpha 3e (TUBA3E), mRNA. 234 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2) 28 Colorectal(110;0.1) TGGAGGACACGATCTGCCCAA 0.557000 102 9 0 0 1 0 0 RIBC2 26150 broad.mit.edu 37 22 45813729 45813729 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:45813729C>T uc011aqs.2 + 3 650 c.441C>T c.(439-441)ttC>ttT p.F147F NM_015653 NP_056468 Q9H4K1 RIBC2_HUMAN Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA. 80 p.D147Y(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1) 10 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) ATTTAAACTTCCATGAGAGGA 0.448000 20 4 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61943027 61943027 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:61943027G>A uc011aau.2 + 12 1690 c.1590G>A c.(1588-1590)agG>agA p.R530R COL20A1_uc011aav.2_Silent_p.R351R NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 530 Fibronectin type-III 3. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) AACCTGGCAGGGACTATGAGG 0.706000 36 4 0 0 1 0 0 RAB8A 4218 broad.mit.edu 37 19 16222790 16222790 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:16222790C>T uc002ndn.4 + 0 301 c.79C>T c.(79-81)Cgc>Tgc p.R27C RAB8A_uc002ndm.1_Missense_Mutation_p.R27C|RAB8A_uc010xpc.2_Missense_Mutation_p.R27C NM_005370 NP_005361 P61006 RAB8A_HUMAN Homo sapiens RAB8A, member RAS oncogene family (RAB8A), mRNA. 27 Golgi vesicle fusion to target membrane|cilium assembly|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane GTP binding|protein binding endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 8 TGTCCTGTTCCGCTTCTCCGA 0.632000 194 44 0 0 1 0 0 CYB5RL 606495 broad.mit.edu 37 1 54661189 54661189 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:54661189G>A uc009vzo.3 - 2 421 c.101C>T c.(100-102)tCa>tTa p.S34L CYB5RL_uc001cww.3_5'UTR|CYB5RL_uc001cwy.4_5'UTR|CYB5RL_uc001cwx.4_Non-coding_Transcript NM_001031672 NP_001026842 Q6IPT4 NB5R5_HUMAN Homo sapiens cytochrome b5 reductase-like (CYB5RL), mRNA. 34 cytochrome-b5 reductase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1) 8 CACACAGGGTGAGCAGCCACT 0.612000 81 6 0 0 1 0 0 TRMT5 57570 broad.mit.edu 37 14 61442775 61442775 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:61442775C>T uc001xff.4 - 3 953 c.862G>A c.(862-864)Gaa>Aaa p.E288K NM_020810 NP_065861 Q32P41 TRMT5_HUMAN Homo sapiens TRM5 tRNA methyltransferase 5 homolog (S. cerevisiae) (TRMT5), mRNA. 288 cytoplasm tRNA (guanine-N1-)-methyltransferase activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1) 11 OV - Ovarian serous cystadenocarcinoma(108;0.0873) CGGCTGTGTTCTGTAGACAGA 0.398000 69 9 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140222821 140222821 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140222821G>A uc003lhs.2 + 0 1915 c.1915G>A c.(1915-1917)Gaa>Aaa p.E639K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.E639K NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 650 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCCTGGACGAAGCGGACTC 0.647000 103 7 0 0 1 0 0 CPA6 57094 broad.mit.edu 37 8 68658271 68658271 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:68658271G>A uc003xxq.4 - 0 350 c.94C>T c.(94-96)Ctt>Ttt p.L32F CPA6_uc003xxr.4_5'UTR|CPA6_uc003xxs.2_Missense_Mutation_p.L32F NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN Homo sapiens carboxypeptidase A6 (CPA6), mRNA. 32 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TTGTTATAAAGGTGGCTGTGC 0.532000 22 4 0 0 1 0 0 HIST1H2AG 8969 broad.mit.edu 37 6 27101100 27101100 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:27101100C>T uc003niw.3 + 0 284 c.250C>T c.(250-252)Ctc>Ttc p.L84F HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.3_5'Flank NM_021064 NP_066408 P0C0S8 H2A1_HUMAN Homo sapiens histone cluster 1, H2ag (HIST1H2AG), mRNA. 84 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 17 CCCGCGTCATCTCCAACTGGC 0.622000 85 8 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37949026 37949026 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:37949026G>A uc002hsu.3 - 3 386 c.324C>T c.(322-324)ttC>ttT p.F108F IKZF3_uc002htd.3_Silent_p.F74F|IKZF3_uc010cwd.3_Intron|IKZF3_uc002hsv.3_Silent_p.F74F|IKZF3_uc010cwe.3_Silent_p.F108F|IKZF3_uc010cwf.3_Intron|IKZF3_uc010cwg.3_Intron|IKZF3_uc002hsw.3_Silent_p.F108F|IKZF3_uc002hsx.3_Silent_p.F108F|IKZF3_uc002hsy.3_Silent_p.F108F|IKZF3_uc002hsz.3_Silent_p.F108F|IKZF3_uc002hta.3_Silent_p.F108F|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Intron|IKZF3_uc002htc.3_5'UTR NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA. 108 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TGCTACTATCGAATGAGACAA 0.408000 35 5 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61568707 61568707 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:61568707C>T uc002jau.2 + 18 2911 c.2877C>T c.(2875-2877)gcC>gcT p.A959A ACE_uc010wpj.2_Silent_p.A385A|ACE_uc010ddv.2_Silent_p.A186A|ACE_uc002jav.2_Silent_p.A385A|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Silent_p.A205A NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 959 Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) TCTGCCACGCCTCGGCCTGGG 0.607000 85 10 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36779857 36779857 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:36779857C>T uc003cgi.2 - 1 785 c.294G>A c.(292-294)ggG>ggA p.G98G NM_033403 NP_208382 Q9C098 DCLK3_HUMAN Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA. 98 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.R97S(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 GCTCCCATTTCCCCCTCCCCC 0.577000 139 18 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834343 125834343 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:125834343G>A uc001uhe.1 + 1 406 c.398G>A c.(397-399)aGa>aAa p.R133K TMEM132B_uc021rgl.1_Missense_Mutation_p.R23K NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 133 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TACTCCAACAGACCCAAAGTG 0.468000 100 7 0 0 1 0 0 ONECUT2 9480 broad.mit.edu 37 18 55104004 55104004 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:55104004C>T uc002lgo.3 + 0 1088 c.1056C>T c.(1054-1056)ccC>ccT p.P352P NM_004852 NP_004843 O95948 ONEC2_HUMAN Homo sapiens one cut homeobox 2 (ONECUT2), mRNA. 352 organ morphogenesis nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) ACAGTATCCCCCAGGCGATCT 0.607000 54 6 0 0 1 0 0 PPP1R14C 81706 broad.mit.edu 37 6 150464463 150464463 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:150464463G>A uc003qnt.3 + 0 276 c.135G>A c.(133-135)gaG>gaA p.E45E NM_030949 NP_112211 Q8TAE6 PP14C_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA. 45 regulation of phosphorylation cytoplasm|membrane endometrium(1)|large_intestine(1)|prostate(1) 3 Ovarian(120;0.0284) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;9.14e-12) CCTCCCGGGAGGACTCGGCGC 0.711000 24 8 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3293274 3293274 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:3293274G>A uc002cun.1 - 9 2253 c.2213C>T c.(2212-2214)tCc>tTc p.S738F MEFV_uc021tbw.1_3'UTR|MEFV_uc021tbx.1_Missense_Mutation_p.S318F|MEFV_uc021tby.1_Missense_Mutation_p.S241F|MEFV_uc021tbz.1_Missense_Mutation_p.S157F|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_3'UTR NM_000243 NP_000234 O15553 MEFV_HUMAN Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. 738 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) ATAGATGTGGGATCTGGCTGT 0.542000 92 4 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6926546 6926546 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:6926546G>A uc002mfw.3 + 15 2194 c.2156G>A c.(2155-2157)gGg>gAg p.G719E EMR1_uc010dvc.3_Missense_Mutation_p.G654E|EMR1_uc010dvb.3_Missense_Mutation_p.G667E|EMR1_uc010xji.2_Missense_Mutation_p.G578E|EMR1_uc010xjj.2_Missense_Mutation_p.G542E NM_001974 NP_001965 Q14246 EMR1_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA. 719 cell adhesion|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) TTTGGTTATGGGCTGCCGATG 0.512000 112 19 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2693715 2693715 + Silent SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:2693715T>A uc009zdu.1 + 15 2584 c.2271T>A c.(2269-2271)gcT>gcA p.A757A CACNA1C_uc001qkc.2_Silent_p.A757A|CACNA1C_uc001qjz.2_Silent_p.A757A|CACNA1C_uc001qkd.2_Silent_p.A757A|CACNA1C_uc001qke.2_Silent_p.A757A|CACNA1C_uc001qkf.2_Silent_p.A757A|CACNA1C_uc009zdw.1_Silent_p.A757A|CACNA1C_uc001qkg.2_Silent_p.A757A|CACNA1C_uc001qkh.2_Silent_p.A757A|CACNA1C_uc001qkl.2_Silent_p.A757A|CACNA1C_uc001qkj.2_Silent_p.A757A|CACNA1C_uc001qkk.2_Silent_p.A757A|CACNA1C_uc001qkn.2_Silent_p.A757A|CACNA1C_uc001qkm.2_Silent_p.A757A|CACNA1C_uc001qko.2_Silent_p.A757A|CACNA1C_uc001qkp.2_Silent_p.A757A|CACNA1C_uc001qkq.2_Silent_p.A757A|CACNA1C_uc001qku.2_Silent_p.A757A|CACNA1C_uc001qkr.2_Silent_p.A757A|CACNA1C_uc001qks.2_Silent_p.A757A|CACNA1C_uc001qkt.2_Silent_p.A757A|CACNA1C_uc009zdv.1_Silent_p.A754A|CACNA1C_uc001qkb.2_Silent_p.A757A|CACNA1C_uc001qka.1_Silent_p.A292A|CACNA1C_uc001qki.1_Silent_p.A493A NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 757 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) ACAACCTGGCTGATGCTGAGA 0.512000 47 4 0 0 1 0 0 GRPR 2925 broad.mit.edu 37 X 16142262 16142262 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:16142262C>T uc004cxj.3 + 0 839 c.186C>T c.(184-186)atC>atT p.I62I NM_005314 NP_005305 P30550 GRPR_HUMAN Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA. 62 cell proliferation integral to plasma membrane bombesin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3) 25 Hepatocellular(33;0.183) TCACTTTGATCAAGATCTTCT 0.493000 OREG0019682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 4 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49937160 49937160 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:49937160G>A uc001ruh.1 + 4 942 c.682G>A c.(682-684)Gat>Aat p.D228N KCNH3_uc010smj.1_Missense_Mutation_p.D168N NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA. 228 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 AGCCACCTGGGATGGCTTCAT 0.617000 40 6 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55540475 55540475 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:55540475T>A uc003xsd.1 + 3 4181 c.4033T>A c.(4033-4035)Tta>Ata p.L1345I RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1345 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CATTGACTTTTTAAACTCCAA 0.383000 41 5 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41749591 41749591 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:41749591C>T uc010ehj.3 + 11 1706 c.1516C>T c.(1516-1518)Cgt>Tgt p.R506C AXL_uc010ehi.1_Missense_Mutation_p.R506C|AXL_uc010ehk.3_Missense_Mutation_p.R497C|TRNA_Pseudo_uc021uux.1_5'Flank NM_021913 NP_068713 P30530 UFO_HUMAN Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA. 506 integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 GTCCTACAGTCGTCGGACCAC 0.562000 104 8 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28420502 28420502 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:28420502T>A uc001iua.1 - 7 838 c.434A>T c.(433-435)aAt>aTt p.N145I MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.N145I|MPP7_uc009xla.2_Missense_Mutation_p.N145I|MPP7_uc010qdv.1_Non-coding_Transcript NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA. 145 PDZ. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TGGTTCTCTATTTTTGACCAG 0.403000 30 6 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42005077 42005077 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:42005077G>A uc011kbh.2 - 14 3685 c.3594C>T c.(3592-3594)gtC>gtT p.V1198V GLI3_uc011kbg.2_Silent_p.V1139V NM_000168 NP_000159 P10071 GLI3_HUMAN Homo sapiens GLI family zinc finger 3 (GLI3), mRNA. 1198 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 GCGGGTGGACGACCATGCCGT 0.667000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 95 10 0 0 1 0 0 BAZ1B 9031 broad.mit.edu 37 7 72903665 72903665 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:72903665C>A uc003tyc.3 - 5 1102 c.750G>T c.(748-750)aaG>aaT p.K250N NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA. 250 Mediates the tyrosine-protein kinase activity. ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) GAACTATCTCCTTATTTGGTG 0.418000 62 4 0.0215528 0.0216996 1 1 0 PCDH10 57575 broad.mit.edu 37 4 134072602 134072602 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:134072602G>A uc003iha.3 + 0 2133 c.1307G>A c.(1306-1308)cGg>cAg p.R436Q BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Missense_Mutation_p.R436Q NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA. 436 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A435A(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GTAGTGGCTCGGGACCGGGGC 0.597000 169 22 0 0 1 0 0 ATP11B 23200 broad.mit.edu 37 3 182584161 182584161 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:182584161C>T uc003flb.3 + 13 1806 c.1549C>T c.(1549-1551)Ctg>Ttg p.L517L ATP11B_uc003flc.3_Silent_p.L101L NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA. 517 ATP biosynthetic process|aminophospholipid transport integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) GCAATCCAACCTGGCACCATC 0.443000 19 3 0 0 1 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55020154 55020154 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:55020154C>T uc002lgn.3 + 0 434 c.77C>T c.(76-78)tCg>tTg p.S26L NM_015879 NP_056963 O43173 SIA8C_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA. 26 N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) CTGATTTTATCGCTCATCAGC 0.597000 40 4 0 0 1 0 0 TEKT1 83659 broad.mit.edu 37 17 6733560 6733560 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:6733560C>T uc002gdt.3 - 1 246 c.136G>A c.(136-138)Gat>Aat p.D46N TEKT1_uc010vth.2_5'UTR NM_053285 NP_444515 Q969V4 TEKT1_HUMAN Homo sapiens tektin 1 (TEKT1), mRNA. 46 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) TCAATTTCATCCACAAGCCTC 0.478000 52 4 0 0 1 0 0 LOC401010 401010 broad.mit.edu 37 2 132201893 132201893 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:132201893C>T uc002tst.2 - 0 575 c.109G>A c.(109-111)Gaa>Aaa p.E37K Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA. TCAGCACTTTCCTGGTCCCCT 0.537000 20 4 0 0 1 0 0 ASL 435 broad.mit.edu 37 7 65551587 65551587 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:65551587C>T uc003tup.3 + 5 697 c.462C>T c.(460-462)ctC>ctT p.L154L ASL_uc011kdu.1_Silent_p.L154L|ASL_uc003tuo.3_Silent_p.L154L|ASL_uc011kdv.1_Silent_p.L154L|ASL_uc003tur.3_Silent_p.L154L|ASL_uc003tuq.3_Silent_p.L154L NM_001024943 NP_001020114 P04424 ARLY_HUMAN Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA. 154 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) GTGATGTTCTCTTCCCGGGGT 0.632000 39 4 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73727994 73727994 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:73727994C>T uc002jpg.3 + 10 1504 c.1317C>T c.(1315-1317)tcC>tcT p.S439S ITGB4_uc002jph.3_Silent_p.S439S|ITGB4_uc010dgo.3_Silent_p.S439S|ITGB4_uc002jpi.4_Silent_p.S439S|ITGB4_uc010dgp.1_Silent_p.S439S|ITGB4_uc002jpj.3_Silent_p.S439S|ITGB4_uc010wsh.1_5'UTR NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 439 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TGAAACCTTCCTTCTCCGACG 0.627000 50 11 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56719165 56719165 + Missense_Mutation SNP C T T rs149179511 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:56719165C>T uc001skx.3 - 8 1810 c.1433G>A c.(1432-1434)cGa>cAa p.R478Q PAN2_uc001skw.3_5'Flank|PAN2_uc001sky.3_Missense_Mutation_p.R478Q|PAN2_uc001skz.3_Missense_Mutation_p.R478Q NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA. 478 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TTCCTCTTCTCGTCCTACTGG 0.507000 96 8 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47563360 47563360 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:47563360G>A uc002leb.2 - 3 603 c.315C>T c.(313-315)atC>atT p.I105I MYO5B_uc021ukb.1_Silent_p.I104I NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 105 Myosin head-like. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity p.G104C(1) NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CAACAAGTACGATACCTGCAA 0.458000 15 3 0 0 1 0 0 WWC1 23286 broad.mit.edu 37 5 167882444 167882444 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:167882444C>T uc003lzu.3 + 18 2835 c.2742C>T c.(2740-2742)tcC>tcT p.S914S WWC1_uc003lzv.3_Silent_p.S914S|WWC1_uc011den.2_Silent_p.S914S|WWC1_uc003lzw.3_Silent_p.S713S|WWC1_uc010jjf.1_Silent_p.S186S NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA. 914 Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GCACCCCGTCCCAGGGGCCAT 0.632000 104 10 0 0 1 0 0 INVS 27130 broad.mit.edu 37 9 103002357 103002357 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:103002357G>A uc004bap.1 + 5 843 c.631G>A c.(631-633)Gag>Aag p.E211K INVS_uc010mta.2_Missense_Mutation_p.E115K|INVS_uc011lve.1_Missense_Mutation_p.E115K|INVS_uc004bao.1_Missense_Mutation_p.E211K|INVS_uc004baq.1_Missense_Mutation_p.E115K|INVS_uc004bar.1_Missense_Mutation_p.E115K|INVS_uc010mtb.1_5'UTR NM_014425 NP_055240 Q9Y283 INVS_HUMAN Homo sapiens inversin (INVS), transcript variant 1, mRNA. 211 Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) TGCTCCAACAGAGTCTTTACT 0.413000 26 6 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42237033 42237033 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:42237033C>T uc003ose.2 - 4 859 c.296G>A c.(295-297)gGa>gAa p.G99E TRERF1_uc011duq.1_Missense_Mutation_p.G99E|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Missense_Mutation_p.G99E NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 99 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GGCCAGGTTTCCACGTAGCTG 0.592000 126 22 0 0 1 0 0 TBXAS1 6916 broad.mit.edu 37 7 139655381 139655381 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:139655381C>T uc011kqv.2 + 7 1039 c.804C>T c.(802-804)atC>atT p.I268I TBXAS1_uc003vvh.3_Silent_p.I222I|TBXAS1_uc010lne.3_Silent_p.I154I|TBXAS1_uc011kqu.2_Silent_p.I173I|TBXAS1_uc003vvi.3_Silent_p.I222I|TBXAS1_uc011kqw.2_Silent_p.I202I|TBXAS1_uc003vvj.3_Silent_p.I222I NM_001166253 NP_001159725 P24557 THAS_HUMAN Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA. 221 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) AATTCTGCATCCCCAGACCTA 0.597000 87 6 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32502582 32502582 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:32502582G>A uc002yow.1 - 25 4466 c.3994C>T c.(3994-3996)Cga>Tga p.R1332* TIAM1_uc011adk.1_Nonsense_Mutation_p.R1332*|TIAM1_uc011adl.1_Nonsense_Mutation_p.R1272* NM_003253 NP_003244 Q13009 TIAM1_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA. 1332 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 ATCATGTGTCGAAATCTGAAG 0.507000 128 11 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152733075 152733075 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152733075G>A uc001fal.1 + 1 1069 c.1011G>A c.(1009-1011)caG>caA p.Q337Q KPRP_uc021ozf.1_Silent_p.Q337Q NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA. 337 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCCCCAGGCAGGTTCCCCCAC 0.632000 49 6 0 0 1 0 0 BHMT2 23743 broad.mit.edu 37 5 78376624 78376624 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:78376624G>A uc003kft.3 + 3 432 c.373G>A c.(373-375)Gaa>Aaa p.E125K BHMT2_uc011cth.2_Intron NM_017614 NP_060084 Q9H2M3 BHMT2_HUMAN Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA. 125 Hcy-binding. methionine biosynthetic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 15 all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36) L-Methionine(DB00134) CCAGAAGGATGAAGCTAGAAT 0.453000 44 4 0 0 1 0 0 SEC14L4 284904 broad.mit.edu 37 22 30888505 30888505 + Missense_Mutation SNP G A A rs145618105 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:30888505G>A uc003aid.2 - 7 720 c.620C>T c.(619-621)tCg>tTg p.S207L SEC14L4_uc011akz.1_Missense_Mutation_p.S207L|SEC14L4_uc003aie.2_Missense_Mutation_p.S192L|SEC14L4_uc003aif.2_Missense_Mutation_p.S153L NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA. 207 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity p.S207L(2) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) ACTCATGAACGACTTGACCAA 0.537000 47 5 0 0 1 0 0 PRDM8 56978 broad.mit.edu 37 4 81123235 81123235 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:81123235G>A uc010ijo.3 + 7 1458 c.619G>A c.(619-621)Ggc>Agc p.G207S PRDM8_uc003hmb.4_Missense_Mutation_p.G207S|PRDM8_uc003hmc.4_Missense_Mutation_p.G207S NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA. 207 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 gggcggcggcggcggtggcaa 0.652000 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 66 6 0 0 1 0 0 METTL2B 55798 broad.mit.edu 37 7 128133876 128133876 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:128133876C>T uc003vnf.3 + 5 725 c.688C>T c.(688-690)Cct>Tct p.P230S METTL2B_uc003vng.3_Missense_Mutation_p.P165S|METTL2B_uc011kop.2_Missense_Mutation_p.P94S NM_018396 NP_060866 Q6P1Q9 MTL2B_HUMAN Homo sapiens methyltransferase like 2B (METTL2B), mRNA. 230 methyltransferase activity p.P230R(1) breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 AGAATATGATCCTTCTCGGTG 0.358000 67 6 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7809887 7809887 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:7809887G>A uc002mht.2 - 4 907 c.840C>T c.(838-840)tcC>tcT p.S280S CD209_uc010xju.1_Silent_p.S119S|CD209_uc010dvp.2_Silent_p.S256S|CD209_uc002mhr.2_Silent_p.S256S|CD209_uc002mhs.2_Silent_p.S210S|CD209_uc002mhu.2_Silent_p.S188S|CD209_uc010dvq.2_Silent_p.S280S|CD209_uc002mhq.2_Silent_p.S280S|CD209_uc002mhv.2_Silent_p.S256S|CD209_uc002mhx.2_Silent_p.S236S|CD209_uc002mhw.2_Silent_p.S144S|CD209_uc010dvr.2_Intron NM_021155 NP_066978 Q9NNX6 CD209_HUMAN Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA. 280 C-type lectin. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 AGGCGGTGATGGAGTCGTGCC 0.587000 80 9 0 0 1 0 0 ACE2 59272 broad.mit.edu 37 X 15618904 15618904 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:15618904G>A uc004cxa.1 - 0 299 c.131C>T c.(130-132)tCa>tTa p.S44L ACE2_uc004cxb.2_Missense_Mutation_p.S44L NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA. 44 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) AGAAGCAAGTGAACTTTGATA 0.413000 36 9 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183439712 183439712 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:183439712C>T uc003fly.2 + 4 520 c.325C>T c.(325-327)Cat>Tat p.H109Y NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN Homo sapiens YEATS domain containing 2 (YEATS2), mRNA. 109 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GGTTTTTAATCATCCTGCTAT 0.348000 83 7 0 0 1 0 0 KRTAP26-1 388818 broad.mit.edu 37 21 31691921 31691921 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:31691921G>A uc002ynw.3 - 0 687 c.433C>T c.(433-435)Ccc>Tcc p.P145S NM_203405 NP_981950 Q6PEX3 KR261_HUMAN Homo sapiens keratin associated protein 26-1 (KRTAP26-1), mRNA. 145 intermediate filament endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 CAGAATTGGGGGCGATAGGCA 0.552000 42 5 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62022884 62022884 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:62022884A>G uc002jds.1 - 18 3633 c.3556T>C c.(3556-3558)Ttc>Ctc p.F1186L NM_000334 NP_000325 P35499 SCN4A_HUMAN Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA. 1186 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) CAGTAGTAGAACTTGCCGGCA 0.547000 315 17 0 0 1 0 0 ASF1B 55723 broad.mit.edu 37 19 14231337 14231337 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:14231337G>A uc002mye.3 - 3 715 c.543C>T c.(541-543)atC>atT p.I181I PRKACA_uc002myc.3_5'Flank NM_018154 NP_060624 Q9NVP2 ASF1B_HUMAN Homo sapiens ASF1 anti-silencing function 1 homolog B (S. cerevisiae) (ASF1B), mRNA. 181 cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 7 CCAAGCCCTTGATAGGAGTGC 0.612000 60 4 0 0 1 0 0 C1orf187 374946 broad.mit.edu 37 1 11772432 11772432 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:11772432G>A uc001asr.1 + 4 933 c.793G>A c.(793-795)Gaa>Aaa p.E265K NM_198545 NP_940947 Q8NBI3 DRAXI_HUMAN Homo sapiens chromosome 1 open reading frame 187 (C1orf187), mRNA. 265 Wnt receptor signaling pathway|axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway extracellular region breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(2) 15 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651) TGATGGTAACGAAACATCACC 0.567000 85 12 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361447 70361447 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:70361447C>T uc003hek.4 - 0 180 c.133G>A c.(133-135)Gaa>Aaa p.E45K UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.E45K NM_021139 NP_066962 P06133 UD2B4_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA. 45 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.E45K(2) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TGGACAAGTTCATCCAGGATT 0.448000 20 4 0 0 1 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111135 7111135 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:7111135G>A uc001mfc.2 + 0 971 c.784G>A c.(784-786)Ggc>Agc p.G262S NM_014469 NP_055284 O75526 HNRGT_HUMAN Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA. 262 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex RNA binding|nucleotide binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CGACCGAGACGGCTACGGAGG 0.667000 25 7 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55333102 55333102 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55333102C>T uc002qhl.4 + 4 801 c.738C>T c.(736-738)tcC>tcT p.S246S KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Silent_p.S246S|KIR3DL2_uc010esf.3_Silent_p.S151S|KIR3DL2_uc021vbo.1_Silent_p.S246S|KIR3DL2_uc002qhk.4_Silent_p.S246S P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA. 246 Ig-like C2-type 3. cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) CCTGTAGCTCCCGGAGCTCCT 0.572000 57 7 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92258027 92258027 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:92258027G>A uc001pdj.4 + 1 3537 c.3520G>A c.(3520-3522)Gat>Aat p.D1174N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 1174 Cadherin 11. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCAGGCTGAAGATCCTGACTC 0.408000 TCGA Ovarian(4;0.039) 203 22 0 0 1 0 0 WDR25 79446 broad.mit.edu 37 14 100934401 100934401 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:100934401C>T uc010avx.3 + 2 959 c.866C>T c.(865-867)tCc>tTc p.S289F WDR25_uc001yhn.3_Missense_Mutation_p.S289F|WDR25_uc010avy.3_Intron|WDR25_uc001yho.3_Missense_Mutation_p.S32F NM_001161476 NP_078791 Q64LD2 WDR25_HUMAN Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA. 289 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) CAGACCTACTCCCTGCACACA 0.632000 140 8 0 0 1 0 0 ANKS3 124401 broad.mit.edu 37 16 4777097 4777097 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:4777097G>A uc002cxj.2 - 3 547 c.252C>T c.(250-252)atC>atT p.I84I ANKS3_uc002cxi.2_Silent_p.I11I|ANKS3_uc021tcj.1_5'UTR|ANKS3_uc021tck.1_Intron|ANKS3_uc002cxk.3_Intron|ANKS3_uc010uxs.2_Silent_p.I11I|ANKS3_uc002cxm.3_Intron NM_133450 NP_597707 Q6ZW76 ANKS3_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA. 84 endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 19 GCAGGTGCACGATTGTGTCGT 0.542000 68 14 0 0 1 0 0 ZNF114 163071 broad.mit.edu 37 19 48789078 48789078 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:48789078G>A uc002pil.1 + 5 694 c.197G>A c.(196-198)aGa>aAa p.R66K ZNF114_uc010elv.1_Missense_Mutation_p.R66K|ZNF114_uc002pim.1_Missense_Mutation_p.R66K|ZNF114_uc002pin.2_Missense_Mutation_p.R32K NM_153608 NP_705836 Q8NC26 ZN114_HUMAN Homo sapiens zinc finger protein 114 (ZNF114), mRNA. 66 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11) 18 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) CTTCCTAAAAGAACATTTCCT 0.443000 67 10 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688486 26688487 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:26688486_26688487CC>TT uc003acb.3 + 1 405_406 c.209_210CC>TT c.(208-210)ccc>cTT p.P70L SEZ6L_uc003acd.3_Missense_Mutation_p.P70L|SEZ6L_uc011akd.2_Missense_Mutation_p.P70L|SEZ6L_uc003ace.3_Missense_Mutation_p.P70L|SEZ6L_uc011akc.2_Missense_Mutation_p.P70L|SEZ6L_uc003acc.3_Missense_Mutation_p.P70L|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 70 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GTAACAGCGCCCCCCAGTTCCT 0.634000 27 7 0 0 1 0 0 EDN3 1908 broad.mit.edu 37 20 57876774 57876774 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:57876774C>T uc002yap.3 + 1 731 c.362C>T c.(361-363)cCc>cTc p.P121L EDN3_uc002yao.1_Missense_Mutation_p.P121L|EDN3_uc002yaq.3_Missense_Mutation_p.P121L|EDN3_uc002yar.3_Missense_Mutation_p.P121L|EDN3_uc002yas.3_Missense_Mutation_p.P121L NM_000114 NP_996917 P14138 EDN3_HUMAN Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA. 121 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity p.P121S(1)|p.P121P(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) ATCAACACTCCCGAGTAAGTC 0.587000 94 4 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 661694 661694 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:661694G>A uc001qii.1 + 13 1270 c.1270_splice c.e13+1 p.G424_splice B4GALNT3_uc001qij.1_Splice_Site_p.A326_splice|B4GALNT3_uc001qik.1_5'Flank NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA. 424 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) GGAGCAGCCAGGTACAGAGTG 0.607000 39 6 0 0 1 0 0 CLGN 1047 broad.mit.edu 37 4 141320084 141320084 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:141320084C>T uc011chi.2 - 8 1023 c.805G>A c.(805-807)Gat>Aat p.D269N CLGN_uc003iii.3_Missense_Mutation_p.D269N NM_001130675 NP_004353 O14967 CLGN_HUMAN Homo sapiens calmegin (CLGN), transcript variant 2, mRNA. 269 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding p.E268Q(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) TCATTGGGATCTTCAATTTCT 0.408000 87 5 0 0 1 0 0 OR4D1 26689 broad.mit.edu 37 17 56232932 56232932 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:56232932T>G uc010wno.2 + 0 418 c.418T>G c.(418-420)Ttg>Gtg p.L140V MSX2P1_uc002ivn.3_5'Flank NM_012374 NP_036506 Q15615 OR4D1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA. 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 GAACACTCAATTGTGTGTGGG 0.542000 40 4 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12735936 12735936 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:12735936G>A uc004cuz.2 + 15 3497 c.2991G>A c.(2989-2991)atG>atA p.M997I FRMPD4_uc011mij.2_Missense_Mutation_p.M989I NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA. 997 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 ACATGGAGATGGAGCCTGAAA 0.532000 33 17 0 0 1 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60351235 60351235 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:60351235C>T uc002izq.2 - 2 192 c.80G>A c.(79-81)cGa>cAa p.R27Q TBC1D3P2_uc010woz.2_Non-coding_Transcript Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA. breast(2)|kidney(1)|lung(2) 5 CAGCCCAGCTCGGTGTCCCTG 0.602000 269 27 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55086314 55086314 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55086314G>A uc010ern.3 + 4 938 c.469G>A c.(469-471)Gaa>Aaa p.E157K LILRA1_uc002qgg.4_Missense_Mutation_p.E157K|LILRA1_uc002qgf.3_Missense_Mutation_p.E157K|LILRA1_uc010yfe.1_Missense_Mutation_p.E157K|LILRA1_uc010yff.1_Missense_Mutation_p.E145K|LILRA1_uc010ero.3_Missense_Mutation_p.E145K|LILRA1_uc010yfg.1_Missense_Mutation_p.E157K O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA. 159 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TCTGTGTAAGGAAGGAGAAGA 0.602000 89 24 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86302301 86302301 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:86302301G>A uc002sqs.3 - 11 1842 c.1463C>T c.(1462-1464)cCt>cTt p.P488L NM_015425 NP_056240 O95602 RPA1_HUMAN Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA. 488 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GTGCACATTAGGGCCGTTGAT 0.572000 20 3 0 0 1 0 0 BPIFB1 92747 broad.mit.edu 37 20 31877752 31877752 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:31877752G>A uc002wyw.1 + 3 480 c.319G>A c.(319-321)Gag>Aag p.E107K BPIFB1_uc010gej.1_Missense_Mutation_p.E107K NM_033197 NP_149974 Q8TDL5 LPLC1_HUMAN Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA. 107 extracellular space lipid binding CAATGACCAGGAGCTGCTAGT 0.552000 47 4 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 13107246 13107246 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:13107246G>A uc002wod.1 + 8 1450 c.1161G>A c.(1159-1161)gtG>gtA p.V387V NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA. 387 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups p.L386L(1) breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) AGGACCTCGTGGATTATTTAC 0.433000 94 6 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70049224 70049224 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:70049224C>T uc001svg.3 - 9 1697 c.1470G>A c.(1468-1470)gtG>gtA p.V490V BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Silent_p.V277V|BEST3_uc010stm.2_Silent_p.V384V NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA. 490 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GGGAAGTTCTCACACTGGACT 0.562000 28 6 0 0 1 0 0 MTERF 7978 broad.mit.edu 37 7 91503562 91503562 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:91503562G>A uc003ulc.1 - 2 622 c.546C>T c.(544-546)ttC>ttT p.F182F MTERF_uc010let.1_Intron|MTERF_uc011khm.1_Silent_p.F162F|MTERF_uc010leu.1_Silent_p.F162F NM_006980 NP_008911 Q99551 MTERF_HUMAN Homo sapiens mitochondrial transcription termination factor (MTERF), nuclear gene encoding mitochondrial protein, mRNA. 182 DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription mitochondrial nucleoid double-stranded DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1) 14 all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176) CTGAGTAGAGGAACTTTATAT 0.378000 25 4 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160901537 160901537 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:160901537G>A uc002ube.2 - 1 453 c.241C>T c.(241-243)Ctc>Ttc p.L81F PLA2R1_uc010zcp.2_Missense_Mutation_p.L81F|PLA2R1_uc002ubf.3_Missense_Mutation_p.L81F NM_007366 NP_031392 Q13018 PLA2R_HUMAN Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA. 81 Ricin B-type lectin. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 ATGTTAAAGAGGCCATGGTTT 0.483000 46 5 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7585957 7585957 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:7585957C>T uc003mxp.1 + 23 8741 c.8462C>T c.(8461-8463)tCg>tTg p.S2821L DSP_uc003mxq.1_Missense_Mutation_p.S2222L|DSP_uc021yle.1_Missense_Mutation_p.S2378L NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2821 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AACATGTCTTCGGCTCCGGGG 0.642000 115 9 0 0 1 0 0 NARG2 79664 broad.mit.edu 37 15 60747314 60747314 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:60747314G>A uc002agp.3 - 7 1066 c.831C>T c.(829-831)caC>caT p.H277H NARG2_uc002ago.3_Silent_p.H140H|NARG2_uc002agq.4_5'Flank|NARG2_uc010bgk.3_Silent_p.H277H|NARG2_uc002agr.1_Silent_p.H277H NM_024611 NP_001018099 Q659A1 NARG2_HUMAN Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA. 277 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 CTATCTGAGGGTGATATCTGG 0.328000 45 4 0 0 1 0 0 KRT36 8689 broad.mit.edu 37 17 39643308 39643308 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39643308C>T uc002hwt.3 - 5 1102 c.1102G>A c.(1102-1104)Gac>Aac p.D368N NM_003771 NP_003762 O76013 KRT36_HUMAN Homo sapiens keratin 36 (KRT36), mRNA. 368 Coil 2.|Rod. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) CGCTCCAGGTCGCAGCGGATC 0.647000 111 6 0 0 1 0 0 CSF1R 1436 broad.mit.edu 37 5 149441075 149441075 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:149441075C>T uc003lrl.3 - 11 2032 c.1837G>A c.(1837-1839)Gtg>Atg p.V613M CSF1R_uc011dcd.2_Missense_Mutation_p.V465M|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.V613M NM_005211 NP_005202 P07333 CSF1R_HUMAN Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA. 613 Protein kinase. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) TTCACAGCCACCTTCAGGACA 0.622000 76 7 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44085016 44085016 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:44085016G>A uc001cjr.3 + 27 5044 c.4704G>A c.(4702-4704)atG>atA p.M1568I PTPRF_uc001cjs.3_Missense_Mutation_p.M1559I|PTPRF_uc001cju.3_Missense_Mutation_p.M957I|PTPRF_uc009vwt.3_Missense_Mutation_p.M1128I|PTPRF_uc001cjv.3_Missense_Mutation_p.M1039I|PTPRF_uc001cjw.3_Missense_Mutation_p.M794I NM_002840 NP_002831 P10586 PTPRF_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA. 1568 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TGGAGCGGATGAAGCACGAGA 0.607000 36 9 0 0 1 0 0 DDX5 1655 broad.mit.edu 37 17 62496325 62496326 + Silent DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:62496325_62496326GG>AA uc010deh.2 - 12 1603_1604 c.1560_1561CC>TT c.(1558-1563)agcctg>agTTtg p.520_521SL>SL DDX5_uc002jek.2_Silent_p.520_521SL>SL|DDX5_uc002jej.2_Silent_p.415_416SL>SL|DDX5_uc010wqa.1_Silent_p.441_442SL>SL NM_004396 NP_004387 P17844 DDX5_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA. 520 cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) CTTTTAAGCAGGCTAGAGTAAC 0.436000 T ETV4 prostate 160 17 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8798182 8798182 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:8798182C>T uc002knr.2 + 9 2471 c.2329C>T c.(2329-2331)Cga>Tga p.R777* SOGA2_uc002knq.2_Nonsense_Mutation_p.R736*|SOGA2_uc002kns.2_Nonsense_Mutation_p.R107* NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA. 1087 CGACAGTGACCGAGGCTGTGG 0.652000 55 9 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14814329 14814329 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:14814329C>T uc003byy.3 + 16 3114 c.2662C>T c.(2662-2664)Ctc>Ttc p.L888F C3orf20_uc003byz.3_Missense_Mutation_p.L766F|C3orf20_uc003bza.3_Missense_Mutation_p.L766F|C3orf20_uc003bzb.1_3'UTR|C3orf20_uc011avj.2_Missense_Mutation_p.L215F NM_032137 NP_001171887 Q8ND61 CC020_HUMAN Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA. 888 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 GCTACATCCTCTCAGCAGGGA 0.602000 41 5 0 0 1 0 0 CYP2B6 1555 broad.mit.edu 37 19 41509910 41509910 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:41509910G>A uc002opr.1 + 1 183 c.176G>A c.(175-177)cGa>cAa p.R59Q CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.R19Q NM_000767 NP_000758 P20813 CP2B6_HUMAN Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA. 59 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) TGGCAGTTCCGAGAGAAATAT 0.507000 36 6 0 0 1 0 0 SRMS 6725 broad.mit.edu 37 20 62178684 62178684 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:62178684G>A uc002yfi.1 - 0 174 c.133C>T c.(133-135)Ccc>Tcc p.P45S NM_080823 NP_543013 Q9H3Y6 SRMS_HUMAN Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA. 45 ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1) 19 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GGCTCGGCGGGGAGCGTGGGC 0.697000 10 3 0 0 1 0 0 CAPN2 824 broad.mit.edu 37 1 223931832 223931832 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:223931832C>T uc001hob.4 + 2 562 c.338C>T c.(337-339)tCc>tTc p.S113F CAPN2_uc010puy.2_Missense_Mutation_p.S35F NM_001748 NP_001139540 P17655 CAN2_HUMAN Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA. 113 Calpain catalytic. proteolysis cytoplasm|plasma membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) GCCATTGCCTCCCTCACCTTG 0.493000 111 7 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149489167 149489167 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:149489167G>A uc010lpk.3 + 35 5403 c.5403G>A c.(5401-5403)caG>caA p.Q1801Q NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 1804 TSP type-1 2. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTTGCCCTCAGGACGGCTGCC 0.627000 80 4 0 0 1 0 0 EPAS1 2034 broad.mit.edu 37 2 46583360 46583360 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:46583360G>A uc002ruv.3 + 2 798 c.288G>A c.(286-288)gaG>gaA p.E96E NM_001430 NP_001421 Q99814 EPAS1_HUMAN Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA. 96 PAS 1. angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) AAGCCTTGGAGGGTTTCATTG 0.522000 70 5 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9154728 9154728 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:9154728G>A uc003jek.2 - 11 2065 c.1353C>T c.(1351-1353)ttC>ttT p.F451F NM_003966 NP_003957 Q13591 SEM5A_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA. 451 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GCCTCTCAGGGAAGAGCTCAA 0.557000 54 9 0 0 1 0 0 TMEM67 91147 broad.mit.edu 37 8 94793189 94793189 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:94793189C>T uc011lgk.2 + 8 1028 c.957C>T c.(955-957)ttC>ttT p.F319F TMEM67_uc010mat.1_Silent_p.F234F|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.4_Silent_p.F238F NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA. 319 ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) CTACAAATTTCAGTTTTAAAG 0.328000 66 7 0 0 1 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208841835 208841835 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:208841835G>A uc002vcl.2 - 2 1576 c.1086C>T c.(1084-1086)atC>atT p.I362I PLEKHM3_uc002vcm.2_Silent_p.I362I NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA. 362 PH 2. intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CTGATTTGAGGATGTTTTGGT 0.478000 56 6 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74278176 74278176 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:74278176G>A uc002jrd.1 - 7 3714 c.3534C>T c.(3532-3534)atC>atT p.I1178I QRICH2_uc010dgw.1_Silent_p.I22I NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN Homo sapiens glutamine rich 2 (QRICH2), mRNA. 1178 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 TGCTCTCAATGATCATCCTGA 0.637000 24 4 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77457104 77457104 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:77457104C>T uc004ajl.1 - 3 546 c.308G>A c.(307-309)gGa>gAa p.G103E TRPM6_uc004ajk.1_Missense_Mutation_p.G98E|TRPM6_uc022bib.1_Missense_Mutation_p.G98E|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.G103E|TRPM6_uc010mpd.1_Missense_Mutation_p.G103E|TRPM6_uc010mpe.1_Missense_Mutation_p.G103E|TRPM6_uc004ajn.1_Missense_Mutation_p.G103E NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 103 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.G103R(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GGTGTGCTCTCCATCTTGGAA 0.403000 43 9 0 0 1 0 0 ESYT2 57488 broad.mit.edu 37 7 158590696 158590696 + Silent SNP G A A rs140317813 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:158590696G>A uc003woc.1 - 2 299 c.60C>T c.(58-60)gcC>gcT p.A20A ESYT2_uc003wob.1_Silent_p.A196A|ESYT2_uc003wod.1_Silent_p.A196A NM_020728 NP_065779 A0FGR8 ESYT2_HUMAN Homo sapiens extended synaptotagmin-like protein 2 (ESYT2), mRNA. 224 integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 CTCCCCGCACGGCTGGTTCTA 0.453000 51 11 0 0 1 0 0 PRLH 51052 broad.mit.edu 37 2 238475779 238475779 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:238475779C>T uc010znl.2 + 1 225 c.225C>T c.(223-225)ttC>ttT p.F75F NM_015893 NP_056977 P81277 PRRP_HUMAN Homo sapiens prolactin releasing hormone (PRLH), mRNA. 75 extracellular region endometrium(1)|large_intestine(1) 2 Lung NSC(271;0.142)|all_lung(227;0.175) Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249) TGACCTGCTTCCCCCTGGAAG 0.672000 40 4 0 0 1 0 0 SATL1 340562 broad.mit.edu 37 X 84362762 84362762 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:84362762C>T uc004een.3 - 0 1213 c.1213G>A c.(1213-1215)Ggc>Agc p.G405S NM_001012980 NP_001012998 Q86VE3 SATL1_HUMAN Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA. 218 N-acetyltransferase. N-acetyltransferase activity p.S404T(1) NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1) 29 TGGCTTGTGCCTGATTGGCTG 0.532000 29 8 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118949539 118949539 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:118949539G>A uc004bjn.3 + 1 903 c.522G>A c.(520-522)ttG>ttA p.L174L PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.2_5'UTR NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 174 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TTTTCTCCTTGAAGACAGACC 0.527000 45 4 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11775034 11775034 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:11775034C>T uc002gne.3 + 51 10241 c.10173C>T c.(10171-10173)ggC>ggT p.G3391G DNAH9_uc010coo.3_Silent_p.G2685G NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 3391 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCTACCTTGGCTTCTTCACAA 0.488000 83 6 0 0 1 0 0 SHISA4 149345 broad.mit.edu 37 1 201860623 201860623 + Silent SNP C T T rs140214802 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:201860623C>T uc001gxa.3 + 3 792 c.474C>T c.(472-474)ttC>ttT p.F158F SHISA4_uc021phk.1_Non-coding_Transcript NM_198149 NP_937792 Q96DD7 SHSA4_HUMAN Homo sapiens shisa homolog 4 (Xenopus laevis) (SHISA4), transcript variant 1, mRNA. 158 Pro-rich. integral to membrane kidney(1)|lung(4) 5 AGCCTGGCTTCATATACCCAC 0.582000 104 9 0 0 1 0 0 SHOX 6473 broad.mit.edu 37 X 595387 595387 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:595387G>A uc004cph.1 + 2 1003 c.312G>A c.(310-312)gtG>gtA p.V104V SHOX_uc004cpi.3_Silent_p.V104V NM_000451 NP_000442 O15266 SHOX_HUMAN Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA. 104 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCGAGGACGTGAAGTCGGAGG 0.622000 50 7 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26508041 26508041 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:26508041T>C uc001isp.2 + 3 859 c.356T>C c.(355-357)cTt>cCt p.L119P GAD2_uc009xkr.3_Missense_Mutation_p.L119P|GAD2_uc001isq.2_Missense_Mutation_p.L119P NM_001134366 NP_001127838 Q05329 DCE2_HUMAN Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA. 119 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) AACATTTTACTTCAGTATGTG 0.383000 61 4 0 0 1 0 0 SOX5 6660 broad.mit.edu 37 12 23687209 23687209 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:23687209G>A uc001rfw.3 - 14 2338 c.2236C>T c.(2236-2238)Cca>Tca p.P746S SOX5_uc001rfx.3_Missense_Mutation_p.P733S|SOX5_uc001rfy.3_Missense_Mutation_p.P625S|SOX5_uc001rfv.3_Missense_Mutation_p.P360S|SOX5_uc010siv.2_Missense_Mutation_p.P733S NM_006940 NP_694534 P35711 SOX5_HUMAN Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA. 746 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 TCTACATCTGGATCATCCTCT 0.433000 99 14 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156811232 156811232 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:156811232T>A uc010pht.2 - 20 3915 c.3616A>T c.(3616-3618)Atg>Ttg p.M1206L NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 1206 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCGCCATCCATGACGAACTTC 0.602000 69 5 0 0 1 0 0 NOP2 4839 broad.mit.edu 37 12 6666365 6666365 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:6666365G>A uc021qtw.1 - 15 2401 c.2221C>T c.(2221-2223)Cat>Tat p.H741Y IFFO1_uc010sfe.2_5'Flank|IFFO1_uc001qpc.2_5'Flank|IFFO1_uc001qpf.2_5'Flank|IFFO1_uc001qpe.2_5'Flank|NOP2_uc009zeq.2_3'UTR|NOP2_uc021qtx.1_Missense_Mutation_p.H741Y NM_001033714 NP_006161 P46087 NOP2_HUMAN Homo sapiens NOP2 nucleolar protein homolog (yeast) (NOP2), transcript variant 2, mRNA. 745 positive regulation of cell proliferation|rRNA processing nucleolus RNA binding|S-adenosylmethionine-dependent methyltransferase activity|protein binding breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 19 GGCTGATGATGGTCCTTAGGT 0.547000 238 26 0 0 1 0 0 SMAP2 64744 broad.mit.edu 37 1 40881029 40881029 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:40881029C>T uc001cfj.3 + 6 1072 c.657C>T c.(655-657)tcC>tcT p.S219S SMAP2_uc010ojh.2_Silent_p.S219S|SMAP2_uc001cfk.3_Silent_p.S189S|SMAP2_uc021oma.1_Silent_p.S214S|SMAP2_uc010oji.2_Silent_p.S139S|SMAP2_uc010ojj.2_Silent_p.S35S NM_022733 NP_001185909 Q8WU79 SMAP2_HUMAN Homo sapiens small ArfGAP2 (SMAP2), transcript variant 1, mRNA. 219 Interaction with clathrin heavy chains (By similarity). regulation of ARF GTPase activity cytoplasm|nucleus ARF GTPase activator activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.04e-17) CTGTTCCATCCCCTTCTTCTT 0.448000 180 7 0 0 1 0 0 UCHL1 7345 broad.mit.edu 37 4 41262675 41262675 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:41262675C>T uc003gvo.3 + 3 282 c.186C>T c.(184-186)ttC>ttT p.F62F UCHL1_uc003gvp.3_5'UTR NM_004181 NP_004172 P09936 UCHL1_HUMAN Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA. 62 cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus|plasma membrane alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2) 8 ATGAGAACTTCAGGAAAAAGC 0.408000 31 5 0 0 1 0 0 IFNE 338376 broad.mit.edu 37 9 21481691 21481691 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:21481691C>T uc003zpg.3 - 0 622 c.3G>A c.(1-3)atG>atA p.M1I MIR31HG_uc003zpe.2_Intron NM_176891 NP_795372 Q86WN2 IFNE_HUMAN Homo sapiens interferon, epsilon (IFNE), mRNA. 1 defense response|response to virus extracellular space cytokine activity|cytokine receptor binding large_intestine(2)|lung(1)|skin(1) 4 GCTTGATAATCATGGTGAAGG 0.403000 21 4 0 0 1 0 0 CHST15 51363 broad.mit.edu 37 10 125805433 125805433 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:125805433G>A uc001lhn.3 - 1 1030 c.296C>T c.(295-297)tCt>tTt p.S99F CHST15_uc001lhm.3_Missense_Mutation_p.S99F|CHST15_uc010que.2_Missense_Mutation_p.S99F|CHST15_uc001lho.3_Missense_Mutation_p.S99F NM_015892 NP_056976 Q7LFX5 CHSTF_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA. 99 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 GTGGGCCCCAGAAAGGATGTA 0.488000 70 15 0 0 1 0 0 MICAL2 9645 broad.mit.edu 37 11 12234920 12234920 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:12234920C>T uc001mjz.3 + 6 1098 c.810C>T c.(808-810)ttC>ttT p.F270F MICAL2_uc010rch.1_Silent_p.F270F|MICAL2_uc001mka.3_Silent_p.F270F|MICAL2_uc010rci.2_Silent_p.F270F|MICAL2_uc001mkb.3_Silent_p.F270F|MICAL2_uc001mkc.3_Silent_p.F270F|MICAL2_uc001mkd.3_Silent_p.F99F|MICAL2_uc001mke.3_5'Flank NM_014632 NP_055447 O94851 MICA2_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA. 270 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) CTTTCATCTTCAATCAGAAAT 0.468000 101 8 0 0 1 0 0 SLPI 6590 broad.mit.edu 37 20 43882257 43882257 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:43882257C>A uc002xnm.1 - 1 225 c.203G>T c.(202-204)tGt>tTt p.C68F NM_003064 NP_003055 P03973 SLPI_HUMAN Homo sapiens secretory leukocyte peptidase inhibitor (SLPI), mRNA. 68 Trypsin inhibitory domain.|WAP 1. extracellular region serine-type endopeptidase inhibitor activity lung(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) TTTGATGCCACAAGTGTCAGG 0.527000 23 3 0.115264 0.115915 1 1 0 ANO2 57101 broad.mit.edu 37 12 5672726 5672726 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:5672726C>T uc001qnm.2 - 25 2808 c.2736G>A c.(2734-2736)gtG>gtA p.V912V NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN Homo sapiens anoctamin 2 (ANO2), mRNA. 917 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TCAGGAACATCACGAGGTTCT 0.557000 79 8 0 0 1 0 0 SEC31B 25956 broad.mit.edu 37 10 102249077 102249077 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:102249077G>A uc001krc.1 - 22 3205 c.3103C>T c.(3103-3105)Ccc>Tcc p.P1035S SEC31B_uc010qpo.1_Missense_Mutation_p.P1034S|SEC31B_uc001krd.1_Missense_Mutation_p.P572S|SEC31B_uc001krf.1_Missense_Mutation_p.P467S|SEC31B_uc001kre.1_Missense_Mutation_p.P467S NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA. 1035 Pro-rich. protein transport|vesicle-mediated transport ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane p.P1035P(2) NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GGCTGTGAGGGAAGAATCCCT 0.542000 44 6 0 0 1 0 0 SARS 6301 broad.mit.edu 37 1 109773609 109773609 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:109773609C>T uc001dwu.2 + 4 657 c.557C>T c.(556-558)gCc>gTc p.A186V NM_006513 NP_006504 P49591 SYSC_HUMAN Homo sapiens seryl-tRNA synthetase (SARS), transcript variant 1, mRNA. 186 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|RNA binding|protein binding|serine-tRNA ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) GAAAAGGGGGCCGTGGTGGCT 0.433000 331 96 0 0 1 0 0 F9 2158 broad.mit.edu 37 X 138633334 138633334 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:138633334G>A uc004fas.1 + 5 663 c.634G>A c.(634-636)Gat>Aat p.D212N F9_uc004fat.1_Missense_Mutation_p.D174N NM_000133 NP_000124 P00740 FA9_HUMAN Homo sapiens coagulation factor IX (F9), mRNA. 212 blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) AACCATTTTGGATAACATCAC 0.418000 22 6 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81969923 81969923 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:81969923G>A uc002fgt.3 + 26 3170 c.2992G>A c.(2992-2994)Gac>Aac p.D998N NM_002661 NP_002652 P16885 PLCG2_HUMAN Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA. 998 PI-PLC Y-box. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 TTCAAACTACGACCCCTTCCG 0.557000 53 6 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142161840 142161840 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:142161840C>T uc003yvy.3 + 6 1016 c.738C>T c.(736-738)ttC>ttT p.F246F DENND3_uc010mep.3_Silent_p.F259F NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 246 DENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) AGCACCCCTTCGTGCCCATCC 0.582000 101 22 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32026058 32026058 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:32026058G>A uc003nzl.2 - 21 7804 c.7602C>T c.(7600-7602)tcC>tcT p.S2534S NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 2594 Fibronectin type-III 17. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCGAGTCAGGGGAGGATCCTG 0.677000 323 44 0 0 1 0 0 ODZ4 26011 broad.mit.edu 37 11 78380476 78380476 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:78380476C>T uc001ozl.4 - 31 7377 c.6914G>A c.(6913-6915)aGc>aAc p.S2305N ODZ4_uc001ozk.4_Missense_Mutation_p.S530N NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 2305 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 GTGGCTGTGGCTGCTCTTGCT 0.607000 89 9 0 0 1 0 0 CUEDC1 404093 broad.mit.edu 37 17 55956990 55956990 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:55956990G>A uc002ivd.1 - 2 1165 c.446C>T c.(445-447)cCc>cTc p.P149L CUEDC1_uc002ive.1_Missense_Mutation_p.P149L NM_017949 NP_060419 Q9NWM3 CUED1_HUMAN Homo sapiens CUE domain containing 1 (CUEDC1), mRNA. 149 Pro-rich. endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 CGGAGTCGGGGGAGCCAGAGG 0.597000 86 19 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81665026 81665026 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:81665026C>T uc021ssk.1 - 1 142 c.142G>A c.(142-144)Gaa>Aaa p.E48K TMC3_uc021ssj.1_Missense_Mutation_p.E48K|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.E48K NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN Homo sapiens transmembrane channel-like 3 (TMC3), mRNA. 48 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 AAGATTTGTTCCGGATCATTG 0.448000 29 4 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1261064 1261064 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:1261064T>C uc001lta.3 + 27 3678 c.3619T>C c.(3619-3621)Ttc>Ctc p.F1207L NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 1207 Cys-rich. Missing (in Ref. 2; AAC67545). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCAGCCCTTCTTCAATGAGGA 0.612000 17 3 0 0 1 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45484391 45484391 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:45484391C>T uc001cnd.2 - 13 3521 c.3293G>A c.(3292-3294)gGa>gAa p.G1098E NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA. 1098 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) CATGAGCTTTCCAGAGCTTCG 0.552000 OREG0013450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 8 0 0 1 0 0 ZNF615 284370 broad.mit.edu 37 19 52497791 52497791 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:52497791G>A uc002pyf.2 - 6 888 c.571C>T c.(571-573)Cct>Tct p.P191S AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Missense_Mutation_p.P180S|ZNF615_uc002pyh.2_Missense_Mutation_p.P191S|ZNF615_uc010epi.2_Missense_Mutation_p.P187S|ZNF615_uc002pyg.2_Missense_Mutation_p.P72S|ZNF615_uc010ydg.2_Missense_Mutation_p.P185S NM_001199324 NP_001186253 Q8N8J6 ZN615_HUMAN Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA. 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GCAATTGCAGGAAACTTCATT 0.378000 53 5 0 0 1 0 0 KIAA1958 158405 broad.mit.edu 37 9 115421564 115421564 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:115421564G>A uc011lwx.1 + 4 1625 c.1450G>A c.(1450-1452)Gag>Aag p.E484K KIAA1958_uc004bgf.1_Missense_Mutation_p.E456K NM_133465 NP_597722 Q8N8K9 K1958_HUMAN Homo sapiens KIAA1958 (KIAA1958), mRNA. 456 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 GAAGTTGAACGAGCTGCTCGA 0.547000 59 7 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50531867 50531867 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:50531867C>T uc021pqb.1 + 0 1277 c.1277C>T c.(1276-1278)gCt>gTt p.A426V C10orf71_uc021pqa.1_Missense_Mutation_p.A425V|C10orf71_uc021pqc.1_Missense_Mutation_p.A426V NM_001135196 NP_001128668 Q711Q0 CJ071_HUMAN Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA. 426 endometrium(1) 1 GAAAACAATGCTCTTGACCTG 0.463000 76 8 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1807476 1807476 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:1807476G>A uc003gdr.3 + 13 1902 c.1646_splice c.e13-1 p.G549_splice FGFR3_uc003gdu.2_Splice_Site_p.G551_splice|FGFR3_uc003gds.3_Splice_Site_p.G437_splice|FGFR3_uc003gdq.3_Splice_Site_p.G550_splice NM_000142 NP_000133 P22607 FGFR3_HUMAN Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA. 549 Protein kinase. JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CGTGTCCCCAGGGCCCCTGTA 0.736000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 53 4 0 0 1 0 0 SUN1 23353 broad.mit.edu 37 7 883119 883119 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:883119C>T uc021zym.1 + 4 640 c.620C>T c.(619-621)cCc>cTc p.P207L SUN1_uc021zyl.1_Missense_Mutation_p.P207L|SUN1_uc010ksa.1_Missense_Mutation_p.P228L|SUN1_uc003sje.1_Missense_Mutation_p.P207L|SUN1_uc011jvq.2_Intron|SUN1_uc003sjf.3_Missense_Mutation_p.P157L|SUN1_uc003sjg.3_Missense_Mutation_p.P18L NM_001130965 NP_001124437 O94901 SUN1_HUMAN Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA. 207 cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane SUN-KASH complex|integral to membrane|nuclear inner membrane protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCCCCGGGCCCGTGTCGAGA 0.547000 323 16 0 0 1 0 0 OTUD3 23252 broad.mit.edu 37 1 20216943 20216943 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:20216943G>A uc001bcs.4 + 1 406 c.287G>A c.(286-288)aGa>aAa p.R96K NM_015207 NP_056022 Q5T2D3 OTUD3_HUMAN Homo sapiens OTU domain containing 3 (OTUD3), mRNA. 96 OTU. breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1) 9 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CTCAAGCACAGACAGGAGACA 0.438000 57 5 0 0 1 0 0 TBX19 9095 broad.mit.edu 37 1 168260458 168260458 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:168260458C>T uc001gfl.3 + 1 315 c.264C>T c.(262-264)tcC>tcT p.S88S TBX19_uc001gfj.4_Silent_p.S19S NM_005149 NP_005140 O60806 TBX19_HUMAN Homo sapiens T-box 19 (TBX19), mRNA. 88 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) CCATGTACTCCCTCCTGCTGG 0.557000 94 12 0 0 1 0 0 SAP130 79595 broad.mit.edu 37 2 128753985 128753985 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:128753985G>A uc010fmd.2 - 10 1504 c.1372C>T c.(1372-1374)Ccc>Tcc p.P458S SAP130_uc002tpn.2_Missense_Mutation_p.P219S|SAP130_uc002tpp.2_Missense_Mutation_p.P458S|SAP130_uc002tpq.1_Missense_Mutation_p.P431S NM_001145928 NP_001139400 Q9H0E3 SP130_HUMAN Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA. 458 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) CCGGAGATGGGAATCAGGCTA 0.562000 45 8 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215901416 215901416 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:215901416C>T uc001hku.1 - 60 12409 c.12022G>A c.(12022-12024)Gat>Aat p.D4008N NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 4008 Fibronectin type-III 25. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.D4007N(1)|p.D4007D(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AATGTAGGATCGTCGGGTCTC 0.453000 HNSCC(13;0.011) 76 7 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 79082546 79082546 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:79082546C>T uc003ugx.3 - 0 345 c.91G>A c.(91-93)Gaa>Aaa p.E31K MAGI2_uc003ugy.3_Missense_Mutation_p.E31K|MAGI2-AS3_uc022agq.1_Intron|MAGI2-AS3_uc022agr.1_Intron|MAGI2-AS3_uc010lea.2_5'Flank|MAGI2-AS3_uc022ags.1_5'Flank NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA. 31 PDZ 1. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CCCTTCAGTTCAAAGCCCAGC 0.577000 131 26 0 0 1 0 0 HCK 3055 broad.mit.edu 37 20 30674595 30674595 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:30674595G>A uc002wxh.3 + 8 1237 c.1000G>A c.(1000-1002)Gag>Aag p.E334K HCK_uc010gdy.3_Missense_Mutation_p.E314K|HCK_uc021wbv.1_Missense_Mutation_p.E313K|HCK_uc002wxi.3_Missense_Mutation_p.E312K NM_001172133 NP_001165604 P08631 HCK_HUMAN Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA. 334 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CATCATCACGGAGTTCATGGC 0.577000 53 8 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129868693 129868693 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:129868693C>T uc009yat.3 + 14 1722 c.1305C>T c.(1303-1305)atC>atT p.I435I PTPRE_uc001lkb.3_Silent_p.I424I|PTPRE_uc009yau.2_Silent_p.I424I|PTPRE_uc001lkd.3_Silent_p.I366I|PTPRE_uc010quq.1_Silent_p.I325I NM_006504 NP_006495 P23469 PTPRE_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA. 424 Tyrosine-protein phosphatase 2. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) TCGACAAGATCGGGCTGGAGG 0.567000 30 4 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149502585 149502585 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:149502585C>T uc010lpk.3 + 56 8389 c.8389C>T c.(8389-8391)Cgt>Tgt p.R2797C NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 2800 TSP type-1 7. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGGCGCAGTCGTTCCCGACT 0.672000 50 10 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123903191 123903191 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:123903191C>T uc001lfv.3 + 6 6164 c.5804C>T c.(5803-5805)tCc>tTc p.S1935F TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Intron|TACC2_uc010qtv.2_Intron|TACC2_uc001lfx.3_Intron|TACC2_uc001lfy.3_Intron NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 1935 microtubule organizing center|nucleus nuclear hormone receptor binding p.P1934A(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TCCACTCCCTCCTGCCCAGAT 0.642000 42 4 0 0 1 0 0 FLJ31813 326332 broad.mit.edu 37 10 51821282 51821282 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:51821282G>A uc001jiz.1 - 1 c.1353C>T Homo sapiens FAM21B pseudogene (FLJ31813), non-coding RNA. CCACTGAACAGGCCACCTCCA 0.547000 134 20 0 0 1 0 0 DMC1 11144 broad.mit.edu 37 22 38948707 38948707 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:38948707G>A uc003avz.1 - 6 560 c.385C>T c.(385-387)Cgt>Tgt p.R129C DMC1_uc011anv.1_Missense_Mutation_p.R129C|DMC1_uc003awa.1_Missense_Mutation_p.R129C NM_007068 NP_008999 Q14565 DMC1_HUMAN Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA. 129 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 Melanoma(58;0.0286) TTTCCAGTACGAAATTCTGTG 0.274000 Homologous recombination 52 8 0 0 1 0 0 SIX2 10736 broad.mit.edu 37 2 45235791 45235791 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:45235791C>T uc002ruo.3 - 0 752 c.459G>A c.(457-459)gaG>gaA p.E153E NM_016932 NP_058628 Q9NPC8 SIX2_HUMAN Homo sapiens SIX homeobox 2 (SIX2), mRNA. 153 nucleus sequence-specific DNA binding transcription factor activity endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GCTCACGCTTCTCGCGGGGTG 0.657000 67 37 0 0 1 0 0 TLR1 7096 broad.mit.edu 37 4 38798936 38798936 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:38798936G>A uc003gtl.3 - 3 1791 c.1517C>T c.(1516-1518)tCg>tTg p.S506L TLR1_uc021xnn.1_Missense_Mutation_p.S506L NM_003263 NP_003254 Q15399 TLR1_HUMAN Homo sapiens toll-like receptor 1 (TLR1), mRNA. 506 cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 GAAATCAGCCGATGGGTGGGA 0.418000 69 10 0 0 1 0 0 SNAPC4 6621 broad.mit.edu 37 9 139283019 139283019 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:139283019G>A uc004chh.3 - 9 1009 c.1000C>T c.(1000-1002)Ctg>Ttg p.L334L NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA. 334 HTH myb-type 1. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) AATTTCTGCAGGCACTGGAAG 0.592000 53 12 0 0 1 0 0 LOC729862 729862 broad.mit.edu 37 5 28927311 28927311 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:28927311C>T uc003jgz.1 + 0 c.335C>T Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA. AGCTATGATTCTGATGAAGGT 0.413000 48 4 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 8976448 8976448 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:8976448G>A uc001quz.4 + 2 477 c.379G>A c.(379-381)Gac>Aac p.D127N NM_144670 NP_653271 B3KVV6 B3KVV6_HUMAN Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA. 0 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TGTACAGACTGACAAACCTCT 0.507000 84 7 0 0 1 0 0 ATP8B1 5205 broad.mit.edu 37 18 55373778 55373778 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:55373778C>T uc002lgw.3 - 2 343 c.223G>A c.(223-225)Gaa>Aaa p.E75K LOC100505549_uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA. 75 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) TGAGGTTGTTCGTGGTACTTG 0.328000 21 4 0 0 1 0 0 ZNF79 7633 broad.mit.edu 37 9 130206774 130206774 + Silent SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:130206774C>A uc004bqw.4 + 4 1209 c.795C>A c.(793-795)acC>acA p.T265T ZNF79_uc011maf.2_Silent_p.T241T|ZNF79_uc011mag.2_Silent_p.T241T NM_007135 NP_009066 Q15937 ZNF79_HUMAN Homo sapiens zinc finger protein 79 (ZNF79), mRNA. 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 CCAACCTCACCAAACACCAGC 0.517000 68 4 1 1 1 1 0 CYP4F11 57834 broad.mit.edu 37 19 16045048 16045048 + Silent SNP C T T rs140733161 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:16045048C>T uc002nbu.2 - 1 207 c.171G>A c.(169-171)caG>caA p.Q57Q CYP4F11_uc010eab.1_Silent_p.Q57Q|CYP4F11_uc002nbt.2_Silent_p.Q57Q NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 57 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 AAAACCAGTTCTGTTTCGGGG 0.612000 53 4 0 0 1 0 0 WWP1 11059 broad.mit.edu 37 8 87410599 87410599 + Silent SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:87410599T>A uc003ydt.3 + 5 643 c.363T>A c.(361-363)ctT>ctA p.L121L WWP1_uc010mai.3_5'UTR NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA. 121 central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 AATTAAAACTTTCCTTGGAAA 0.328000 34 4 0 0 1 0 0 POLR3D 661 broad.mit.edu 37 8 22105496 22105496 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:22105496C>T uc003xbl.3 + 3 419 c.336C>T c.(334-336)ggC>ggT p.G112G MIR320A_uc011kzd.1_5'Flank|POLR3D_uc003xbm.3_Silent_p.G112G|POLR3D_uc011kze.2_Non-coding_Transcript NM_001722 NP_001713 P05423 RPC4_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA. 112 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity p.G112C(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 13 Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) TTGAGCAGGGCCCAGCTGAAA 0.522000 40 7 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56307582 56307582 + Missense_Mutation SNP C T T rs116279591 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:56307582C>T uc010ygf.2 - 7 2917 c.2206G>A c.(2206-2208)Gaa>Aaa p.E736K NLRP11_uc002qlz.3_Missense_Mutation_p.E583K|NLRP11_uc002qmb.3_Missense_Mutation_p.E637K|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 736 ATP binding p.C735C(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) GCGATTTCTTCACATTCGCTG 0.463000 60 9 0 0 1 0 0 ADORA3 140 broad.mit.edu 37 1 112045866 112045866 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:112045866G>A uc001ebh.4 - 0 878 c.111C>T c.(109-111)gtC>gtT p.V37V ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Silent_p.V37V NM_000677 NP_000668 P33765 AA3R_HUMAN Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA. 37 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) GGTTCAGCTTGACCACGCAGA 0.522000 26 7 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78686688 78686688 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:78686688A>T uc004akc.2 + 6 1306 c.768A>T c.(766-768)aaA>aaT p.K256N PCSK5_uc004ajy.2_Missense_Mutation_p.K256N|PCSK5_uc004ajz.3_Missense_Mutation_p.K256N|PCSK5_uc004aka.3_Non-coding_Transcript NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 256 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TTGAAGCAAAATCAGTTAGCT 0.557000 96 25 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26294330 26294330 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:26294330G>A uc003abz.1 + 28 4975 c.4725G>A c.(4723-4725)aaG>aaA p.K1575K MYO18B_uc003aca.1_Silent_p.K1456K|MYO18B_uc010guy.1_Silent_p.K1457K|MYO18B_uc010guz.1_Silent_p.K1455K|MYO18B_uc011aka.1_Silent_p.K729K|MYO18B_uc011akb.1_Silent_p.K1088K NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 1575 Tail. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 ACCAACTGAAGAGGAAGTGCC 0.493000 60 6 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23523961 23523961 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:23523961C>T uc002zww.3 + 0 1410 c.814C>T c.(814-816)Ccg>Tcg p.P272S BCR_uc002zwx.3_Missense_Mutation_p.P272S NM_004327 NP_004318 P11274 BCR_HUMAN Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA. 272 Binding to ABL SH2-domain.|Kinase. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 GCCCCCTTGGCCGCCCCTGGA 0.667000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 31 10 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129846083 129846083 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:129846083G>A uc009yat.3 + 5 715 c.298G>A c.(298-300)Gga>Aga p.G100R PTPRE_uc001lkb.3_Missense_Mutation_p.G89R|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Missense_Mutation_p.G89R|PTPRE_uc001lkc.1_Non-coding_Transcript|PTPRE_uc001lkd.3_Missense_Mutation_p.G31R|PTPRE_uc010quq.1_5'Flank NM_006504 NP_006495 P23469 PTPRE_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA. 89 negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity p.G89R(2)|p.G31R(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) GATGCCCAACGGAATCTTGGA 0.507000 50 5 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238285469 238285469 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:238285469G>A uc002vwl.2 - 6 3301 c.3016C>T c.(3016-3018)Cat>Tat p.H1006Y COL6A3_uc002vwo.2_Missense_Mutation_p.H800Y|COL6A3_uc010znj.1_Missense_Mutation_p.H399Y|COL6A3_uc002vwq.3_Missense_Mutation_p.H800Y|COL6A3_uc002vwr.3_Missense_Mutation_p.H599Y|COL6A3_uc010znk.1_Missense_Mutation_p.H806Y NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 1006 Nonhelical region.|VWFA 5. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ATCTGTGGATGAAGATCTCCA 0.493000 251 26 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152192079 152192079 + Missense_Mutation SNP C T T rs141565920 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152192079C>T uc001ezt.1 - 2 2102 c.2026G>A c.(2026-2028)Ggc>Agc p.G676S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 676 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCATGTTGGCCGTAGCTGGAA 0.587000 115 12 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55086318 55086318 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55086318G>A uc010ern.3 + 4 942 c.473G>A c.(472-474)gGa>gAa p.G158E LILRA1_uc002qgg.4_Missense_Mutation_p.G158E|LILRA1_uc002qgf.3_Missense_Mutation_p.G158E|LILRA1_uc010yfe.1_Missense_Mutation_p.G158E|LILRA1_uc010yff.1_Missense_Mutation_p.G146E|LILRA1_uc010ero.3_Missense_Mutation_p.G146E|LILRA1_uc010yfg.1_Missense_Mutation_p.G158E O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA. 160 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TGTAAGGAAGGAGAAGATGAA 0.602000 105 7 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118558687 118558687 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:118558687G>A uc001ehk.2 - 28 4256 c.4188C>T c.(4186-4188)acC>acT p.T1396T NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 1396 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTTCAGGTGTGGTTGTAAACC 0.483000 10 7 0 0 1 0 0 APOH 350 broad.mit.edu 37 17 64210749 64210749 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:64210749C>T uc002jfn.4 - 6 863 c.804G>A c.(802-804)gtG>gtA p.V268V NM_000042 NP_000033 P02749 APOH_HUMAN Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA. 268 Sushi-like. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) TGGCTTTTTTCACAGGTACTT 0.358000 61 13 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34150303 34150303 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:34150303C>T uc004ddg.3 - 0 145 c.93G>A c.(91-93)gcG>gcA p.A31A NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 31 p.F30F(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GCTTGCACTTCGCGAAGCACT 0.617000 24 10 0 0 1 0 0 ERI1 90459 broad.mit.edu 37 8 8865530 8865530 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:8865530C>T uc003wsk.2 + 1 419 c.159C>T c.(157-159)ttC>ttT p.F53F NM_153332 NP_699163 Q8IV48 ERI1_HUMAN Homo sapiens exoribonuclease 1 (ERI1), mRNA. 53 gene silencing by RNA|rRNA 3'-end processing cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus 3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|rRNA binding|ribosome binding NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 Adenosine monophosphate(DB00131) GATCCAAGTTCATTACCTCCA 0.348000 69 4 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57872921 57872921 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:57872921G>A uc001sod.3 - 4 675 c.482C>T c.(481-483)tCc>tTc p.S161F ARHGAP9_uc001snz.3_5'Flank|ARHGAP9_uc001soa.3_5'Flank|ARHGAP9_uc001sob.3_Missense_Mutation_p.S90F|ARHGAP9_uc001soc.3_Missense_Mutation_p.S90F|ARHGAP9_uc001soe.1_Missense_Mutation_p.S169F|ARHGAP9_uc010sro.1_Missense_Mutation_p.S90F NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA. 90 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding p.S161S(1) endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) TGGACTCTGGGAAGGGATGGA 0.567000 106 10 0 0 1 0 0 SLC6A2 6530 broad.mit.edu 37 16 55719148 55719148 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:55719148C>T uc021tio.1 + 3 789 c.738C>T c.(736-738)atC>atT p.I246I SLC6A2_uc002eif.3_Silent_p.I246I|SLC6A2_uc002eig.3_Silent_p.I246I|SLC6A2_uc002eii.3_Silent_p.I141I|SLC6A2_uc002eij.3_Silent_p.I5I NM_001172504 NP_001165975 P23975 SC6A2_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA. 246 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) TCGTCGTCATCGTCTTGTATT 0.527000 70 6 0 0 1 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139476 142139476 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:142139476G>A uc003vyt.3 - 1 194 c.149C>T c.(148-150)tCc>tTc p.S50F TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_Intron SubName: Full=V_segment translation product; Flags: Fragment; CCAATAAAGGGATACATGACC 0.517000 35 12 0 0 1 0 0 KLF17 128209 broad.mit.edu 37 1 44595425 44595425 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:44595425C>T uc001clp.3 + 1 540 c.482C>T c.(481-483)tCg>tTg p.S161L KLF17_uc009vxf.1_Missense_Mutation_p.S124L NM_173484 NP_775755 Q5JT82 KLF17_HUMAN Homo sapiens Kruppel-like factor 17 (KLF17), mRNA. 161 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) CTGCCAGTCTCGGCTTCCACT 0.577000 36 6 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45288223 45288223 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:45288223G>A uc010olf.2 - 21 3488 c.3476C>T c.(3475-3477)tCc>tTc p.S1159F PTCH2_uc021omv.1_Intron|PTCH2_uc010olg.2_Missense_Mutation_p.S857F NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA. 1159 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CACGGTCATGGAGGTAGTCAC 0.647000 Basal Cell Nevus syndrome 93 20 0 0 1 0 0 TMPRSS4 56649 broad.mit.edu 37 11 117973909 117973909 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:117973909C>T uc021qrd.1 + 3 542 c.251C>T c.(250-252)cCc>cTc p.P84L TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Missense_Mutation_p.P84L|TMPRSS4_uc010rxo.2_Missense_Mutation_p.P82L|TMPRSS4_uc010rxs.2_Missense_Mutation_p.P44L|TMPRSS4_uc010rxq.2_5'UTR|TMPRSS4_uc010rxr.2_Missense_Mutation_p.P59L|TMPRSS4_uc010rxt.2_Missense_Mutation_p.P59L NM_019894 NP_063947 Q9NRS4 TMPS4_HUMAN Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA. 84 LDL-receptor class A. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) CTGGACTGTCCCTTGGGGGAG 0.587000 145 14 0 0 1 0 0 AGFG1 3267 broad.mit.edu 37 2 228419176 228419176 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:228419176C>T uc002vpc.2 + 12 1904 c.1654C>T c.(1654-1656)Cca>Tca p.P552S AGFG1_uc002vpd.2_Missense_Mutation_p.P574S|AGFG1_uc002vpe.2_Missense_Mutation_p.P550S|AGFG1_uc002vpf.2_Missense_Mutation_p.P512S NM_004504 NP_004495 P52594 AGFG1_HUMAN Homo sapiens ArfGAP with FG repeats 1 (AGFG1), transcript variant 2, mRNA. 552 cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis Golgi apparatus|cytoplasmic membrane-bounded vesicle|nuclear pore ARF GTPase activator activity|DNA binding|RNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1) 18 AGGACAATTTCCAACAGGAAG 0.343000 29 5 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82545811 82545811 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:82545811G>A uc003uhx.2 - 6 11780 c.11491C>T c.(11491-11493)Cgt>Tgt p.R3831C PCLO_uc003uhv.2_Missense_Mutation_p.R3831C|PCLO_uc010lec.3_Missense_Mutation_p.R796C NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3762 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R3831C(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATGTAATCACGATCCTCAGCT 0.473000 7 5 0 0 1 0 0 CLRN2 645104 broad.mit.edu 37 4 17528535 17528535 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:17528535C>T uc003gpg.1 + 2 631 c.529C>T c.(529-531)Cag>Tag p.Q177* NM_001079827 NP_001073296 A0PK11 CLRN2_HUMAN Homo sapiens clarin 2 (CLRN2), mRNA. 177 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1) 15 GAAGCTCTTCCAGTTTGTGGT 0.557000 53 4 0 0 1 0 0 NTN4 59277 broad.mit.edu 37 12 96077343 96077343 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:96077343C>T uc001tei.3 - 5 1774 c.1325G>A c.(1324-1326)gGa>gAa p.G442E NTN4_uc009ztf.3_Missense_Mutation_p.G442E|NTN4_uc009ztg.3_Missense_Mutation_p.G405E NM_021229 NP_067052 Q9HB63 NET4_HUMAN Homo sapiens netrin 4 (NTN4), mRNA. 442 Laminin EGF-like 3. axon guidance basement membrane|plasma membrane NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 GCCATAGTCTCCGAAGCCCCA 0.597000 38 6 0 0 1 0 0 PLXDC1 57125 broad.mit.edu 37 17 37296031 37296031 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:37296031C>T uc002hrg.2 - 1 343 c.131G>A c.(130-132)tGg>tAg p.W44* PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript NM_020405 NP_065138 Q8IUK5 PXDC1_HUMAN Homo sapiens plexin domain containing 1 (PLXDC1), mRNA. 44 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 TCTCCGGTTCCAGCCCCGCAC 0.662000 41 9 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144911926 144911926 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:144911926G>A uc021ouh.1 - 15 2485 c.2183C>T c.(2182-2184)tCa>tTa p.S728L NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.S728L|PDE4DIP_uc001elx.4_Missense_Mutation_p.S794L|PDE4DIP_uc001emd.2_Missense_Mutation_p.S728L|PDE4DIP_uc001emc.2_Missense_Mutation_p.S728L|PDE4DIP_uc001emb.1_Missense_Mutation_p.S891L|PDE4DIP_uc001eme.1_Missense_Mutation_p.S257L NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 728 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GGCAGTCAATGAAGTGCTATC 0.378000 T PDGFRB MPD 70 4 0 0 1 0 0 CPLX2 10814 broad.mit.edu 37 5 175306869 175306869 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:175306869G>A uc003mde.1 + 4 572 c.226G>A c.(226-228)Gag>Aag p.E76K CPLX2_uc003mdf.1_Missense_Mutation_p.E76K|CPLX2_uc021yib.1_5'Flank NM_006650 NP_006641 Q6PUV4 CPLX2_HUMAN Homo sapiens complexin 2 (CPLX2), transcript variant 1, mRNA. 76 Interaction with the SNARE complex (By similarity). mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis cytosol endometrium(3)|kidney(2)|lung(3)|ovary(2) 10 all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GAAGAAGAAGGAGGAGAAGGA 0.647000 16 5 0 0 1 0 0 HGD 3081 broad.mit.edu 37 3 120347241 120347241 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:120347241C>T uc003edw.3 - 13 1784 c.1324G>A c.(1324-1326)Gca>Aca p.A442T HGD_uc003edv.3_Missense_Mutation_p.A301T NM_000187 NP_000178 Q93099 HGD_HUMAN Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA. 442 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) TTAGGTTCTGCTGGGTTCCTG 0.473000 78 7 0 0 1 0 0 C2orf55 343990 broad.mit.edu 37 2 99413844 99413844 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:99413844C>T uc002szf.1 - 7 2867 c.2573G>A c.(2572-2574)gGa>gAa p.G858E NM_207362 NP_997245 Q6NV74 CB055_HUMAN Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA. 858 NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 GGCTTGCTTTCCTGGTTCAGA 0.622000 110 10 0 0 1 0 0 TTC22 55001 broad.mit.edu 37 1 55266612 55266612 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:55266612G>A uc009vzt.1 - 0 330 c.225C>T c.(223-225)ttC>ttT p.F75F TTC22_uc001cxz.4_Silent_p.F75F NM_001114108 NP_001107580 Q5TAA0 TTC22_HUMAN Homo sapiens tetratricopeptide repeat domain 22 (TTC22), transcript variant 1, mRNA. 75 binding kidney(1)|large_intestine(1)|lung(7)|skin(1) 10 GGTAGAATGCGAAAGCGCCCA 0.711000 13 6 0 0 1 0 0 TBCD 6904 broad.mit.edu 37 17 80887143 80887143 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:80887143C>T uc002kfy.1 + 30 2978 c.2848C>T c.(2848-2850)Ccc>Tcc p.P950S TBCD_uc002kfz.3_Missense_Mutation_p.P950S|TBCD_uc002kgb.1_Missense_Mutation_p.P275S|TBCD_uc002kgd.3_5'Flank NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN Homo sapiens tubulin folding cofactor D (TBCD), mRNA. 950 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction GTPase activator activity|beta-tubulin binding|chaperone binding Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) AAAGCTGTTTCCCAGGTACTG 0.637000 25 4 0 0 1 0 0 PLA1A 51365 broad.mit.edu 37 3 119348287 119348287 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:119348287C>T uc003ecu.3 + 10 1409 c.1343C>T c.(1342-1344)tCc>tTc p.S448F PLA1A_uc003ecv.3_Missense_Mutation_p.S432F|PLA1A_uc011bjc.2_Missense_Mutation_p.S275F|PLA1A_uc003ecw.3_Non-coding_Transcript NM_015900 NP_001193890 Q53H76 PLA1A_HUMAN Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA. 448 Involved in the recognition of diacyl- phospholipids. lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GTGACTGTTTCCTGTGACCTG 0.453000 59 10 0 0 1 0 0 LZTS2 84445 broad.mit.edu 37 10 102762545 102762545 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:102762545C>T uc001ksj.3 + 1 420 c.250C>T c.(250-252)Cct>Tct p.P84S LZTS2_uc010qpw.2_Missense_Mutation_p.P84S|LZTS2_uc001ksk.3_Missense_Mutation_p.P84S|LZTS2_uc001ksl.3_Missense_Mutation_p.P84S|LZTS2_uc001ksm.3_Non-coding_Transcript NM_032429 NP_115805 Q9BRK4 LZTS2_HUMAN Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA. 84 Required for centrosomal localization (By similarity). Wnt receptor signaling pathway|cell division|mitosis membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GAAGGCTGTCCCTGTCACCAG 0.627000 24 6 0 0 1 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118365010 118365010 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:118365010C>T uc001lco.1 + 11 1303 c.1285C>T c.(1285-1287)Ctc>Ttc p.L429F PNLIPRP1_uc001lcp.2_Missense_Mutation_p.L429F NM_006229 NP_006220 P54315 LIPR1_HUMAN Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA. 429 PLAT. lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) AAATCCAACCCTCCCCAAAGT 0.428000 52 5 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131922058 131922058 + Silent SNP G A A rs150100724 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:131922058G>A uc003ytd.4 - 5 1792 c.1536C>T c.(1534-1536)tcC>tcT p.S512S ADCY8_uc010mds.3_Silent_p.S512S NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 512 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GCACCGAGCCGGAGTGGATTC 0.473000 HNSCC(32;0.087) 53 6 0 0 1 0 0 CAMK1 8536 broad.mit.edu 37 3 9799447 9799447 + Silent SNP C T T rs141116659 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:9799447C>T uc003bst.3 - 10 1181 c.996G>A c.(994-996)gcG>gcA p.A332A OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_Silent_p.A106A|AX748417_uc003bsv.1_5'Flank NM_003656 NP_003647 Q14012 KCC1A_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA. 332 cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 12 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) CCCCATGGCTCGCCGTCTGCC 0.652000 41 4 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52516652 52516652 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:52516652G>A uc001vfw.2 - 14 3439 c.3282C>T c.(3280-3282)ttC>ttT p.F1094F ATP7B_uc001vfy.2_Silent_p.F983F|ATP7B_uc010adv.2_Silent_p.F664F|ATP7B_uc001vfx.2_Silent_p.F887F|ATP7B_uc010tgt.1_Silent_p.F1029F|ATP7B_uc010tgu.1_Silent_p.F1046F|ATP7B_uc010tgv.1_Silent_p.F1016F|ATP7B_uc001vfv.2_Silent_p.F366F|ATP7B_uc010tgs.1_Silent_p.F305F NM_000053 NP_000044 P35670 ATP7B_HUMAN Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA. 1094 F -> L (in WD). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) GCACTGCCTGGAAGTCCGTGC 0.562000 Wilson disease 54 13 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32585531 32585532 + Missense_Mutation DNP CT TA TA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:32585531_32585532CT>TA uc003xiv.2 + 5 1084_1085 c.567_568CT>TA c.(565-570)ttctgt>ttTAgt p.C190S NRG1_uc022ats.1_Missense_Mutation_p.C135S|NRG1_uc003xip.3_Missense_Mutation_p.C371S|NRG1_uc003xir.3_Missense_Mutation_p.C190S|NRG1_uc010lvl.3_Missense_Mutation_p.C173S|NRG1_uc010lvm.3_Missense_Mutation_p.C156S|NRG1_uc010lvn.3_Missense_Mutation_p.C156S|NRG1_uc003xis.3_Missense_Mutation_p.C190S|NRG1_uc011lbf.1_Missense_Mutation_p.C190S|NRG1_uc010lvo.2_Missense_Mutation_p.C190S|NRG1_uc003xiu.2_Missense_Mutation_p.C190S|NRG1_uc003xiw.2_Missense_Mutation_p.C190S|NRG1_uc003xit.2_Missense_Mutation_p.C190S|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Missense_Mutation_p.C139S|NRG1_uc010lvq.2_Missense_Mutation_p.C115S|NRG1_uc003xix.3_Missense_Mutation_p.C80S|NRG1_uc003xiy.3_Missense_Mutation_p.C245S|NRG1_uc011lbg.1_Missense_Mutation_p.C36S|NRG1_uc011lbh.1_Missense_Mutation_p.C36S|NRG1_uc003xiz.1_Non-coding_Transcript|NRG1_uc003xja.2_5'UTR NM_013964 NP_039258 Q02297 NRG1_HUMAN Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA. 190 EGF-like. Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity p.C190G(3)|p.C245G(1)|p.C371G(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) AGAAAACTTTCTGTGTGAATGG 0.441000 50 8 0 0 1 0 0 CIAPIN1 57019 broad.mit.edu 37 16 57473199 57473199 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:57473199G>A uc002ell.1 - 2 376 c.205C>T c.(205-207)Cca>Tca p.P69S CIAPIN1_uc002elm.1_Missense_Mutation_p.P56S|CIAPIN1_uc010vhm.1_Missense_Mutation_p.P69S NM_020313 NP_064709 Q6FI81 CPIN1_HUMAN Homo sapiens cytokine induced apoptosis inhibitor 1 (CIAPIN1), mRNA. 69 anti-apoptosis|apoptosis cytoplasm|nucleolus cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 GTGCTTCCTGGGACTAAACCT 0.483000 148 23 0 0 1 0 0 TUBA4A 7277 broad.mit.edu 37 2 220115714 220115714 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:220115714G>A uc002vkt.1 - 3 765 c.707C>T c.(706-708)tCc>tTc p.S236F TUBA4A_uc010zkz.1_Missense_Mutation_p.S221F|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank NM_006000 NP_005991 P68366 TBA4A_HUMAN Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA. 236 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGTGATGGAGGAGACAATTTG 0.557000 51 10 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47704239 47704239 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:47704239G>A uc002zir.1 - 0 998 c.962C>T c.(961-963)cCt>cTt p.P321L YBEY_uc002zit.1_5'Flank|YBEY_uc002ziu.1_5'Flank|YBEY_uc010gqh.3_5'Flank|YBEY_uc002ziv.3_5'Flank|YBEY_uc002ziw.3_5'Flank|YBEY_uc002zix.3_5'Flank|YBEY_uc002ziy.3_5'Flank NM_003906 NP_003897 O60318 MCM3A_HUMAN Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA. 321 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) TTTGTCTGGAGGATGATCGCC 0.532000 128 9 0 0 1 0 0 LTK 4058 broad.mit.edu 37 15 41796211 41796211 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:41796211G>A uc001zoa.3 - 19 2756 c.2578C>T c.(2578-2580)Ccc>Tcc p.P860S LTK_uc001zob.3_Missense_Mutation_p.P799S|LTK_uc010ucx.1_Missense_Mutation_p.P730S|LTK_uc010bcg.2_Missense_Mutation_p.P558S NM_002344 NP_002335 P29376 LTK_HUMAN Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA. 860 apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1) 26 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) CGATAAGTGGGATTCCAAAGG 0.602000 TSP Lung(18;0.14) 47 5 0 0 1 0 0 PNPLA5 150379 broad.mit.edu 37 22 44282250 44282250 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:44282250C>T uc003beg.3 - 5 1015 c.882G>A c.(880-882)tgG>tgA p.W294* PNPLA5_uc003beh.3_Nonsense_Mutation_p.W180*|PNPLA5_uc021wqw.1_Nonsense_Mutation_p.W294*|PNPLA5_uc021wqx.1_Nonsense_Mutation_p.W180*|PNPLA5_uc011aqc.2_Nonsense_Mutation_p.W154* NM_138814 NP_620169 Q7Z6Z6 PLPL5_HUMAN Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA. 294 lipid catabolic process hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 16 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) GGGGCACTTTCCAGTTGAGAG 0.577000 58 9 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153689749 153689749 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:153689749T>G uc004flm.3 + 2 1078 c.905T>G c.(904-906)cTg>cGg p.L302R NM_017514 NP_059984 P51805 PLXA3_HUMAN Homo sapiens plexin A3 (PLXNA3), mRNA. 302 Sema. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AAGCCTGGCCTGCTGCTGGCC 0.662000 50 12 0 0 1 0 0 SKIL 6498 broad.mit.edu 37 3 170078770 170078770 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:170078770C>T uc003fgu.3 + 1 1363 c.651C>T c.(649-651)tcC>tcT p.S217S SKIL_uc011bps.2_Silent_p.S197S|SKIL_uc003fgv.3_Silent_p.S217S|SKIL_uc003fgw.3_Silent_p.S217S NM_005414 NP_005405 P12757 SKIL_HUMAN Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA. 217 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development PML body|cytoplasm SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity p.P216Q(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) ATGCCCCATCCTGTGGGCTGA 0.403000 62 6 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117432245 117432246 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:117432245_117432246GG>AA uc003vjf.3 - 3 1096_1097 c.1004_1005CC>TT c.(1003-1005)ccc>cTT p.P335L NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA. 335 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CAGAAACTAGGGGACTCCCTGT 0.500000 136 9 0 0 1 0 0 FAM22F 54754 broad.mit.edu 37 9 97081280 97081280 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:97081280C>T uc004aup.1 - 6 1759 c.1738G>A c.(1738-1740)Gga>Aga p.G580R NM_017561 NP_060031 A1L443 FA22F_HUMAN Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA. 580 central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1) 19 Acute lymphoblastic leukemia(62;0.136) TCCTGACATCCCAAAAGCACA 0.667000 48 4 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146720092 146720092 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:146720092C>T uc010khw.1 + 7 2387 c.1917C>T c.(1915-1917)ttC>ttT p.F639F GRM1_uc010khv.1_Silent_p.F639F|GRM1_uc003qll.2_Silent_p.F639F|GRM1_uc011edz.1_Silent_p.F639F|GRM1_uc011eea.1_Silent_p.F639F NM_000838 NP_000829 Q13255 GRM1_HUMAN Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA. 639 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.F639fs*37(1) NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CTGGCATCTTCCTTGGTTATG 0.517000 110 6 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51901748 51901748 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:51901748G>A uc002iua.2 + 0 1510 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K KIF2B_uc010wna.1_Non-coding_Transcript NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN Homo sapiens kinesin family member 2B (KIF2B), mRNA. 452 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AGCTGGGAATGAAAGAGGAGC 0.488000 27 4 0 0 1 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891091 2891091 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:2891091C>T uc002kln.3 + 3 1125 c.966C>T c.(964-966)atC>atT p.I322I NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA. 322 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) ACAGTAAGATCGACGCCCTGA 0.562000 78 5 0 0 1 0 0 CABYR 26256 broad.mit.edu 37 18 21735683 21735683 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:21735683G>A uc002kux.3 + 3 370 c.218G>A c.(217-219)gGa>gAa p.G73E CABYR_uc021uig.1_Missense_Mutation_p.G55E|CABYR_uc010xbb.1_5'UTR|CABYR_uc002kuy.3_Missense_Mutation_p.G73E|CABYR_uc002kuz.3_Missense_Mutation_p.G73E|CABYR_uc002kva.3_Missense_Mutation_p.G55E|CABYR_uc002kvb.3_5'UTR|CABYR_uc002kvc.3_Missense_Mutation_p.G73E|CABYR_uc010dlw.3_Non-coding_Transcript NM_012189 NP_036321 O75952 CABYR_HUMAN Homo sapiens calcium binding tyrosine-(Y)-phosphorylation regulated (CABYR), transcript variant 1, mRNA. 73 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus SH3 domain binding|cAMP-dependent protein kinase regulator activity|calcium ion binding|enzyme binding|protein heterodimerization activity breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) TGGTCAGAAGGAACGACACCA 0.323000 49 5 0 0 1 0 0 NPPB 4879 broad.mit.edu 37 1 11918790 11918790 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:11918790G>A uc001atj.3 - 0 203 c.101C>T c.(100-102)tCa>tTa p.S34L NM_002521 NP_002512 P16860 ANFB_HUMAN Homo sapiens natriuretic peptide B (NPPB), mRNA. 34 body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation extracellular space diuretic hormone activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624) GTCCGAGGCTGAACCGGGGCT 0.627000 145 7 0 0 1 0 0 EEFSEC 60678 broad.mit.edu 37 3 127983489 127983489 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:127983489G>A uc003eki.3 + 3 689 c.651G>A c.(649-651)acG>acA p.T217T NM_021937 NP_068756 P57772 SELB_HUMAN Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA. 217 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 CCATCCCAACGAGAGATCCCT 0.562000 146 10 0 0 1 0 0 ZFP42 132625 broad.mit.edu 37 4 188924578 188924578 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:188924578G>A uc003izh.1 + 3 1025 c.617G>A c.(616-618)aGa>aAa p.R206K ZFP42_uc003izi.1_Missense_Mutation_p.R206K|ZFP42_uc021xvm.1_Missense_Mutation_p.R206K NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA. 206 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GCTGCCCTGAGAAAGCATCTC 0.478000 79 19 0 0 1 0 0 ETV5 2119 broad.mit.edu 37 3 185797717 185797717 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:185797717G>A uc003fpy.3 - 6 730 c.665C>T c.(664-666)tCg>tTg p.S222L ETV5_uc003fpz.3_Missense_Mutation_p.S180L NM_004454 NP_004445 P41161 ETV5_HUMAN Homo sapiens ets variant 5 (ETV5), mRNA. 180 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 28 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) CTCTGGAAGCGAATGGGGGGC 0.617000 T """TMPRSS2, SCL45A3""" Prostate 70 5 0 0 1 0 0 LFNG 3955 broad.mit.edu 37 7 2564905 2564905 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:2564905C>T uc003smf.3 + 2 551 c.534C>T c.(532-534)tcC>tcT p.S178S LFNG_uc021zyw.1_Silent_p.S107S|LFNG_uc021zyx.1_Silent_p.S49S|LFNG_uc003smg.3_Silent_p.S178S|MIR4648_uc021zyy.1_5'Flank NM_001040167 NP_001035257 Q8NES3 LFNG_HUMAN Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA. 178 organ morphogenesis extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.54e-14) AGGCGCTGTCCTGCAAGATGG 0.677000 27 5 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24390630 24390630 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:24390630C>T uc001bin.4 - 29 3717 c.3554G>A c.(3553-3555)gGa>gAa p.G1185E MYOM3_uc001bil.4_Missense_Mutation_p.G78E|MYOM3_uc001bim.4_Missense_Mutation_p.G842E NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 1185 Ig-like C2-type 3. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TCTGTAAATTCCCTTGTCCTT 0.557000 61 6 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115393910 115393910 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:115393910C>T uc001lal.3 - 14 1652 c.1488G>A c.(1486-1488)caG>caA p.Q496Q NRAP_uc001laj.3_Silent_p.Q496Q|NRAP_uc001lak.3_Silent_p.Q461Q NM_198060 NP_932326 Q86VF7 NRAP_HUMAN Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA. 496 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CTTGAACAATCTGTGGGGTGT 0.468000 62 14 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109695015 109695015 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:109695015G>A uc004eor.2 + 2 1416 c.1170G>A c.(1168-1170)gtG>gtA p.V390V RGAG1_uc011msr.1_Silent_p.V390V NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA. 390 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 ATCCGCCAGTGAGAGCAACAG 0.537000 128 15 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 72892138 72892138 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:72892138G>A uc003pga.3 + 5 1041 c.964G>A c.(964-966)Ggg>Agg p.G322R RIMS1_uc011dyb.2_5'UTR|RIMS1_uc003pgc.3_5'UTR|RIMS1_uc003pgb.4_5'UTR NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA. 322 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GCTTGAGAAAGGGCGATCACA 0.577000 16 3 0 0 1 0 0 LRRN4 164312 broad.mit.edu 37 20 6021700 6021700 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:6021700C>T uc002wmo.2 - 4 2415 c.2191G>A c.(2191-2193)Gat>Aat p.D731N NM_152611 NP_689824 Q8WUT4 LRRN4_HUMAN Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA. 731 integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 AGCGGGTAATCATCAAAGGCC 0.607000 36 9 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72256034 72256034 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:72256034G>A uc021rkj.1 - 1 1286 c.863C>T c.(862-864)cCt>cTt p.P288L DACH1_uc021rkk.1_Missense_Mutation_p.P288L|DACH1_uc021rkl.1_Missense_Mutation_p.P288L NM_080759 NP_542937 Q9UI36 DACH1_HUMAN Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA. 286 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) AGGCCTTCCAGGTCTAGAACT 0.403000 19 11 0 0 1 0 0 ACSL5 51703 broad.mit.edu 37 10 114168252 114168252 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:114168252G>A uc001kzu.3 + 5 785 c.673G>A c.(673-675)Gaa>Aaa p.E225K ACSL5_uc001kzs.3_Missense_Mutation_p.E169K|ACSL5_uc001kzt.3_Missense_Mutation_p.E169K|ACSL5_uc009xxz.3_Missense_Mutation_p.E169K|ACSL5_uc010qrj.2_5'Flank NM_016234 NP_976314 Q9ULC5 ACSL5_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA. 169 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) CTTGGGACCAGAAGCCATCGT 0.393000 46 4 0 0 1 0 0 CD300LB 124599 broad.mit.edu 37 17 72521938 72521938 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:72521938C>T uc002jkx.2 - 1 443 c.430G>A c.(430-432)Gaa>Aaa p.E144K CD300LB_uc010wqz.1_Missense_Mutation_p.E144K NM_174892 NP_777552 A8K4G0 CLM7_HUMAN Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA. 107 G -> R (in Ref. 1; AAV69612). integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1) 21 CCTCTTCTTTCAATCCCACAC 0.527000 161 59 0 0 1 0 0 CLDN22 53842 broad.mit.edu 37 4 184241037 184241037 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:184241037C>T uc010isa.1 - 0 891 c.335G>A c.(334-336)aGa>aAa p.R112K WWC2_uc010irx.3_3'UTR|WWC2_uc003ivk.4_3'UTR|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_3'UTR|WWC2_uc003ivn.4_3'UTR|WWC2_uc010irz.3_3'UTR|WWC2_uc003ivo.4_3'UTR NM_001111319 NP_001104789 Q8N7P3 CLD22_HUMAN Homo sapiens claudin 22 (CLDN22), mRNA. 112 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1) 7 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176) all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) CTTGAGATCTCTCTGACTCTC 0.547000 37 4 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200968540 200968540 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:200968540C>T uc001gvs.2 - 12 2139 c.1822G>A c.(1822-1824)Gaa>Aaa p.E608K KIF21B_uc009wzl.2_Missense_Mutation_p.E608K|KIF21B_uc001gvr.2_Missense_Mutation_p.E608K|KIF21B_uc010ppn.2_Missense_Mutation_p.E608K NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 608 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TCCTCATCTTCATCCTCGCGC 0.642000 71 9 0 0 1 0 0 RXRG 6258 broad.mit.edu 37 1 165370563 165370563 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:165370563G>A uc001gda.3 - 9 1791 c.1329C>T c.(1327-1329)atC>atT p.I443I RXRG_uc021pea.1_Silent_p.I320I NM_006917 NP_008848 P48443 RXRG_HUMAN Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA. 443 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) GGGTGTCCCCGATGAGCTTGA 0.602000 95 20 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814058 137814058 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:137814058C>T uc002tva.1 + 1 115 c.115C>T c.(115-117)Cat>Tat p.H39Y THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GTGGTGTTTTCATGTTGACGG 0.512000 26 7 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17417237 17417237 + Silent SNP G A A rs146584228 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:17417237G>A uc001mnc.3 - 34 4353 c.4227C>T c.(4225-4227)atC>atT p.I1409I NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 1409 ABC transporter 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GCAGTTTGGCGATGTCAATGC 0.632000 305 32 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576652 33576652 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:33576652C>T uc003jia.1 - 18 3642 c.3479G>A c.(3478-3480)gGg>gAg p.G1160E ADAMTS12_uc010iuq.1_Missense_Mutation_p.G1075E NM_030955 NP_112217 P58397 ATS12_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA. 1160 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TCTTTCTTCCCCTGAGCCACT 0.463000 HNSCC(64;0.19) 32 4 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53084844 53084844 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:53084844C>T uc003xqz.2 - 4 733 c.577G>A c.(577-579)Gaa>Aaa p.E193K ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.E158K|ST18_uc011lds.1_Missense_Mutation_p.E98K|ST18_uc003xra.2_Missense_Mutation_p.E193K|ST18_uc003xrb.2_Missense_Mutation_p.E193K NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 193 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GAGTTACTTTCATTGTCATCA 0.438000 68 5 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35863062 35863062 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:35863062C>T uc001byt.3 + 19 3195 c.3115C>T c.(3115-3117)Ccc>Tcc p.P1039S ZMYM4_uc009vuu.3_Missense_Mutation_p.P1007S|ZMYM4_uc001byu.3_Missense_Mutation_p.P715S|ZMYM4_uc009vuv.3_Missense_Mutation_p.P778S NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA. 1039 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGAAAAGCTTCCCACACATCC 0.398000 41 4 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56515437 56515437 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:56515437G>A uc002qmj.3 + 1 418 c.418G>A c.(418-420)Gag>Aag p.E140K NLRP5_uc002qmi.3_Missense_Mutation_p.E140K NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 140 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) AACCCTCTCGGAGAAGGCACG 0.517000 56 4 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3348587 3348587 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:3348587G>A uc001akf.3 + 15 3661 c.3579G>A c.(3577-3579)ggG>ggA p.G1193G PRDM16_uc001ake.3_Silent_p.G1193G|PRDM16_uc009vlh.3_Silent_p.G893G|PRDM16_uc001akc.3_Silent_p.G1192G NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 1193 Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CGACTTTTGGGAAGGGGCTGG 0.532000 T EVI1 """MDS, AML""" 82 7 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181680125 181680125 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:181680125G>A uc009wxt.3 + 7 1286 c.1091G>A c.(1090-1092)cGa>cAa p.R364Q CACNA1E_uc001gow.3_Missense_Mutation_p.R364Q|CACNA1E_uc009wxs.3_Missense_Mutation_p.R364Q NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 364 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.R364R(1) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GTGGAGAACCGAAGGGCTTTC 0.537000 50 5 0 0 1 0 0 ABCG1 9619 broad.mit.edu 37 21 43714762 43714762 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:43714762C>T uc011aev.2 + 13 1907 c.1833C>T c.(1831-1833)tcC>tcT p.S611S ABCG1_uc002zam.3_Silent_p.S566S|ABCG1_uc002zan.3_Silent_p.S590S|ABCG1_uc002zao.3_Silent_p.S585S|ABCG1_uc002zap.3_Silent_p.S588S|ABCG1_uc002zaq.3_Silent_p.S600S|ABCG1_uc002zar.3_Silent_p.S599S|ABCG1_uc010gpb.2_Silent_p.L241L NM_004915 NP_004906 P45844 ABCG1_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA. 600 ABC transmembrane type-2. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) CCTACATCTCCTATGTCAGGT 0.617000 78 6 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 112018715 112018715 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:112018715C>T uc004bdz.1 - 7 1093 c.798G>A c.(796-798)gcG>gcA p.A266A EPB41L4B_uc004bea.3_Silent_p.A266A NM_019114 NP_061987 Q9H329 E41LB_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA. 266 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCAGCCACTTCGCTTTATTCA 0.438000 82 13 0 0 1 0 0 PATZ1 23598 broad.mit.edu 37 22 31741063 31741063 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:31741063G>A uc003akq.3 - 0 1187 c.526C>T c.(526-528)Cgc>Tgc p.R176C PATZ1_uc003akp.3_Missense_Mutation_p.R176C|PATZ1_uc003akr.3_Missense_Mutation_p.R176C|PATZ1_uc003aks.3_Missense_Mutation_p.R176C|Em:AC005003.4_uc003akt.3_5'Flank NM_014323 NP_055138 Q9HBE1 PATZ1_HUMAN Homo sapiens POZ (BTB) and AT hook containing zinc finger 1 (PATZ1), transcript variant 1, mRNA. 176 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 12 CCAGGGGGGCGAAAGAGCATT 0.592000 117 10 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38429504 38429504 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:38429504C>T uc003tgu.3 - 19 2097 c.1881G>A c.(1879-1881)gtG>gtA p.V627V AMPH_uc003tgv.3_Silent_p.V585V|AMPH_uc003tgt.3_Silent_p.V512V NM_001635 NP_001626 P49418 AMPH_HUMAN Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA. 627 SH3. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 GCAGTGTTTCCACCTGCAGAA 0.433000 87 9 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13397454 13397454 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:13397454G>A uc002mwy.3 - 19 3652 c.3416C>T c.(3415-3417)aCc>aTc p.T1139I CACNA1A_uc010dzc.2_Missense_Mutation_p.T665I|CACNA1A_uc010xnd.2_Missense_Mutation_p.T1142I|CACNA1A_uc021ups.1_Missense_Mutation_p.T1139I|CACNA1A_uc010xne.2_Missense_Mutation_p.T1142I|CACNA1A_uc010dze.2_Missense_Mutation_p.T1139I|CACNA1A_uc021upt.1_Missense_Mutation_p.T1140I NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 1140 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) ATTCTCGGGGGTCTTGGGGGG 0.647000 23 5 0 0 1 0 0 HAP1 9001 broad.mit.edu 37 17 39881380 39881380 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39881380C>T uc002hxm.1 - 11 1601 c.1589G>A c.(1588-1590)cGa>cAa p.R530Q JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.R478Q|HAP1_uc002hxo.1_Missense_Mutation_p.R461Q|HAP1_uc002hxp.1_Missense_Mutation_p.R453Q NM_177977 NP_817084 P54257 HAP1_HUMAN Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA. 530 Glu-rich. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) CACCTGCTCTCGATCCTCACT 0.607000 160 8 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9026256 9026256 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9026256C>T uc002mkp.3 - 13 36934 c.36730G>A c.(36730-36732)Gag>Aag p.E12244K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12246 SEA 2. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.E12244*(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGTCCTCCTCGTACTGCAGG 0.532000 85 9 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112786120 112786120 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:112786120G>A uc002thk.1 + 18 2801 c.2679G>A c.(2677-2679)ctG>ctA p.L893L MERTK_uc002thl.1_Silent_p.L717L NM_006343 NP_006334 Q12866 MERTK_HUMAN Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA. 893 cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TTGCTCCACTGGACTTGAACA 0.542000 101 12 0 0 1 0 0 FANCA 2175 broad.mit.edu 37 16 89831327 89831328 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:89831327_89831328GG>AA uc002fou.1 - 27 2790_2791 c.2748_2749CC>TT c.(2746-2751)ttccga>ttTTga p.R917* FANCA_uc010vpn.1_Nonsense_Mutation_p.R917*|FANCA_uc010vpo.2_Nonsense_Mutation_p.R46* NM_000135 NP_000126 O15360 FANCA_HUMAN Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA. 917 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) AACACCTCTCGGAAGGTTCTGT 0.550000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 68 5 0 0 1 0 0 CNNM4 26504 broad.mit.edu 37 2 97464958 97464958 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:97464958C>T uc002swx.3 + 3 1944 c.1846C>T c.(1846-1848)Ctg>Ttg p.L616L CNNM4_uc010yuy.2_Silent_p.L103L NM_020184 NP_064569 Q6P4Q7 CNNM4_HUMAN Homo sapiens cyclin M4 (CNNM4), mRNA. 616 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 CATCCTCATCCTGCAGGTGAG 0.597000 77 8 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7681415 7681415 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:7681415C>T uc002giu.1 + 32 5282 c.5268C>T c.(5266-5268)atC>atT p.I1756I NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 1756 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACTGTGTCATCCGCCAGACCA 0.532000 49 5 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3306549 3306549 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:3306549C>T uc002cun.1 - 0 79 c.39G>A c.(37-39)ctG>ctA p.L13L MEFV_uc021tbw.1_Silent_p.L13L|MEFV_uc021tbx.1_5'UTR|MEFV_uc021tby.1_5'UTR|MEFV_uc021tbz.1_5'UTR|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_5'UTR NM_000243 NP_000234 O15553 MEFV_HUMAN Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. 13 DAPIN. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CCAGCTCCTCCAGGGTGGACA 0.567000 149 9 0 0 1 0 0 KIAA1467 57613 broad.mit.edu 37 12 13208816 13208816 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:13208816C>T uc001rbi.3 + 1 392 c.369C>T c.(367-369)ttC>ttT p.F123F NM_020853 NP_065904 A2RU67 K1467_HUMAN Homo sapiens KIAA1467 (KIAA1467), mRNA. 123 integral to membrane NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) TGTGTGCTTTCCTGATCCCCT 0.577000 36 4 0 0 1 0 0 KRTAP13-3 337960 broad.mit.edu 37 21 31797893 31797893 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:31797893C>T uc002yob.1 - 0 338 c.338G>A c.(337-339)gGa>gAa p.G113E NM_181622 NP_853653 Q3SY46 KR133_HUMAN Homo sapiens keratin associated protein 13-3 (KRTAP13-3), mRNA. 113 intermediate filament endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 14 GCTCCTGGATCCACAGCTCAG 0.502000 16 5 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38888565 38888565 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:38888565G>A uc021wvy.1 - 25 5195 c.4996C>T c.(4996-4998)Caa>Taa p.Q1666* NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 1666 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ACTAGAAATTGATATTTATTT 0.463000 16 4 0 0 1 0 0 SMU1 55234 broad.mit.edu 37 9 33060542 33060542 + Missense_Mutation SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:33060542G>T uc003zsf.1 - 5 779 c.671C>A c.(670-672)cCa>cAa p.P224Q SMU1_uc011lnu.1_Missense_Mutation_p.P63Q NM_018225 NP_060695 Q2TAY7 SMU1_HUMAN Homo sapiens smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) (SMU1), mRNA. 224 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) CTGACCATCTGGAGAAAATCG 0.348000 23 3 1 1 1 1 0 TMCC1 23023 broad.mit.edu 37 3 129389268 129389268 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:129389268G>A uc021xdy.1 - 3 1850 c.1416C>T c.(1414-1416)acC>acT p.T472T TMCC1_uc003emy.4_Silent_p.T148T|TMCC1_uc011blc.2_Silent_p.T293T|TMCC1_uc010htg.3_Silent_p.T358T NM_001017395 NP_001121696 O94876 TMCC1_HUMAN Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA. 472 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GTCTGGCCTGGGTTTCCCGGA 0.478000 66 4 0 0 1 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73315605 73315605 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:73315605G>A uc002siu.4 - 2 1382 c.1141C>T c.(1141-1143)Cgt>Tgt p.R381C RAB11FIP5_uc002sit.4_Missense_Mutation_p.R303C NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA. 381 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 TCTGTGGAACGAGGCCCCTCC 0.637000 61 13 0 0 1 0 0 INTS2 57508 broad.mit.edu 37 17 59945296 59945296 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:59945296G>A uc002izn.3 - 23 3419 c.3343C>T c.(3343-3345)Cct>Tct p.P1115S INTS2_uc002izm.3_Missense_Mutation_p.P1107S NM_020748 NP_065799 Q9H0H0 INT2_HUMAN Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA. 1115 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 TACAATGGAGGAAATGCTCGA 0.378000 44 5 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74991854 74991854 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:74991854C>T uc001xqa.3 - 14 2890 c.2503G>A c.(2503-2505)Gat>Aat p.D835N NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 835 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) ACCAGCACATCAGTGGAGGGG 0.597000 82 12 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177913747 177913747 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:177913747G>A uc001glj.1 - 19 2699 c.1833C>T c.(1831-1833)ttC>ttT p.F611F SEC16B_uc001glk.1_Silent_p.F287F|SEC16B_uc009wwy.1_Silent_p.F165F|SEC16B_uc001glh.1_Silent_p.F269F|SEC16B_uc001gli.1_Silent_p.F610F|SEC16B_uc009wwz.1_Silent_p.F269F NM_033127 NP_149118 Q96JE7 SC16B_HUMAN Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA. 610 protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 GACAGTACTCGAAGATTTCCG 0.493000 144 14 0 0 1 0 0 NRP1 8829 broad.mit.edu 37 10 33475373 33475373 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:33475373C>T uc001iwx.4 - 13 2629 c.2106G>A c.(2104-2106)aaG>aaA p.K702K NRP1_uc001iwv.4_Silent_p.K702K|NRP1_uc001iwy.4_Silent_p.K695K|NRP1_uc009xlz.3_Silent_p.K696K|NRP1_uc001iww.4_Silent_p.K514K NM_003873 NP_003864 O14786 NRP1_HUMAN Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA. 702 MAM. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) CCACTTTGCCCTTCTGATTTT 0.512000 38 9 0 0 1 0 0 GFPT2 9945 broad.mit.edu 37 5 179745923 179745923 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:179745923G>A uc003mlw.1 - 9 926 c.828C>T c.(826-828)ttC>ttT p.F276F NM_005110 NP_005101 O94808 GFPT2_HUMAN Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA. 276 Glutamine amidotransferase type-2. UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) CGTCCTCCAGGAAGATGACCC 0.597000 35 7 0 0 1 0 0 DMRTB1 63948 broad.mit.edu 37 1 53927230 53927230 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:53927230C>T uc001cvq.1 + 1 717 c.662C>T c.(661-663)cCg>cTg p.P221L NM_033067 NP_149056 Q96MA1 DMRTB_HUMAN Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA. 221 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 TGCCCGTTCCCGCTGGGCTAC 0.662000 86 6 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86453318 86453318 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:86453318C>T uc001dlj.3 - 19 2405 c.2330G>A c.(2329-2331)gGg>gAg p.G777E COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.G77E|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript NM_152890 NP_690850 Q17RW2 COOA1_HUMAN Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA. 777 Collagen-like 4. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TCCAGGAATCCCAATATCTCC 0.348000 8 3 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9056445 9056445 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9056445G>A uc002mkp.3 - 2 31205 c.31001C>T c.(31000-31002)tCt>tTt p.S10334F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10336 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAAGGTTGAAGAGGAGAATGG 0.517000 17 5 0 0 1 0 0 PHYHIP 9796 broad.mit.edu 37 8 22078983 22078983 + Silent SNP G A A rs143500575 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:22078983G>A uc003xbk.4 - 5 1570 c.876C>T c.(874-876)gtC>gtT p.V292V PHYHIP_uc003xbj.4_Silent_p.V292V NM_001099335 NP_055574 Q92561 PHYIP_HUMAN Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA. 292 p.V292I(1) endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 10 Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629) GGGACAGGTCGACGGGCTCAG 0.602000 120 7 0 0 1 0 0 WDR64 128025 broad.mit.edu 37 1 241958551 241958551 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:241958551G>A uc001hzg.2 + 24 3217 c.3010G>A c.(3010-3012)Gag>Aag p.E1004K WDR64_uc021plh.1_Missense_Mutation_p.E631K|WDR64_uc021pli.1_Missense_Mutation_p.E557K NM_144625 NP_653226 B1ANS9 WDR64_HUMAN Homo sapiens WD repeat domain 64 (WDR64), mRNA. 1004 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) TGAAAACAGAGAGGCAGGGAT 0.433000 43 7 0 0 1 0 0 LRP10 26020 broad.mit.edu 37 14 23345488 23345488 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:23345488C>T uc001whd.3 + 4 1884 c.1331C>T c.(1330-1332)gCt>gTt p.A444V LRP10_uc001whe.3_Missense_Mutation_p.A320V NM_014045 NP_054764 Q7Z4F1 LRP10_HUMAN Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA. 444 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) GTCATTACAGCTGCAGTCATT 0.602000 91 5 0 0 1 0 0 OR4S1 256148 broad.mit.edu 37 11 48328235 48328235 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:48328235C>T uc010rhu.2 + 0 461 c.461C>T c.(460-462)tCc>tTc p.S154F NM_001004725 NP_001004725 Q8NGB4 OR4S1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA. 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 TTCCTGCATTCCATCCTGCAG 0.557000 53 8 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921556 12921556 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12921556G>A uc001aum.1 + 3 1434 c.1347G>A c.(1345-1347)agG>agA p.R449R NM_023014 NP_075390 O60811 PRAM2_HUMAN Homo sapiens PRAME family member 2 (PRAMEF2), mRNA. 449 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGCCCAAGAGGATCTTCATTG 0.557000 132 13 0 0 1 0 0 PIWIL3 440822 broad.mit.edu 37 22 25145727 25145727 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:25145727C>T uc003abd.1 - 9 1566 c.1149G>A c.(1147-1149)tgG>tgA p.W383* PIWIL3_uc011ajx.1_Nonsense_Mutation_p.W274*|PIWIL3_uc010gut.1_Nonsense_Mutation_p.W383*|PIWIL3_uc011ajy.1_Nonsense_Mutation_p.W274* NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA. 383 PAZ. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 GGCCCTTTTTCCATCTGCCCT 0.468000 25 5 0 0 1 0 0 PTPRR 5801 broad.mit.edu 37 12 71286542 71286542 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:71286542G>A uc001swi.2 - 1 688 c.274C>T c.(274-276)Ccg>Tcg p.P92S NM_002849 NP_570897 Q15256 PTPRR_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA. 92 in utero embryonic development Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity p.P92Q(1)|p.P92P(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) TTGAGAGACGGGTCATATGCG 0.433000 28 3 0 0 1 0 0 GIPR 2696 broad.mit.edu 37 19 46176122 46176122 + Silent SNP C T T rs148407413 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:46176122C>T uc002pcu.1 + 4 393 c.294C>T c.(292-294)ttC>ttT p.F98F GIPR_uc002pct.1_Silent_p.F98F|GIPR_uc010xxp.1_Silent_p.F62F|GIPR_uc010xxq.1_Non-coding_Transcript|MIR642A_uc021uvx.1_5'Flank NM_000164 NP_000155 P48546 GIPR_HUMAN Homo sapiens gastric inhibitory polypeptide receptor (GIPR), mRNA. 98 generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 12 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) CTGCAGGTTTCGTCCTCCGCC 0.478000 45 7 0 0 1 0 0 LRRC61 65999 broad.mit.edu 37 7 150033974 150033974 + Silent SNP G A A rs138665596 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:150033974G>A uc003wgz.4 + 0 24 c.24G>A c.(22-24)ccG>ccA p.P8P LRRC61_uc003wgv.3_Silent_p.P8P|LRRC61_uc003wgx.3_Silent_p.P8P|LRRC61_uc003wgw.3_Silent_p.P8P NM_023942 NP_076431 Q9BV99 LRC61_HUMAN Homo sapiens leucine rich repeat containing 61 (LRRC61), transcript variant 2, mRNA. 8 endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(82;0.011) CGGAGAAGCCGGGAGAGGCTG 0.637000 61 4 0 0 1 0 0 MTHFD1 4522 broad.mit.edu 37 14 64879230 64879230 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:64879230C>T uc001xhb.3 + 3 614 c.227C>T c.(226-228)aCc>aTc p.T76I MTHFD1_uc010aqe.2_Missense_Mutation_p.T112I|MTHFD1_uc010aqf.3_Missense_Mutation_p.T132I NM_005956 NP_005947 P11586 C1TC_HUMAN Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA. 76 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) CCAAGAACAACCACAGAATCT 0.423000 34 7 0 0 1 0 0 NUP160 23279 broad.mit.edu 37 11 47843341 47843341 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:47843341C>T uc001ngm.3 - 8 1297 c.1212G>A c.(1210-1212)acG>acA p.T404T NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Silent_p.T404T|Y_RNA_uc021qiv.1_5'Flank NM_015231 NP_056046 Q12769 NU160_HUMAN Homo sapiens nucleoporin 160kDa (NUP160), mRNA. 404 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|cytosol nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 CCCAGATATCCGTGGAAGTTA 0.413000 60 9 0 0 1 0 0 KIF19 124602 broad.mit.edu 37 17 72347041 72347041 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:72347041G>A uc002jkm.4 + 11 1722 c.1584G>A c.(1582-1584)caG>caA p.Q528Q KIF19_uc002jkj.2_Silent_p.Q528Q|KIF19_uc002jkk.2_Silent_p.Q486Q|KIF19_uc002jkl.2_Silent_p.Q486Q NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN Homo sapiens kinesin family member 19 (KIF19), mRNA. 528 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 TGCGCAAGCAGAAGGTGTCCA 0.642000 94 16 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194081266 194081266 + Silent SNP G A A rs149184445 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:194081266G>A uc003ftt.3 - 2 650 c.525C>T c.(523-525)ttC>ttT p.F175F LRRC15_uc003ftu.3_Silent_p.F169F|LRRC15_uc021xiy.1_Silent_p.F169F NM_001135057 NP_570843 Q8TF66 LRC15_HUMAN Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA. 169 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) CCAGGTGGTCGAAGGCTCCGT 0.592000 195 10 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 654586 654586 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:654586G>A uc001qii.1 + 5 590 c.590G>A c.(589-591)aGc>aAc p.S197N B4GALNT3_uc001qij.1_Missense_Mutation_p.S99N NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA. 197 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) TTCTGGCTGAGCCTCGATGAC 0.602000 35 8 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44892688 44892688 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:44892688G>A uc001ztx.3 - 20 3694 c.3663C>T c.(3661-3663)atC>atT p.I1221I SPG11_uc010ueh.2_Silent_p.I1221I|SPG11_uc010uei.2_Silent_p.I1221I|SPG11_uc001zty.1_5'UTR NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA. 1221 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TCTTGCTCTTGATTAATTCCT 0.388000 113 7 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66765700 66765700 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:66765700G>A uc004dwu.2 + 0 1827 c.712G>A c.(712-714)Gag>Aag p.E238K AR_uc011mpd.2_Missense_Mutation_p.E238K|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Missense_Mutation_p.E238K|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_Missense_Mutation_p.E238K NM_000044 NP_000035 P10275 ANDR_HUMAN Homo sapiens androgen receptor (AR), transcript variant 1, mRNA. 236 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) CAACGCCAAGGAGTTGTGTAA 0.612000 Androgen Insensitivity Syndrome 20 6 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77170468 77170468 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:77170468C>T uc010xfg.2 + 1 646 c.193C>T c.(193-195)Ctg>Ttg p.L65L NFATC1_uc002lnc.1_Silent_p.L65L|NFATC1_uc010xff.1_Silent_p.L65L|NFATC1_uc002lnd.3_Silent_p.L65L|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Silent_p.L65L|NFATC1_uc010xfi.1_Silent_p.L52L|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Silent_p.L52L|NFATC1_uc002lng.3_Silent_p.L52L|NFATC1_uc010xfk.2_Silent_p.L52L NM_006162 NP_006153 O95644 NFAC1_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA. 65 intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GCACTCCACCCTGCCGGCCCC 0.657000 98 9 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34112369 34112369 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:34112369G>A uc001bxm.1 - 28 4830 c.4653C>T c.(4651-4653)ctC>ctT p.L1551L CSMD2_uc001bxn.1_Silent_p.L1511L|CSMD2_uc001bxo.1_Silent_p.L424L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1511 CUB 9. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGCTTCCTATGAGAGGGCTGA 0.567000 18 8 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4043411 4043411 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:4043411G>A uc002cvx.3 - 3 2524 c.1985C>T c.(1984-1986)aCc>aTc p.T662I NM_001116 NP_001107 O60503 ADCY9_HUMAN Homo sapiens adenylate cyclase 9 (ADCY9), mRNA. 662 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane ATP binding|adenylate cyclase activity|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TGTTACCTTGGTGCTGTTTTT 0.532000 50 6 0 0 1 0 0 MAN1B1 11253 broad.mit.edu 37 9 139995588 139995588 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:139995588C>T uc004cld.2 + 6 1083 c.1048C>T c.(1048-1050)Ctc>Ttc p.L350F MAN1B1_uc004clc.2_Missense_Mutation_p.L251F|MAN1B1_uc011meo.1_Missense_Mutation_p.L251F|MAN1B1_uc011mep.2_Missense_Mutation_p.L350F|MAN1B1_uc010ncc.2_Non-coding_Transcript|MAN1B1_uc004clf.1_5'Flank NM_016219 NP_057303 Q9UKM7 MA1B1_HUMAN Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1), transcript variant 1, mRNA. 350 oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) TGGGGACAGCCTCTTCCTGAG 0.552000 58 5 0 0 1 0 0 CD38 952 broad.mit.edu 37 4 15780091 15780091 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:15780091C>T uc003gol.1 + 0 161 c.54C>T c.(52-54)ctC>ctT p.L18L CD38_uc021xmk.1_Non-coding_Transcript NM_001775 NP_001766 P28907 CD38_HUMAN Homo sapiens CD38 molecule (CD38), mRNA. 18 B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane NAD+ nucleosidase activity|binding|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1) 14 GCTGCCGGCTCTCTAGGAGAG 0.667000 94 16 0 0 1 0 0 SLC30A3 7781 broad.mit.edu 37 2 27481759 27481759 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:27481759G>A uc002rjk.3 - 1 325 c.139C>T c.(139-141)Cct>Tct p.P47S SLC30A3_uc002rjj.3_5'Flank|SLC30A3_uc010ylh.2_Missense_Mutation_p.P42S NM_003459 NP_003450 Q99726 ZNT3_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA. 47 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCTCCACAGGTTTGGACTCC 0.637000 46 21 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685344 125685344 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:125685344G>A uc022cds.1 - 0 1248 c.1248C>T c.(1246-1248)ttC>ttT p.F416F DCAF12L1_uc004eul.3_Silent_p.F416F NM_178470 NP_848565 Q5VU92 DC121_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA. 416 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 AATTCACCCAGAAATCATTGT 0.567000 72 8 0 0 1 0 0 OR7E24 26648 broad.mit.edu 37 19 9362472 9362472 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9362472G>A uc002mlb.1 + 0 753 c.753G>A c.(751-753)ggG>ggA p.G251G NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA. 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 CATCAGATGGGAAGTATAAAG 0.443000 8 3 0 0 1 0 0 FBP2 8789 broad.mit.edu 37 9 97329621 97329621 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:97329621C>T uc004auv.3 - 4 703 c.636G>A c.(634-636)ctG>ctA p.L212L BC080653_uc004aus.1_Intron|BC080653_uc004aut.1_Intron NM_003837 NP_003828 O00757 F16P2_HUMAN Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA. 212 fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding endometrium(1)|large_intestine(3)|lung(5) 9 Acute lymphoblastic leukemia(62;0.136) AGCCCTCATTCAGGCTGTAAA 0.448000 91 15 0 0 1 0 0 ZNF177 7730 broad.mit.edu 37 19 9492070 9492070 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9492070C>T uc021uon.1 + 5 1224 c.1063C>T c.(1063-1065)Ctt>Ttt p.L355F ZNF177_uc002mli.3_Missense_Mutation_p.L195F|ZNF177_uc002mlj.3_3'UTR|ZNF177_uc002mlk.3_Missense_Mutation_p.L195F NM_001172651 NP_001166122 Q13360 ZN177_HUMAN Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA. 195 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2) 13 TCCTTCATCCCTTCAGAAACA 0.458000 29 11 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113504765 113504765 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:113504765C>T uc003ynu.3 - 30 5390 c.5231G>A c.(5230-5232)gGa>gAa p.G1744E CSMD3_uc003yns.3_Missense_Mutation_p.G1016E|CSMD3_uc003ynt.3_Missense_Mutation_p.G1704E|CSMD3_uc011lhx.2_Missense_Mutation_p.G1640E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1744 Sushi 9. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TCCATCATCTCCCATGATACA 0.368000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 39 4 0 0 1 0 0 RAMP3 10268 broad.mit.edu 37 7 45222867 45222867 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:45222867C>T uc003tnb.3 + 2 364 c.303C>T c.(301-303)ttC>ttT p.F101F NM_005856 NP_005847 O60896 RAMP3_HUMAN Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA. 101 intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane|lysosome protein transporter activity breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 11 Pramlintide(DB01278) GGCAGTTCTTCTCCAACTGCA 0.607000 93 21 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50946068 50946068 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:50946068G>A uc009xog.3 - 17 2557 c.2523C>T c.(2521-2523)atC>atT p.I841I OGDHL_uc001jie.3_Silent_p.I814I|OGDHL_uc010qgt.2_Silent_p.I757I|OGDHL_uc010qgu.2_Silent_p.I605I NM_001143997 NP_001137469 Q9ULD0 OGDHL_HUMAN Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 814 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 AGTTGACCACGATCCAGTTGC 0.622000 210 8 0 0 1 0 0 AKAP12 9590 broad.mit.edu 37 6 151673660 151673660 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:151673660G>A uc011eep.2 + 3 4374 c.4134G>A c.(4132-4134)gtG>gtA p.V1378V AKAP12_uc003qoe.3_Silent_p.V1378V|AKAP12_uc003qof.3_Silent_p.V1280V|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Silent_p.V1273V NM_005100 NP_005091 Q02952 AKA12_HUMAN Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA. 1378 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) TCCAGACAGTGAATGTGCCCA 0.498000 38 7 0 0 1 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173879315 173879315 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:173879315G>A uc002uhv.4 + 17 1969 c.1782G>A c.(1780-1782)gaG>gaA p.E594E RAPGEF4_uc002uhw.4_Silent_p.E450E NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA. 594 N-terminal Ras-GEF. G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) TCCTGCAAGAGGATGACGTGT 0.502000 31 4 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159283652 159283652 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:159283652C>T uc010piu.2 - 0 798 c.798G>A c.(796-798)caG>caA p.Q266Q NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA. 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) CCAGGGAACTCTGGGACTTAG 0.527000 12 4 0 0 1 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84518338 84518338 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:84518338G>A uc010ffz.1 + 0 533 c.396G>A c.(394-396)aaG>aaA p.K132K Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA. CATTTGTGAAGAAAAATGTTC 0.448000 59 6 0 0 1 0 0 CES1 1066 broad.mit.edu 37 16 55862727 55862727 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:55862727G>A uc002eim.3 - 1 317 c.209C>T c.(208-210)cCt>cTt p.P70L CES1_uc002eil.3_Missense_Mutation_p.P71L|CES1_uc002ein.3_Missense_Mutation_p.P70L NM_001025194 NP_001020365 P23141 EST1_HUMAN Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA. 70 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) TGGTTCTGCAGGCTGCGGTGG 0.527000 107 6 0 0 1 0 0 C6orf70 55780 broad.mit.edu 37 6 170176145 170176145 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:170176145C>T uc003qxg.1 + 14 1537 c.1504C>T c.(1504-1506)Cgt>Tgt p.R502C C6orf70_uc011ehb.1_Missense_Mutation_p.R376C|C6orf70_uc003qxh.1_Missense_Mutation_p.R502C|C6orf70_uc010kky.1_Missense_Mutation_p.R376C|C6orf70_uc003qxi.1_Missense_Mutation_p.R150C NM_018341 NP_060811 Q5T6L9 CF070_HUMAN Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA. 502 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1) 20 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) GGACTTGGATCGTCTTCCTAC 0.388000 53 5 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17744272 17744272 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:17744272C>T uc011mix.2 + 6 2384 c.2046C>T c.(2044-2046)ttC>ttT p.F682F NHS_uc004cxx.3_Silent_p.F661F|NHS_uc004cxy.3_Silent_p.F505F|NHS_uc004cxz.3_Silent_p.F484F|NHS_uc004cya.3_Silent_p.F384F NM_001136024 NP_001129496 Q6T4R5 NHS_HUMAN Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA. 661 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) CCAGTGTTTTCGTGACAGAGC 0.512000 60 16 0 0 1 0 0 CD300C 10871 broad.mit.edu 37 17 72541018 72541018 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:72541018G>A uc002jky.1 - 1 491 c.130C>T c.(130-132)Cgc>Tgc p.R44C NM_006678 NP_006669 Q08708 CLM6_HUMAN Homo sapiens CD300c molecule (CD300C), mRNA. 44 Ig-like V-type. cellular defense response integral to plasma membrane transmembrane receptor activity p.R44C(2) endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1) 21 TTCTCATAGCGACACTGCACA 0.532000 64 10 0 0 1 0 0 ABCG2 9429 broad.mit.edu 37 4 89015796 89015796 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:89015796C>T uc003hrg.3 - 14 2246 c.1753G>A c.(1753-1755)Gaa>Aaa p.E585K ABCG2_uc003hrh.3_Missense_Mutation_p.M581I|ABCG2_uc003hrf.3_Missense_Mutation_p.E453K NM_004827 NP_004818 Q9UNQ0 ABCG2_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA. 585 ABC transmembrane type-2. cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) CCCAAAAATTCATTATGCTGC 0.388000 21 12 0 0 1 0 0 OFD1 8481 broad.mit.edu 37 X 13762615 13762615 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:13762615C>T uc004cvp.4 + 5 853 c.494C>T c.(493-495)tCg>tTg p.S165L OFD1_uc004cvr.4_5'UTR|OFD1_uc011mil.2_5'UTR|OFD1_uc004cvq.4_Missense_Mutation_p.S25L|OFD1_uc010nen.3_Missense_Mutation_p.S164L|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Missense_Mutation_p.S164L|OFD1_uc004cvv.4_Missense_Mutation_p.S164L|OFD1_uc010neo.1_5'Flank NM_003611 NP_003602 O75665 OFD1_HUMAN Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA. 165 G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding p.S165L(3) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 CAGACAAGTTCGACATTTAAC 0.299000 10 3 0 0 1 0 0 FZR1 51343 broad.mit.edu 37 19 3527686 3527686 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:3527686C>T uc010dtk.2 + 5 562 c.528C>T c.(526-528)ttC>ttT p.F176F FZR1_uc002lxt.2_Silent_p.F176F|FZR1_uc002lxv.2_Intron NM_001136198 NP_001129670 Q9UM11 FZR_HUMAN Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA. 176 DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm protein binding endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) AGATCCCCTTCAAGGTGCTGG 0.642000 21 8 0 0 1 0 0 CSRP3 8048 broad.mit.edu 37 11 19209754 19209755 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:19209754_19209755CC>TT uc001mpk.2 - 2 326_327 c.209_210GG>AA c.(208-210)ggg>gAA p.G70E NM_003476 NP_003467 P50461 CSRP3_HUMAN Homo sapiens cysteine and glycine-rich protein 3 (cardiac LIM protein) (CSRP3), transcript variant 1, mRNA. 70 Gly-rich. cell differentiation|skeletal muscle tissue development cytoskeleton|nucleus protein binding|zinc ion binding p.G70E(2) kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 CATACCCGATCCCTTTGGGGCC 0.604000 95 10 0 0 1 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41052574 41052574 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:41052574C>T uc003jmj.4 - 11 1713 c.1223G>A c.(1222-1224)aGg>aAg p.R408K HEATR7B2_uc003jmi.4_5'UTR NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 408 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 TACCAGATTCCTGTTCAACGT 0.388000 37 8 0 0 1 0 0 SEH1L 81929 broad.mit.edu 37 18 12984110 12984110 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:12984110C>T uc002krq.3 + 7 1129 c.991C>T c.(991-993)Cag>Tag p.Q331* SEH1L_uc002krr.3_Nonsense_Mutation_p.Q331* NM_001013437 NP_001013455 Q96EE3 SEH1_HUMAN Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA. 331 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|condensed chromosome kinetochore|cytosol central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 TGGGAGTTCTCAGCAGGGAAC 0.398000 53 5 0 0 1 0 0 PXDC1 221749 broad.mit.edu 37 6 3737388 3737388 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:3737388G>A uc003mvt.2 - 2 872 c.391C>T c.(391-393)Cct>Tct p.P131S NM_183373 NP_899229 Q5TGL8 CF145_HUMAN Homo sapiens PX domain containing 1 (PXDC1), mRNA. 131 PX. cell communication phosphatidylinositol binding TGATCCAGAGGAGATCTTTCG 0.433000 88 8 0 0 1 0 0 SOCS4 122809 broad.mit.edu 37 14 55510906 55510906 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:55510906C>T uc021rti.1 + 0 1147 c.1147C>T c.(1147-1149)Cgg>Tgg p.R383W SOCS4_uc001xbo.3_Missense_Mutation_p.R383W|SOCS4_uc001xbp.3_Missense_Mutation_p.R383W NM_199421 NP_955453 Q8WXH5 SOCS4_HUMAN Homo sapiens suppressor of cytokine signaling 4 (SOCS4), transcript variant 1, mRNA. 383 SOCS box. intracellular signal transduction|negative regulation of signal transduction|regulation of growth central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 14 TCCCTTAATTCGGACTTTCCC 0.423000 55 7 0 0 1 0 0 WDR88 126248 broad.mit.edu 37 19 33623218 33623218 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:33623218C>T uc002nui.3 + 0 221 c.143C>T c.(142-144)tCg>tTg p.S48L NM_173479 NP_775750 Q6ZMY6 WDR88_HUMAN Homo sapiens WD repeat domain 88 (WDR88), mRNA. 48 breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) TTCAAGCTGTCGATCCCGCAC 0.657000 110 13 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106791255 106791255 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:106791255C>T uc021ser.1 - 619 c.17137G>A Parts of antibodies, mostly variable regions. CAGGGACCTCCCAGGCTGGAC 0.592000 99 5 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10080268 10080268 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:10080268C>T uc002mmq.1 - 55 4167 c.4081G>A c.(4081-4083)Ggg>Agg p.G1361R NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 1361 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CCAGGGATCCCTCGAAGACCC 0.662000 21 3 0 0 1 0 0 PKIG 11142 broad.mit.edu 37 20 43243233 43243233 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:43243233C>T uc002xmg.3 + 4 565 c.36C>T c.(34-36)atC>atT p.I12I PKIG_uc002xmh.3_Silent_p.I12I|PKIG_uc002xmi.3_Silent_p.I12I NM_181805 NP_861521 Q9Y2B9 IPKG_HUMAN Homo sapiens protein kinase (cAMP-dependent, catalytic) inhibitor gamma (PKIG), transcript variant 1, mRNA. 12 cAMP-dependent protein kinase inhibitor activity|protein binding p.I12I(2) breast(1)|urinary_tract(1) 2 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189) CGGACTTCATCTCCTGTGACC 0.617000 85 7 0 0 1 0 0 MAN1A1 4121 broad.mit.edu 37 6 119669722 119669722 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:119669722C>T uc003pym.1 - 1 951 c.509G>A c.(508-510)gGc>gAc p.G170D MAN1A1_uc010kei.2_Missense_Mutation_p.G170D NM_005907 NP_005898 P33908 MA1A1_HUMAN Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA. 170 post-translational protein modification|protein N-linked glycosylation via asparagine ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) CGGGGGCAGGCCTCTGAACGG 0.632000 75 4 0 0 1 0 0 EPHA10 284656 broad.mit.edu 37 1 38227500 38227500 + Missense_Mutation SNP G T T rs45567442 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:38227500G>T uc009vvi.3 - 2 513 c.427C>A c.(427-429)Cgc>Agc p.R143S EPHA10_uc001cbw.4_Missense_Mutation_p.R143S NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA. 143 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCGCCTAGGCGGGGACGCCCA 0.657000 77 5 1 1 1 1 0 NCAPD3 23310 broad.mit.edu 37 11 134072794 134072794 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:134072794G>A uc001qhd.1 - 12 2138 c.1532C>T c.(1531-1533)tCc>tTc p.S511F NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript NM_015261 NP_056076 P42695 CNDD3_HUMAN Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA. 511 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CCTTTGGTAGGAAAAAGCTTT 0.353000 39 4 0 0 1 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150417929 150417929 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:150417929C>T uc003whq.3 + 2 977 c.837C>T c.(835-837)gcC>gcT p.A279A GIMAP1-GIMAP5_uc022apw.1_Intron NM_130759 NP_570115 Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA. TGGGCCTGGCCCTGCTGCTGG 0.711000 19 4 0 0 1 0 0 ZP1 22917 broad.mit.edu 37 11 60637241 60637241 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:60637241G>A uc001nqd.3 + 2 570 c.550G>A c.(550-552)Gac>Aac p.D184N ZP1_uc001nqe.3_5'Flank NM_207341 NP_997224 P60852 ZP1_HUMAN Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA. 184 single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CAGCCCACTGGACCCAGGGCA 0.627000 25 4 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21534491 21534491 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:21534491C>T uc002kuq.3 + 74 9967 c.9881C>T c.(9880-9882)cCt>cTt p.P3294L LAMA3_uc002kur.3_Missense_Mutation_p.P3238L|LAMA3_uc002kus.4_Missense_Mutation_p.P1685L|LAMA3_uc002kut.4_Missense_Mutation_p.P1629L NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 3294 Laminin G-like 5. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGAGGATCCCTGTGTGGAAA 0.453000 29 7 0 0 1 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30684753 30684753 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:30684753G>A uc003ahd.3 - 1 256 c.126C>T c.(124-126)ttC>ttT p.F42F TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Intron|TBC1D10A_uc003ahh.3_Non-coding_Transcript|TBC1D10A_uc003ahi.3_Intron|TBC1D10A_uc010gvq.3_Intron|TBC1D10A_uc010gvr.3_Intron|TBC1D10A_uc010gvs.2_Intron NM_001037666 NP_001032755 Q9BXI6 TB10A_HUMAN Homo sapiens GATS protein-like 3 (GATSL3), mRNA. 0 intracellular|microvillus PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CCGTCAGGCTGAAGAACTTGC 0.597000 29 5 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2592920 2592920 + Silent SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:2592920C>A uc002wgf.1 + 12 1692 c.1677C>A c.(1675-1677)gtC>gtA p.V559V TMC2_uc002wgg.1_Silent_p.V543V|TMC2_uc010zpw.1_Silent_p.V391V|TMC2_uc010zpx.1_Silent_p.V390V NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN Homo sapiens transmembrane channel-like 2 (TMC2), mRNA. 559 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 ACGAGAGTGTCCCCCGACCAC 0.493000 47 6 8.12818e-05 8.21453e-05 1 1 0 MICALL2 79778 broad.mit.edu 37 7 1481952 1481952 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:1481952G>A uc003skj.4 - 6 1734 c.1587C>T c.(1585-1587)tcC>tcT p.S529S MICALL2_uc003ski.4_Silent_p.S16S NM_182924 NP_891554 Q8IY33 MILK2_HUMAN Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA. 529 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) GGGGCAACGCGGATGCCTGAG 0.672000 119 10 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55349276 55349276 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55349276C>T uc002qhm.1 + 2 362 c.316C>T c.(316-318)Cac>Tac p.H106Y KIR3DL2_uc010yfj.2_Missense_Mutation_p.H99Y|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.H106Y|KIR3DL2_uc002qhn.1_Missense_Mutation_p.H53Y NM_012314 NP_036446 P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA. 201 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) TTCTGTTCCTCACTCCCCCTA 0.512000 271 38 0 0 1 0 0 TSPYL6 388951 broad.mit.edu 37 2 54482133 54482133 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:54482133C>T uc002rxr.2 - 0 1277 c.1156G>A c.(1156-1158)Gac>Aac p.D386N ACYP2_uc002rxq.4_Intron NM_001003937 NP_001003937 Q8N831 TSYL6_HUMAN Homo sapiens TSPY-like 6 (TSPYL6), mRNA. 386 nucleosome assembly nucleus NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2) 20 CTATGGGCGTCTTCACCCAAC 0.517000 69 5 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323007 79323007 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:79323007C>T uc010mpk.3 - 7 4307 c.4183G>A c.(4183-4185)Gag>Aag p.E1395K PRUNE2_uc022bih.1_Missense_Mutation_p.E1217K NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 1395 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCTGGTTCCTCGGTTTGAGGA 0.463000 20 6 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101693824 101693824 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:101693824G>A uc001tia.1 + 13 1816 c.1660G>A c.(1660-1662)Gga>Aga p.G554R NM_014503 NP_055318 O75691 UTP20_HUMAN Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA. 554 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 TGTTGACAAAGGAAGCTTTGG 0.418000 101 5 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3228060 3228060 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:3228060C>T uc004crg.4 - 6 8341 c.8184G>A c.(8182-8184)gtG>gtA p.V2728V NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2728 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GATAGGCGATCACAATCACGG 0.607000 20 4 0 0 1 0 0 TOP1MT 116447 broad.mit.edu 37 8 144398199 144398199 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:144398199G>A uc003yxz.3 - 10 1447 c.1428C>T c.(1426-1428)ttC>ttT p.F476F TOP1MT_uc011lkd.2_Silent_p.F378F|TOP1MT_uc011lke.2_Silent_p.F378F|TOP1MT_uc011lkf.2_Silent_p.F271F NM_052963 NP_443195 Q969P6 TOP1M_HUMAN Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA. 476 DNA topological change chromosome|mitochondrial nucleoid ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) TCGACTTCTCGAACGTACTGG 0.607000 87 20 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122930713 122930713 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:122930713G>A uc001pyo.3 - 4 723 c.588C>T c.(586-588)ctC>ctT p.L196L HSPA8_uc009zbc.3_5'UTR|HSPA8_uc001pyp.3_Silent_p.L196L|HSPA8_uc010rzu.2_Silent_p.L119L|HSPA8_uc009zbd.2_Silent_p.L196L|HSPA8_uc010rzv.1_3'UTR NM_006597 NP_006588 P11142 HSP7C_HUMAN Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA. 196 Interaction with BAG1. cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding p.L196L(2) breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GGTCAAAGATGAGCACGTTTC 0.408000 36 5 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117808905 117808906 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:117808905_117808906GG>AA uc004bjj.4 - 16 5320_5321 c.4908_4909CC>TT c.(4906-4911)ttccgt>ttTTgt p.R1637C TNC_uc010mvf.3_Intron|TNC_uc022bmj.1_Missense_Mutation_p.R1274C NM_002160 NP_002151 P24821 TENA_HUMAN Homo sapiens tenascin C (TNC), mRNA. 1637 Fibronectin type-III 12. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 CAGGACAGACGGAAACCGTCTG 0.480000 18 3 0 0 1 0 0 SOX5 6660 broad.mit.edu 37 12 23696305 23696305 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:23696305G>A uc001rfw.3 - 12 1713 c.1611C>T c.(1609-1611)gtC>gtT p.V537V SOX5_uc001rfx.3_Silent_p.V524V|SOX5_uc001rfy.3_Silent_p.V416V|SOX5_uc001rfv.3_Silent_p.V151V|SOX5_uc010siv.2_Silent_p.V524V|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Silent_p.V489V NM_006940 NP_694534 P35711 SOX5_HUMAN Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA. 537 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 TTGACTCTGAGACTCCAGCAC 0.423000 67 5 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197427937 197427937 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:197427937C>T uc003fyc.2 - 6 991 c.808G>A c.(808-810)Gat>Aat p.D270N KIAA0226_uc003fyd.3_Missense_Mutation_p.D210N|KIAA0226_uc003fye.1_5'UTR|KIAA0226_uc003fyf.3_Missense_Mutation_p.D103N|KIAA0226_uc003fyg.3_Missense_Mutation_p.D263N NM_014687 NP_055502 Q92622 RUBIC_HUMAN Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA. 270 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) ATGGTTTGATCCTCTGCTGGT 0.512000 62 15 0 0 1 0 0 ZNF511 118472 broad.mit.edu 37 10 135123753 135123753 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:135123753C>T uc021qbf.1 + 2 362 c.320C>T c.(319-321)cCc>cTc p.P107L TUBGCP2_uc001lmg.1_5'Flank|TUBGCP2_uc010qvc.1_5'Flank|TUBGCP2_uc010qvd.1_5'Flank|TUBGCP2_uc009ybk.1_5'Flank|TUBGCP2_uc001lmh.1_Intron|ZNF511_uc001lmj.1_Missense_Mutation_p.P172L|ZNF511_uc001lml.1_Missense_Mutation_p.P172L NM_145806 NP_665805 Q8NB15 ZN511_HUMAN Homo sapiens zinc finger protein 511 (ZNF511), mRNA. 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) CACCTGTACCCCGCGGACTTC 0.507000 73 16 0 0 1 0 0 RRP9 9136 broad.mit.edu 37 3 51971732 51971732 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:51971732G>A uc003dbw.1 - 3 340 c.301C>T c.(301-303)Cgt>Tgt p.R101C NM_004704 NP_004695 O43818 U3IP2_HUMAN Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA. 101 Glu-rich. rRNA processing nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex RNA binding p.R101S(2) breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1) 21 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) TCAAATGCACGGGCCTCAGCC 0.622000 109 9 0 0 1 0 0 CXCR2 3579 broad.mit.edu 37 2 219000440 219000440 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:219000440C>T uc002vgz.2 + 3 1126 c.916C>T c.(916-918)Cac>Tac p.H306Y CXCR2_uc002vha.2_Missense_Mutation_p.H306Y|CXCR2_uc002vhb.2_Missense_Mutation_p.H306Y|CXCR2_uc021vwp.1_Missense_Mutation_p.H306Y NM_001168298 NP_001548 P25025 CXCR2_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA. 306 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 GGGCATCCTTCACAGCTGCCT 0.562000 96 15 0 0 1 0 0 P2RY8 286530 broad.mit.edu 37 X 1585248 1585248 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:1585248C>T uc022brv.1 - 0 204 c.204G>A c.(202-204)acG>acA p.T68T CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.T68T NM_178129 NP_835230 Q86VZ1 P2RY8_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA. 68 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCATCAGGTCCGTGACGCTCA 0.602000 T CRLF2 """B-ALL, Downs associated ALL""" 73 5 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14746042 14746042 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:14746042C>T uc003byy.3 + 6 1529 c.1077C>T c.(1075-1077)ttC>ttT p.F359F C3orf20_uc003byz.3_Silent_p.F237F|C3orf20_uc003bza.3_Silent_p.F237F|C3orf20_uc003byx.2_Nonsense_Mutation_p.Q311* NM_032137 NP_001171887 Q8ND61 CC020_HUMAN Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA. 359 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 ACCATCATTTCAGTCAGCATT 0.498000 179 18 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90349785 90349785 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:90349785G>A uc002bop.4 - 1 322 c.30C>T c.(28-30)tcC>tcT p.S10S NM_001150 NP_001141 P15144 AMPN_HUMAN Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA. 10 angiogenesis|cell differentiation|interspecies interaction between organisms ER-Golgi intermediate compartment|cytosol|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GGATGCCCAGGGACTTGGAAA 0.612000 27 16 0 0 1 0 0 SLC2A7 155184 broad.mit.edu 37 1 9085128 9085128 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:9085128G>A uc009vmo.1 - 1 57 c.57C>T c.(55-57)ctC>ctT p.L19L NM_207420 NP_997303 Q6PXP3 GTR7_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA. 19 integral to membrane|plasma membrane sugar transmembrane transporter activity p.R18W(1) NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) GCGTCGGCTGGAGCCGCTGTA 0.652000 31 7 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542672 14542672 + Missense_Mutation SNP G C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:14542672G>C uc010dln.3 - 0 928 c.474C>G c.(472-474)atC>atG p.I158M POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 158 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TGAGCATGACGATGAGATCCT 0.582000 126 18 0 0 1 0 0 ARHGDIA 396 broad.mit.edu 37 17 79827768 79827768 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:79827768C>T uc021uff.1 - 1 345 c.39G>A c.(37-39)caG>caA p.Q13Q AK293147_uc021ufe.1_5'Flank|ARHGDIA_uc002kbq.3_Silent_p.Q13Q|ARHGDIA_uc021ufg.1_Silent_p.Q13Q|ARHGDIA_uc010dig.2_Non-coding_Transcript NM_001185077 NP_004300 P52565 GDIR1_HUMAN Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), transcript variant 1, mRNA. 13 Rho protein signal transduction|anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction cytoskeleton|cytosol GTPase activator activity|Rho GDP-dissociation inhibitor activity|identical protein binding endometrium(1)|lung(1)|prostate(1) 3 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CCGCTGCAATCTGGGCCAGCT 0.632000 53 6 0 0 1 0 0 CLEC17A 388512 broad.mit.edu 37 19 14710878 14710878 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:14710878C>T uc010dzn.2 + 11 855 c.778C>T c.(778-780)Ccc>Tcc p.P260S CLEC17A_uc010dzo.2_Missense_Mutation_p.P260S|CLEC17A_uc002mzh.2_Missense_Mutation_p.P243S|CLEC17A_uc010xnt.2_Non-coding_Transcript|CLEC17A_uc010xnu.2_Intron NM_001204118 NP_001191047 Q6ZS10 CL17A_HUMAN Homo sapiens C-type lectin domain family 17, member A (CLEC17A), transcript variant 1, mRNA. 260 cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity AGGCTGGCTGCCCTTTGAGGG 0.527000 36 9 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88769151 88769151 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:88769151G>A uc001kee.2 + 11 2346 c.1142G>A c.(1141-1143)cGa>cAa p.R381Q AGAP11_uc001kef.3_Intron NM_133447 NP_597704 Q8TF27 AGA11_HUMAN Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA. 381 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding TCCCGTGTGCGATCTCTGGAG 0.537000 243 16 0 0 1 0 0 IYD 389434 broad.mit.edu 37 6 150690264 150690264 + Missense_Mutation SNP G C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:150690264G>C uc003qnx.2 + 0 237 c.97G>C c.(97-99)Gag>Cag p.E33Q IYD_uc003qnv.2_Missense_Mutation_p.E33Q|IYD_uc003qnu.2_Missense_Mutation_p.E33Q|IYD_uc003qnw.2_Non-coding_Transcript|IYD_uc010kik.2_5'UTR NM_001164694 NP_001158166 Q6PHW0 IYD1_HUMAN Homo sapiens iodotyrosine deiodinase (IYD), transcript variant 1, mRNA. 33 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) AAAGAAGGGGGAGCCTAGAAC 0.493000 108 6 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6202196 6202196 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:6202196G>A uc001amb.2 - 14 2539 c.2428C>T c.(2428-2430)Cgt>Tgt p.R810C CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA. 810 Helicase ATP-binding. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) ACCTTCATACGGAATACCTTC 0.592000 143 39 0 0 1 0 0 HJURP 55355 broad.mit.edu 37 2 234750006 234750006 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:234750006G>A uc002vvg.3 - 7 1486 c.1420C>T c.(1420-1422)Cct>Tct p.P474S HJURP_uc010znd.2_Missense_Mutation_p.P413S|HJURP_uc010zne.2_Missense_Mutation_p.P382S NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Homo sapiens Holliday junction recognition protein (HJURP), mRNA. 474 CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) AGGCCACCAGGACTCGCAGGA 0.537000 72 4 0 0 1 0 0 EIF2C4 192670 broad.mit.edu 37 1 36282515 36282515 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:36282515C>T uc001bzj.2 + 1 242 c.52C>T c.(52-54)Cgt>Tgt p.R18C NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA. 18 mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol RNA binding|protein binding p.R17H(1) breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GCCACCTCGTCGTCCTGGCCT 0.378000 104 22 0 0 1 0 0 NT5DC3 51559 broad.mit.edu 37 12 104190803 104190803 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:104190803G>A uc010swe.1 - 5 663 c.622C>T c.(622-624)Cat>Tat p.H208Y NM_001031701 NP_001026871 Q86UY8 NT5D3_HUMAN Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA. 208 hydrolase activity|metal ion binding NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 GTGTTTCCATGAGAGCTCTGC 0.527000 36 11 0 0 1 0 0 SPDYC 387778 broad.mit.edu 37 11 64940017 64940017 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:64940017G>A uc010rnz.2 + 4 457 c.457G>A c.(457-459)Gat>Aat p.D153N NM_001008778 NP_001008778 Q5MJ68 SPDYC_HUMAN Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA. 153 Speedy/Ringo box; Required for CDK- binding (By similarity). cell cycle nucleus protein kinase binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1) 16 GCACCAGAGGGATAAGCTTTG 0.592000 79 6 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32834595 32834595 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:32834595G>A uc004dda.1 - 5 764 c.520C>T c.(520-522)Cat>Tat p.H174Y DMD_uc004dcz.2_Missense_Mutation_p.H51Y|DMD_uc004dcy.1_Missense_Mutation_p.H170Y|DMD_uc004ddb.1_Missense_Mutation_p.H166Y|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.H166Y|DMD_uc010ngp.1_Missense_Mutation_p.H51Y|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 174 Actin-binding.|CH 2. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTATGACTATGGATGAGAGCA 0.408000 23 5 0 0 1 0 0 SCPEP1 59342 broad.mit.edu 37 17 55058509 55058509 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:55058509A>T uc002iuv.4 + 1 196 c.143A>T c.(142-144)gAt>gTt p.D48V SCPEP1_uc010dcl.3_Non-coding_Transcript|SCPEP1_uc010wnk.2_5'UTR NM_021626 NP_067639 Q9HB40 RISC_HUMAN Homo sapiens serine carboxypeptidase 1 (SCPEP1), mRNA. 48 proteolysis extracellular region serine-type carboxypeptidase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 14 Breast(9;2.86e-08) GTCCGCAAGGATGCCTACATG 0.502000 34 5 0 0 1 0 0 C2orf89 129293 broad.mit.edu 37 2 85097741 85097741 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:85097741G>A uc010ysl.2 - 1 366 c.277C>T c.(277-279)Ccc>Tcc p.P93S C2orf89_uc002sou.4_Missense_Mutation_p.P93S|C2orf89_uc010fgc.2_Missense_Mutation_p.P93S NM_001080824 NP_001074293 Q86V40 CB089_HUMAN Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA. 93 integral to membrane p.D92E(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3) 18 ATGGTATAGGGGTCTGTGAGA 0.557000 15 3 0 0 1 0 0 C9orf96 169436 broad.mit.edu 37 9 136265581 136265581 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:136265581G>A uc004cdk.3 + 11 1183 c.1122G>A c.(1120-1122)acG>acA p.T374T C9orf96_uc004cdl.3_Non-coding_Transcript NM_153710 NP_714921 Q8NE28 SGK71_HUMAN Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA. 374 ATP binding|protein kinase activity autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) TGGTGGTCACGACCATGGAGC 0.652000 56 6 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884937 24884937 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:24884937G>A uc001wpf.4 + 8 4300 c.3982G>A c.(3982-3984)Ggt>Agt p.G1328S NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 1328 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TGCTGGCTTTGGTCTCTATGT 0.597000 227 23 0 0 1 0 0 LIPF 8513 broad.mit.edu 37 10 90427414 90427414 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:90427414C>A uc001kfg.2 + 2 308 c.194C>A c.(193-195)cCt>cAt p.P65H LIPF_uc009xtk.3_Missense_Mutation_p.P65H|LIPF_uc001kfh.2_Missense_Mutation_p.P75H|LIPF_uc010qmt.2_Missense_Mutation_p.P75H|LIPF_uc010qmu.2_Missense_Mutation_p.P65H NM_004190 NP_004181 P07098 LIPG_HUMAN Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA. 65 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) AATAGAATTCCTTATGGGAAG 0.353000 57 7 0.0381472 0.0383905 1 1 0 EPPK1 83481 broad.mit.edu 37 8 144942907 144942907 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:144942907G>A uc003zaa.1 - 0 4528 c.4515C>T c.(4513-4515)gtC>gtT p.V1505V NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 1505 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCAGGGTGGTGACTGCGCTGA 0.677000 6 3 0 0 1 0 0 FAM48B2 170067 broad.mit.edu 37 X 24331359 24331359 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:24331359C>T uc011mjw.2 - 0 74 c.74G>A c.(73-75)aGa>aAa p.R25K NM_001136233 NP_001129705 P0C7V6 F48B2_HUMAN Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA. 25 breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1) 23 GTATCTCCTTCTAGGACGTCT 0.443000 53 8 0 0 1 0 0 PDCD1 5133 broad.mit.edu 37 2 242793446 242793446 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:242793446C>T uc002wcq.4 - 4 699 c.631G>A c.(631-633)Gag>Aag p.E211K PDCD1_uc010fzs.3_Missense_Mutation_p.E90K|PDCD1_uc010fzt.3_Non-coding_Transcript NM_005018 NP_005009 Q15116 PDCD1_HUMAN Homo sapiens programmed cell death 1 (PDCD1), mRNA. 211 T cell costimulation|apoptosis|humoral immune response|multicellular organismal development integral to membrane protein tyrosine phosphatase activity|signal transducer activity endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1) 8 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219) GAGGGGTCCTCCTTCTTTGAG 0.657000 35 7 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179562801 179562801 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:179562801C>T uc010pnp.2 + 2 957 c.439C>T c.(439-441)Cct>Tct p.P147S TDRD5_uc021pfm.1_Missense_Mutation_p.P147S|TDRD5_uc001gnf.2_Missense_Mutation_p.P147S|TDRD5_uc021pfn.1_Missense_Mutation_p.P147S NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 147 Lotus/OST-HTH 2. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 GGCGTTATCTCCTGTTCTTCT 0.433000 87 8 0 0 1 0 0 BTK 695 broad.mit.edu 37 X 100612548 100612548 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:100612548G>A uc010nno.2 - 12 1461 c.1228C>T c.(1228-1230)Cca>Tca p.P410S BTK_uc004ehf.2_Intron|BTK_uc010nnh.2_Non-coding_Transcript|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Non-coding_Transcript|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Non-coding_Transcript|BTK_uc010nnl.2_5'UTR|BTK_uc010nnm.2_5'UTR|BTK_uc004ehg.2_Missense_Mutation_p.P376S|BTK_uc010nnn.2_Intron|BTK_uc004ehh.1_Non-coding_Transcript|BTK_uc004ehi.3_Missense_Mutation_p.P376S NM_000061 NP_000052 Q06187 BTK_HUMAN Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA. 376 Protein kinase. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TGAGACACTGGATATTTGAGC 0.498000 Agammaglobulinemia, X-linked 27 6 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31376724 31376724 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:31376724C>T uc002wyc.3 + 6 1040 c.719C>T c.(718-720)cCc>cTc p.P240L DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Missense_Mutation_p.P240L|DNMT3B_uc002wye.3_Missense_Mutation_p.P240L|DNMT3B_uc010ztz.2_Missense_Mutation_p.P198L|DNMT3B_uc010zua.2_Missense_Mutation_p.P164L|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.P252L|DNMT3B_uc002wyg.3_5'Flank NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA. 240 Interaction with DNMT1 and DNMT3A.|PWWP. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCCTGGTGGCCCGCCATGGTG 0.567000 63 16 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123845802 123845802 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:123845802G>A uc001lfv.3 + 3 4147 c.3787G>A c.(3787-3789)Gct>Act p.A1263T TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.A1263T|TACC2_uc010qtv.2_Missense_Mutation_p.A1263T NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 1263 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AGACCCCAGAGCTCCTGGCGA 0.597000 61 7 0 0 1 0 0 GGT6 124975 broad.mit.edu 37 17 4461929 4461929 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:4461929G>A uc010vsc.2 - 3 941 c.881C>T c.(880-882)tCg>tTg p.S294L GGT6_uc010vsb.2_Missense_Mutation_p.S140L|GGT6_uc002fyd.4_Missense_Mutation_p.S288L|GGT6_uc002fyc.4_Missense_Mutation_p.S256L NM_001122890 NP_001116362 Q6P531 GGT6_HUMAN Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA. 288 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GGGCACAGCCGAGGGCACCTC 0.657000 25 4 0 0 1 0 0 FMOD 2331 broad.mit.edu 37 1 203316665 203316665 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:203316665G>A uc001gzr.3 - 1 870 c.734C>T c.(733-735)gCt>gTt p.A245V NM_002023 NP_002014 Q06828 FMOD_HUMAN Homo sapiens fibromodulin (FMOD), mRNA. 245 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) CTGCTCAAGAGCTGAGGGCAG 0.582000 101 7 0 0 1 0 0 ZNF75A 7627 broad.mit.edu 37 16 3367222 3367222 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:3367222C>T uc002cut.4 + 5 770 c.244C>T c.(244-246)Cag>Tag p.Q82* ZNF75A_uc002cuv.4_Non-coding_Transcript NM_153028 NP_694573 Q96N20 ZN75A_HUMAN Homo sapiens zinc finger protein 75a (ZNF75A), mRNA. 82 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(7)|prostate(1) 12 TGAAAATCATCAGCCTGTGTC 0.373000 57 11 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112437071 112437071 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:112437071C>T uc003pvu.2 - 35 5416 c.5107G>A c.(5107-5109)Gga>Aga p.G1703R LAMA4_uc003pvv.2_Missense_Mutation_p.G1696R|LAMA4_uc003pvt.2_Missense_Mutation_p.G1696R NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA. 1703 Laminin G-like 5. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) ACTACCTGTCCATTTTTCATG 0.398000 18 3 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58098016 58098016 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:58098016C>T uc003djj.2 + 17 2881 c.2716C>T c.(2716-2718)Cac>Tac p.H906Y FLNB_uc010hne.2_Missense_Mutation_p.H906Y|FLNB_uc003djk.2_Missense_Mutation_p.H906Y|FLNB_uc010hnf.2_Missense_Mutation_p.H906Y|FLNB_uc003djl.2_Missense_Mutation_p.H737Y|FLNB_uc003djm.2_Missense_Mutation_p.H737Y NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 906 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TGACTACTCTCACACGGTTAA 0.557000 86 10 0 0 1 0 0 ARID4B 51742 broad.mit.edu 37 1 235345538 235345538 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:235345538G>A uc021pks.1 - 19 3073 c.2696C>T c.(2695-2697)tCa>tTa p.S899L ARID4B_uc001hwq.3_Missense_Mutation_p.S899L|ARID4B_uc001hwr.3_Missense_Mutation_p.S813L|ARID4B_uc001hws.4_Missense_Mutation_p.S813L|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Missense_Mutation_p.S580L NM_001206794 NP_001193723 Q4LE39 ARI4B_HUMAN Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA. 899 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TGCCACTTCTGAAAATCCTGA 0.353000 83 5 0 0 1 0 0 LRRC41 10489 broad.mit.edu 37 1 46751328 46751328 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:46751328G>A uc001cpn.3 - 3 1245 c.1201C>T c.(1201-1203)Cgc>Tgc p.R401C LRRC41_uc010omb.2_Missense_Mutation_p.R401C|LRRC41_uc001cpo.1_Missense_Mutation_p.R401C NM_006369 NP_006360 Q15345 LRC41_HUMAN Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA. 401 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) TGACGGGTGCGAGCACCCTTC 0.552000 105 5 0 0 1 0 0 LMX1B 4010 broad.mit.edu 37 9 129458637 129458637 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:129458637C>T uc011maa.2 + 7 1135 c.1128C>T c.(1126-1128)ttC>ttT p.F376F LMX1B_uc004bqi.3_Silent_p.F365F|LMX1B_uc004bqj.3_Silent_p.F372F NM_001174146 NP_001167617 O60663 LMX1B_HUMAN Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA. 349 dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 15 GCGACTGCTTCCTCGGCTCCT 0.627000 Nail-Patella Syndrome 106 21 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65214781 65214781 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:65214781G>A uc010wqk.2 - 3 327 c.140C>T c.(139-141)cCt>cTt p.P47L HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.P47L|HELZ_uc010des.1_Missense_Mutation_p.P47L NM_014877 NP_055692 Homo sapiens helicase with zinc finger (HELZ), mRNA. NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CAATGGACAAGGCCCTGTGAA 0.458000 86 24 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31598275 31598275 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:31598275G>A uc002rnv.1 - 14 1652 c.1573C>T c.(1573-1575)Cag>Tag p.Q525* NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 525 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CCCAGCTTCTGAAGGACTGTC 0.567000 104 44 0 0 1 0 0 IGF2BP2 10644 broad.mit.edu 37 3 185407293 185407293 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:185407293G>A uc003fpo.3 - 5 606 c.527C>T c.(526-528)tCc>tTc p.S176F IGF2BP2_uc010hyi.3_Missense_Mutation_p.S119F|IGF2BP2_uc010hyj.3_Missense_Mutation_p.S113F|IGF2BP2_uc010hyk.3_Missense_Mutation_p.S40F|IGF2BP2_uc010hyl.3_Missense_Mutation_p.S113F|IGF2BP2_uc003fpp.3_Missense_Mutation_p.S176F|IGF2BP2_uc003fpq.3_Missense_Mutation_p.S181F NM_006548 NP_006539 Q9Y6M1 IF2B2_HUMAN Homo sapiens insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), transcript variant 1, mRNA. 176 anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 20 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) TTGCTCCCGGGAAGAGTGGTC 0.597000 228 21 0 0 1 0 0 ZNF554 115196 broad.mit.edu 37 19 2833937 2833937 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:2833937C>T uc002lwm.2 + 4 902 c.704C>T c.(703-705)tCa>tTa p.S235L ZNF554_uc002lwl.2_Missense_Mutation_p.S184L NM_001102651 NP_001096121 Q86TJ5 ZN554_HUMAN Homo sapiens zinc finger protein 554 (ZNF554), mRNA. 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTTGTTTTATCACAGGGAAGC 0.488000 88 19 0 0 1 0 0 ZGPAT 84619 broad.mit.edu 37 20 62366600 62366600 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:62366600C>T uc002ygk.3 + 5 1330 c.1141C>T c.(1141-1143)Ctg>Ttg p.L381L ZGPAT_uc002ygi.2_Silent_p.L361L|ZGPAT_uc010gkk.2_5'UTR|ZGPAT_uc010gkl.2_Silent_p.L361L|ZGPAT_uc002ygm.3_Silent_p.L352L|ZGPAT_uc002ygj.2_Silent_p.L361L|ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_5'Flank|ZGPAT_uc002ygp.4_5'Flank NM_032527 NP_115916 Q8N5A5 ZGPAT_HUMAN Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA. 381 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 14 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) TGTGGAGACCCTGCAGAAGCA 0.677000 26 4 0 0 1 0 0 CEACAM1 634 broad.mit.edu 37 19 43026277 43026277 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:43026277C>T uc002otv.3 - 2 637 c.502G>A c.(502-504)Gaa>Aaa p.E168K AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eii.3_5'Flank|CEACAM1_uc010eij.3_Missense_Mutation_p.E168K|CEACAM1_uc002otw.3_Missense_Mutation_p.E168K|CEACAM1_uc002otx.3_Missense_Mutation_p.E168K|CEACAM1_uc002oty.3_Missense_Mutation_p.E168K|CEACAM1_uc002otz.3_Missense_Mutation_p.E168K|CEACAM1_uc010eik.3_Intron|CEACAM1_uc002oua.3_Missense_Mutation_p.E168K|CEACAM1_uc002oub.3_Missense_Mutation_p.E168K|CEACAM1_uc002ouc.3_Missense_Mutation_p.E168K NM_001712 NP_001703 P13688 CEAM1_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA. 168 Ig-like C2-type 1. angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) GTCTCAGGTTCACAGGTGAAG 0.557000 180 16 0 0 1 0 0 MAN2C1 4123 broad.mit.edu 37 15 75651681 75651681 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:75651681G>A uc002bah.3 - 16 2064 c.2047C>T c.(2047-2049)Cgt>Tgt p.R683C MAN2C1_uc010bkk.3_Silent_p.F579F|MAN2C1_uc002baf.3_Silent_p.F678F|MAN2C1_uc002bag.3_Silent_p.F678F Q9NTJ4 MA2C1_HUMAN Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA. 664 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 CTTGCACTACGAACACAGGCT 0.622000 55 6 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11742594 11742594 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:11742594C>T uc002rbk.1 + 16 2892 c.2592C>T c.(2590-2592)acC>acT p.T864T GREB1_uc002rbo.1_Silent_p.T498T NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA. 864 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TTGAATCCACCCTTTCAGGAC 0.443000 161 18 0 0 1 0 0 ZBTB4 57659 broad.mit.edu 37 17 7365869 7365869 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:7365869G>A uc002ghc.4 - 3 2682 c.2432C>T c.(2431-2433)cCc>cTc p.P811L ZBTB4_uc002ghd.4_Missense_Mutation_p.P811L NM_001128833 NP_065950 Q9P1Z0 ZBTB4_HUMAN Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA. 811 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) GACATCCCCGGGCCTGGTGCC 0.672000 62 7 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234041402 234041402 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:234041402G>A uc001hvy.1 + 1 326 c.181G>A c.(181-183)Gag>Aag p.E61K NM_173508 NP_775779 Q8IY50 S35F3_HUMAN Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA. 0 transport integral to membrane p.V60L(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) GCGCTCCGTGGAGGATCTCAC 0.637000 65 4 0 0 1 0 0 SAMD14 201191 broad.mit.edu 37 17 48193050 48193050 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:48193050G>A uc002iqf.3 - 6 999 c.700C>T c.(700-702)Ccg>Tcg p.P234S SAMD14_uc002iqe.3_Missense_Mutation_p.P17S|SAMD14_uc002iqg.3_Missense_Mutation_p.P234S NM_174920 NP_777580 Q8IZD0 SAM14_HUMAN Homo sapiens sterile alpha motif domain containing 14 (SAMD14), mRNA. 234 breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 GGCAGGAACGGGGAGCCCCCT 0.642000 160 5 0 0 1 0 0 RAB4B 53916 broad.mit.edu 37 19 41289884 41289884 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:41289884C>T uc002opd.2 + 4 491 c.334C>T c.(334-336)Ccc>Tcc p.P112S RAB4B_uc002opc.2_Non-coding_Transcript|RAB4B_uc002ope.2_Intron|EGLN2_uc010ehd.3_5'UTR|RAB4B_uc002opf.2_Missense_Mutation_p.P138S NM_016154 NP_057238 P61018 RAB4B_HUMAN Homo sapiens RAB4B, member RAS oncogene family (RAB4B), mRNA. 112 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport intracellular|plasma membrane GTP binding|GTPase activity endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 11 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CCTGGCCAGCCCCAACATCGT 0.622000 42 7 0 0 1 0 0 PCDH1 5097 broad.mit.edu 37 5 141248975 141248975 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:141248975G>A uc003llp.3 - 1 179 c.62C>T c.(61-63)cCc>cTc p.P21L PCDH1_uc011dbf.2_5'UTR|PCDH1_uc003llq.3_Missense_Mutation_p.P21L NM_032420 NP_115796 Q08174 PCDH1_HUMAN Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA. 21 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CTCCATCCTGGGAGGCCCCAG 0.647000 27 4 0 0 1 0 0 ADH7 131 broad.mit.edu 37 4 100349074 100349074 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:100349074G>A uc003huv.2 - 4 697 c.456C>T c.(454-456)ttC>ttT p.F152F ADH7_uc021xqj.1_Silent_p.F160F NM_000673 NP_000664 P40394 ADH7_HUMAN Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA. 152 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) TGGTGTTCATGAAGTGGTGGA 0.433000 12 3 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658311 72658311 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:72658311C>A uc003txs.1 - 12 1601 c.673G>T c.(673-675)Gta>Tta p.V225L FKBP6_uc003twz.2_Intron Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA. gccacgcttactaatttcgac 0.522000 48 5 0.000602214 0.000607816 1 1 0 SRRM2 23524 broad.mit.edu 37 16 2817587 2817587 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:2817587C>T uc002crk.3 + 10 7607 c.7058C>T c.(7057-7059)gCc>gTc p.A2353V SRRM2_uc002crj.1_Missense_Mutation_p.A2257V|SRRM2_uc002crl.1_Missense_Mutation_p.A2353V|SRRM2_uc010bsu.1_Missense_Mutation_p.A2257V NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 2353 Ala-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GTGAATATTGCCGGCTCCAGA 0.627000 115 11 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134648888 134648888 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:134648888G>A uc021qbc.1 - 46 6765 c.6664C>T c.(6664-6666)Ctg>Ttg p.L2222L NM_001200049 NP_001186978 Q8IYW2 CJ092_HUMAN Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA. 383 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CAGGCCAGCAGGTGGGAGAAG 0.637000 61 5 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9069981 9069981 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9069981G>A uc002mkp.3 - 2 17669 c.17465C>T c.(17464-17466)tCc>tTc p.S5822F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5824 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTTCTGCTGGAAGTGATAAC 0.478000 33 5 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119320 38119320 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:38119320C>T uc003atr.3 + 6 1028 c.757C>T c.(757-759)Cga>Tga p.R253* TRIOBP_uc003atu.3_Nonsense_Mutation_p.R81*|TRIOBP_uc003atq.1_Nonsense_Mutation_p.R253*|TRIOBP_uc003ats.1_Nonsense_Mutation_p.R81* NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 253 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CAGTGGACCTCGAAGCACCAC 0.612000 19 4 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216373131 216373131 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:216373131C>A uc001hku.1 - 16 4036 c.3649G>T c.(3649-3651)Gat>Tat p.D1217Y USH2A_uc001hkv.3_Missense_Mutation_p.D1217Y NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 1217 Fibronectin type-III 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.D1217N(2) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACAGAAAAATCGTACTTGGCA 0.517000 HNSCC(13;0.011) 32 3 1 1 1 1 0 GLP1R 2740 broad.mit.edu 37 6 39040750 39040750 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:39040750G>A uc003ooj.4 + 5 682 c.622G>A c.(622-624)Gcc>Acc p.A208T GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript NM_002062 NP_002053 P43220 GLP1R_HUMAN Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA. 208 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) GTATAGCACAGCCGCCCAGCA 0.597000 62 12 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236894533 236894533 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:236894533G>A uc001hyf.2 + 7 820 c.616_splice c.e7-1 p.D206_splice ACTN2_uc001hyg.2_Splice_Site|ACTN2_uc009xgi.1_Splice_Site_p.D206_splice|ACTN2_uc010pxu.1_Splice_Site NM_001103 NP_001094 P35609 ACTN2_HUMAN Homo sapiens actinin, alpha 2 (ACTN2), mRNA. 206 Actin-binding.|CH 2. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TTTCATACAGGATGACCCCAT 0.378000 44 4 0 0 1 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24890227 24890227 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:24890227G>A uc001upj.3 + 1 147 c.86G>A c.(85-87)gGa>gAa p.G29E SPATA13_uc001upe.3_Non-coding_Transcript NM_178540 NP_848635 P0C862 C1T9A_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA. 29 Collagen-like 1. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) GGGCACCCTGGAATCCCTGGG 0.557000 44 11 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160093110 160093110 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:160093110C>T uc001fvc.3 + 3 417 c.285C>T c.(283-285)ttC>ttT p.F95F ATP1A2_uc001fvb.2_Silent_p.F95F|ATP1A2_uc010piz.1_5'Flank NM_000702 NP_000693 P50993 AT1A2_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA. 95 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GTCAGCTTTTCGGGGGGTTCT 0.602000 191 27 0 0 1 0 0 LRRC43 254050 broad.mit.edu 37 12 122676082 122676082 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:122676082G>A uc009zxm.3 + 5 1082 c.1057G>A c.(1057-1059)Gaa>Aaa p.E353K LRRC43_uc001ubw.4_Missense_Mutation_p.E168K|LRRC43_uc009zxn.3_Missense_Mutation_p.E114K NM_001098519 NP_689972 Q8N309 LRC43_HUMAN Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA. 353 Glu-rich. NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) TGAAGAAGGCGAAATGAATGA 0.552000 OREG0022219 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 76 9 0 0 1 0 0 ARHGDIG 398 broad.mit.edu 37 16 332476 332476 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:332476G>A uc002cgm.1 + 4 499 c.424G>A c.(424-426)Gag>Aag p.E142K LUC7L_uc021szo.1_Intron|PDIA2_uc002cgn.1_5'UTR|PDIA2_uc002cgo.1_5'Flank|PDIA2_uc010bqt.1_5'Flank NM_001176 NP_001167 Q99819 GDIR3_HUMAN Homo sapiens Rho GDP dissociation inhibitor (GDI) gamma (ARHGDIG), mRNA. 142 Rho protein signal transduction|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|cytosol GTPase activator activity|Rho GDP-dissociation inhibitor activity p.E142K(2) breast(1)|central_nervous_system(1)|large_intestine(1) 3 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) GGTCCACAGGGAGATTGTCAG 0.716000 24 10 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8197130 8197130 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:8197130C>T uc003wsh.4 - 2 2178 c.2178G>A c.(2176-2178)aaG>aaA p.K726K NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA. 726 ATP binding|non-membrane spanning protein tyrosine kinase activity CAGAGCTGCTCTTGTTCATTT 0.473000 55 10 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39765950 39765950 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:39765950C>T uc021olt.1 + 20 2617 c.2565C>T c.(2563-2565)atC>atT p.I855I MACF1_uc021ols.1_Silent_p.I855I|MACF1_uc001cdc.2_Silent_p.I855I|MACF1_uc001cda.1_Silent_p.I763I|MACF1_uc009vvq.1_5'UTR|MACF1_uc001cdb.1_5'UTR NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 855 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAAAAACCATCGTTCAGCTAA 0.433000 58 10 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48271366 48271366 + Missense_Mutation SNP C T T rs72648363 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:48271366C>T uc002iqm.3 - 24 1831 c.1705G>A c.(1705-1707)Ggc>Agc p.G569S NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 569 Triple-helical region. G -> R (in OI2A). axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding p.G569G(1) COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) CCAGGTGGGCCTGGGGGTCCG 0.612000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 67 5 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25897557 25897557 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:25897557C>T uc003xes.2 - 4 734 c.469G>A c.(469-471)Gaa>Aaa p.E157K DOCK5_uc003xek.3_Intron|EBF2_uc003xet.2_Missense_Mutation_p.E157K NM_022659 NP_073150 Q9HAK2 COE2_HUMAN Homo sapiens early B-cell factor 2 (EBF2), mRNA. 157 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) CACATCACTTCGTGCGTCAGG 0.587000 122 24 0 0 1 0 0 SRPX 8406 broad.mit.edu 37 X 38033466 38033466 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:38033466G>A uc004ddy.2 - 2 428 c.296C>T c.(295-297)tCc>tTc p.S99F SRPX_uc011mki.2_Missense_Mutation_p.S99F|SRPX_uc004ddz.2_Missense_Mutation_p.S79F|SRPX_uc011mkh.2_Missense_Mutation_p.S99F NM_006307 NP_006298 P78539 SRPX_HUMAN Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA. 99 Sushi 1. cell adhesion cell surface|membrane autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 GATCAGTAGGGAAGAGCCATG 0.552000 32 5 0 0 1 0 0 PTGS1 5742 broad.mit.edu 37 9 125148990 125148990 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:125148990C>T uc004bmg.1 + 8 1410 c.1275C>T c.(1273-1275)ttC>ttT p.F425F PTGS1_uc011lys.1_Intron|PTGS1_uc010mwb.1_Intron|PTGS1_uc004bmf.1_Intron|PTGS1_uc004bmh.1_Silent_p.F316F|PTGS1_uc011lyt.1_Silent_p.F316F NM_000962 NP_000953 P23219 PGH1_HUMAN Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA. 425 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154) TGGATGCCTTCTCTCGCCAGA 0.582000 44 5 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19049239 19049239 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:19049239G>A uc002dfp.2 + 7 1179 c.1049G>A c.(1048-1050)aGg>aAg p.R350K TMC7_uc010vao.1_Silent_p.K344K|TMC7_uc002dfq.3_Missense_Mutation_p.R350K|TMC7_uc010vap.2_Missense_Mutation_p.R240K NM_024847 NP_079123 Q7Z402 TMC7_HUMAN Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA. 350 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 ATAGCAGAAAGGACCTCAGAA 0.403000 38 6 0 0 1 0 0 CPA3 1359 broad.mit.edu 37 3 148614415 148614415 + Missense_Mutation SNP C G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:148614415C>G uc003ewm.3 + 10 1227 c.1175C>G c.(1174-1176)tCc>tGc p.S392C NM_001870 NP_001861 P15088 CBPA3_HUMAN Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA. 392 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CTTCCAGAATCCCGGATAAAG 0.438000 41 3 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60348098 60348098 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:60348098C>T uc002ybn.2 + 3 524 c.436C>T c.(436-438)Ccg>Tcg p.P146S CDH4_uc002ybr.2_Missense_Mutation_p.P109S|CDH4_uc002ybp.2_Missense_Mutation_p.P72S NM_001794 NP_001785 P55283 CADH4_HUMAN Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA. 146 adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GGACCCCTCTCCGCCTCCGAA 0.602000 46 5 0 0 1 0 0 ABHD14B 84836 broad.mit.edu 37 3 52003569 52003569 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:52003569A>T uc003dcm.3 - 3 1394 c.506T>A c.(505-507)tTt>tAt p.F169Y PCBP4_uc003dcj.2_5'Flank|PCBP4_uc003dck.2_5'Flank|PCBP4_uc003dch.2_5'Flank|PCBP4_uc003dci.2_5'Flank|ABHD14B_uc011bdy.2_Missense_Mutation_p.F169Y|ABHD14B_uc021wza.1_Missense_Mutation_p.F131Y|ABHD14B_uc003dcn.3_Missense_Mutation_p.F169Y|ABHD14B_uc011bdz.1_3'UTR NM_032750 NP_116139 Q96IU4 ABHEB_HUMAN Homo sapiens abhydrolase domain containing 14B (ABHD14B), transcript variant 1, mRNA. 169 cytoplasm|nucleus hydrolase activity large_intestine(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072) CAGGTGCTCAAAGCTGGTCTG 0.597000 145 7 0 0 1 0 0 ARMCX5-GPRASP2 100528062 broad.mit.edu 37 X 101972234 101972234 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:101972234C>T uc022cbh.1 + 0 2437 c.2437C>T c.(2437-2439)Cgt>Tgt p.R813C ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.R813C NM_001199818 NP_001186747 Q96D09 GASP2_HUMAN Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA. 813 cytoplasm protein binding TTCTGCATTTCGTGAATTTGA 0.358000 65 25 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140846826 140846826 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:140846826C>T uc004cog.3 + 6 1212 c.1067C>T c.(1066-1068)tCg>tTg p.S356L CACNA1B_uc022bqn.1_Missense_Mutation_p.S356L NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 356 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity p.S356S(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GGCGTGCTCTCGGGGTGAGAG 0.612000 42 4 0 0 1 0 0 PTAFR 5724 broad.mit.edu 37 1 28477077 28477077 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:28477077G>A uc009vte.3 - 2 791 c.456C>T c.(454-456)ttC>ttT p.F152F PTAFR_uc021ojz.1_Silent_p.F152F|PTAFR_uc001bpl.3_Silent_p.F152F|PTAFR_uc001bpm.4_Silent_p.F152F|PTAFR_uc021oka.1_Silent_p.F152F NM_001164721 NP_001158195 P25105 PTAFR_HUMAN Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA. 152 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGATGAGGAAGTAGGATG 0.577000 68 6 0 0 1 0 0 GCOM1 145781 broad.mit.edu 37 15 57967172 57967172 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:57967172G>A uc002aei.3 + 11 1341 c.1210G>A c.(1210-1212)Gaa>Aaa p.E404K GCOM1_uc002aej.3_Missense_Mutation_p.E376K|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.E404K|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Intron|GCOM1_uc002aeq.3_Intron|GCOM1_uc002aen.3_Intron|GCOM1_uc010bfy.3_Intron|GCOM1_uc002aeo.3_Missense_Mutation_p.E404K|GCOM1_uc002aer.1_Non-coding_Transcript NM_001018100 NP_001018110 P0CAP1 GCOM1_HUMAN Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA. 404 intracellular signal transduction I band|extrinsic to internal side of plasma membrane endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 CCAGAATAATGAACTACAAAG 0.383000 24 12 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956158 18956158 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:18956158C>T uc001mpg.3 - 0 392 c.174G>A c.(172-174)agG>agA p.R58R NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA. 58 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AGAAGGCGTTCCTGCGCATGC 0.572000 167 11 0 0 1 0 0 KLF9 687 broad.mit.edu 37 9 73002723 73002723 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:73002723C>T uc004aht.3 - 1 1998 c.704G>A c.(703-705)cGa>cAa p.R235Q NM_001206 NP_001197 Q13886 KLF9_HUMAN Homo sapiens Kruppel-like factor 9 (KLF9), mRNA. 235 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 9 CTTTTTCGATCGCTTGATCAT 0.597000 54 5 0 0 1 0 0 MYBL1 4603 broad.mit.edu 37 8 67485678 67485678 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:67485678G>A uc003xwj.3 - 10 1941 c.1534C>T c.(1534-1536)Cct>Tct p.P512S MYBL1_uc003xwl.3_Missense_Mutation_p.P512S|MYBL1_uc003xwk.3_Missense_Mutation_p.P511S NM_001080416 NP_001073885 P10243 MYBA_HUMAN Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 1 (MYBL1), transcript variant 1, mRNA. 512 Negative regulatory domain (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1) 25 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) CCACAAATAGGGGTTGATGTA 0.343000 59 6 0 0 1 0 0 SLC8A2 6543 broad.mit.edu 37 19 47940747 47940747 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:47940747C>T uc010ele.3 - 6 2098 c.2082G>A c.(2080-2082)caG>caA p.Q694Q SLC8A2_uc002pgx.3_Silent_p.Q694Q|SLC8A2_uc010xyq.2_Silent_p.Q450Q|SLC8A2_uc010xyr.2_Silent_p.Q157Q Q9UPR5 NAC2_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA. 694 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCTCTAAAAACTGCTCCCTCC 0.512000 85 5 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43773539 43773539 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:43773539C>T uc002owd.4 - 0 144 c.45G>A c.(43-45)tgG>tgA p.W15* PSG9_uc002owe.4_Nonsense_Mutation_p.W15*|PSG9_uc010xwm.2_Nonsense_Mutation_p.W15*|PSG9_uc002owf.4_Nonsense_Mutation_p.W15*|PSG9_uc002owg.2_Nonsense_Mutation_p.W15* NM_002784 NP_002775 Q00887 PSG9_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA. 15 female pregnancy extracellular region p.W15R(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GGAGCCCCTTCCAGGTGATGC 0.617000 105 24 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2962271 2962271 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:2962271C>T uc003smv.3 - 16 2600 c.2266G>A c.(2266-2268)Gaa>Aaa p.E756K NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 756 T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GTCTCACCTTCGTGGTTGACC 0.627000 Mis DLBCL 48 12 0 0 1 0 0 HABP2 3026 broad.mit.edu 37 10 115341719 115341719 + Missense_Mutation SNP A C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:115341719A>C uc001lai.4 + 8 1026 c.923A>C c.(922-924)gAg>gCg p.E308A HABP2_uc021pyr.1_Missense_Mutation_p.E282A|HABP2_uc010qrz.1_Intron NM_004132 NP_001171131 Q14520 HABP2_HUMAN Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA. 308 cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) GAGATAGCAGAGAGGAAGATC 0.557000 92 5 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76511084 76511084 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:76511084G>A uc010dhp.2 - 25 4010 c.3885C>T c.(3883-3885)gaC>gaT p.D1295D NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGGTCTTCCAGTCCTCGATGC 0.433000 62 6 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149246955 149246955 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:149246955G>A uc002twm.4 + 12 4052 c.3055_splice c.e12-1 p.V1019_splice MBD5_uc010zbs.2_Splice_Site|MBD5_uc002two.3_Splice_Site_p.V277_splice|MBD5_uc002twp.3_Splice_Site_p.V69_splice NM_018328 NP_060798 Q9P267 MBD5_HUMAN Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA. 1019 chromosome|nucleus DNA binding|chromatin binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) TTTCTTCAAGGTGAGAATGCA 0.388000 21 5 0 0 1 0 0 CNNM4 26504 broad.mit.edu 37 2 97427864 97427864 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:97427864C>T uc002swx.3 + 0 1226 c.1128C>T c.(1126-1128)atC>atT p.I376I NM_020184 NP_064569 Q6P4Q7 CNNM4_HUMAN Homo sapiens cyclin M4 (CNNM4), mRNA. 376 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 TAGAGGATATCATGACCCAGC 0.517000 60 6 0 0 1 0 0 TRIM50 135892 broad.mit.edu 37 7 72738546 72738546 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:72738546G>A uc003txy.1 - 1 441 c.240C>T c.(238-240)ctC>ctT p.L80L FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Silent_p.L80L|TRIM50_uc003txz.1_Silent_p.L80L NM_178125 NP_835226 Q86XT4 TRI50_HUMAN Homo sapiens tripartite motif containing 50 (TRIM50), mRNA. 80 cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2) 20 GGTCCCCAGGGAGCCTCAGGG 0.687000 OREG0018105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 66 5 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175323630 175323630 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:175323630C>T uc001gkp.1 - 15 3360 c.3279G>A c.(3277-3279)tgG>tgA p.W1093* TNR_uc009wwu.1_Nonsense_Mutation_p.W1093* NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 1093 Fibronectin type-III 9. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CCAGTCGAATCCAGGTGTCTT 0.552000 25 4 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 75019046 75019046 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:75019046C>T uc001xqa.3 - 5 1630 c.1243G>A c.(1243-1245)Gaa>Aaa p.E415K NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 415 EGF-like 2. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CACCAGCATTCGTCCCTGCCG 0.652000 41 7 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48619044 48619044 + Missense_Mutation SNP G A A rs146418495 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:48619044G>A uc003ctz.2 - 48 4745 c.4744C>T c.(4744-4746)Cct>Tct p.P1582S COL7A1_uc021wxp.1_5'Flank NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 1582 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGTCTCCAGGAAGAACCAAG 0.567000 56 10 0 0 1 0 0 LZTS2 84445 broad.mit.edu 37 10 102763580 102763580 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:102763580C>T uc001ksj.3 + 2 895 c.725C>T c.(724-726)tCc>tTc p.S242F LZTS2_uc010qpw.2_Missense_Mutation_p.S242F|LZTS2_uc001ksk.3_Missense_Mutation_p.S242F|LZTS2_uc001ksl.3_Missense_Mutation_p.S242F|LZTS2_uc001ksm.3_Non-coding_Transcript NM_032429 NP_115805 Q9BRK4 LZTS2_HUMAN Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA. 242 Required for centrosomal localization (By similarity).|Ser-rich. Wnt receptor signaling pathway|cell division|mitosis membrane|microtubule|microtubule organizing center p.S242F(2)|p.S105F(1) breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) ACCACCAGCTCCCCAGGCGGG 0.697000 61 7 0 0 1 0 0 IFT88 8100 broad.mit.edu 37 13 21166519 21166519 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:21166519C>T uc001unh.3 + 8 797 c.401C>T c.(400-402)cCt>cTt p.P134L IFT88_uc001uni.3_Missense_Mutation_p.P125L|IFT88_uc001unj.3_Missense_Mutation_p.P124L|IFT88_uc010tcq.2_Missense_Mutation_p.P105L NM_175605 NP_006522 Q13099 IFT88_HUMAN Homo sapiens intraflagellar transport 88 homolog (Chlamydomonas) (IFT88), transcript variant 1, mRNA. 134 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) CCTGCTTCCCCTTTGGAAGCC 0.358000 16 6 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28196950 28196950 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:28196950G>A uc001zbh.4 - 17 2041 c.1931C>T c.(1930-1932)cCt>cTt p.P644L OCA2_uc010ayv.3_Missense_Mutation_p.P620L NM_000275 NP_000266 Q04671 P_HUMAN Homo sapiens oculocutaneous albinism II (OCA2), mRNA. 644 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding p.P644P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) ATGAATGCCAGGGACAAACGA 0.438000 Oculocutaneous Albinism 17 4 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82402474 82402474 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:82402474C>T uc001dit.4 + 4 531 c.350C>T c.(349-351)cCt>cTt p.P117L LPHN2_uc001dis.3_Missense_Mutation_p.P117L|LPHN2_uc001diu.3_Missense_Mutation_p.P117L|LPHN2_uc001div.3_Missense_Mutation_p.P117L|LPHN2_uc009wcd.3_Missense_Mutation_p.P117L NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 117 SUEL-type lectin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GATCCATGTCCTGGAACATAC 0.353000 25 7 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059395 152059395 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152059395C>T uc001ezo.1 - 2 828 c.763G>A c.(763-765)Gaa>Aaa p.E255K NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA. 255 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) AAGTTTCCTTCCTGTTCTCCA 0.433000 84 6 0 0 1 0 0 TDRKH 11022 broad.mit.edu 37 1 151748984 151748984 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:151748984G>A uc009wnb.1 - 6 1157 c.975C>T c.(973-975)atC>atT p.I325I TDRKH_uc001eyy.2_Silent_p.I101I|TDRKH_uc001ezb.4_Silent_p.I321I|TDRKH_uc001ezc.4_Silent_p.I280I|TDRKH_uc001eza.4_Silent_p.I325I|TDRKH_uc001ezd.4_Silent_p.I325I|TDRKH_uc010pdn.1_Silent_p.I101I NM_006862 NP_006853 Q9Y2W6 TDRKH_HUMAN Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA. 325 RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GGGAGCCAACGATCTGGATCC 0.498000 88 18 0 0 1 0 0 C17orf79 55352 broad.mit.edu 37 17 30179858 30179858 + Silent SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:30179858A>G uc002hgp.3 - 2 466 c.358T>C c.(358-360)Ttg>Ctg p.L120L C17orf79_uc010css.3_Non-coding_Transcript NM_018405 NP_060875 Q9NQ92 COPR5_HUMAN Homo sapiens chromosome 17 open reading frame 79 (C17orf79), mRNA. 120 histone H4-R3 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 5 all_cancers(10;4.54e-07)|all_hematologic(16;0.0216)|Acute lymphoblastic leukemia(14;0.0255)|Myeloproliferative disorder(56;0.0393)|Ovarian(249;0.1) TCTGCTTTCAACTCCGAGTCC 0.527000 116 13 0 0 1 0 0 CPNE9 151835 broad.mit.edu 37 3 9768817 9768817 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:9768817G>A uc021wst.1 + 19 1594 c.1423G>A c.(1423-1425)Gat>Aat p.D475N CPNE9_uc003bsd.3_Missense_Mutation_p.D474N NM_153635 NP_705899 Q8IYJ1 CPNE9_HUMAN Homo sapiens copine family member IX (CPNE9), mRNA. 475 VWFA. p.G474C(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) GTTGGACGGTGATGATGTGCG 0.597000 119 10 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77816807 77816807 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:77816807G>A uc003hki.3 - 0 2196 c.2196C>T c.(2194-2196)ttC>ttT p.F732F NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA. 732 GATAGACAGGGAAAATGGGCT 0.502000 276 21 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16577301 16577301 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:16577301G>A uc001ayg.3 - 9 2234 c.2018C>T c.(2017-2019)cCt>cTt p.P673L FBXO42_uc001ayf.3_Missense_Mutation_p.P580L NM_018994 NP_061867 Q6P3S6 FBX42_HUMAN Homo sapiens F-box protein 42 (FBXO42), mRNA. 673 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) GGTTTCAGGAGGTCCAACCAC 0.463000 184 21 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219292991 219292991 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:219292991C>T uc002vib.3 + 4 520 c.498C>T c.(496-498)ttC>ttT p.F166F VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Silent_p.F166F|VIL1_uc002vic.1_Silent_p.F166F NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 166 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity p.F166F(2) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGATGTTTTCCTCCTGGACC 0.547000 89 5 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183673091 183673091 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:183673091C>T uc003ivd.1 + 18 3843 c.3768C>T c.(3766-3768)gtC>gtT p.V1256V ODZ3_uc003ive.1_Silent_p.V669V NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1256 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) ATGCAGAAGTCGTCGCAGGGA 0.537000 33 9 0 0 1 0 0 HTRA1 5654 broad.mit.edu 37 10 124248979 124248979 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:124248979C>T uc001lgj.2 + 2 742 c.614C>T c.(613-615)tCt>tTt p.S205F NM_002775 NP_002766 Q92743 HTRA1_HUMAN Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA. 205 Serine protease. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) GCTAGTGGGTCTGGGTTTATT 0.493000 115 6 0 0 1 0 0 TTC30B 150737 broad.mit.edu 37 2 178415796 178415796 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:178415796G>A uc002uln.3 - 0 1729 c.1696C>T c.(1696-1698)Cga>Tga p.R566* TTC30B_uc010zfc.1_Nonsense_Mutation_p.R338* NM_152517 NP_689730 Q8N4P2 TT30B_HUMAN Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA. 566 cell projection organization cilium binding p.S565Y(1) cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) TTGATAACTCGAGAAATACCA 0.368000 105 12 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27877702 27877702 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:27877702G>A uc021ojw.1 - 0 925 c.925C>T c.(925-927)Ctg>Ttg p.L309L AHDC1_uc009vsy.3_Silent_p.L309L|AHDC1_uc009vsz.1_Silent_p.L309L|AHDC1_uc001boh.1_Silent_p.L182L NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA. 309 Pro-rich. DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) AGGCCCGGCAGCCCCAGAGGA 0.687000 21 12 0 0 1 0 0 ATXN7 6314 broad.mit.edu 37 3 63981841 63981841 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:63981841C>T uc003dlv.3 + 11 2896 c.2343C>T c.(2341-2343)acC>acT p.T781T ATXN7_uc003dlw.4_Silent_p.T781T|ATXN7_uc021wzy.1_Silent_p.T781T|ATXN7_uc011bfn.2_Silent_p.T636T NM_000333 NP_000324 O15265 ATX7_HUMAN Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA. 781 Ser-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) GCCCCCCCACCGGGAGCCCTG 0.532000 30 5 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74278019 74278019 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:74278019A>T uc002jrd.1 - 7 3871 c.3691T>A c.(3691-3693)Tat>Aat p.Y1231N QRICH2_uc010dgw.1_Missense_Mutation_p.Y75N NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN Homo sapiens glutamine rich 2 (QRICH2), mRNA. 1231 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 AGTTGCTCATAGCGCCGCACC 0.642000 38 7 0 0 1 0 0 TBC1D8 11138 broad.mit.edu 37 2 101654089 101654089 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:101654089C>T uc010fiv.3 - 7 1443 c.1312G>A c.(1312-1314)Gag>Aag p.E438K TBC1D8_uc010yvw.2_Missense_Mutation_p.E453K|TBC1D8_uc002tau.4_Missense_Mutation_p.E195K NM_001102426 NP_001095896 O95759 TBCD8_HUMAN Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA. 438 blood circulation|positive regulation of cell proliferation intracellular|membrane Rab GTPase activator activity|calcium ion binding p.E438*(1)|p.E453*(1) breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 TCACTCTCCTCGCTATTTTGA 0.537000 124 9 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53757636 53757636 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:53757636G>A uc003dgv.4 + 12 2005 c.1842G>A c.(1840-1842)ggG>ggA p.G614G CACNA1D_uc003dgu.4_Silent_p.G634G|CACNA1D_uc003dgy.4_Silent_p.G614G|CACNA1D_uc003dgw.4_Silent_p.G281G NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 614 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CTCCCCTGGGGATCTCTGTGT 0.473000 153 34 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152507129 152507129 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:152507129C>T uc021vrb.1 - 50 7215 c.7186G>A c.(7186-7188)Gat>Aat p.D2396N NEB_uc002txu.3_Missense_Mutation_p.D2396N|NEB_uc021vrc.1_Missense_Mutation_p.D2396N|NEB_uc010fnx.3_Missense_Mutation_p.D2396N|NEB_uc021vrd.1_Missense_Mutation_p.D2396N NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 2396 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGCACAACATCGTTCTGATCA 0.388000 40 8 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17743712 17743712 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:17743712C>T uc021uqk.1 - 27 3346 c.3304G>A c.(3304-3306)Gac>Aac p.D1102N NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA. 1103 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 CGATGCTTGTCGTGCTCTGGC 0.537000 37 6 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10438429 10438429 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:10438429C>T uc010coi.3 - 18 2269 c.2141G>A c.(2140-2142)gGa>gAa p.G714E AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.G714E|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 714 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCTTGGAAATCCTTTCCTACA 0.418000 29 4 0 0 1 0 0 AOAH 313 broad.mit.edu 37 7 36580017 36580017 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:36580017G>A uc022abu.1 - 15 1615 c.1214C>T c.(1213-1215)tCc>tTc p.S405F AOAH_uc003tfh.4_Missense_Mutation_p.S405F|AOAH_uc011kba.2_Missense_Mutation_p.S373F NM_001177506 NP_001170977 P28039 AOAH_HUMAN Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA. 405 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity p.S405F(2) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 GGGCAGGTGGGAATTTAGATG 0.463000 33 7 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61498624 61498624 + Nonsense_Mutation SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:61498624G>T uc002jal.4 + 24 5304 c.5281G>T c.(5281-5283)Gaa>Taa p.E1761* TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Nonsense_Mutation_p.E872* NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA. 1761 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CAACCCTAACGAAATCAAACC 0.507000 116 18 2.37509e-13 2.40979e-13 1 1 0 CCDC27 148870 broad.mit.edu 37 1 3686416 3686416 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:3686416G>A uc001akv.2 + 10 1894 c.1813G>A c.(1813-1815)Gag>Aag p.E605K LOC388588_uc001akw.4_5'Flank NM_152492 NP_689705 Q2M243 CCD27_HUMAN Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA. 605 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) CTTGGCCAACGAGATCTCTGA 0.557000 109 22 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49671746 49671746 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:49671746C>T uc002efs.3 - 4 1615 c.1317G>A c.(1315-1317)caG>caA p.Q439Q ZNF423_uc010vgn.2_Silent_p.Q322Q NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN Homo sapiens zinc finger protein 423 (ZNF423), mRNA. 439 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) ATGTGTGGCTCTGCTGGGGCT 0.572000 65 5 0 0 1 0 0 FAM46C 54855 broad.mit.edu 37 1 118166091 118166092 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:118166091_118166092CC>TT uc021osq.1 + 0 601_602 c.601_602CC>TT c.(601-603)ccc>TTc p.P201F FAM46C_uc001ehe.3_Missense_Mutation_p.P201F NM_017709 NP_060179 Q5VWP2 FA46C_HUMAN Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA. 201 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) TTCCAATAATCCCATCTCTGAG 0.480000 """Mis, F, O""" MM Multiple Myeloma(3;1.13e-06) 118 8 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49695396 49695396 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:49695396C>T uc003cxe.4 + 4 8521 c.8407C>T c.(8407-8409)Cct>Tct p.P2803S NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 2803 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) ACCCCTGTCCCCTCACCGGCT 0.622000 60 6 0 0 1 0 0 GSDMA 284110 broad.mit.edu 37 17 38126810 38126810 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:38126810G>A uc002htl.1 + 3 586 c.468G>A c.(466-468)gtG>gtA p.V156V GSDMA_uc002htm.1_Silent_p.V156V NM_178171 NP_835465 Q96QA5 GSDMA_HUMAN Homo sapiens gasdermin A (GSDMA), mRNA. 156 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 TGATGGAGGTGGTGGAGACGG 0.567000 10 5 0 0 1 0 0 CMTM7 112616 broad.mit.edu 37 3 32490978 32490978 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:32490978C>T uc003cey.1 + 2 602 c.366C>T c.(364-366)ctC>ctT p.L122L CMTM7_uc003cez.1_Intron NM_138410 NP_612419 Q96FZ5 CKLF7_HUMAN Homo sapiens CKLF-like MARVEL transmembrane domain containing 7 (CMTM7), transcript variant 1, mRNA. 122 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|large_intestine(1)|lung(2) 4 GTACCCTGCTCCTCCTCATCG 0.532000 99 7 0 0 1 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135098992 135098992 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:135098992G>A uc010qvc.1 - 12 2304 c.1947C>T c.(1945-1947)atC>atT p.I649I TUBGCP2_uc001lmf.1_Silent_p.I214I|TUBGCP2_uc001lmg.1_Silent_p.I621I|TUBGCP2_uc010qvd.1_Silent_p.I491I|TUBGCP2_uc009ybk.1_Intron|TUBGCP2_uc001lmh.1_Non-coding_Transcript NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA. 621 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) GCCACTTGACGATGTAGTCGA 0.627000 46 6 0 0 1 0 0 COPZ2 51226 broad.mit.edu 37 17 46110610 46110610 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:46110610G>A uc002imy.3 - 5 334 c.321C>T c.(319-321)ttC>ttT p.F107F NM_016429 NP_057513 Q9P299 COPZ2_HUMAN Homo sapiens coatomer protein complex, subunit zeta 2 (COPZ2), mRNA. 109 intracellular protein transport|vesicle-mediated transport COPI vesicle coat|cis-Golgi network lung(3)|upper_aerodigestive_tract(1) 4 CCACGTATAGGAAGAGGTCAA 0.488000 15 4 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50944432 50944432 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:50944432C>T uc009xog.3 - 19 2840 c.2806G>A c.(2806-2808)Gag>Aag p.E936K OGDHL_uc001jie.3_Missense_Mutation_p.E909K|OGDHL_uc010qgt.2_Missense_Mutation_p.E852K|OGDHL_uc010qgu.2_Missense_Mutation_p.E700K NM_001143997 NP_001137469 Q9ULD0 OGDHL_HUMAN Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 909 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GCCACTTTCTCCTCCAGGTCC 0.632000 121 6 0 0 1 0 0 PRKAA2 5563 broad.mit.edu 37 1 57169756 57169756 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:57169756G>A uc001cyk.4 + 6 972 c.901G>A c.(901-903)Gaa>Aaa p.E301K NM_006252 NP_006243 P54646 AAPK2_HUMAN Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA. 301 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding p.E301D(1) breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 TGAAAAATTTGAATGTACAGA 0.373000 110 6 0 0 1 0 0 SSTR3 6753 broad.mit.edu 37 22 37603572 37603572 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:37603572C>T uc003ara.3 - 1 333 c.271G>A c.(271-273)Gag>Aag p.E91K SSTR3_uc003arb.3_Missense_Mutation_p.E91K|SSTR3_uc021wos.1_Missense_Mutation_p.E91K NM_001051 NP_001042 P32745 SSR3_HUMAN Homo sapiens somatostatin receptor 3 (SSTR3), mRNA. 91 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 ATGAAGAGCTCGTCGGCCAGC 0.652000 77 17 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92257900 92257900 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:92257900C>T uc001pdj.4 + 1 3410 c.3393C>T c.(3391-3393)acC>acT p.T1131T NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 1131 Cadherin 10. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCTACTCCACCATTGAGGTCT 0.483000 TCGA Ovarian(4;0.039) 229 18 0 0 1 0 0 ALS2CR8 79800 broad.mit.edu 37 2 203825973 203825973 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:203825973C>T uc002uzo.2 + 7 936 c.656C>T c.(655-657)tCa>tTa p.S219L ALS2CR8_uc002uzn.3_Missense_Mutation_p.S117L|ALS2CR8_uc002uzm.3_Missense_Mutation_p.S219L|ALS2CR8_uc010zhy.1_Intron|ALS2CR8_uc010zhz.1_Intron|ALS2CR8_uc010ftu.1_Non-coding_Transcript|ALS2CR8_uc010zia.1_Missense_Mutation_p.S143L|ALS2CR8_uc010zib.1_Missense_Mutation_p.S143L|ALS2CR8_uc010zic.1_Missense_Mutation_p.S131L|ALS2CR8_uc002uzp.2_Missense_Mutation_p.S219L NM_001104586 NP_079020 Q8N187 AL2S8_HUMAN Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA. 219 p.S219L(2) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 20 ATTGGAGATTCATACCGTGGC 0.388000 221 15 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20986682 20986682 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:20986682G>A uc010vbe.2 - 50 8132 c.8132C>T c.(8131-8133)tCc>tTc p.S2711F DNAH3_uc010vbd.2_Missense_Mutation_p.S146F NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2711 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.T2710S(1) NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AGTTTCCTCGGAGGTGAGGAT 0.473000 129 17 0 0 1 0 0 BAHD1 22893 broad.mit.edu 37 15 40750676 40750676 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:40750676C>T uc001zlu.2 + 1 84 c.13C>T c.(13-15)Cgg>Tgg p.R5W BAHD1_uc001zlt.2_Missense_Mutation_p.R5W|BAHD1_uc010bbp.1_Missense_Mutation_p.R5W|BAHD1_uc001zlv.2_Missense_Mutation_p.R5W NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA. 5 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome DNA binding|chromatin binding|protein binding p.R5L(1) NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) GACACACACTCGGAGAAAGTC 0.597000 88 9 0 0 1 0 0 PAMR1 25891 broad.mit.edu 37 11 35461220 35461220 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:35461220G>A uc001mwf.3 - 8 1149 c.1106C>T c.(1105-1107)tCa>tTa p.S369L PAMR1_uc001mwg.3_Missense_Mutation_p.S352L|PAMR1_uc010rew.2_Missense_Mutation_p.S241L|PAMR1_uc010rex.2_Missense_Mutation_p.S312L NM_015430 NP_056245 Q6UXH9 PAMR1_HUMAN Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA. 352 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 CACCAGGTCTGAAATCTTTGG 0.438000 60 9 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121060540 121060540 + Silent SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:121060540C>A uc010rzo.2 + 21 6318 c.6318C>A c.(6316-6318)ctC>ctA p.L2106L NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 2106 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ATGGGCCTCTCTGCAGCTGTG 0.567000 53 4 1 1 1 1 0 ZNF574 64763 broad.mit.edu 37 19 42584584 42584584 + Missense_Mutation SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:42584584G>T uc002osk.4 + 1 2331 c.2096G>T c.(2095-2097)tGt>tTt p.C699F ZNF574_uc002osm.4_Missense_Mutation_p.C609F|ZNF574_uc021uva.1_Missense_Mutation_p.C609F NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN Homo sapiens zinc finger protein 574 (ZNF574), mRNA. 609 Ala-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) CCCTACAAGTGTCGCGAGTGC 0.647000 47 10 4.68919e-08 4.74937e-08 1 1 0 MYL1 4632 broad.mit.edu 37 2 211163214 211163214 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:211163214G>A uc002vec.3 - 2 363 c.234C>T c.(232-234)gtC>gtT p.V78V MYL1_uc002veb.3_Silent_p.V34V NM_079420 NP_524144 P05976 MYL1_HUMAN Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA. 78 EF-hand 1. muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) GAGCTCGAAGGACATCACCGA 0.468000 17 4 0 0 1 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18194861 18194861 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:18194861G>A uc001mnv.1 + 0 478 c.58G>A c.(58-60)Gag>Aag p.E20K NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA. 20 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 CGGACGTGAGGAGACTCCTTG 0.547000 95 15 0 0 1 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71187172 71187172 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:71187172C>T uc002shj.3 + 5 636 c.549C>T c.(547-549)atC>atT p.I183I ATP6V1B1_uc002shi.1_Silent_p.I183I|ATP6V1B1_uc010fdx.3_Silent_p.I141I NM_001692 NP_001683 P15313 VATB1_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA. 183 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 GCCAGAAGATCCCCATCTTCT 0.627000 69 6 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32233122 32233122 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:32233122C>T uc011alu.2 + 25 2537 c.2335C>T c.(2335-2337)Cca>Tca p.P779S DEPDC5_uc011als.2_Missense_Mutation_p.P701S|DEPDC5_uc003als.3_Missense_Mutation_p.P770S|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.P770S|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.P219S|DEPDC5_uc011alw.1_Missense_Mutation_p.P100S|DEPDC5_uc003alw.3_Missense_Mutation_p.P68S|DEPDC5_uc011alx.2_5'UTR NM_001242896 NP_001229825 O75140 DEPD5_HUMAN Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA. 770 intracellular signal transduction p.D778D(1) breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TGATCTCCTTCCAGAAGCAGA 0.532000 48 5 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236924440 236924440 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:236924440C>T uc001hyf.2 + 19 2697 c.2493C>T c.(2491-2493)gtC>gtT p.V831V ACTN2_uc001hyg.2_Silent_p.V623V|ACTN2_uc009xgi.1_Silent_p.V831V|ACTN2_uc010pxu.1_Silent_p.V520V NM_001103 NP_001094 P35609 ACTN2_HUMAN Homo sapiens actinin, alpha 2 (ACTN2), mRNA. 831 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CCGAGCAGGTCATCGCCTCCT 0.517000 52 7 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79462079 79462079 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:79462079C>T uc003hlb.2 + 73 12280 c.11840C>T c.(11839-11841)cCt>cTt p.P3947L NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 3942 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GAAGAATATCCTCTGAATACC 0.478000 46 8 0 0 1 0 0 TACR1 6869 broad.mit.edu 37 2 75425991 75425991 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:75425991G>A uc002sng.2 - 0 655 c.70C>T c.(70-72)Cag>Tag p.Q24* TACR1_uc002snh.3_Nonsense_Mutation_p.Q24* NM_001058 NP_001049 P25103 NK1R_HUMAN Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA. 24 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding p.Q24Q(1)|p.N23K(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1) 24 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) TGCACGAACTGATTGGGTTCC 0.532000 16 8 0 0 1 0 0 KANSL2 54934 broad.mit.edu 37 12 49065687 49065687 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:49065687G>A uc001rrz.2 - 3 1197 c.1153C>T c.(1153-1155)Cgt>Tgt p.R385C KANSL2_uc001rrw.2_Missense_Mutation_p.R7C|KANSL2_uc001rrx.2_Missense_Mutation_p.R202C|KANSL2_uc001rry.2_Non-coding_Transcript NM_017822 NP_060292 Q9H9L4 CL041_HUMAN Homo sapiens KAT8 regulatory NSL complex subunit 2 (KANSL2), mRNA. 202 GACTGCAAACGAATTAGCTTT 0.403000 88 14 0 0 1 0 0 SLC2A5 6518 broad.mit.edu 37 1 9101987 9101987 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:9101987G>A uc001apo.3 - 4 720 c.428C>T c.(427-429)tCc>tTc p.S143F SLC2A5_uc010nzy.2_Missense_Mutation_p.S84F|SLC2A5_uc010nzz.2_Missense_Mutation_p.S28F|SLC2A5_uc010oaa.2_Missense_Mutation_p.S99F|SLC2A5_uc010oac.2_Silent_p.F101F|SLC2A5_uc001app.4_Missense_Mutation_p.S143F NM_003039 NP_003030 P22732 GTR5_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA. 143 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GACCACGTTGGAAGATACACC 0.498000 19 3 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55505576 55505576 + Silent SNP C T T rs66498769 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:55505576C>T uc001cyf.2 + 0 428 c.66C>T c.(64-66)ctC>ctT p.L22L PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_5'Flank NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA. 22 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 tgctgctgctcctgGGTCCCG 0.706000 183 12 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 98996762 98996762 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:98996762G>A uc010fij.3 + 3 493 c.352G>A c.(352-354)Gaa>Aaa p.E118K CNGA3_uc002syt.3_Missense_Mutation_p.E114K|CNGA3_uc002syu.3_Missense_Mutation_p.E114K Q16281 CNGA3_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA. 114 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 GTCCAGCCAAGAAAGCAATGC 0.607000 55 7 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20648726 20648726 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:20648726G>A uc002dhm.1 - 7 1232 c.1164C>T c.(1162-1164)ttC>ttT p.F388F ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.F388F NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 388 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 CCTTCCCCATGAAACCCGGCT 0.537000 41 6 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49749975 49749975 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:49749975C>T uc003cxh.3 + 26 2646 c.2560C>T c.(2560-2562)Cgc>Tgc p.R854C RNF123_uc010hky.1_Missense_Mutation_p.R516C|RNF123_uc003cxi.3_Non-coding_Transcript NM_022064 NP_071347 Q5XPI4 RN123_HUMAN Homo sapiens ring finger protein 123 (RNF123), mRNA. 854 R -> H (in dbSNP:rs34823813). cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GCACGGTGATCGCACAGGGTC 0.582000 47 5 0 0 1 0 0 LY6G6F 259215 broad.mit.edu 37 6 31675320 31675320 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31675320C>T uc003nwb.1 + 1 138 c.138C>T c.(136-138)caC>caT p.H46H ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Silent_p.H46H NM_001003693 NP_001003693 Q5SQ64 LY66F_HUMAN Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA. 46 Ig-like V-type. integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4) 12 GGGACGAACACCTGTCATGGT 0.602000 309 53 0 0 1 0 0 HCFC2 29915 broad.mit.edu 37 12 104476364 104476364 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:104476364C>T uc001tkj.4 + 5 957 c.854C>T c.(853-855)tCa>tTa p.S285L HCFC2_uc009zul.3_Non-coding_Transcript NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN Homo sapiens host cell factor C2 (HCFC2), mRNA. 285 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 TGTACCAGTTCATTTTCTTAC 0.328000 19 4 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542880 14542880 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:14542880G>A uc010dln.3 - 0 720 c.266C>T c.(265-267)tCc>tTc p.S89F POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 89 p.S89Y(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 CTTCATAAAGGAGTTGTCATG 0.607000 122 9 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219292725 219292725 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:219292725G>A uc002vib.3 + 3 407 c.385G>A c.(385-387)Gtg>Atg p.V129M VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Missense_Mutation_p.V129M|VIL1_uc002vic.1_Missense_Mutation_p.V129M NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 129 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity p.V129V(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CATGAAGCACGTGGAGACCAA 0.612000 157 16 0 0 1 0 0 CYP4X1 260293 broad.mit.edu 37 1 47501699 47501699 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:47501699C>T uc001cqt.3 + 5 881 c.631C>T c.(631-633)Cct>Tct p.P211S CYP4X1_uc001cqr.3_Missense_Mutation_p.P210S|CYP4X1_uc001cqs.3_Missense_Mutation_p.P146S NM_178033 NP_828847 Q8N118 CP4X1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA. 211 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 CACCCATGATCCTTATGCAAA 0.373000 31 6 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66902294 66902294 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:66902294C>T uc002jhq.3 - 18 2629 c.2289G>A c.(2287-2289)aaG>aaA p.K763K ABCA8_uc002jhp.3_Silent_p.K723K|ABCA8_uc010wqq.2_Silent_p.K763K|ABCA8_uc010wqr.2_Silent_p.K702K|ABCA8_uc002jhr.3_Silent_p.K763K NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 723 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) TATCAAGATCCTTGTAAAGTT 0.313000 57 11 0 0 1 0 0 USP44 84101 broad.mit.edu 37 12 95918458 95918458 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:95918458G>A uc001teg.3 - 3 1875 c.1731C>T c.(1729-1731)ttC>ttT p.F577F USP44_uc001teh.3_Silent_p.F577F|USP44_uc009zte.3_Silent_p.F574F NM_001042403 NP_115523 Q9H0E7 UBP44_HUMAN Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA. 577 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 CTACAGACCTGAATCGTTTGA 0.388000 55 5 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46847694 46847694 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:46847694G>A uc003oyo.3 - 8 1186 c.897C>T c.(895-897)tcC>tcT p.S299S GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Silent_p.S299S|GPR116_uc010jzi.1_5'UTR|GPR116_uc003oyr.2_Silent_p.S299S NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 299 Ig-like 1. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) ACACATTGGAGGACAAAACTT 0.428000 15 5 0 0 1 0 0 PRKAG2 51422 broad.mit.edu 37 7 151372707 151372707 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:151372707G>A uc003wkk.3 - 3 1094 c.483C>T c.(481-483)tcC>tcT p.S161S PRKAG2_uc011kvl.2_Silent_p.S37S|PRKAG2_uc003wkj.3_Silent_p.S117S|PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Silent_p.S161S NM_016203 NP_077747 Q9UGJ0 AAKG2_HUMAN Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA. 161 ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1) 26 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) TTGACGGAGAGGAGGAGAGGC 0.582000 82 9 0 0 1 0 0 FOXM1 2305 broad.mit.edu 37 12 2983392 2983392 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:2983392G>A uc001qlf.3 - 1 536 c.253C>T c.(253-255)Cac>Tac p.H85Y TULP3_uc010sef.1_5'Flank|FOXM1_uc001qle.3_Missense_Mutation_p.H85Y|FOXM1_uc009zea.3_Missense_Mutation_p.H85Y|FOXM1_uc009zeb.3_Missense_Mutation_p.H85Y|FOXM1_uc001qlg.3_Missense_Mutation_p.H85Y|C12orf32_uc010see.2_5'Flank|C12orf32_uc001qlh.3_5'Flank|C12orf32_uc001qli.3_5'Flank NM_021953 NP_068772 Q08050 FOXM1_HUMAN Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA. 85 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) ATGATGCTGTGAATATTAGCA 0.512000 88 7 0 0 1 0 0 CDAN1 146059 broad.mit.edu 37 15 43023869 43023869 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:43023869G>A uc001zql.3 - 10 1805 c.1688C>T c.(1687-1689)aCc>aTc p.T563I CDAN1_uc001zqj.3_5'Flank|CDAN1_uc001zqk.3_5'UTR NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA. 563 integral to membrane protein binding endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) GCCTGGGAAGGTGGGGGGTGG 0.607000 76 7 0 0 1 0 0 PPP1R14D 54866 broad.mit.edu 37 15 41120711 41120711 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:41120711C>T uc001zmz.3 - 0 197 c.129G>A c.(127-129)ccG>ccA p.P43P PPP1R14D_uc001zmy.3_Silent_p.P43P NM_001130143 NP_001123615 Q9NXH3 PP14D_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14D (PPP1R14D), transcript variant 2, mRNA. 43 regulation of phosphorylation cytoplasm protein phosphatase inhibitor activity breast(1)|large_intestine(2)|lung(2)|skin(1) 6 all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) TGGAGGAGTCCGGGTGGGACT 0.607000 53 5 0 0 1 0 0 CCBE1 147372 broad.mit.edu 37 18 57103181 57103181 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:57103181C>T uc002lib.3 - 10 1250 c.1180G>A c.(1180-1182)Gag>Aag p.E394K CCBE1_uc010dpq.3_Missense_Mutation_p.E123K|CCBE1_uc002lia.3_Missense_Mutation_p.E247K NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA. 394 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) TCTCTTGTCTCAGTTCTTCTT 0.512000 203 20 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102056249 102056249 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:102056249G>A uc001tii.3 + 18 2211 c.2071G>A c.(2071-2073)Gag>Aag p.E691K MYBPC1_uc001tig.3_Missense_Mutation_p.E716K|MYBPC1_uc010svr.2_Missense_Mutation_p.E691K|MYBPC1_uc010svs.2_Missense_Mutation_p.E691K|MYBPC1_uc001tij.3_Missense_Mutation_p.E691K|MYBPC1_uc010svt.2_Missense_Mutation_p.E679K|MYBPC1_uc010svu.2_Missense_Mutation_p.E672K|MYBPC1_uc001tik.3_Missense_Mutation_p.E665K|MYBPC1_uc001tih.3_Missense_Mutation_p.E716K|MYBPC1_uc010svq.2_Missense_Mutation_p.E678K NM_206820 NP_996556 Q00872 MYPC1_HUMAN Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA. 691 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 TGTGGCCTATGAGGTCCGCAT 0.468000 63 6 0 0 1 0 0 ANO1 55107 broad.mit.edu 37 11 70031744 70031744 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:70031744C>T uc001opj.3 + 24 2942 c.2637C>T c.(2635-2637)atC>atT p.I879I ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc010rqk.2_Silent_p.I588I|ANO1_uc010rql.1_Silent_p.I53I NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA. 879 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 AGTACGACATCTCCAAGGACT 0.587000 77 5 0 0 1 0 0 SPIRE2 84501 broad.mit.edu 37 16 89924858 89924858 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:89924858C>T uc002foz.1 + 7 1267 c.1215C>T c.(1213-1215)ccC>ccT p.P405P SPIRE2_uc010civ.1_Silent_p.P320P|SPIRE2_uc010ciw.1_Silent_p.P405P|SPIRE2_uc002fpa.1_Silent_p.P357P|SPIRE2_uc010cix.1_Silent_p.P272P NM_032451 NP_115827 Q8WWL2 SPIR2_HUMAN Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA. 405 transport cytoplasm|cytoskeleton actin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) GCCCGCGGCCCCGCGTGCTGC 0.597000 83 7 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80789330 80789330 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:80789330C>T uc002kga.3 - 1 1312 c.1001G>A c.(1000-1002)aGa>aAa p.R334K TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN Homo sapiens zinc finger protein 750 (ZNF750), mRNA. 334 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGGTGGGAGTCTGAGACCATA 0.512000 195 22 0 0 1 0 0 IGLL3P 91353 broad.mit.edu 37 22 25714286 25714286 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:25714286C>T uc021wnj.1 + 0 c.63C>T Homo sapiens immunoglobulin lambda-like polypeptide 3, pseudogene (IGLL3P), non-coding RNA. cervix(1)|lung(4)|skin(1)|stomach(3) 9 GGGTTTCAATCCAAGCATAAT 0.617000 83 6 0 0 1 0 0 RGR 5995 broad.mit.edu 37 10 86008712 86008712 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:86008712C>T uc001kdd.1 + 2 321 c.283C>T c.(283-285)Cac>Tac p.H95Y RGR_uc001kdb.1_Missense_Mutation_p.S78L|RGR_uc001kdc.1_Missense_Mutation_p.H91Y|RGR_uc001kde.1_Missense_Mutation_p.H91Y NM_002921 NP_002912 P47804 RGR_HUMAN Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA. 91 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 17 CTGCCAGGCTCACGGCTTCCA 0.627000 54 5 0 0 1 0 0 CCDC54 84692 broad.mit.edu 37 3 107096546 107096546 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:107096546C>T uc003dwi.1 + 0 359 c.112C>T c.(112-114)Cgg>Tgg p.R38W NM_032600 NP_115989 Q8NEL0 CCD54_HUMAN Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA. 38 R -> Q (in dbSNP:rs709564). NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 ATGTAAGATTCGGCACCAAGA 0.403000 42 4 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112178722 112178722 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:112178722C>T uc003kpz.4 + 16 7624 c.7431C>T c.(7429-7431)tcC>tcT p.S2477S APC_uc011cvt.2_Silent_p.S2459S|APC_uc003kpy.4_Silent_p.S2477S|APC_uc010jbz.3_Silent_p.S2194S|APC_uc010jca.3_Silent_p.S1777S NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 2477 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CCACTAGGTCCCAGGCACAAA 0.458000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 20 5 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6188166 6188166 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:6188166C>T uc001amb.2 - 24 3954 c.3843G>A c.(3841-3843)atG>atA p.M1281I CHD5_uc001alz.2_Missense_Mutation_p.M138I|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA. 1281 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GGTACTCGTTCATGTTCTGTA 0.627000 41 4 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34070913 34070913 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:34070913C>T uc001bxm.1 - 41 6678 c.6501G>A c.(6499-6501)cgG>cgA p.R2167R CSMD2_uc001bxn.1_Silent_p.R2169R|CSMD2_uc001bxo.1_Silent_p.R1040R NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2169 Sushi 12. integral to membrane|plasma membrane protein binding p.G2166V(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGTCCCAGTTCCGGTTGGTGC 0.587000 36 4 0 0 1 0 0 YSK4 80122 broad.mit.edu 37 2 135745685 135745685 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:135745685G>A uc002tue.1 - 6 788 c.757C>T c.(757-759)Cgt>Tgt p.R253C YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.R140C|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_5'UTR|YSK4_uc002tui.4_Missense_Mutation_p.R270C NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA. 253 ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(221;0.112) TCAGATTGACGAACAGACACT 0.458000 73 5 0 0 1 0 0 CD22 933 broad.mit.edu 37 19 35832778 35832778 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:35832778G>A uc010edt.3 + 8 2029 c.1945G>A c.(1945-1947)Gtg>Atg p.V649M CD22_uc010edu.3_Missense_Mutation_p.V561M|CD22_uc010edv.3_Missense_Mutation_p.V649M|CD22_uc002nzb.4_Missense_Mutation_p.V472M|CD22_uc010xst.2_Missense_Mutation_p.V477M|CD22_uc010edx.3_Non-coding_Transcript NM_001771 NP_001762 P20273 CD22_HUMAN Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA. 649 Ig-like C2-type 6. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) ATTGGAGCCGGTGAAGGTCCA 0.607000 54 4 0 0 1 0 0 SMAD9 4093 broad.mit.edu 37 13 37453748 37453748 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:37453748C>T uc001uvw.3 - 1 422 c.79G>A c.(79-81)Gga>Aga p.G27R SMAD9_uc001uvx.3_Missense_Mutation_p.G27R|SMAD9_uc010tep.2_5'UTR NM_001127217 NP_001120689 O15198 SMAD9_HUMAN Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA. 27 MH1. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) TCTTCATCTCCTTGCTTCCAG 0.562000 66 10 0 0 1 0 0 POLR3A 11128 broad.mit.edu 37 10 79777367 79777367 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:79777367G>A uc001jzn.3 - 9 1530 c.1397C>T c.(1396-1398)cCc>cTc p.P466L NM_007055 NP_008986 O14802 RPC1_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA. 466 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GTGCAGCGAGGGCTGCCGATT 0.443000 47 10 0 0 1 0 0 NT5C1B-RDH14 100526794 broad.mit.edu 37 2 18736791 18736791 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:18736791A>G uc010exr.3 - 8 1731 c.1619T>C c.(1618-1620)cTt>cCt p.L540P NT5C1B-RDH14_uc002rcy.3_3'UTR|NT5C1B-RDH14_uc002rcx.4_Missense_Mutation_p.L226P NM_001199103 NP_001186032 Q96P26 5NT1B_HUMAN Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA. 0 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding CCTGGTAAAAAGAATGTTAGC 0.413000 65 6 0 0 1 0 0 MLL3 58508 broad.mit.edu 37 7 151878414 151878414 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:151878414C>T uc003wla.3 - 35 6750 c.6531G>A c.(6529-6531)caG>caA p.Q2177Q MLL3_uc003wkz.3_Silent_p.Q1238Q NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 2177 Pro-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GGGTTTGGGGCTGCTGACTAT 0.473000 N medulloblastoma 58 9 0 0 1 0 0 TRIM36 55521 broad.mit.edu 37 5 114483010 114483010 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:114483010C>T uc003kqs.3 - 2 889 c.380G>A c.(379-381)cGa>cAa p.R127Q TRIM36_uc011cwc.2_Missense_Mutation_p.R115Q|TRIM36_uc003kqt.3_5'UTR NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA. 127 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) ATTGATTCCTCGTTCTCCAAG 0.463000 78 12 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105945824 105945824 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:105945824C>T uc001kxw.3 - 14 2034 c.1918G>A c.(1918-1920)Gga>Aga p.G640R WDR96_uc009xxq.3_5'UTR|WDR96_uc001kxx.4_Missense_Mutation_p.G641R NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN Homo sapiens WD repeat domain 96 (WDR96), mRNA. 640 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AGTCCAGGTCCATACTGTCTG 0.378000 71 6 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142460757 142460757 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:142460757C>T uc003wak.2 + 4 647 c.630C>T c.(628-630)ctC>ctT p.L210L TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Silent_p.L150L NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 210 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) ATGGACAGCTCCAAGGAGTTG 0.498000 53 24 0 0 1 0 0 ZNF556 80032 broad.mit.edu 37 19 2878238 2878238 + Missense_Mutation SNP G A A rs35494032 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:2878238G>A uc002lwp.1 + 3 1369 c.1282G>A c.(1282-1284)Gaa>Aaa p.E428K ZNF556_uc002lwq.3_Missense_Mutation_p.E427K NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN Homo sapiens zinc finger protein 556 (ZNF556), mRNA. 428 E -> K (in dbSNP:rs35494032). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C427C(4) endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGTAAATGCGAAAAATGTGG 0.448000 109 30 0 0 1 0 0 ARSA 410 broad.mit.edu 37 22 51065086 51065086 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:51065086G>A uc003bna.4 - 3 791 c.529C>T c.(529-531)Ctg>Ttg p.L177L ARSA_uc021wsd.1_Silent_p.L263L|ARSA_uc021wse.1_Silent_p.L263L|ARSA_uc021wsf.1_Silent_p.L263L|ARSA_uc003bmz.4_Silent_p.L261L|ARSA_uc010hbf.3_3'UTR NM_001085428 NP_001078897 P15289 ARSA_HUMAN Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA. 261 lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) GCTGTCATCAGGGTCCCCACA 0.622000 42 4 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62121386 62121386 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:62121386G>A uc002jdz.2 - 21 3009 c.2896C>T c.(2896-2898)Cca>Tca p.P966S DQ572107_uc002jdy.1_5'Flank NM_001433 NP_001424 O75460 ERN1_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA. 966 activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 TGGGGCTCTGGGGGCTCGTGG 0.647000 168 21 0 0 1 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28296747 28296747 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:28296747C>T uc002ymg.3 - 7 3147 c.2418G>A c.(2416-2418)atG>atA p.M806I NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA. 806 Spacer. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 CGCTATAGTTCATGACTGTTC 0.443000 85 9 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38942419 38942419 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:38942419G>A uc003jlo.2 - 38 5208 c.5186C>T c.(5185-5187)tCt>tTt p.S1729F RICTOR_uc003jlp.2_Missense_Mutation_p.S1705F|RICTOR_uc010ivf.2_Missense_Mutation_p.S1382F NM_152756 NP_689969 Q6R327 RICTR_HUMAN Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA. 1705 T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade TORC2 complex|cytosol protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) GGATTCAGCAGATGTATCAAC 0.348000 18 5 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113662485 113662485 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:113662485G>A uc003ynu.3 - 18 3257 c.3098C>T c.(3097-3099)tCa>tTa p.S1033L CSMD3_uc003yns.3_Missense_Mutation_p.S305L|CSMD3_uc003ynt.3_Missense_Mutation_p.S993L|CSMD3_uc011lhx.2_Missense_Mutation_p.S929L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1033 Sushi 5. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ACAACTAAATGAAACAGTAGA 0.448000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 69 6 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12954351 12954351 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:12954351G>A uc002mvm.3 + 3 385 c.257G>A c.(256-258)gGa>gAa p.G86E MAST1_uc021upp.1_5'UTR NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA. 86 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 AGGGCGGACGGACGCCGGTGG 0.672000 63 5 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72308208 72308208 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:72308208G>A uc002jkf.3 + 11 1671 c.1561G>A c.(1561-1563)Gag>Aag p.E521K DNAI2_uc002jkg.3_Missense_Mutation_p.E509K|DNAI2_uc010dfp.3_Non-coding_Transcript|BX648926_uc002jkh.1_5'Flank|DNAI2_uc002jki.3_Non-coding_Transcript NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA. 521 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GCGGCTGAAGGAGAAGGGTAA 0.647000 Kartagener syndrome 38 11 0 0 1 0 0 RBM11 54033 broad.mit.edu 37 21 15599583 15599583 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:15599583T>G uc002yjo.4 + 4 857 c.815T>G c.(814-816)tTc>tGc p.F272C RBM11_uc002yjn.4_Missense_Mutation_p.F158C|RBM11_uc002yjp.4_Missense_Mutation_p.F158C NM_144770 NP_658983 P57052 RBM11_HUMAN Homo sapiens RNA binding motif protein 11 (RBM11), mRNA. 272 RNA binding|nucleotide binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) AGCCAAAAGTTCCGAAAGTCT 0.343000 26 3 0 0 1 0 0 KPTN 11133 broad.mit.edu 37 19 47986434 47986434 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:47986434G>A uc002pgy.3 - 3 537 c.433C>T c.(433-435)Cag>Tag p.Q145* KPTN_uc010xys.2_Non-coding_Transcript|LOC100505681_uc021uwo.1_5'Flank NM_007059 NP_008990 Q9Y664 KPTN_HUMAN Homo sapiens kaptin (actin binding protein) (KPTN), mRNA. 145 actin filament organization|cellular component movement|sensory perception of sound actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium actin binding breast(1)|lung(3)|ovary(2)|pancreas(2) 8 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) TGGCACAGCTGGAACGGAGTG 0.592000 200 8 0 0 1 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537318 5537318 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:5537318C>T uc001maz.4 - 0 639 c.354G>A c.(352-354)acG>acA p.T118T HBG1_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN Homo sapiens ubiquilin-like (UBQLNL), mRNA. 118 endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) AGGGATCATTCGTTGGCAGGT 0.547000 40 5 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458341 248458341 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:248458341G>A uc010pzj.2 - 0 540 c.540C>T c.(538-540)ccC>ccT p.P180P NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA. 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P180P(2)|p.A179A(1) endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) GCACCAACACGGGGGCCTCGC 0.562000 61 14 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167865909 167865909 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:167865909G>A uc001ger.3 - 6 961 c.663C>T c.(661-663)ccC>ccT p.P221P ADCY10_uc010plj.2_Silent_p.P68P|ADCY10_uc009wvk.3_Silent_p.P129P|ADCY10_uc009wvl.3_Silent_p.P220P|ADCY10_uc009wvm.2_Non-coding_Transcript NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 221 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction ATP binding|adenylate cyclase activity|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TAAAATTGGGGGGTGGTTTTA 0.328000 142 29 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24188792 24188792 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:24188792G>A uc003xdy.3 + 11 1316 c.1233G>A c.(1231-1233)ggG>ggA p.G411G ADAM28_uc003xdx.3_Silent_p.G411G|ADAM28_uc011kzz.2_Silent_p.G178G|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.G98G NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 411 Disintegrin. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CAATTTGTGGGAACCAGTTGG 0.408000 14 3 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55106623 55106623 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55106623G>A uc002qgh.1 + 4 599 c.417G>A c.(415-417)ggG>ggA p.G139G LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Silent_p.G139G NM_006863 NP_006854 O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA. 139 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CCTCAGGAGGGAACGTGACCC 0.542000 109 9 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228172560 228172560 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:228172560G>A uc002vom.2 + 47 4549 c.4387G>A c.(4387-4389)Ggg>Agg p.G1463R BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron|COL4A3_uc010fxf.2_5'UTR|COL4A3_uc021vxt.1_5'UTR NM_000091 NP_000082 Q01955 CO4A3_HUMAN Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA. 1463 Collagen IV NC1. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) ATGTCCAGAGGGGACAGTGCC 0.502000 40 9 0 0 1 0 0 C17orf101 79701 broad.mit.edu 37 17 80352305 80352305 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:80352305G>A uc002ket.2 - 8 1090 c.938C>T c.(937-939)cCg>cTg p.P313L C17orf101_uc010dip.2_Non-coding_Transcript|C17orf101_uc002keu.2_Intron NM_175902 NP_787098 Q6PK18 CQ101_HUMAN Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA. 0 integral to membrane L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 14 CCTCTCGGGCGGGTGGTGAGT 0.552000 133 16 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19335124 19335124 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:19335124C>T uc002nlz.3 + 4 759 c.660C>T c.(658-660)atC>atT p.I220I NCAN_uc010ecc.1_5'Flank NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 220 Link 1. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GGTATCCTATCACCCAGTCCC 0.577000 101 34 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212392 26212392 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:26212392C>T uc022buc.1 + 0 429 c.429C>T c.(427-429)tcC>tcT p.S143S MAGEB6_uc004dbr.3_Silent_p.S143S NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA. 143 Ser-rich. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 ATGATGTCTCCGTTCCTCAGG 0.527000 23 7 0 0 1 0 0 EIF2C2 27161 broad.mit.edu 37 8 141554381 141554382 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:141554381_141554382GG>AA uc003yvn.3 - 13 1810_1811 c.1769_1770CC>TT c.(1768-1770)ccc>cTT p.P590L EIF2C2_uc010meo.3_Missense_Mutation_p.P590L|EIF2C2_uc010men.3_Missense_Mutation_p.P513L NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA. 590 Piwi. mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 33 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) GAAAGATGACGGGCTGCTGGAA 0.649000 132 8 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74319525 74319525 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:74319525G>A uc011lsa.1 - 17 3720 c.3180C>T c.(3178-3180)ctC>ctT p.L1060L TMEM2_uc011lrz.1_Silent_p.L53L|TMEM2_uc010mos.2_Silent_p.L997L|TMEM2_uc011lsb.1_Non-coding_Transcript NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA. 1060 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TGAAGTTGACGAGGTATAGAA 0.428000 48 6 0 0 1 0 0 PHKB 5257 broad.mit.edu 37 16 47630437 47630437 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:47630437T>A uc002eev.4 + 12 1410 c.1358T>A c.(1357-1359)cTc>cAc p.L453H PHKB_uc002eeu.4_Missense_Mutation_p.L446H NM_000293 NP_000284 Q93100 KPBB_HUMAN Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA. 453 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) ATCGCAAAACTCCTGGGTAAG 0.378000 67 6 0 0 1 0 0 C1orf186 440712 broad.mit.edu 37 1 206240150 206240150 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:206240150G>A uc001hdt.1 - 4 941 c.302C>T c.(301-303)tCg>tTg p.S101L NM_001007544 NP_001007545 Q6ZWK4 CA186_HUMAN Homo sapiens chromosome 1 open reading frame 186 (C1orf186), mRNA. 101 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9 BRCA - Breast invasive adenocarcinoma(75;0.0754) GGCAGGAGGCGAACTGCAGGA 0.512000 58 6 0 0 1 0 0 HHAT 55733 broad.mit.edu 37 1 210577943 210577943 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:210577943C>T uc010psr.2 + 4 712 c.607C>T c.(607-609)Ccc>Tcc p.P203S HHAT_uc009xcx.3_Missense_Mutation_p.P202S|HHAT_uc010psq.2_Intron|HHAT_uc009xcy.3_Missense_Mutation_p.P137S|HHAT_uc010pss.2_Missense_Mutation_p.P157S|HHAT_uc010pst.2_Missense_Mutation_p.P139S|HHAT_uc001hhz.4_Missense_Mutation_p.P202S|HHAT_uc021pip.1_Missense_Mutation_p.P202S|HHAT_uc010psu.2_Missense_Mutation_p.P137S NM_001170587 NP_001164058 Q5VTY9 HHAT_HUMAN Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA. 202 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) CTACTCCTTTCCCTGGATGCT 0.562000 54 8 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2350101 2350101 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:2350101C>T uc002cpy.1 - 12 2228 c.1516G>A c.(1516-1518)Gaa>Aaa p.E506K ABCA3_uc010bsk.1_Missense_Mutation_p.E448K|ABCA3_uc010bsl.1_Missense_Mutation_p.E506K NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 506 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) TCACTGTCTTCTTCCTCCTTC 0.557000 116 9 0 0 1 0 0 NSUN5 55695 broad.mit.edu 37 7 72717957 72717957 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:72717957G>A uc003txw.3 - 7 1088 c.1011C>T c.(1009-1011)ttC>ttT p.F337F FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Silent_p.F337F|NSUN5_uc003txv.3_Silent_p.F337F|NSUN5_uc003txx.3_Silent_p.F299F NM_018044 NP_060514 Q96P11 NSUN5_HUMAN Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA. 337 methyltransferase activity breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Lung NSC(55;0.163) CTCGCTGCTGGAACCCTGCCA 0.627000 32 12 0 0 1 0 0 DENND1A 57706 broad.mit.edu 37 9 126433650 126433650 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:126433650C>T uc011lzm.1 - 5 491 c.277_splice c.e5-1 p.E93_splice DENND1A_uc004bny.1_Splice_Site|DENND1A_uc004bnz.1_Splice_Site_p.E125_splice|DENND1A_uc004boa.1_Splice_Site_p.E125_splice|DENND1A_uc004bob.1_Splice_Site_p.E95_splice|DENND1A_uc004boc.3_Splice_Site_p.E93_splice NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA. 125 DENN. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 CACTGATTTTCCTGAAAGAAA 0.502000 68 6 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121592 38121592 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:38121592C>T uc003atr.3 + 6 3300 c.3029C>T c.(3028-3030)tCc>tTc p.S1010F TRIOBP_uc003atu.3_Missense_Mutation_p.S838F|TRIOBP_uc003atq.1_Missense_Mutation_p.S1010F|TRIOBP_uc003ats.1_Missense_Mutation_p.S838F NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 1010 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CCTGAGCCCTCCCAGCCTCCA 0.637000 119 10 0 0 1 0 0 SLC17A7 57030 broad.mit.edu 37 19 49937004 49937004 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:49937004C>T uc002pnp.3 - 6 1018 c.846G>A c.(844-846)gcG>gcA p.A282A SLC17A7_uc002pnq.1_Silent_p.A215A|SLC17A7_uc002pno.3_5'UTR NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA. 282 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) TCATGAGTTTCGCGCTCTCTC 0.627000 36 10 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60901999 60901999 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:60901999G>A uc002ycq.3 - 38 5203 c.5136C>T c.(5134-5136)ctC>ctT p.L1712L LAMA5_uc021wfw.1_Silent_p.L1712L NM_005560 NP_005551 O15230 LAMA5_HUMAN Homo sapiens laminin, alpha 5 (LAMA5), mRNA. 1712 Laminin IV type A. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTTCATAACGGAGGGTCCCAC 0.612000 96 11 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169780258 169780258 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:169780258G>A uc002ueo.1 - 27 3966 c.3840C>T c.(3838-3840)atC>atT p.I1280I ABCB11_uc010zda.1_Silent_p.I698I|ABCB11_uc010zdb.1_Silent_p.I756I NM_003742 NP_003733 O95342 ABCBB_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA. 1280 ABC transporter 2. bile acid biosynthetic process Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism p.T1279T(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) CCGCGTTCTGGATGGTGGACA 0.507000 49 5 0 0 1 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140569 143140570 + Missense_Mutation DNP AG GA GA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:143140569_143140570AG>GA uc011ktg.2 + 0 24_25 c.24_25AG>GA c.(22-27)ctagga>ctGAga p.G9R LOC285965_uc003wda.3_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA. 9 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) ACATGGTTCTAGGATCTTCGGT 0.480000 69 4 0 0 1 0 0 ASB17 127247 broad.mit.edu 37 1 76387881 76387881 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:76387881G>A uc001dhe.2 - 1 705 c.565C>T c.(565-567)Cct>Tct p.P189S ASB17_uc001dhf.2_Non-coding_Transcript NM_080868 NP_543144 Q8WXJ9 ASB17_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA. 189 intracellular signal transduction breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 21 ACTCTCGAAGGGTAGAGTACT 0.363000 43 6 0 0 1 0 0 DALRD3 55152 broad.mit.edu 37 3 49055203 49055203 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:49055203G>A uc003cvk.1 - 2 581 c.561C>T c.(559-561)tcC>tcT p.S187S DALRD3_uc003cvl.1_Silent_p.S187S|DALRD3_uc003cvm.1_Silent_p.S20S|DALRD3_uc010hko.1_Silent_p.S20S|DALRD3_uc011bca.1_Silent_p.S187S|NDUFAF3_uc003cvn.3_5'Flank NM_001009996 NP_060584 Q5D0E6 DALD3_HUMAN Homo sapiens DALR anticodon binding domain containing 3 (DALRD3), transcript variant 1, mRNA. 187 arginyl-tRNA aminoacylation cytoplasm ATP binding|arginine-tRNA ligase activity breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GGGTGTGGGAGGAAGCTCTCT 0.627000 28 4 0 0 1 0 0 GTPBP1 9567 broad.mit.edu 37 22 39111957 39111957 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:39111957A>T uc003awg.3 + 2 504 c.350A>T c.(349-351)tAc>tTc p.Y117F NM_004286 NP_004277 O00178 GTPB1_HUMAN Homo sapiens GTP binding protein 1 (GTPBP1), mRNA. 117 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) GAGGCCTCCTACGCCACAGTG 0.597000 86 14 0 0 1 0 0 PYROXD2 84795 broad.mit.edu 37 10 100144800 100144800 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:100144800G>A uc001kpc.3 - 14 1665 c.1579C>T c.(1579-1581)Ctg>Ttg p.L527L PYROXD2_uc001kpb.3_Non-coding_Transcript NM_032709 NP_116098 Q8N2H3 PYRD2_HUMAN Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA. 527 oxidoreductase activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 12 AGCTGGTCCAGGGACATGGCG 0.607000 31 4 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65246568 65246568 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:65246568C>T uc001xht.3 - 19 4399 c.4348G>A c.(4348-4350)Gga>Aga p.G1450R SPTB_uc001xhr.3_Missense_Mutation_p.G1450R|SPTB_uc001xhs.3_Missense_Mutation_p.G1450R|SPTB_uc001xhu.3_Missense_Mutation_p.G1450R|SPTB_uc010aqi.3_Missense_Mutation_p.G111R NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 1450 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TCTGCATCTCCTCCCTCCTCT 0.572000 125 5 0 0 1 0 0 AASS 10157 broad.mit.edu 37 7 121773727 121773727 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:121773727C>T uc003vka.3 - 0 150 c.54G>A c.(52-54)aaG>aaA p.K18K AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Silent_p.K18K|AASS_uc011knw.2_Intron NM_005763 NP_005754 Q9UDR5 AASS_HUMAN Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA. 18 protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) GGTGAAGACCCTTGGAGAGGC 0.557000 70 15 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156814561 156814561 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:156814561C>T uc010pht.2 - 12 2811 c.2512G>A c.(2512-2514)Gag>Aag p.E838K NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 838 Fibronectin type-III 3. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TCTGGTGGCTCGAGCCAGCGC 0.627000 60 10 0 0 1 0 0 TTLL1 25809 broad.mit.edu 37 22 43442444 43442444 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:43442444T>C uc003bdi.3 - 9 1355 c.1114A>G c.(1114-1116)Aag>Gag p.K372E TTLL1_uc010gzh.3_Missense_Mutation_p.K343E|TTLL1_uc021wqt.1_Missense_Mutation_p.K334E|TTLL1_uc003bdj.3_Missense_Mutation_p.K258E NM_012263 NP_036395 O95922 TTLL1_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 1 (TTLL1), transcript variant 1, mRNA. 372 protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1) 23 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) AGGACTTCCTTAGGTGGCGAC 0.498000 152 5 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103488468 103488468 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:103488468G>A uc001dum.3 - 7 1429 c.1111C>T c.(1111-1113)Cta>Tta p.L371L COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Silent_p.L359L|COL11A1_uc001dun.3_Silent_p.L320L|COL11A1_uc009weh.3_Intron NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 359 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTTTCATATAGTGTATCCTCA 0.313000 23 16 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124335585 124335585 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:124335585G>A uc001uft.4 + 33 5924 c.5899G>A c.(5899-5901)Gag>Aag p.E1967K NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1967 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GCAGATCTGTGAGATCATGCT 0.647000 57 7 0 0 1 0 0 PRR19 284338 broad.mit.edu 37 19 42813931 42813931 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:42813931C>T uc002oti.3 + 1 573 c.195C>T c.(193-195)acC>acT p.T65T PRR19_uc002oth.1_Silent_p.T65T|PRR19_uc002otj.3_Silent_p.T65T NM_199285 NP_954979 A6NJB7 PRR19_HUMAN Homo sapiens proline rich 19 (PRR19), mRNA. 65 NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 10 Prostate(69;0.00682) TGGTCATAACCCAGGGCCGGC 0.637000 130 20 0 0 1 0 0 NEU2 4759 broad.mit.edu 37 2 233897394 233897394 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:233897394C>T uc010zmn.2 + 0 13 c.13C>T c.(13-15)Cct>Tct p.P5S NM_005383 NP_005374 Q9Y3R4 NEUR2_HUMAN Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA. 5 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) GGCGTCCCTTCCTGTCCTGCA 0.617000 140 10 0 0 1 0 0 ASCC2 84164 broad.mit.edu 37 22 30189431 30189431 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:30189431C>T uc003agr.3 - 16 1981 c.1837G>A c.(1837-1839)Gag>Aag p.E613K ASCC2_uc011akr.2_Missense_Mutation_p.E537K|ASCC2_uc003ags.3_Non-coding_Transcript NM_032204 NP_115580 Q9H1I8 ASCC2_HUMAN Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA. 613 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) TACTCATCCTCGTAGTAGACA 0.602000 37 5 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213921659 213921659 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:213921659C>T uc002vem.3 - 3 473 c.304G>A c.(304-306)Gag>Aag p.E102K IKZF2_uc010fuu.3_Intron|IKZF2_uc002vej.3_Missense_Mutation_p.E49K|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.E102K|IKZF2_uc002vel.3_Missense_Mutation_p.E49K|IKZF2_uc010fuw.3_5'UTR|IKZF2_uc010fux.3_Intron|IKZF2_uc010fuy.3_Missense_Mutation_p.E102K|IKZF2_uc002ven.3_Missense_Mutation_p.E102K NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA. 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) ATTCCTCCCTCGCCTTGAAGC 0.512000 4 4 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145561870 145561870 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:145561870G>A uc001eob.1 + 9 1666 c.1558G>A c.(1558-1560)Gga>Aga p.G520R ANKRD35_uc010oyx.1_Missense_Mutation_p.G363R NM_144698 NP_653299 Q8N283 ANR35_HUMAN Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA. 520 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGTCATGGAGGGAGCCCTGGG 0.622000 182 23 0 0 1 0 0 RFX2 5990 broad.mit.edu 37 19 5997222 5997222 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:5997222G>A uc002meb.3 - 15 2131 c.1862C>T c.(1861-1863)tCc>tTc p.S621F RFX2_uc002mec.3_Missense_Mutation_p.S596F NM_000635 NP_000626 P48378 RFX2_HUMAN Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA. 621 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 GATCACCATGGAGCTGGGGAC 0.642000 18 5 0 0 1 0 0 TAF4 6874 broad.mit.edu 37 20 60589653 60589653 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:60589653G>A uc002ybs.3 - 1 1471 c.1471C>T c.(1471-1473)Cgc>Tgc p.R491C NM_003185 NP_003176 O00268 TAF4_HUMAN Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA. 491 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) GTGGCAGGGCGAGGCGCCATG 0.647000 28 11 0 0 1 0 0 KDSR 2531 broad.mit.edu 37 18 61018226 61018226 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:61018226G>A uc010dpw.3 - 5 659 c.504C>T c.(502-504)atC>atT p.I168I KDSR_uc010xem.2_Intron NM_002035 NP_002026 Q06136 KDSR_HUMAN Homo sapiens 3-ketodihydrosphingosine reductase (KDSR), mRNA. 168 3-keto-sphinganine metabolic process endoplasmic reticulum membrane|extracellular space|integral to membrane 3-dehydrosphinganine reductase activity|binding endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 9 ACACAAACACGATCCTGCCCA 0.547000 93 5 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19447897 19447897 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:19447897G>A uc001bbi.3 - 67 9931 c.9927C>T c.(9925-9927)ttC>ttT p.F3309F UBR4_uc001bbk.1_Silent_p.F956F NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 3309 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CATCCACAAGGAAACTGACTT 0.582000 44 6 0 0 1 0 0 CCDC144NL 339184 broad.mit.edu 37 17 20799262 20799262 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:20799262C>T uc002gyf.3 - 0 192 c.72G>A c.(70-72)agG>agA p.R24R AK057473_uc002gyg.1_Intron|AK057473_uc002gyh.1_Intron NM_001004306 NP_001004306 Q6NUI1 C144L_HUMAN Homo sapiens coiled-coil domain containing 144 family, N-terminal like (CCDC144NL), mRNA. 24 large_intestine(3)|lung(3)|skin(1) 7 TAGGGGTCTTCCTCGTGGCGT 0.637000 OREG0024248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 5 0 0 1 0 0 PFKFB4 5210 broad.mit.edu 37 3 48573793 48573793 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:48573793G>A uc003ctv.3 - 7 753 c.736C>T c.(736-738)Cac>Tac p.H246Y PFKFB4_uc003ctx.3_Missense_Mutation_p.H203Y|PFKFB4_uc010hkb.3_Missense_Mutation_p.H246Y|PFKFB4_uc003ctw.3_Missense_Mutation_p.H55Y|PFKFB4_uc010hkc.3_Missense_Mutation_p.H246Y|PFKFB4_uc011bbm.2_Missense_Mutation_p.H235Y|PFKFB4_uc011bbn.1_Non-coding_Transcript NM_004567 NP_004558 Q16877 F264_HUMAN Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA. 246 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity p.I245T(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) GGGGTCACGTGGATGTTCATG 0.607000 142 12 0 0 1 0 0 C15orf55 256646 broad.mit.edu 37 15 34642915 34642915 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:34642915C>T uc010ucc.2 + 3 1202 c.820C>T c.(820-822)Cgt>Tgt p.R274C C15orf55_uc010ucd.2_Missense_Mutation_p.R264C|C15orf55_uc001zif.3_Missense_Mutation_p.R246C NM_175741 NP_786883 Q86Y26 NUT_HUMAN Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA. 246 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) large_intestine(2)|ovary(3)|skin(2) 7 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) CCCAGTGCTTCGTTCCCTGGC 0.557000 T """BRD3, BRD4""" lethal midline carcinoma 33 12 0 0 1 0 0 C6orf165 154313 broad.mit.edu 37 6 88127940 88127940 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:88127940C>T uc003plv.3 + 6 769 c.646C>T c.(646-648)Cat>Tat p.H216Y C6orf165_uc003plu.2_Missense_Mutation_p.H216Y|C6orf165_uc003plw.3_Missense_Mutation_p.H28Y|C6orf165_uc010kbv.2_Non-coding_Transcript NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA. 216 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGCTGTTCTCCATGTAGCAAT 0.448000 33 4 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237801675 237801675 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:237801675G>A uc001hyl.1 + 44 6931 c.6811G>A c.(6811-6813)Ggt>Agt p.G2271S NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 2271 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTATTTGGCTGGTTGTGGACT 0.408000 70 8 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124330318 124330318 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:124330318C>T uc001uft.4 + 29 5203 c.5178C>T c.(5176-5178)atC>atT p.I1726I NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1726 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TAACGCGCATCACCATGCCGC 0.463000 63 5 0 0 1 0 0 HDAC7 51564 broad.mit.edu 37 12 48181875 48181875 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:48181875G>A uc010slo.2 - 19 2503 c.2308C>T c.(2308-2310)Cgc>Tgc p.R770C HDAC7_uc001rqe.3_Missense_Mutation_p.R204C|HDAC7_uc001rqj.4_Missense_Mutation_p.R733C|HDAC7_uc001rqk.4_Missense_Mutation_p.R753C|HDAC7_uc010slp.2_5'UTR NM_015401 NP_056216 Q8WUI4 HDAC7_HUMAN Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA. 731 Histone deacetylase. negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) TCGTCATGGCGATGCAGGGAG 0.592000 80 5 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179631265 179631265 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:179631265C>T uc010pnp.2 + 14 2867 c.2349C>T c.(2347-2349)tgC>tgT p.C783C TDRD5_uc021pfm.1_Silent_p.C729C|TDRD5_uc001gnf.2_Silent_p.C729C|TDRD5_uc021pfn.1_Silent_p.C783C|TDRD5_uc001gnh.2_Silent_p.C284C NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 780 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 GAATGCCATGCCTGGAGTCAG 0.393000 26 6 0 0 1 0 0 FAM24A 118670 broad.mit.edu 37 10 124672371 124672371 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:124672371G>A uc001lgv.3 + 2 340 c.219G>A c.(217-219)atG>atA p.M73I NM_001029888 NP_001025059 A6NFZ4 FA24A_HUMAN Homo sapiens family with sequence similarity 24, member A (FAM24A), mRNA. 73 extracellular region large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 9 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141) CCACCACCATGGAGTCTTGTC 0.512000 23 6 0 0 1 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12942168 12942168 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12942168G>A uc001aun.2 - 2 453 c.382C>T c.(382-384)Ctc>Ttc p.L128F NM_001009611 NP_001009611 O60810 PRAM4_HUMAN Homo sapiens PRAME family member 4 (PRAMEF4), mRNA. 128 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTGGCATTGAGGAAGCACCCA 0.493000 175 62 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56088288 56088288 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:56088288G>A uc001shh.3 - 16 2528 c.2308C>T c.(2308-2310)Ctt>Ttt p.L770F ITGA7_uc001shg.3_Missense_Mutation_p.L766F|ITGA7_uc010sps.2_Missense_Mutation_p.L673F|ITGA7_uc009znw.3_Missense_Mutation_p.L13F|ITGA7_uc009znx.3_Missense_Mutation_p.L647F NM_001144996 NP_001138468 Q13683 ITA7_HUMAN Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA. 810 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GAGGTGCTAAGGATGAGGTAG 0.582000 31 5 0 0 1 0 0 USP11 8237 broad.mit.edu 37 X 47104261 47104261 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:47104261C>T uc004dhp.3 + 14 2153 c.2153C>T c.(2152-2154)aCc>aTc p.T718I USP11_uc004dhq.3_Missense_Mutation_p.T444I NM_004651 NP_004642 P51784 UBP11_HUMAN Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA. 718 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 CAGCTGTTCACCCTGCAGACG 0.607000 16 7 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92616090 92616090 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:92616090C>T uc001pdj.4 + 22 12485 c.12468C>T c.(12466-12468)atC>atT p.I4156I FAT3_uc001pdi.4_Silent_p.I596I NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 4156 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGGAGCTCATCGGCATCGCCG 0.592000 TCGA Ovarian(4;0.039) 505 42 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140640629 140640629 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:140640629G>A uc021xsg.1 - 4 4017 c.3265C>T c.(3265-3267)Cct>Tct p.P1089S MGST2_uc021xsf.1_Intron|MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.P552S NM_018717 NP_061187 Q96JK9 MAML3_HUMAN Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA. 1085 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) ACGTCCTGAGGGGCATTCCGC 0.617000 61 4 0 0 1 0 0 C10orf54 64115 broad.mit.edu 37 10 73511582 73511582 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:73511582G>A uc001jsd.3 - 5 882 c.741C>T c.(739-741)gcC>gcT p.A247A CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_Silent_p.A115A NM_022153 NP_071436 Q9H7M9 GI24_HUMAN Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA. 247 integral to membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 CAGGTGGTGAGGCTTCAAAGC 0.602000 54 7 0 0 1 0 0 OR10K2 391107 broad.mit.edu 37 1 158390494 158390494 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:158390494G>A uc010pii.2 - 0 163 c.163C>T c.(163-165)Ctt>Ttt p.L55F NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA. 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) GGGATATGAAGGGCCCTGTCC 0.502000 12 4 0 0 1 0 0 PRSS22 64063 broad.mit.edu 37 16 2904000 2904000 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:2904000G>A uc002cry.1 - 4 649 c.583C>T c.(583-585)Ctg>Ttg p.L195L NM_022119 NP_071402 Q9GZN4 BSSP4_HUMAN Homo sapiens protease, serine, 22 (PRSS22), mRNA. 195 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2) 10 AGCTTCTGCAGGGTCTGAGGG 0.582000 115 12 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108631794 108631794 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:108631794G>A uc022cch.1 - 13 2965 c.2880C>T c.(2878-2880)atC>atT p.I960I GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.I960I NM_001522 NP_001513 P51841 GUC2F_HUMAN Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA. 960 Guanylate cyclase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 CAGAGCTCAGGATATCTAAGG 0.498000 7 4 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57957965 57957965 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:57957965C>T uc001sor.1 + 3 574 c.366C>T c.(364-366)tcC>tcT p.S122S KIF5A_uc010srr.1_Intron NM_004984 NP_004975 Q12840 KIF5A_HUMAN Homo sapiens kinesin family member 5A (KIF5A), mRNA. 122 Kinesin-motor. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 ACATCTACTCCATGGATGAGA 0.517000 44 5 0 0 1 0 0 OR2H2 7932 broad.mit.edu 37 6 29556054 29556054 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:29556054C>T uc003nmr.1 + 0 372 c.333C>T c.(331-333)atC>atT p.I111I GABBR1_uc003nmp.4_Intron NM_007160 NP_009091 O95918 OR2H2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA. 111 defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 14 CTGAGTGCATCCTCTTGACAG 0.567000 100 8 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47991182 47991182 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:47991182G>A uc002xur.1 - 1 1081 c.915C>T c.(913-915)ctC>ctT p.L305L KCNB1_uc002xus.1_Silent_p.L305L NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 305 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TAAGGATGCGGAGAATTCGCA 0.532000 63 7 0 0 1 0 0 PIWIL1 9271 broad.mit.edu 37 12 130842030 130842030 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:130842030G>A uc001uik.3 + 13 1868 c.1597G>A c.(1597-1599)Gaa>Aaa p.E533K PIWIL1_uc001uij.2_Missense_Mutation_p.E533K NM_004764 NP_004755 Q96J94 PIWL1_HUMAN Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA. 533 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development P granule|chromatoid body mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) TTCTAGGATTGAAGTGGATGA 0.418000 24 4 0 0 1 0 0 KIAA0564 23078 broad.mit.edu 37 13 42161681 42161681 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:42161681C>T uc001uyj.3 - 41 5308 c.5238G>A c.(5236-5238)atG>atA p.M1746I NM_015058 NP_055873 A3KMH1 K0564_HUMAN Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA. 1746 VWFA. extracellular region ATP binding|ATPase activity endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) CGAAGGCTTCCATGACCATAC 0.483000 30 5 0 0 1 0 0 FKBP5 2289 broad.mit.edu 37 6 35588003 35588003 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:35588003C>T uc011dte.1 - 3 502 c.299G>A c.(298-300)gGa>gAa p.G100E FKBP5_uc003okx.2_Missense_Mutation_p.G100E|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Missense_Mutation_p.G100E|FKBP5_uc003okz.2_Missense_Mutation_p.G100E NM_001145776 NP_004108 Q13451 FKBP5_HUMAN Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA. 100 PPIase FKBP-type 1. protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 GCATATCTCTCCTTTCTTCAT 0.433000 56 4 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140188055 140188055 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140188055G>A uc003lhi.2 + 0 1384 c.1283G>A c.(1282-1284)cGa>cAa p.R428Q PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.R428Q|PCDHAC2_uc011daa.2_Missense_Mutation_p.R428Q NM_018907 NP_061730 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA. 442 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGACCGCGCGAGACGGGGGC 0.617000 107 21 0 0 1 0 0 VIPR2 7434 broad.mit.edu 37 7 158828674 158828674 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:158828674T>A uc003woh.3 - 7 964 c.778A>T c.(778-780)Act>Tct p.T260S VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript NM_003382 NP_003373 P41587 VIPR2_HUMAN Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA. 260 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CTGGCCGCAGTCCATGCACCG 0.607000 25 6 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140734913 140734913 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140734913C>T uc003ljq.2 + 0 146 c.146C>T c.(145-147)gCc>gTc p.A49V PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.A49V NM_018917 NP_061740 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA. 49 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCAACATCGCCAAGGACCTG 0.632000 67 15 0 0 1 0 0 OR56A3 390083 broad.mit.edu 37 11 5969438 5969438 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:5969438C>T uc010qzt.2 + 0 862 c.862C>T c.(862-864)Cct>Tct p.P288S NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA. 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCATGTCATTCCTGCAGCCCT 0.483000 55 5 0 0 1 0 0 SLC44A4 80736 broad.mit.edu 37 6 31839332 31839332 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31839332C>T uc010jti.3 - 7 602 c.536G>A c.(535-537)gGg>gAg p.G179E SLC44A4_uc011dol.2_Missense_Mutation_p.G103E|SLC44A4_uc011dom.2_Missense_Mutation_p.G137E NM_025257 NP_079533 Q53GD3 CTL4_HUMAN Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA. 179 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) AAAGCAGCGCCCCAGAGCTGG 0.662000 109 16 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520547 33520547 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:33520547C>T uc002hjd.2 - 0 866 c.780G>A c.(778-780)ggG>ggA p.G260G NM_152462 NP_689675 Q8N808 AMAC1_HUMAN Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA. 260 integral to membrane AGGCGAGGATCCCCACTGCCC 0.642000 93 19 0 0 1 0 0 HCAR1 27198 broad.mit.edu 37 12 123213939 123213939 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:123213939C>T uc001ucz.3 - 0 1191 c.948G>A c.(946-948)tcG>tcA p.S316S HCAR1_uc001ucw.1_Non-coding_Transcript NM_032554 NP_115943 Q9BXC0 HCAR1_HUMAN Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA. 316 response to estradiol stimulus integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1) 10 GACCGAGGTTCGAAATTGGCA 0.488000 115 13 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26707777 26707777 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:26707777G>A uc003acb.3 + 7 1921 c.1725G>A c.(1723-1725)ggG>ggA p.G575G SEZ6L_uc003acd.3_Silent_p.G575G|SEZ6L_uc011akd.2_Silent_p.G575G|SEZ6L_uc003ace.3_Silent_p.G575G|SEZ6L_uc011akc.2_Silent_p.G575G|SEZ6L_uc003acc.3_Silent_p.G575G|SEZ6L_uc003acf.1_Silent_p.G348G|SEZ6L_uc010gvc.1_Silent_p.G348G NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 575 Sushi 2. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 TCCAGAATGGGAACTTCACTA 0.562000 230 52 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371642 240371643 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:240371642_240371643CC>TT uc010pye.2 + 5 3767_3768 c.3542_3543CC>TT c.(3541-3543)ccc>cTT p.P1181L FMN2_uc010pyd.2_Missense_Mutation_p.P1177L NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 1177 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.P1180S(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCCCTCCGCCCCCTCTACCTG 0.688000 5 5 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147505304 147505304 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:147505304C>T uc003lox.2 + 28 2831 c.2758C>T c.(2758-2760)Cga>Tga p.R920* SPINK5_uc003loy.2_Nonsense_Mutation_p.R950* NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA. 920 Kazal-like 14. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTGAATTTCGAAACTATAT 0.408000 110 9 0 0 1 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499621 59499621 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:59499621G>A uc002agb.3 + 0 580 c.482G>A c.(481-483)cGa>cAa p.R161Q MYO1E_uc002aga.3_Intron NM_033195 NP_149972 Q9BYZ2 LDH6B_HUMAN Homo sapiens lactate dehydrogenase A-like 6B (LDHAL6B), mRNA. 161 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) TTAGTCCAGCGAAATGTGGCC 0.418000 109 31 0 0 1 0 0 C6orf203 51250 broad.mit.edu 37 6 107361101 107361101 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:107361101C>T uc011eaj.2 + 2 827 c.152C>T c.(151-153)tCt>tTt p.S51F C6orf203_uc003prq.3_Missense_Mutation_p.S46F|C6orf203_uc010kde.3_Missense_Mutation_p.S46F NM_001142470 NP_057571 Q9P0P8 CF203_HUMAN Homo sapiens chromosome 6 open reading frame 203 (C6orf203), transcript variant 3, mRNA. 46 large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1) 8 Breast(9;0.00124)|all_epithelial(6;0.0729) all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23) BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244) BRCA - Breast invasive adenocarcinoma(108;0.117) TTGTATTTTTCTAGTACCAAG 0.388000 85 7 0 0 1 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65207891 65207892 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:65207891_65207892GG>AA uc001xhp.2 + 15 2058_2059 c.2019_2020GG>AA c.(2017-2022)ctgggg>ctAAgg p.G674R PLEKHG3_uc001xhn.1_Missense_Mutation_p.G497R|PLEKHG3_uc001xho.1_Missense_Mutation_p.G553R|PLEKHG3_uc010aqh.1_Missense_Mutation_p.G95R|PLEKHG3_uc001xhq.1_Missense_Mutation_p.G58R NM_015549 NP_056364 A1L390 PKHG3_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA. 553 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) AGGGCCTTCTGGGGATGGACCC 0.584000 160 18 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150654410 150654410 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:150654410C>T uc003wic.3 - 4 1498 c.1097G>A c.(1096-1098)cGa>cAa p.R366Q KCNH2_uc003wib.3_5'Flank|KCNH2_uc011kux.2_Missense_Mutation_p.R270Q|KCNH2_uc003wid.3_5'Flank|KCNH2_uc003wie.3_Missense_Mutation_p.R366Q NM_000238 NP_000229 Q12809 KCNH2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA. 366 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) ATTGTGGGTTCGCTCCTTTAT 0.587000 11 3 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32279990 32279990 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:32279990G>A uc001bts.1 - 1 1003 c.945C>T c.(943-945)ctC>ctT p.L315L SPOCD1_uc001btu.3_Silent_p.L315L|SPOCD1_uc001btv.3_Intron NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA. 315 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CAGCTGAACTGAGGGACTCCC 0.637000 27 5 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100086093 100086093 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:100086093C>T uc003uvd.1 + 3 908 c.749C>T c.(748-750)gCc>gTc p.A250V NYAP1_uc003uve.1_Missense_Mutation_p.A32V NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA. 250 CCAGCGGGCGCCGACTCGGAC 0.652000 77 4 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10091780 10091780 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:10091780C>T uc002mmq.1 - 32 2575 c.2489G>A c.(2488-2490)gGa>gAa p.G830E NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 830 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TCCCCGCTCTCCTTCCAGGCC 0.522000 114 6 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179730620 179730620 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:179730620C>T uc002une.2 - 16 2716 c.2598G>A c.(2596-2598)aaG>aaA p.K866K CCDC141_uc002unf.1_Silent_p.K345K NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 291 Ig-like. protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GCTGTAGGTTCTTTGCAGAAA 0.478000 72 11 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121759141 121759141 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:121759141G>A uc003ksw.1 + 3 915 c.709G>A c.(709-711)Gag>Aag p.E237K SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.E237K|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.E284K|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.E237K NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 237 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) TGAAGAAACCGAGATCTCACC 0.458000 19 6 0 0 1 0 0 KBTBD10 10324 broad.mit.edu 37 2 170356074 170356074 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:170356074C>T uc010zdh.1 + 8 818 c.760C>T c.(760-762)Cac>Tac p.H254Y KBTBD10_uc002uet.3_Missense_Mutation_p.H254Y|KBTBD10_uc010fpw.3_Missense_Mutation_p.H233Y NM_152384 NP_689597 O60662 KBTBA_HUMAN Homo sapiens Bardet-Biedl syndrome 5 (BBS5), mRNA. 569 striated muscle contraction centrosome|nucleolus|plasma membrane|pseudopodium|ruffle p.K253N(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1) 19 CAATTCACTTCACAAAGTCTA 0.323000 59 4 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44064824 44064824 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:44064824A>G uc003bdy.2 - 15 2056 c.1742T>C c.(1741-1743)cTt>cCt p.L581P EFCAB6_uc003bdz.2_Missense_Mutation_p.L429P|EFCAB6_uc010gzi.2_Missense_Mutation_p.L429P|EFCAB6_uc010gzj.1_5'Flank|EFCAB6_uc010gzk.1_Non-coding_Transcript NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 581 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) CTTTGGAACAAGAACTGGAGA 0.403000 47 12 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142625246 142625246 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:142625246C>T uc003wby.1 - 6 1110 c.846G>A c.(844-846)gaG>gaA p.E282E TRPV5_uc003wbz.3_Silent_p.E282E NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA. 282 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) AGGAGTCGATCTCTGTGAGGT 0.557000 48 8 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166179688 166179688 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:166179688C>T uc002udc.3 + 11 1984 c.1694C>T c.(1693-1695)tCc>tTc p.S565F SCN2A_uc002udd.3_Missense_Mutation_p.S565F|SCN2A_uc002ude.3_Missense_Mutation_p.S565F NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 565 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) ATCCGTGGCTCCCTTTTCTCT 0.438000 52 7 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228556557 228556557 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:228556557C>T uc009xez.1 + 88 19946 c.19902C>T c.(19900-19902)atC>atT p.I6634I OBSCN_uc001hsr.1_Silent_p.I1263I NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 6634 Protein kinase 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCCCCGAGATCATCCAGCAGA 0.577000 74 9 0 0 1 0 0 FLT3 2322 broad.mit.edu 37 13 28631588 28631588 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:28631588G>A uc001urw.3 - 3 462 c.380C>T c.(379-381)tCc>tTc p.S127F FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.S127F NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 127 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) AATGACCATGGAAACAACTCC 0.333000 """Mis, O""" """AML, ALL""" 32 7 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129822269 129822269 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:129822269G>A uc009zyl.1 - 3 1537 c.1209C>T c.(1207-1209)gtC>gtT p.V403V NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 403 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CGGGGTACTCGACCTGCCACG 0.577000 105 9 0 0 1 0 0 SLC2A7 155184 broad.mit.edu 37 1 9063437 9063437 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:9063437C>T uc009vmo.1 - 11 1461 c.1461G>A c.(1459-1461)gtG>gtA p.V487V NM_207420 NP_997303 Q6PXP3 GTR7_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA. 487 integral to membrane|plasma membrane sugar transmembrane transporter activity NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) CTGGAAGCTTCACCCTGTTTC 0.498000 99 5 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49935642 49935642 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:49935642G>A uc003cxy.4 - 4 1986 c.1722C>T c.(1720-1722)ttC>ttT p.F574F MST1R_uc011bdc.2_Silent_p.F574F|MST1R_uc011bdd.2_Silent_p.F574F|MST1R_uc011bde.1_Silent_p.F574F|MST1R_uc011bdf.1_Silent_p.F468F NM_002447 NP_002438 Q04912 RON_HUMAN Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA. 574 IPT/TIG 1. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TGTGGGGGTGGAACTGAAATG 0.592000 83 5 0 0 1 0 0 PACS1 55690 broad.mit.edu 37 11 65988626 65988626 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:65988626C>T uc001oha.2 + 10 1334 c.1200_splice c.e10-1 p.K400_splice NM_018026 NP_060496 Q6VY07 PACS1_HUMAN Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA. 400 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 TCACCACAGGCCTTTCTTTGA 0.587000 87 25 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39799810 39799810 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:39799810C>T uc021olw.1 + 0 2870 c.2870C>T c.(2869-2871)tCt>tTt p.S957F MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 2522 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATGAGACTTTCTGTTGATAAT 0.398000 104 5 0 0 1 0 0 TTC30A 92104 broad.mit.edu 37 2 178482475 178482475 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:178482475G>A uc002ulo.3 - 0 1220 c.955C>T c.(955-957)Cct>Tct p.P319S NM_152275 NP_689488 Q86WT1 TT30A_HUMAN Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA. 319 cell projection organization cilium binding autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) GTCTCTGGAGGAAAGGGATTC 0.468000 145 21 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52716050 52716050 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:52716050C>T uc002pyp.3 + 4 910 c.615C>T c.(613-615)atC>atT p.I205I PPP2R1A_uc010ydk.2_Silent_p.I150I|PPP2R1A_uc010epm.1_Silent_p.I245I|PPP2R1A_uc002pyq.3_Silent_p.I26I NM_014225 NP_055040 P30153 2AAA_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA. 205 PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding. G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) AGAGTGAGATCATCCCCATGT 0.597000 Mis clear cell ovarian carcinoma 128 18 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64612818 64612818 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:64612818C>T uc001xgl.3 + 83 15746 c.15516C>T c.(15514-15516)atC>atT p.I5172I SYNE2_uc001xgm.3_Silent_p.I5172I|SYNE2_uc010apy.3_Silent_p.I1557I|SYNE2_uc001xgn.3_Silent_p.I134I|SYNE2_uc021rui.1_Silent_p.I134I|SYNE2_uc001xgo.3_Non-coding_Transcript NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 5172 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TAGAAAGTATCACTGAGAGTG 0.318000 21 4 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12342813 12342813 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12342813C>T uc001atv.3 + 20 4795 c.4654C>T c.(4654-4656)Ctc>Ttc p.L1552F VPS13D_uc001atw.3_Missense_Mutation_p.L1552F|VPS13D_uc001atx.3_Missense_Mutation_p.L740F NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 1552 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CCTGGACAATCTCGTGTACAG 0.433000 64 5 0 0 1 0 0 TRBV2 28620 broad.mit.edu 37 7 142001040 142001040 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:142001040C>T uc011kro.1 + 1 177 c.132C>T c.(130-132)ccC>ccT p.P44P TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; ACTGTGTCCCCATCTCTAATC 0.438000 16 4 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49692520 49692520 + Missense_Mutation SNP C T T rs150712047 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:49692520C>T uc003cxe.4 + 4 5645 c.5531C>T c.(5530-5532)gCc>gTc p.A1844V NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 1844 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCCCACCGGGCCACCCCTGCA 0.642000 48 12 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137648659 137648659 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:137648659C>T uc004cfe.3 + 16 2258 c.1876C>T c.(1876-1878)Ccc>Tcc p.P626S NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 626 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) ACAAACTGGCCCCAAGGTAGG 0.547000 62 7 0 0 1 0 0 ZNF695 57116 broad.mit.edu 37 1 247150418 247150418 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:247150418C>T uc009xgu.3 - 3 1584 c.1399G>A c.(1399-1401)Gaa>Aaa p.E467K ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Intron|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron NM_020394 NP_065127 Q8IW36 ZN695_HUMAN Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA. 467 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CCACATTCTTCACATTTGTAG 0.388000 24 5 0 0 1 0 0 TNS4 84951 broad.mit.edu 37 17 38652341 38652341 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:38652341C>T uc010cxb.3 - 1 501 c.337G>A c.(337-339)Gac>Aac p.D113N NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN Homo sapiens tensin 4 (TNS4), mRNA. 113 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) AAGGTGGGGTCCAGTTCCAGG 0.587000 123 10 0 0 1 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12943132 12943132 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12943132G>A uc001aun.2 - 1 155 c.84C>T c.(82-84)tcC>tcT p.S28S NM_001009611 NP_001009611 O60810 PRAM4_HUMAN Homo sapiens PRAME family member 4 (PRAMEF4), mRNA. 28 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCTCCAGGGTGGACATGGCCA 0.587000 150 56 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194080126 194080126 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:194080126G>A uc003ftt.3 - 2 1790 c.1665C>T c.(1663-1665)gtC>gtT p.V555V LRRC15_uc003ftu.3_Silent_p.V549V|LRRC15_uc021xiy.1_Silent_p.V549V NM_001135057 NP_570843 Q8TF66 LRC15_HUMAN Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA. 549 integral to membrane p.S554C(1) biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) AGGCCAGGGCGACAATGCCAA 0.582000 67 4 0 0 1 0 0 CD22 933 broad.mit.edu 37 19 35832029 35832029 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:35832029C>T uc010edt.3 + 6 1579 c.1495C>T c.(1495-1497)Ctg>Ttg p.L499L CD22_uc010edu.3_Silent_p.L411L|CD22_uc010edv.3_Silent_p.L499L|CD22_uc002nzb.4_Silent_p.L322L|CD22_uc010xst.2_Silent_p.L327L|CD22_uc010edx.3_Non-coding_Transcript NM_001771 NP_001762 P20273 CD22_HUMAN Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA. 499 Ig-like C2-type 4. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CCCTGTCGCCCTGAATGTCCA 0.622000 78 16 0 0 1 0 0 GPRASP1 9737 broad.mit.edu 37 X 101911118 101911118 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:101911118C>T uc010nod.3 + 2 2919 c.2277C>T c.(2275-2277)gcC>gcT p.A759A ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Silent_p.A759A|GPRASP1_uc004ejj.4_Silent_p.A759A|GPRASP1_uc004eji.4_Silent_p.A759A|GPRASP1_uc022cbd.1_Silent_p.A759A NM_001099411 NP_055525 Q5JY77 GASP1_HUMAN Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA. 759 Glu-rich. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AAGATGAAGCCATTTCAGAGG 0.473000 60 12 0 0 1 0 0 FMO5 2330 broad.mit.edu 37 1 146672876 146672876 + Silent SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:146672876T>C uc001epi.2 - 6 1430 c.1041A>G c.(1039-1041)aaA>aaG p.K347K FMO5_uc001eph.4_Silent_p.K347K|FMO5_uc001epj.2_Intron NM_001461 NP_001452 P49326 FMO5_HUMAN Homo sapiens flavin containing monooxygenase 5 (FMO5), transcript variant 1, mRNA. 347 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 25 all_hematologic(923;0.0487) ATATCTTGTTTTTGACCACTT 0.453000 41 8 0 0 1 0 0 GLRA1 2741 broad.mit.edu 37 5 151239535 151239535 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:151239535C>T uc003lut.3 - 3 574 c.287G>A c.(286-288)tGg>tAg p.W96* GLRA1_uc003lur.3_Nonsense_Mutation_p.W96*|GLRA1_uc003lus.3_Nonsense_Mutation_p.W13* NM_001146040 NP_001139512 P23415 GLRA1_HUMAN Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA. 96 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGGGTCGTTCCATTGCTGCCG 0.522000 34 5 0 0 1 0 0 ATP6V1G3 127124 broad.mit.edu 37 1 198509761 198509761 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:198509761C>T uc009wzd.3 - 0 55 c.20G>A c.(19-21)gGg>gAg p.G7E ATP6V1G3_uc001gup.3_Missense_Mutation_p.G7E|ATP6V1G3_uc001guo.3_Missense_Mutation_p.G7E NM_133262 NP_573569 Q96LB4 VATG3_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 (ATP6V1G3), transcript variant 1, mRNA. 7 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 7 CTGGTGGATCCCCTGAGACTG 0.448000 50 4 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62295955 62295955 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:62295955C>T uc001ntl.3 - 4 6234 c.5934G>A c.(5932-5934)aaG>aaA p.K1978K AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 1978 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCTCAGGCATCTTAAACTTGG 0.502000 205 18 0 0 1 0 0 FAM53B 9679 broad.mit.edu 37 10 126370431 126370431 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:126370431G>A uc001lhv.1 - 3 1174 c.651C>T c.(649-651)ccC>ccT p.P217P FAM53B_uc001lhu.1_Silent_p.P217P|FAM53B_uc001lhw.3_Silent_p.P217P NM_014661 NP_055476 Q14153 FA53B_HUMAN Homo sapiens family with sequence similarity 53, member B (FAM53B), mRNA. 217 cervix(1)|lung(5)|ovary(2)|pancreas(1) 9 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) CTCCTCCCACGGGGTGCAGGT 0.637000 18 6 0 0 1 0 0 FAM160B2 64760 broad.mit.edu 37 8 21958475 21958475 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:21958475C>T uc011kyx.2 + 11 1659 c.1608C>T c.(1606-1608)atC>atT p.I536I FAM160B2_uc011kyy.2_Non-coding_Transcript NM_022749 NP_073586 Q86V87 F16B2_HUMAN Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA. 536 endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1) 9 TGACCGAGATCGTCAACAGGT 0.478000 23 5 0 0 1 0 0 SPSB1 80176 broad.mit.edu 37 1 9416581 9416581 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:9416581C>T uc010oae.2 + 1 970 c.631C>T c.(631-633)Cct>Tct p.P211S SPSB1_uc001apv.3_Missense_Mutation_p.P211S NM_025106 NP_079382 Q96BD6 SPSB1_HUMAN Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA. 211 B30.2/SPRY. intracellular signal transduction cytoplasm breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2) 13 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) AAAACTGTATCCTGTAGTGAG 0.552000 123 17 0 0 1 0 0 SCARF2 91179 broad.mit.edu 37 22 20781762 20781762 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:20781762G>A uc002zsj.2 - 9 1736 c.1631C>T c.(1630-1632)cCa>cTa p.P544L SCARF2_uc002zsk.2_Missense_Mutation_p.P539L NM_153334 NP_699165 Q96GP6 SREC2_HUMAN Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA. 539 cell adhesion integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 10 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GGACCAGGATGGTGAGGGCTG 0.602000 82 7 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195516631 195516631 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:195516631G>A uc021xjp.1 - 1 1976 c.1820C>T c.(1819-1821)tCc>tTc p.S607F MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.S489F NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 612 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AATTTGTTGGGATGTGTGTCT 0.473000 331 28 0 0 1 0 0 UBASH3A 53347 broad.mit.edu 37 21 43838632 43838632 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:43838632G>A uc002zbe.3 + 6 1044 c.960G>A c.(958-960)ggG>ggA p.G320G UBASH3A_uc002zbf.3_Silent_p.G282G|UBASH3A_uc010gpe.3_Silent_p.G282G|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript|U6_uc021wjq.1_5'Flank NM_018961 NP_061834 P57075 UBS3A_HUMAN Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA. 320 SH3. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 GGGTGATTGGGATCTCACAGC 0.602000 53 4 0 0 1 0 0 SLC20A2 6575 broad.mit.edu 37 8 42294771 42294771 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:42294771G>A uc003xpe.3 - 7 1628 c.1259C>T c.(1258-1260)aCc>aTc p.T420I SLC20A2_uc010lxl.3_Missense_Mutation_p.T420I|SLC20A2_uc010lxm.3_Missense_Mutation_p.T420I|SLC20A2_uc011lcu.2_Missense_Mutation_p.T222I NM_006749 NP_006740 Q08357 S20A2_HUMAN Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA. 420 interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1) 26 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) GTAGGACACGGTGTCGCCCAC 0.637000 53 4 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33246129 33246129 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:33246129C>T uc021vft.1 + 2 742 c.719C>T c.(718-720)tCc>tTc p.S240F NM_206943 NP_996826 Q14766 LTBP1_HUMAN Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA. 240 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity p.S240S(1) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGGGCTGCTTCCTCGTGGGGC 0.557000 50 16 0 0 1 0 0 DDHD1 80821 broad.mit.edu 37 14 53522576 53522577 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:53522576_53522577GG>AA uc001xai.3 - 9 2276_2277 c.2046_2047CC>TT c.(2044-2049)gtccag>gtTTag p.Q683* DDHD1_uc001xaj.3_Nonsense_Mutation_p.Q690*|DDHD1_uc001xah.3_Nonsense_Mutation_p.Q683*|DDHD1_uc001xag.3_Nonsense_Mutation_p.Q265*|DDHD1_uc001xak.1_Nonsense_Mutation_p.Q79* NM_001160148 NP_001153620 Q8NEL9 DDHD1_HUMAN Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA. 683 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) CAGTGGATCTGGACAGGTGAAA 0.342000 40 4 0 0 1 0 0 ANKZF1 55139 broad.mit.edu 37 2 220097337 220097337 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:220097337C>T uc002vkg.3 + 4 664 c.490C>T c.(490-492)Cga>Tga p.R164* ATG9A_uc002vke.1_5'Flank|ATG9A_uc002vkf.1_5'Flank|ANKZF1_uc010zkv.1_Nonsense_Mutation_p.R108*|ANKZF1_uc010zkw.1_5'UTR|ANKZF1_uc002vkh.3_5'UTR|ANKZF1_uc002vki.3_Nonsense_Mutation_p.R164*|ANKZF1_uc002vkj.1_Nonsense_Mutation_p.R152* NM_018089 NP_060559 Q9H8Y5 ANKZ1_HUMAN Homo sapiens ankyrin repeat and zinc finger domain containing 1 (ANKZF1), transcript variant 1, mRNA. 164 intracellular zinc ion binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTACCCTCATCGAGTTCTTTT 0.537000 85 9 0 0 1 0 0 SERPINA5 5104 broad.mit.edu 37 14 95053897 95053897 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:95053897C>T uc001ydm.2 + 2 408 c.198C>T c.(196-198)ttC>ttT p.F66F SERPINA5_uc010ave.2_Silent_p.F66F|SERPINA5_uc001ydn.1_Silent_p.F66F NM_000624 NP_000615 P05154 IPSP_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA. 66 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) AGAGCATCTTCTTCTCCCCTG 0.622000 18 8 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43817643 43817643 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:43817643C>T uc001zrt.3 + 3 4439 c.3972C>T c.(3970-3972)tcC>tcT p.S1324S NM_002373 NP_002364 P78559 MAP1A_HUMAN Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA. 1324 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GCTCCTTCTCCAAGAGTCCTG 0.488000 45 6 0 0 1 0 0 POU2F2 5452 broad.mit.edu 37 19 42600013 42600013 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:42600013G>A uc002osp.3 - 8 794 c.732C>T c.(730-732)ttC>ttT p.F244F POU2F2_uc002osn.3_Silent_p.F228F|POU2F2_uc002osq.3_Silent_p.F228F|POU2F2_uc002osr.2_Silent_p.F244F NM_001207025 NP_001193954 P09086 PO2F2_HUMAN Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA. 244 POU-specific. humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) TGAGGGCCTCGAAGCGGGAAA 0.622000 79 10 0 0 1 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151151733 151151733 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:151151733G>A uc011eem.1 + 14 1751 c.1663G>A c.(1663-1665)Gga>Aga p.G555R PLEKHG1_uc011eel.1_Missense_Mutation_p.G536R|PLEKHG1_uc003qny.1_Missense_Mutation_p.G496R|PLEKHG1_uc003qnz.2_Missense_Mutation_p.G496R NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA. 496 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) TAGAGAGGAAGGATCTCCCCA 0.493000 33 4 0 0 1 0 0 PNMAL2 57469 broad.mit.edu 37 19 46998367 46998367 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:46998367G>A uc002pes.2 - 0 803 c.356C>T c.(355-357)gCg>gTg p.A119V LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_Missense_Mutation_p.A160T NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN Homo sapiens PNMA-like 2 (PNMAL2), mRNA. 119 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) CCCAGCCTCCGCGGCCTGCGT 0.692000 86 10 0 0 1 0 0 URB2 9816 broad.mit.edu 37 1 229771092 229771092 + Silent SNP G A A rs143308460 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:229771092G>A uc001hts.1 + 3 868 c.732G>A c.(730-732)ggG>ggA p.G244G URB2_uc009xfd.1_Silent_p.G244G NM_014777 NP_055592 Q14146 URB2_HUMAN Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA. 244 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 TCCGAGGAGGGATTTTTCAGC 0.592000 63 5 0 0 1 0 0 IL1F10 84639 broad.mit.edu 37 2 113832816 113832816 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:113832816C>T uc002tiu.3 + 4 409 c.334C>T c.(334-336)Ctt>Ttt p.L112F IL1F10_uc002tiv.3_Missense_Mutation_p.L112F|IL1F10_uc002tiw.3_Missense_Mutation_p.L104F NM_173161 NP_775184 Q8WWZ1 IL1FA_HUMAN Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA. 112 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 CGCCTTCAGGCTTGAGGCTGC 0.607000 99 10 0 0 1 0 0 PHF14 9678 broad.mit.edu 37 7 11076096 11076096 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:11076096C>T uc003sry.2 + 8 2106 c.1654C>T c.(1654-1656)Cga>Tga p.R552* PHF14_uc011jxi.2_Nonsense_Mutation_p.R267*|PHF14_uc011jxj.2_Nonsense_Mutation_p.R267* NM_014660 NP_055475 O94880 PHF14_HUMAN Homo sapiens PHD finger protein 14 (PHF14), transcript variant 2, mRNA. 552 zinc ion binding NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 35 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) AGAACTAGCTCGATCTACCAG 0.433000 11 3 0 0 1 0 0 C1orf51 148523 broad.mit.edu 37 1 150259041 150259041 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:150259041C>T uc001euj.3 + 4 1282 c.833C>T c.(832-834)tCc>tTc p.S278F C1orf51_uc001euh.3_Missense_Mutation_p.S278F|C1orf51_uc001eui.3_Missense_Mutation_p.S190F NM_144697 NP_653298 Q8N365 CA051_HUMAN Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA. 278 endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GGTACTATCTCCTTTAGCCAT 0.557000 84 20 0 0 1 0 0 CYP27A1 1593 broad.mit.edu 37 2 219677348 219677348 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:219677348C>T uc002viz.4 + 3 1154 c.720C>T c.(718-720)ttC>ttT p.F240F NM_000784 NP_000775 Q02318 CP27A_HUMAN Homo sapiens cytochrome P450, family 27, subfamily A, polypeptide 1 (CYP27A1), nuclear gene encoding mitochondrial protein, mRNA. 240 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1) 26 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) CCGTGACCTTCGTCAGATCCA 0.552000 248 69 0 0 1 0 0 PCBP3 54039 broad.mit.edu 37 21 47350754 47350754 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:47350754C>T uc010gqb.3 + 12 1114 c.851C>T c.(850-852)tCa>tTa p.S284L PCBP3_uc002zhp.2_Intron|PCBP3_uc002zhq.2_Missense_Mutation_p.S284L|PCBP3_uc002zhs.2_Missense_Mutation_p.S258L|PCBP3_uc002zht.2_Missense_Mutation_p.S274L NM_020528 NP_065389 P57721 PCBP3_HUMAN Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA. 284 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) atgggccagtcatcaggTAAC 0.547000 31 8 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223177295 223177295 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:223177295C>T uc001hnu.2 + 9 2882 c.2556C>T c.(2554-2556)ttC>ttT p.F852F NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 852 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) CCAGCTGCTTCATTGAGACAT 0.488000 434 33 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954855 30954855 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:30954855C>T uc003nsh.2 + 1 1154 c.903C>T c.(901-903)acC>acT p.T301T MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Silent_p.T285T NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN Homo sapiens mucin 21, cell surface associated (MUC21), mRNA. 301 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 ACACAGCCACCAACTCTGAGT 0.592000 134 11 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100686128 100686128 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:100686128G>A uc003uxp.1 + 2 11484 c.11431G>A c.(11431-11433)Gaa>Aaa p.E3811K MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3811 Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACTACGAGTGAAAGAAGCAC 0.478000 42 4 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72993646 72993646 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:72993646G>A uc002fck.3 - 1 1072 c.399C>T c.(397-399)atC>atT p.I133I ZFHX3_uc002fcl.3_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 133 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GCTGGTAGACGATCTCCCCGG 0.711000 62 5 0 0 1 0 0 CD79B 974 broad.mit.edu 37 17 62007708 62007708 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:62007708G>A uc002jdp.1 - 2 242 c.159C>T c.(157-159)ttC>ttT p.F53F CD79B_uc002jdq.1_Silent_p.F52F|CD79B_uc002jdr.1_Intron NM_001039933 NP_001035022 P40259 CD79B_HUMAN Homo sapiens CD79b molecule, immunoglobulin-associated beta (CD79B), transcript variant 3, mRNA. 52 Ig-like V-type. cell surface receptor linked signaling pathway|immune response Golgi apparatus|integral to plasma membrane|nucleus transmembrane receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 15 TCCTGGCTATGAAACGTGGGC 0.582000 """Mis, O""" DLBCL 25 11 0 0 1 0 0 SLC6A9 6536 broad.mit.edu 37 1 44475743 44475743 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:44475743G>A uc001cll.3 - 3 624 c.432C>T c.(430-432)atC>atT p.I144I SLC6A9_uc009vxe.2_5'UTR|SLC6A9_uc010okm.1_Silent_p.I71I|SLC6A9_uc001clm.3_Silent_p.I90I|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.I75I|SLC6A9_uc010oko.2_Intron|SLC6A9_uc001cln.3_Silent_p.I71I|SLC6A9_uc010okp.1_Non-coding_Transcript NM_201649 NP_964012 P48067 SC6A9_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA. 144 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity p.P143P(1) endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) AGATGAGCATGATGAAGTAGG 0.597000 74 11 0 0 1 0 0 ZNF786 136051 broad.mit.edu 37 7 148767689 148767689 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:148767689G>A uc003wfh.2 - 3 2312 c.2175C>T c.(2173-2175)atC>atT p.I725I ZNF786_uc011kuk.1_Silent_p.I688I|ZNF786_uc003wfi.2_Silent_p.I639I NM_152411 NP_689624 Q8N393 ZN786_HUMAN Homo sapiens zinc finger protein 786 (ZNF786), mRNA. 725 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CGGGCCTGTGGATGCGCTGGT 0.562000 107 23 0 0 1 0 0 XK 7504 broad.mit.edu 37 X 37587525 37587525 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:37587525C>T uc004ddq.3 + 2 1227 c.1145C>T c.(1144-1146)tCc>tTc p.S382F NM_021083 NP_066569 P51811 XK_HUMAN Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA. 382 amino acid transport integral to membrane protein binding|transporter activity breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(315;0.175) CTCTTTTCTTCCAGTGTTTCT 0.488000 9 3 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 21967627 21967627 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:21967627C>T uc001rfh.3 - 32 4073 c.4053G>A c.(4051-4053)ggG>ggA p.G1351G ABCC9_uc001rfi.1_Silent_p.G1351G NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 1351 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ACGATGATTTCCCACTGCCAG 0.398000 10 3 0 0 1 0 0 ACCS 84680 broad.mit.edu 37 11 44105088 44105088 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:44105088C>T uc009yks.1 + 13 1513 c.1369C>T c.(1369-1371)Cgc>Tgc p.R457C EXT2_uc010rfo.2_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.R457C NM_001127219 NP_115981 Q96QU6 1A1L1_HUMAN Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA. 457 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups p.R457C(2)|p.R457L(1) breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1) 35 TGGTTGGTTTCGCTTTGTCTT 0.567000 62 8 0 0 1 0 0 PNPLA1 285848 broad.mit.edu 37 6 36270127 36270127 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:36270127C>T uc010jwf.2 + 5 1265 c.1265C>T c.(1264-1266)tCa>tTa p.S422L PNPLA1_uc010jwe.1_Missense_Mutation_p.S336L|PNPLA1_uc003olw.1_Missense_Mutation_p.S327L NM_001145717 NP_775947 Q8N8W4 PLPL1_HUMAN Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA. 422 Pro-rich. lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 GCACCCACTTCACCCAGGCCA 0.602000 OREG0017382 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 61 14 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42798161 42798161 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:42798161C>T uc002otf.1 + 16 4155 c.4115C>T c.(4114-4116)cCc>cTc p.P1372L NM_015125 NP_055940 Q96RK0 CIC_HUMAN Homo sapiens capicua homolog (Drosophila) (CIC), mRNA. 1372 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GAGGTGCTGCCCTCCCCCACC 0.642000 """Mis, F, S""" oligodendroglioma 97 5 0 0 1 0 0 DDC 1644 broad.mit.edu 37 7 50563091 50563091 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:50563091G>A uc003tpg.4 - 8 1102 c.901C>T c.(901-903)Ccc>Tcc p.P301S DDC_uc022ade.1_Missense_Mutation_p.P223S|DDC_uc003tpf.4_Missense_Mutation_p.P301S|DDC_uc022adb.1_Missense_Mutation_p.P263S|DDC_uc022adc.1_Missense_Mutation_p.P253S|DDC_uc022add.1_Missense_Mutation_p.P208S|DDC_uc022adf.1_Missense_Mutation_p.P301S NM_001082971 NP_001076440 P20711 DDC_HUMAN Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA. 301 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CATTTGTGGGGATTAAAGTTG 0.378000 38 4 0 0 1 0 0 SMG6 23293 broad.mit.edu 37 17 2089975 2089975 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:2089975G>A uc002fub.1 - 11 3192 c.3137C>T c.(3136-3138)tCc>tTc p.S1046F SMG6_uc010vqv.1_Missense_Mutation_p.S138F|SMG6_uc002fud.2_Missense_Mutation_p.S1015F NM_017575 NP_060045 Q86US8 EST1A_HUMAN Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA. 1046 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CAGATCCAGGGATGTGGGAGG 0.592000 28 6 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158612261 158612261 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:158612261G>A uc001fst.1 - 32 4876 c.4677C>T c.(4675-4677)atC>atT p.I1559I NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1559 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.I1559M(2)|p.V1558I(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCCCCAGGTTGATGACGCCAT 0.463000 13 3 0 0 1 0 0 IRF6 3664 broad.mit.edu 37 1 209964128 209964129 + Missense_Mutation DNP GA AC AC TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:209964128_209964129GA>AC uc001hhq.2 - 6 1075_1076 c.771_772TC>GT c.(769-774)ggtccc>ggGTcc p.P258S IRF6_uc010psm.2_Missense_Mutation_p.P163S NM_006147 NP_001193625 O14896 IRF6_HUMAN Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA. 258 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) TCAGGCATGGGACCCAGGTCCC 0.564000 HNSCC(57;0.16) 44 8 0 0 1 0 0 GCK 2645 broad.mit.edu 37 7 44191958 44191958 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:44191958C>T uc003tkl.2 - 2 745 c.275G>A c.(274-276)gGa>gAa p.G92E GCK_uc003tkj.1_Missense_Mutation_p.G91E|GCK_uc003tkk.1_Missense_Mutation_p.G93E NM_000162 NP_000153 P35557 HXK4_HUMAN Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA. 92 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 CTCACCTTCTCCCACCTTCAC 0.587000 549 33 0 0 1 0 0 ADAM15 8751 broad.mit.edu 37 1 155032808 155032808 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:155032808C>T uc001fgr.1 + 17 2297 c.2196C>T c.(2194-2196)acC>acT p.T732T LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_Silent_p.T417T|ADAM15_uc010peu.1_Silent_p.T749T|ADAM15_uc001fgx.1_Silent_p.T732T|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Silent_p.T732T|ADAM15_uc001fgs.1_Silent_p.T732T|ADAM15_uc010pev.1_Silent_p.T742T|ADAM15_uc001fgu.1_Silent_p.T732T|ADAM15_uc001fgv.1_Silent_p.T732T|ADAM15_uc001fgw.1_Silent_p.T732T NM_207197 NP_997080 Q13444 ADA15_HUMAN Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA. 732 angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane SH3 domain binding|metalloendopeptidase activity|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) AGGGACCCACCTGCCAGTACA 0.607000 36 11 0 0 1 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 23004504 23004504 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:23004504G>A uc003xcz.1 - 3 544 c.452C>T c.(451-453)tCc>tTc p.S151F NM_003840 NP_003831 Q9UBN6 TR10D_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA. 151 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) CATCTCAGGGGAGTTTTTATC 0.493000 164 11 0 0 1 0 0 ATP2C2 9914 broad.mit.edu 37 16 84459396 84459396 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:84459396G>A uc010chj.3 + 10 1064 c.975G>A c.(973-975)acG>acA p.T325T ATP2C2_uc002fhx.3_Silent_p.T325T|ATP2C2_uc002fhy.3_Silent_p.T342T|ATP2C2_uc002fhz.3_Silent_p.T174T NM_014861 NP_055676 O75185 AT2C2_HUMAN Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA. 325 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 GTATGTTCACGATCGGGGTCA 0.552000 237 17 0 0 1 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174721469 174721469 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:174721469C>T uc001gjx.3 + 17 2465 c.2188C>T c.(2188-2190)Cat>Tat p.H730Y RABGAP1L_uc001gkb.4_5'UTR|RABGAP1L_uc001gkc.4_Missense_Mutation_p.H37Y|RABGAP1L_uc001gkd.4_Missense_Mutation_p.H56Y NM_014857 NP_055672 Q5R372 RBG1L_HUMAN Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA. 730 regulation of protein localization Golgi apparatus|early endosome|nucleus Rab GTPase activator activity NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 CATAATCTTTCATGTAGCTTT 0.323000 50 7 0 0 1 0 0 RGS20 8601 broad.mit.edu 37 8 54791948 54791948 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:54791948G>A uc003xrp.3 + 1 388 c.296G>A c.(295-297)cGg>cAg p.R99Q RGS20_uc003xrq.3_Intron|RGS20_uc010lye.3_Intron|RGS20_uc010lyf.3_Intron|RGS20_uc003xrr.2_5'Flank|RGS20_uc003xrs.3_5'Flank|RGS20_uc003xrt.3_5'Flank NM_170587 NP_733466 O76081 RGS20_HUMAN Homo sapiens regulator of G-protein signaling 20 (RGS20), transcript variant 1, mRNA. 99 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|nucleus|plasma membrane GTPase activator activity|protein binding|signal transducer activity breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009) GAGGCTCCCCGGAGGCGCCTG 0.731000 53 7 0 0 1 0 0 HEATR8 374977 broad.mit.edu 37 1 55139785 55139785 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:55139785G>A uc010ooe.1 + 9 2221 c.1897G>A c.(1897-1899)Ggc>Agc p.G633S HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.G201S|HEATR8_uc010ood.1_Missense_Mutation_p.G151S|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.G633S|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA. 633 integral to membrane binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GGCTCTGGACGGCATCATCAT 0.527000 136 12 0 0 1 0 0 ZNF426 79088 broad.mit.edu 37 19 9639686 9639686 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9639686G>A uc002mlq.3 - 7 1299 c.1035C>T c.(1033-1035)ttC>ttT p.F345F ZNF426_uc010dws.3_Silent_p.F307F NM_024106 NP_077011 Q9BUY5 ZN426_HUMAN Homo sapiens zinc finger protein 426 (ZNF426), mRNA. 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 AGTACTGAGTGAAGGCTTTCC 0.443000 36 4 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89083224 89083224 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:89083224C>T uc021ryf.1 - 41 5892 c.5643_splice c.e41-1 p.S1881_splice EML5_uc001xxf.3_Splice_Site_p.S668_splice|EML5_uc021ryg.1_Splice_Site_p.S1881_splice|EML5_uc001xxd.3_Splice_Site_p.S46_splice|EML5_uc001xxe.3_Splice_Site_p.S230_splice NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA. 1873 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TCCTAGAATACTAGAGGGAAG 0.413000 45 5 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11773064 11773064 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:11773064C>T uc002rbk.1 + 27 5166 c.4866C>T c.(4864-4866)ctC>ctT p.L1622L GREB1_uc002rbp.1_Silent_p.L620L NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA. 1622 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) ACCTGGAGCTCGAGCGGAACC 0.572000 33 6 0 0 1 0 0 OR6B3 150681 broad.mit.edu 37 2 240985280 240985280 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:240985280C>T uc010zoe.2 - 0 210 c.210G>A c.(208-210)gaG>gaA p.E70E PRR21_uc010zod.2_5'Flank NM_173351 NP_775486 Q8NGW1 OR6B3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA. 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1) 18 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) CGTACCAGATCTCTAGGAAAG 0.552000 128 7 0 0 1 0 0 IL18R1 8809 broad.mit.edu 37 2 103011069 103011069 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:103011069G>A uc002tbw.4 + 9 1402 c.1252G>A c.(1252-1254)Gat>Aat p.D418N IL18R1_uc010ywd.2_Missense_Mutation_p.D262N|IL18R1_uc010fiy.3_Missense_Mutation_p.D418N|IL18R1_uc010ywc.2_Missense_Mutation_p.D417N NM_003855 NP_003846 Q13478 IL18R_HUMAN Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA. 418 TIR. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 ATTTGAAAGGGATGTAGTGCC 0.423000 19 9 0 0 1 0 0 C17orf28 283987 broad.mit.edu 37 17 72960726 72960726 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:72960726G>A uc002jmj.4 - 2 216 c.67_splice c.e2-1 p.P23_splice C17orf28_uc010wrs.2_Splice_Site|C17orf28_uc002jmk.2_Splice_Site_p.P23_splice NM_030630 NP_085133 Q8IV36 CQ028_HUMAN Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA. 23 integral to membrane|plasma membrane protein binding endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1) 17 all_lung(278;0.151)|Lung NSC(278;0.185) GGCTTCCACGGGCTGTGGGGG 0.612000 34 5 0 0 1 0 0 SAMD11 148398 broad.mit.edu 37 1 879131 879131 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:879131G>A uc001abw.1 + 12 1823 c.1743G>A c.(1741-1743)gaG>gaA p.E581E SAMD11_uc001abx.1_Silent_p.E444E NM_152486 NP_689699 Q96NU1 SAM11_HUMAN Homo sapiens sterile alpha motif domain containing 11 (SAMD11), mRNA. 581 SAM. nucleus breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) TGACGGAGGAGCACCTGCTGA 0.672000 42 7 0 0 1 0 0 BICD2 23299 broad.mit.edu 37 9 95480936 95480936 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:95480936G>A uc004asp.1 - 4 2048 c.1991C>T c.(1990-1992)gCc>gTc p.A664V BICD2_uc004aso.1_Missense_Mutation_p.A664V NM_001003800 NP_001003800 Q8TD16 BICD2_HUMAN Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA. 664 Interacts with RAB6A (By similarity). microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CTTGTCCACGGCGGGGCCCAG 0.622000 201 17 0 0 1 0 0 STK10 6793 broad.mit.edu 37 5 171517270 171517270 + Missense_Mutation SNP C T T rs148957159 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:171517270C>T uc003mbo.1 - 9 1951 c.1651G>A c.(1651-1653)Gat>Aat p.D551N NM_005990 NP_005981 O94804 STK10_HUMAN Homo sapiens serine/threonine kinase 10 (STK10), mRNA. 551 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTCTTCTCATCTTCGCTGATG 0.522000 131 18 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23080169 23080169 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:23080169C>T uc002dll.3 - 15 3257 c.3257G>A c.(3256-3258)cGg>cAg p.R1086Q USP31_uc002dlk.3_Missense_Mutation_p.R358Q|USP31_uc010vca.2_Missense_Mutation_p.R389Q|USP31_uc010bxm.3_Missense_Mutation_p.R374Q NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA. 1086 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) GGATGAATGCCGTCCACTGCC 0.547000 101 11 0 0 1 0 0 TMCC3 57458 broad.mit.edu 37 12 94965340 94965340 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:94965340G>A uc001tdj.2 - 3 1423 c.1305C>T c.(1303-1305)ttC>ttT p.F435F TMCC3_uc001tdi.2_Silent_p.F404F NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA. 435 integral to membrane NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 TGGGTGAGACGAACTTCGCGA 0.488000 55 5 0 0 1 0 0 IL12RB1 3594 broad.mit.edu 37 19 18180412 18180412 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:18180412C>T uc002nhx.1 - 10 1304 c.1253G>A c.(1252-1254)gGg>gAg p.G418E IL12RB1_uc002nhw.1_Missense_Mutation_p.G378E|IL12RB1_uc010xqb.1_Missense_Mutation_p.G378E NM_005535 NP_005526 P42701 I12R1_HUMAN Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA. 378 Fibronectin type-III 4. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 GGCAAGGCCCCCGTCCTGGCC 0.627000 43 11 0 0 1 0 0 ATF7 11016 broad.mit.edu 37 12 53931283 53931283 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:53931283G>A uc001sdy.3 - 3 372 c.351C>T c.(349-351)atC>atT p.I117I ATF7_uc010sok.1_Non-coding_Transcript|ATF7_uc001sdz.3_Silent_p.I106I|ATF7_uc010sol.2_Silent_p.I106I NM_001130059 NP_001123531 P17544 ATF7_HUMAN Homo sapiens activating transcription factor 7 (ATF7), transcript variant 1, mRNA. 117 Transactivation domain. interspecies interaction between organisms cytoplasm|nuclear periphery|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 CTTCTTCTTTGATTTTGATGT 0.483000 32 5 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151107898 151107898 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:151107898C>T uc003eyp.3 + 35 5607 c.5478C>T c.(5476-5478)ttC>ttT p.F1826F MED12L_uc011bnz.2_Silent_p.F1686F NM_053002 NP_443728 Q86YW9 MD12L_HUMAN Homo sapiens mediator complex subunit 12-like (MED12L), mRNA. 1826 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCGGCTTTTTCCTTCAGAACC 0.493000 58 4 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15995347 15995347 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:15995347G>A uc002gpo.3 - 21 3115 c.2846C>T c.(2845-2847)cCa>cTa p.P949L NCOR1_uc002gpn.3_Missense_Mutation_p.P965L|NCOR1_uc002gpp.1_Missense_Mutation_p.P856L|NCOR1_uc002gpq.1_5'UTR|NCOR1_uc002gpr.3_Missense_Mutation_p.P856L NM_006311 NP_006302 O75376 NCOR1_HUMAN Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA. 949 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GGTTCCAATTGGTATGTTACA 0.433000 52 4 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29498074 29498074 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:29498074G>A uc002rmy.3 - 10 2884 c.1932C>T c.(1930-1932)atC>atT p.I644I NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 644 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) TATTCTGCAGGATCTTGTCCT 0.493000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 43 16 0 0 1 0 0 SLC24A4 123041 broad.mit.edu 37 14 92958030 92958030 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:92958030C>T uc001yak.3 + 14 1582 c.1559C>T c.(1558-1560)tCc>tTc p.S520F SLC24A4_uc001yai.3_Missense_Mutation_p.S456F|SLC24A4_uc010twm.2_Missense_Mutation_p.S501F|SLC24A4_uc010auj.3_Missense_Mutation_p.S392F|SLC24A4_uc010twn.2_Missense_Mutation_p.S276F|SLC24A4_uc001yan.3_Missense_Mutation_p.S214F NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA. 520 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) ATGGCAGTCTCCAACACCATA 0.468000 84 14 0 0 1 0 0 IL3RA 3563 broad.mit.edu 37 X 1501325 1501325 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:1501325G>A uc004cps.3 + 11 1453 c.1104G>A c.(1102-1104)ctG>ctA p.L368L CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Silent_p.L290L NM_002183 NP_002174 P26951 IL3RA_HUMAN Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA. 368 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) AGGAGTGTCTGGTGACTGAAG 0.637000 207 17 0 0 1 0 0 TAP2 6891 broad.mit.edu 37 6 32797738 32797738 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:32797738G>A uc011dqf.1 - 9 1886 c.1764C>T c.(1762-1764)ttC>ttT p.F588F TAP2_uc003ocb.1_Silent_p.F588F|TAP2_uc003occ.3_Silent_p.F588F|TAP2_uc003ocd.3_Silent_p.F588F NM_018833 NP_061313 Q03519 TAP2_HUMAN Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA. 588 ABC transporter. antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I TAP complex|nucleus|plasma membrane ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding TTTCCTGGATGAAGTCATCTG 0.463000 112 6 0 0 1 0 0 PARP9 83666 broad.mit.edu 37 3 122274297 122274297 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:122274297G>A uc010hri.3 - 3 971 c.826C>T c.(826-828)Cac>Tac p.H276Y PARP9_uc003eff.4_Missense_Mutation_p.H241Y|PARP9_uc011bjs.2_Missense_Mutation_p.H241Y|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.H241Y|PARP9_uc003efh.3_Missense_Mutation_p.H276Y|PARP9_uc003efj.2_Missense_Mutation_p.H241Y NM_001146102 NP_113646 Q8IXQ6 PARP9_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA. 276 Macro 1. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) CTCACCAGGTGAATTTCTTTC 0.428000 88 13 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110232263 110232264 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:110232263_110232264GG>AA uc001tpj.2 - 6 1456_1457 c.1361_1362CC>TT c.(1360-1362)ccc>cTT p.P454L TRPV4_uc001tpg.2_Missense_Mutation_p.P420L|TRPV4_uc021rdp.1_Missense_Mutation_p.P394L|TRPV4_uc001tph.2_Missense_Mutation_p.P407L|TRPV4_uc001tpi.2_Missense_Mutation_p.P347L|TRPV4_uc001tpk.2_Missense_Mutation_p.P454L NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA. 454 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 GTTCATTGATGGGCTCCACAGC 0.614000 94 7 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529462 5529462 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:5529462C>T uc021qcw.1 - 0 1327 c.1327G>A c.(1327-1329)Gat>Aat p.D443N HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.D443N NM_017481 NP_059509 Q9H347 UBQL3_HUMAN Homo sapiens ubiquilin 3 (UBQLN3), mRNA. 443 p.P442R(1) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGACAAGATCAGGCAAGTTT 0.537000 50 6 0 0 1 0 0 GUCY2D 3000 broad.mit.edu 37 17 7916565 7916565 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:7916565C>T uc002gjt.2 + 10 2332 c.2258C>T c.(2257-2259)cCc>cTc p.P753L NM_000180 NP_000171 Q02846 GUC2D_HUMAN Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA. 753 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) GAGCTCACTCCCGAGGGTAAG 0.602000 17 3 0 0 1 0 0 POLN 353497 broad.mit.edu 37 4 2132987 2132987 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:2132987G>A uc003ger.2 - 14 1774 c.1762C>T c.(1762-1764)Cag>Tag p.Q588* POLN_uc010icg.1_Nonsense_Mutation_p.Q36*|POLN_uc010ich.1_Nonsense_Mutation_p.Q120* NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN Homo sapiens polymerase (DNA directed) nu (POLN), mRNA. 588 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) GTAGTAATCTGAATTGGGTGC 0.343000 DNA polymerases (catalytic subunits) 63 4 0 0 1 0 0 ZNF623 9831 broad.mit.edu 37 8 144732449 144732449 + Missense_Mutation SNP C T T rs138574970 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:144732449C>T uc003yzd.2 + 0 496 c.407C>T c.(406-408)tCg>tTg p.S136L ZNF623_uc011lkp.1_Missense_Mutation_p.S96L|ZNF623_uc003yzc.2_Missense_Mutation_p.S96L NM_014789 NP_055604 O75123 ZN623_HUMAN Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA. 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S136S(1) endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) ACGTTTAATTCGGACCTAGTT 0.478000 86 6 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129389742 129389742 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:129389742G>A uc021xdy.1 - 3 1376 c.942C>T c.(940-942)atC>atT p.I314I TMCC1_uc003emy.4_5'UTR|TMCC1_uc011blc.2_Silent_p.I135I|TMCC1_uc010htg.3_Silent_p.I200I NM_001017395 NP_001121696 O94876 TMCC1_HUMAN Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA. 314 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GCTGCCGGGGGATCCCATTCT 0.507000 64 10 0 0 1 0 0 DMKN 93099 broad.mit.edu 37 19 36001154 36001155 + Splice_Site DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:36001154_36001155CC>TT uc002nzm.4 - 6 1102 c.919_splice c.e6-1 p.G307_splice DMKN_uc002nzj.3_Splice_Site|DMKN_uc002nzl.4_Splice_Site_p.G20_splice|DMKN_uc002nzk.4_Splice_Site|DMKN_uc002nzo.4_Splice_Site_p.G246_splice|DMKN_uc002nzn.4_Splice_Site_p.G246_splice|DMKN_uc002nzu.2_Splice_Site|DMKN_uc002nzv.2_Splice_Site|DMKN_uc002nzw.2_Splice_Site|DMKN_uc002nzq.2_Splice_Site|DMKN_uc002nzp.2_Splice_Site|DMKN_uc002nzr.2_Splice_Site|DMKN_uc002nzs.2_Splice_Site|DMKN_uc002nzt.2_Splice_Site|DMKN_uc010xsw.2_Splice_Site_p.G20_splice|DMKN_uc010xsv.1_Splice_Site|DMKN_uc002nzx.4_Splice_Site|DMKN_uc002nzy.4_Splice_Site|DMKN_uc002nzz.3_Splice_Site_p.G307_splice|DMKN_uc002oaa.4_Splice_Site_p.G307_splice|DMKN_uc002oab.4_Splice_Site_p.G307_splice|DMKN_uc002oac.4_Splice_Site_p.G307_splice NM_033317 NP_201574 Q6E0U4 DMKN_HUMAN Homo sapiens dermokine (DMKN), transcript variant 2, mRNA. 307 Gly-rich. extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GTGCTGGATCCCTGCAGGGGAA 0.574000 OREG0025431 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 3 0 0 1 0 0 CRHR2 1395 broad.mit.edu 37 7 30702320 30702320 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:30702320G>A uc003tbn.3 - 5 932 c.687C>T c.(685-687)ttC>ttT p.F229F CRHR2_uc010kvw.2_Silent_p.F229F|CRHR2_uc010kvx.2_Silent_p.F228F|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Silent_p.F65F|CRHR2_uc003tbo.3_Silent_p.F215F|CRHR2_uc003tbp.3_Silent_p.F256F NM_001883 NP_001874 Q13324 CRFR2_HUMAN Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA. 229 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 ACCATCCGATGAAGAGGAAGA 0.582000 59 5 0 0 1 0 0 LIMK2 3985 broad.mit.edu 37 22 31656016 31656016 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:31656016C>T uc003akh.3 + 4 649 c.504C>T c.(502-504)tcC>tcT p.S168S LIMK2_uc003aki.3_Intron|LIMK2_uc003akj.3_Silent_p.S147S|LIMK2_uc003akk.3_Silent_p.S147S|LIMK2_uc011aln.2_Silent_p.S85S NM_005569 NP_005560 P53671 LIMK2_HUMAN Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA. 168 PDZ. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 TCTCCGTGTCCGTGGAGAGTG 0.552000 73 6 0 0 1 0 0 ELMOD3 84173 broad.mit.edu 37 2 85598230 85598230 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:85598230C>T uc010ysn.2 + 6 724 c.382C>T c.(382-384)Cga>Tga p.R128* ELMOD3_uc010fgg.2_Non-coding_Transcript|ELMOD3_uc002spf.4_Nonsense_Mutation_p.R128*|ELMOD3_uc002spg.4_Nonsense_Mutation_p.R128*|ELMOD3_uc002sph.4_Nonsense_Mutation_p.R128*|ELMOD3_uc010yso.2_Non-coding_Transcript|ELMOD3_uc010ysp.2_Non-coding_Transcript NM_032213 NP_115589 Q96FG2 ELMD3_HUMAN Homo sapiens ELMO/CED-12 domain containing 3 (ELMOD3), transcript variant 1, mRNA. 128 phagocytosis cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 12 GCCAACTATTCGAAGGACTGG 0.547000 125 33 0 0 1 0 0 ACOXL 55289 broad.mit.edu 37 2 111556645 111556645 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:111556645G>A uc010yxk.1 + 6 739 c.515G>A c.(514-516)gGa>gAa p.G172E ACOXL_uc021vmm.1_5'UTR|ACOXL_uc021vmn.1_5'UTR NM_001142807 NP_001136279 Q9NUZ1 ACOXL_HUMAN Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA. 172 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 TTGTACCCAGGAGTCACAGCT 0.507000 86 18 0 0 1 0 0 CXorf21 80231 broad.mit.edu 37 X 30578107 30578107 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:30578107C>T uc022bui.1 - 0 366 c.366G>A c.(364-366)aaG>aaA p.K122K CXorf21_uc004dcg.2_Silent_p.K122K NM_025159 NP_079435 Q9HAI6 CX021_HUMAN Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA. 122 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 CATTATAATTCTTGCAAATAC 0.428000 28 10 0 0 1 0 0 ABCD4 5826 broad.mit.edu 37 14 74762643 74762643 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:74762643G>A uc001xpr.2 - 5 734 c.582C>T c.(580-582)ttC>ttT p.F194F ABCD4_uc001xps.2_Silent_p.F35F|ABCD4_uc010tur.2_Silent_p.F107F|ABCD4_uc001xpu.2_5'UTR|ABCD4_uc001xpv.2_Non-coding_Transcript NM_005050 NP_005041 O14678 ABCD4_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 4 (ABCD4), transcript variant 1, mRNA. 194 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00153) TCCCCAGGATGAAATACCCGA 0.552000 48 8 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033191 52033191 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:52033191C>T uc002pwy.3 - 4 1007 c.799G>A c.(799-801)Ggc>Agc p.G267S SIGLEC6_uc002pwz.3_Missense_Mutation_p.G251S|SIGLEC6_uc010ydb.2_Missense_Mutation_p.G215S|SIGLEC6_uc010ydc.2_Missense_Mutation_p.G278S|SIGLEC6_uc002pxa.3_Missense_Mutation_p.G267S|SIGLEC6_uc010eoz.2_Missense_Mutation_p.G256S|SIGLEC6_uc010epa.2_Missense_Mutation_p.G256S|SIGLEC6_uc010epb.2_Missense_Mutation_p.G220S NM_001245 NP_001236 O43699 SIGL6_HUMAN Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA. 267 Ig-like C2-type 2. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) AGAGCCTGGCCCTCCAGGACA 0.602000 117 15 0 0 1 0 0 MYO1E 4643 broad.mit.edu 37 15 59494600 59494600 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:59494600G>A uc002aga.3 - 15 1995 c.1623C>T c.(1621-1623)ttC>ttT p.F541F NM_004998 NP_004989 Q12965 MYO1E_HUMAN Homo sapiens myosin IE (MYO1E), mRNA. 541 Myosin head-like. actin filament-based movement myosin complex ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) AAGACTTTATGAAAGGCCTGG 0.448000 79 7 0 0 1 0 0 KRT15 3866 broad.mit.edu 37 17 39671762 39671762 + Silent SNP G A A rs142117852 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39671762G>A uc002hwy.3 - 5 1400 c.1209C>T c.(1207-1209)atC>atT p.I403I KRT15_uc002hwz.3_Silent_p.I305I|KRT15_uc002hxa.3_Silent_p.I238I|KRT15_uc002hxb.1_Silent_p.I238I NM_002275 NP_002266 P19012 K1C15_HUMAN Homo sapiens keratin 15 (KRT15), mRNA. 403 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) GGTAAGTAGCGATCTCCTGCT 0.607000 71 12 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5904114 5904114 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:5904114G>A uc002wmg.3 + 3 1630 c.1324G>A c.(1324-1326)Ggt>Agt p.G442S CHGB_uc010zqz.2_Missense_Mutation_p.G125S NM_001819 NP_001810 P05060 SCG1_HUMAN Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA. 442 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 AAGGTTCTTGGGTGAAGGACA 0.547000 87 4 0 0 1 0 0 PPEF2 5470 broad.mit.edu 37 4 76781888 76781888 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:76781888C>T uc003hix.3 - 16 2551 c.2194G>A c.(2194-2196)Gat>Aat p.D732N PPEF2_uc003hiy.3_Non-coding_Transcript NM_006239 NP_006230 O14830 PPE2_HUMAN Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA. 732 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity p.D732N(2)|p.G731R(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TCTGAGGCATCGCCCTCTGGG 0.512000 34 8 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156729833 156729833 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:156729833C>T uc021ygm.1 + 6 736 c.598C>T c.(598-600)Ccc>Tcc p.P200S CYFIP2_uc011ddn.2_Missense_Mutation_p.P175S|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Missense_Mutation_p.P200S|CYFIP2_uc021ygo.1_Missense_Mutation_p.P200S|CYFIP2_uc003lwt.3_Missense_Mutation_p.P79S|CYFIP2_uc011ddp.2_Intron NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA. 201 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GATGGCAGATCCCCAGTCTAT 0.572000 158 17 0 0 1 0 0 NTNG2 84628 broad.mit.edu 37 9 135042273 135042273 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:135042273T>A uc004cbh.2 + 1 831 c.55T>A c.(55-57)Tat>Aat p.Y19N NM_032536 NP_115925 Q96CW9 NTNG2_HUMAN Homo sapiens netrin G2 (NTNG2), mRNA. 19 axonogenesis anchored to plasma membrane central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) CTCTGGGGACTATGACATCTG 0.627000 92 6 0 0 1 0 0 STK10 6793 broad.mit.edu 37 5 171523556 171523556 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:171523556G>A uc003mbo.1 - 7 1179 c.879C>T c.(877-879)ttC>ttT p.F293F NM_005990 NP_005981 O94804 STK10_HUMAN Homo sapiens serine/threonine kinase 10 (STK10), mRNA. 293 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGCTGCTGACGAAGGGATGCT 0.627000 73 10 0 0 1 0 0 STAG3 10734 broad.mit.edu 37 7 99808772 99808772 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:99808772A>T uc003utx.1 + 29 3532 c.3377A>T c.(3376-3378)gAg>gTg p.E1126V STAG3_uc011kjk.1_Missense_Mutation_p.E1068V|GATS_uc010lgt.3_Intron|GATS_uc003uty.4_Intron|GATS_uc003utz.4_Intron|GATS_uc003uua.4_Intron|STAG3_uc003uub.1_Missense_Mutation_p.E350V NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN Homo sapiens stromal antigen 3 (STAG3), mRNA. 1126 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AAAGAGATGGAGGAAGAAGAT 0.577000 49 5 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9009651 9009651 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9009651C>T uc002mkp.3 - 38 39279 c.39075G>A c.(39073-39075)ggG>ggA p.G13025G MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13027 SEA 7. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCATGTCCTCCCCATACTGCA 0.552000 43 8 0 0 1 0 0 EIF2C3 192669 broad.mit.edu 37 1 36411312 36411312 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:36411312C>T uc001bzp.3 + 1 384 c.39C>T c.(37-39)ccC>ccT p.P13P EIF2C3_uc001bzn.1_Silent_p.P13P|EIF2C3_uc001bzq.3_5'UTR NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA. 13 mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol RNA binding|protein binding NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4) 33 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GGGCCCAGCCCCTACTCATGG 0.473000 132 23 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133541904 133541904 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:133541904G>A uc002ttp.3 - 13 2854 c.2480C>T c.(2479-2481)tCa>tTa p.S827L NCKAP5_uc002ttq.3_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 827 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CAGGCCAGATGAAGGGAGTAG 0.468000 168 9 0 0 1 0 0 GJC1 10052 broad.mit.edu 37 17 42882354 42882354 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:42882354G>A uc002ihj.3 - 1 1343 c.832C>T c.(832-834)Cct>Tct p.P278S GJC1_uc002ihk.3_Missense_Mutation_p.P278S|GJC1_uc002ihl.3_Missense_Mutation_p.P278S|GJC1_uc021tyf.1_Missense_Mutation_p.P278S NM_005497 NP_005488 P36383 CXG1_HUMAN Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA. 278 cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1) 19 Prostate(33;0.0959) CAAGTGAAAGGATAATTATAA 0.443000 98 20 0 0 1 0 0 NPTX1 4884 broad.mit.edu 37 17 78445618 78445618 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:78445618C>T uc002jyp.1 - 3 1149 c.991G>A c.(991-993)Gat>Aat p.D331N NM_002522 NP_002513 Q15818 NPTX1_HUMAN Homo sapiens neuronal pentraxin I (NPTX1), mRNA. 331 Pentaxin. central nervous system development|synaptic transmission|transport transport vesicle metal ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1) 11 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487) TGCGTGCCATCCTGGTAGGCC 0.622000 53 6 0 0 1 0 0 CLDN9 9080 broad.mit.edu 37 16 3063714 3063714 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:3063714C>T uc010uwo.1 + 0 1258 c.351C>T c.(349-351)atC>atT p.I117I NM_020982 NP_066192 O95484 CLD9_HUMAN Homo sapiens claudin 9 (CLDN9), mRNA. 117 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(2)|large_intestine(1)|lung(5)|prostate(2) 10 AGGCCCGTATCGTGCTCACCG 0.647000 111 9 0 0 1 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43481001 43481001 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:43481001G>A uc002iix.3 - 7 1048 c.599C>T c.(598-600)tCg>tTg p.S200L ARHGAP27_uc010dak.3_Missense_Mutation_p.S173L|ARHGAP27_uc010wjl.1_Missense_Mutation_p.S319L NM_199282 NP_954976 Q6ZUM4 RHG27_HUMAN Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA. 541 positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) GCCTGCAGCCGAGGTCTTTGA 0.542000 57 7 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170097788 170097788 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:170097788C>T uc002ues.3 - 24 3968 c.3755G>A c.(3754-3756)gGg>gAg p.G1252E LRP2_uc010zdf.1_Missense_Mutation_p.G1115E NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 1252 LDL-receptor class A 13. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTCTGGATGCCCATCACATTC 0.493000 67 5 0 0 1 0 0 PTGDR 5729 broad.mit.edu 37 14 52734840 52734840 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:52734840C>T uc001wzq.3 + 0 410 c.308C>T c.(307-309)tCg>tTg p.S103L NM_000953 NP_000944 Q13258 PD2R_HUMAN Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA. 103 integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) TTGGACAACTCGTTGTGCCAA 0.617000 119 16 0 0 1 0 0 CYP4X1 260293 broad.mit.edu 37 1 47515128 47515128 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:47515128C>T uc001cqt.3 + 10 1557 c.1307C>T c.(1306-1308)tCt>tTt p.S436F CYP4X1_uc001cqr.3_Missense_Mutation_p.S435F|CYP4X1_uc001cqs.3_Missense_Mutation_p.S371F NM_178033 NP_828847 Q8N118 CP4X1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA. 436 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 CAGGAGAATTCTGATCAGAGA 0.448000 30 5 0 0 1 0 0 KRT85 3891 broad.mit.edu 37 12 52756079 52756079 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:52756079G>A uc001sag.3 - 6 1374 c.1254C>T c.(1252-1254)atC>atT p.I418I NM_002283 NP_002274 P78386 KRT85_HUMAN Homo sapiens keratin 85 (KRT85), mRNA. 418 Coil 2.|Rod. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TGGCGATCTCGATGTCCAGGC 0.622000 79 8 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103355095 103355095 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:103355095C>T uc001dum.3 - 58 4734 c.4416G>A c.(4414-4416)ctG>ctA p.L1472L COL11A1_uc001duk.3_Silent_p.L656L|COL11A1_uc001dul.3_Silent_p.L1460L|COL11A1_uc001dun.3_Silent_p.L1421L|COL11A1_uc009weh.3_Silent_p.L1344L NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 1460 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GAGGACCAATCAGGCCAATTA 0.398000 18 5 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36487411 36487411 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:36487411C>T uc002hpz.3 - 10 2062 c.2041G>A c.(2041-2043)Gag>Aag p.E681K NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA. 681 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TTCTTCAGCTCGTCCTGTGGG 0.587000 36 8 0 0 1 0 0 TNFRSF10C 8794 broad.mit.edu 37 8 22960664 22960664 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:22960664C>T uc003xcy.3 + 0 338 c.30C>T c.(28-30)ttC>ttT p.F10F TNFRSF10C_uc003xcx.3_Non-coding_Transcript|TNFRSF10C_uc011kzr.2_Non-coding_Transcript NM_003841 NP_003832 O14798 TR10C_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA. 10 apoptosis anchored to membrane|integral to plasma membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) CCCTAAAGTTCGTCGTCGTCA 0.721000 28 4 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138208483 138208483 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:138208483G>A uc002tva.1 + 13 2935 c.2935G>A c.(2935-2937)Ggg>Agg p.G979R THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GTCTAGTTGGGGGTCTTGCAG 0.403000 18 4 0 0 1 0 0 C6orf118 168090 broad.mit.edu 37 6 165715174 165715174 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:165715174C>T uc003qum.4 - 1 673 c.637G>A c.(637-639)Gac>Aac p.D213N C6orf118_uc011egi.1_Non-coding_Transcript NM_144980 NP_659417 Q5T5N4 CF118_HUMAN Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA. 213 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CTGTACCTGTCTGCGCTGGTG 0.622000 66 7 0 0 1 0 0 C1QA 712 broad.mit.edu 37 1 22965756 22965756 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:22965756C>T uc001bfy.3 + 2 679 c.594C>T c.(592-594)ttC>ttT p.F198F NM_015991 NP_057075 P02745 C1QA_HUMAN Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA. 198 C1q. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex p.L197F(1) autonomic_ganglia(1)|liver(1)|lung(3)|skin(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGGGGCTCTTCCAGGTGGTGT 0.592000 95 4 0 0 1 0 0 HCAR3 8843 broad.mit.edu 37 12 123201215 123201215 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:123201215C>T uc001ucy.4 - 0 225 c.70G>A c.(70-72)Gac>Aac p.D24N HCAR1_uc001ucw.1_Intron NM_006018 NP_006009 P49019 HCAR3_HUMAN Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA. 24 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) GCAATGAAGTCATCTCGGAAC 0.517000 31 6 0 0 1 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724753 38724753 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:38724753C>T uc001wum.1 - 0 822 c.475G>A c.(475-477)Gag>Aag p.E159K NM_175060 NP_778230 Q86T13 CLC14_HUMAN Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA. 159 C-type lectin. integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) CATCGCATCTCCTTCCAGCCT 0.677000 48 5 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21028325 21028325 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:21028325C>T uc010sil.2 + 6 949 c.884C>T c.(883-885)tCa>tTa p.S295L SLCO1B3_uc001rek.3_Missense_Mutation_p.S295L|SLCO1B3_uc001rel.3_Missense_Mutation_p.S295L|SLCO1B3_uc010sim.2_Intron Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 295 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) ATTTCACTATCATTGCATGTG 0.313000 14 5 0 0 1 0 0 KIF13B 23303 broad.mit.edu 37 8 29004951 29004951 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:29004951G>A uc003xhh.4 - 16 2041 c.1982C>T c.(1981-1983)tCg>tTg p.S661L KIF13B_uc003xhj.2_Missense_Mutation_p.S558L NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN Homo sapiens kinesin family member 13B (KIF13B), mRNA. 661 T cell activation|microtubule-based movement|protein targeting|signal transduction cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) AGCGCTGGGCGAGTGGAAAGA 0.557000 7 4 0 0 1 0 0 IL20RA 53832 broad.mit.edu 37 6 137332422 137332422 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:137332422G>A uc003qhj.3 - 2 825 c.392C>T c.(391-393)cCt>cTt p.P131L IL20RA_uc011edl.2_Missense_Mutation_p.P82L|IL20RA_uc003qhk.3_Intron|IL20RA_uc010kgy.1_Intron|IL20RA_uc003qhi.3_5'Flank NM_014432 NP_055247 Q9UHF4 I20RA_HUMAN Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA. 131 Fibronectin type-III 1. integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) TTCTAAAAAAGGATAGAACCG 0.413000 39 6 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47852820 47852820 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:47852820C>T uc003tny.2 - 48 7279 c.7245G>A c.(7243-7245)gaG>gaA p.E2415E C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Silent_p.E142E NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 2415 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GGTAGGGGTTCTCAGGGCCTC 0.542000 113 6 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956061 18956061 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:18956061G>A uc001mpg.3 - 0 489 c.271C>T c.(271-273)Ccc>Tcc p.P91S NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA. 91 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 ATGGTATGGGGGATACTGATG 0.517000 229 16 0 0 1 0 0 TJP3 27134 broad.mit.edu 37 19 3746849 3746849 + Missense_Mutation SNP G A A rs144396449 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:3746849G>A uc010xhv.2 + 16 2396 c.2396G>A c.(2395-2397)cGg>cAg p.R799Q TJP3_uc010xhs.2_Missense_Mutation_p.R766Q|TJP3_uc010xht.2_Missense_Mutation_p.R730Q|TJP3_uc010xhu.2_Missense_Mutation_p.R775Q|TJP3_uc010xhw.2_Missense_Mutation_p.R785Q NM_014428 NP_055243 O95049 ZO3_HUMAN Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA. 780 tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCAGACGCGGCCCATCTGG 0.657000 16 3 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17607202 17607202 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:17607202G>A uc001bai.3 + 14 1712 c.1672G>A c.(1672-1674)Gag>Aag p.E558K NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA. 558 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GCTGAAGCGGGAGCTGGGCCT 0.592000 93 4 0 0 1 0 0 CST2 1470 broad.mit.edu 37 20 23805958 23805958 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:23805958G>A uc002wtq.1 - 1 246 c.231C>T c.(229-231)atC>atT p.I77I NM_001322 NP_001313 P09228 CYTT_HUMAN Homo sapiens cystatin SA (CST2), mRNA. 77 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 10 CCCCGCCCACGATCTACACAC 0.547000 73 20 0 0 1 0 0 EDC4 23644 broad.mit.edu 37 16 67917908 67917908 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:67917908C>T uc002eur.3 + 28 4302 c.4063C>T c.(4063-4065)Cgg>Tgg p.R1355W EDC4_uc010cer.3_Missense_Mutation_p.R974W|EDC4_uc002eus.3_Missense_Mutation_p.R1085W|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.3_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA. 1355 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CCCCATCACTCGGGACCACAT 0.607000 OREG0023890 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 5 0 0 1 0 0 UPK3A 7380 broad.mit.edu 37 22 45681903 45681903 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:45681903C>T uc003bfy.3 + 1 161 c.134C>T c.(133-135)cCt>cTt p.P45L UPK3A_uc010gzy.3_Missense_Mutation_p.P45L NM_006953 NP_008884 O75631 UPK3A_HUMAN Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA. 45 epithelial cell differentiation endoplasmic reticulum membrane|integral to membrane kidney(1)|large_intestine(1)|lung(2)|skin(1) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) TTGGAAAAGCCTCTCTGCATG 0.572000 53 6 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7721110 7721110 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:7721110G>A uc002giu.1 + 65 10186 c.10172G>A c.(10171-10173)tGg>tAg p.W3391* DNAH2_uc010cnm.1_Nonsense_Mutation_p.W329* NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 3391 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCTTCCAGGTGGGCACTGATG 0.642000 36 6 0 0 1 0 0 KIF20A 10112 broad.mit.edu 37 5 137519947 137519947 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:137519947C>T uc003lcj.3 + 11 1868 c.1372C>T c.(1372-1374)Ccc>Tcc p.P458S KIF20A_uc011cyo.2_Missense_Mutation_p.P440S NM_005733 NP_005724 O95235 KI20A_HUMAN Homo sapiens kinesin family member 20A (KIF20A), mRNA. 458 Kinesin-motor. M phase of mitotic cell cycle|cytokinesis|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1) 27 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GAACCTGGTTCCCTTCCGTGA 0.517000 73 17 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52390704 52390704 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:52390704C>T uc011bef.2 + 21 4029 c.3768C>T c.(3766-3768)atC>atT p.I1256I NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 1256 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTGAGGACATCAACCAGCAGC 0.592000 36 4 0 0 1 0 0 PRODH2 58510 broad.mit.edu 37 19 36303284 36303284 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:36303284G>A uc002obx.1 - 2 595 c.577C>T c.(577-579)Ccg>Tcg p.P193S NM_021232 NP_067055 Q9UF12 PROD2_HUMAN Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA. 193 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCAGAGTCCGGCTCCTCCTCA 0.662000 81 5 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12888493 12888493 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12888493C>A uc001auk.2 - 1 227 c.31G>T c.(31-33)Gcc>Tcc p.A11S NM_001146344 NP_001139816 O60813 PRA11_HUMAN Homo sapiens PRAME family member 11 (PRAMEF11), mRNA. 11 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 AGCTTCAGGGCCTCACAGCGT 0.627000 112 5 0.00198382 0.00200053 1 1 0 UGT1A1 54658 broad.mit.edu 37 2 234545533 234545533 + Missense_Mutation SNP C T T rs145610800 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:234545533C>T uc002vur.3 + 0 411 c.365C>T c.(364-366)tCg>tTg p.S122L UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.S122L NM_019075 NP_061948 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA. 125 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TTATTTTTTTCGCATTGCAGG 0.363000 37 4 0 0 1 0 0 CRP 1401 broad.mit.edu 37 1 159683580 159683580 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:159683580T>A uc001ftw.3 - 1 514 c.410A>T c.(409-411)aAg>aTg p.K137M CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript NM_000567 NP_000558 P02741 CRP_HUMAN Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA. 137 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) CTTCAGACTCTTCCTCACCCT 0.547000 254 11 0 0 1 0 0 OR10H4 126541 broad.mit.edu 37 19 16060264 16060264 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:16060264C>T uc010xov.2 + 0 447 c.447C>T c.(445-447)acC>acT p.T149T NM_001004465 NP_001004465 Q8NGA5 O10H4_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA. 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 TGGCCTGTACCTGGGCTGGTG 0.527000 40 10 0 0 1 0 0 AP1G2 8906 broad.mit.edu 37 14 24035517 24035517 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:24035517G>A uc001wkl.2 - 3 778 c.441C>T c.(439-441)ctC>ctT p.L147L AP1G2_uc001wkk.3_Silent_p.L18L|AP1G2_uc001wkn.2_5'UTR|AX747770_uc001wko.1_Non-coding_Transcript|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Silent_p.L147L|AP1G2_uc010aks.3_Silent_p.L18L|AP1G2_uc010akt.3_Silent_p.L18L|AP1G2_uc010tnq.1_Non-coding_Transcript NM_003917 NP_003908 O75843 AP1G2_HUMAN Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA. 147 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) TGGGCTGCAGGAGCAGTTTCT 0.592000 61 6 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49169616 49169616 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:49169616G>A uc003cwe.3 - 3 691 c.392C>T c.(391-393)cCt>cTt p.P131L LAMB2_uc003cwf.1_Missense_Mutation_p.P131L NM_002292 NP_002283 P55268 LAMB2_HUMAN Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA. 131 Laminin N-terminal. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GGTGACCGCAGGGATACCTGG 0.557000 34 4 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33582181 33582181 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:33582181G>A uc002xbi.2 + 26 3120 c.2803G>A c.(2803-2805)Gac>Aac p.D935N NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA. 893 membrane|myosin filament ATP binding|actin binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GGAGAAGAATGACCTGGCCCT 0.677000 43 6 0 0 1 0 0 SLC35E2 9906 broad.mit.edu 37 1 1670428 1670428 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:1670428G>A uc001aia.2 - 2 814 c.391C>T c.(391-393)Cag>Tag p.Q131* SLC35E2B_uc001ahh.4_Intron|SLC35E2_uc001ahy.3_Nonsense_Mutation_p.Q131* NM_182838 NP_878258 P0CK97 S35E2_HUMAN Homo sapiens solute carrier family 35, member E2 (SLC35E2), transcript variant 1, mRNA. 131 integral to membrane endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCCTTGTGCTGATATAAACAG 0.542000 89 8 0 0 1 0 0 ODF1 4956 broad.mit.edu 37 8 103572925 103572926 + Missense_Mutation DNP CC TT TT rs149163506 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:103572925_103572926CC>TT uc003ykt.2 + 1 674_675 c.566_567CC>TT c.(565-567)tcc>tTT p.S189F NM_024410 NP_077721 Q14990 ODFP1_HUMAN Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA. 189 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) GTAACATACTCCTATGGGCTCG 0.550000 29 4 0 0 1 0 0 SEMA4D 10507 broad.mit.edu 37 9 91994326 91994326 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:91994326C>T uc004aqo.1 - 17 2454 c.1882G>A c.(1882-1884)Gag>Aag p.E628K SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.E628K NM_006378 NP_006369 Q92854 SEM4D_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA. 628 Ig-like C2-type. anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 TTAACCCTCTCCTCTGACAGG 0.532000 256 49 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41055511 41055511 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:41055511C>T uc004dfb.3 + 26 4618 c.3985C>T c.(3985-3987)Cgt>Tgt p.R1329C USP9X_uc004dfc.3_Missense_Mutation_p.R1329C NM_001039590 NP_001034679 Q93008 USP9X_HUMAN Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA. 1329 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 CAGAACTGTTCGTCAGGTGGC 0.398000 13 12 0 0 1 0 0 IL36G 56300 broad.mit.edu 37 2 113742473 113742473 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:113742473C>T uc002tio.1 + 4 426 c.357C>T c.(355-357)ttC>ttT p.F119F IL36G_uc010fkr.1_Silent_p.F84F NM_019618 NP_062564 Q9NZH8 IL36G_HUMAN Homo sapiens interleukin 36, gamma (IL36G), mRNA. 119 cell-cell signaling extracellular space cytokine activity|interleukin-1 receptor antagonist activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 CCTTCCTTTTCTACCGTGCCA 0.517000 48 10 0 0 1 0 0 HS3ST2 9956 broad.mit.edu 37 16 22926524 22926524 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:22926524C>T uc002dli.3 + 1 817 c.745C>T c.(745-747)Cgc>Tgc p.R249C NM_006043 NP_006034 Q9Y278 HS3S2_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA. 249 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) GAACGCCATCCGCATCGGCAT 0.617000 101 7 0 0 1 0 0 TGM2 7052 broad.mit.edu 37 20 36776458 36776458 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:36776458G>A uc002xhr.3 - 4 686 c.586C>T c.(586-588)Ctt>Ttt p.L196F TGM2_uc010zvx.2_Missense_Mutation_p.L115F|TGM2_uc010zvy.2_Missense_Mutation_p.L136F|TGM2_uc002xhs.1_Missense_Mutation_p.L172F|TGM2_uc002xht.3_Missense_Mutation_p.L196F|TGM2_uc002xhu.3_Missense_Mutation_p.L196F NM_004613 NP_004604 P21980 TGM2_HUMAN Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA. 196 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) ACATCTAGAAGGATCAGGCAG 0.587000 83 4 0 0 1 0 0 DGCR8 54487 broad.mit.edu 37 22 20074197 20074197 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:20074197C>T uc002zri.3 + 1 1140 c.711C>T c.(709-711)ttC>ttT p.F237F DGCR8_uc010grz.3_Silent_p.F237F|DGCR8_uc002zrj.3_5'Flank NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA. 237 Necessary for interaction with NCL.|Necessary for nuclear localization and retention. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) CCTTGAATTTCCCCTACGAGG 0.463000 146 9 0 0 1 0 0 CSRNP3 80034 broad.mit.edu 37 2 166535517 166535517 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:166535517T>C uc002udf.3 + 6 1388 c.1012T>C c.(1012-1014)Tgc>Cgc p.C338R CSRNP3_uc002udg.3_Missense_Mutation_p.C338R NM_001172173 NP_079245 Q8WYN3 CSRN3_HUMAN Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA. 338 Glu-rich. apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.D337H(1) breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 AGAATTAGATTGCCAAGGAGA 0.517000 25 3 0 0 1 0 0 OR11H12 440153 broad.mit.edu 37 14 19378561 19378561 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:19378561C>T uc010tkp.2 + 0 968 c.968C>T c.(967-969)tCc>tTc p.S323F NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA. 323 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGGGAAGTTCCAACATAATC 0.358000 18 3 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4051787 4051787 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:4051787G>A uc003smx.3 + 15 2479 c.2340G>A c.(2338-2340)cgG>cgA p.R780R SDK1_uc010kso.3_Silent_p.R56R NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 780 Fibronectin type-III 2. cell adhesion integral to membrane p.R780R(2) NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CCAGTGGGCGGACTAATCAGT 0.517000 168 15 0 0 1 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202411596 202411596 + Silent SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:202411596G>T uc001gya.2 + 11 1713 c.1563G>T c.(1561-1563)gtG>gtT p.V521V NM_002481 NP_002472 O60237 MYPT2_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA. 521 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) TTAATCTAGTGAGGAGTGGCT 0.428000 52 5 8.12818e-05 8.21453e-05 1 1 0 HMCN1 83872 broad.mit.edu 37 1 186158974 186158974 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:186158974C>T uc001grq.1 + 106 17101 c.16872C>T c.(16870-16872)ttC>ttT p.F5624F MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Silent_p.F1076F NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 5624 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AGACCACATTCATAGTTTATA 0.458000 12 4 0 0 1 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981794 61981794 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:61981794G>A uc002yes.2 - 4 1147 c.969C>T c.(967-969)atC>atT p.I323I CHRNA4_uc002yet.1_Silent_p.I147I|CHRNA4_uc010gke.1_Silent_p.I252I|CHRNA4_uc002yev.1_Silent_p.I147I|CHRNA4_uc010gkf.1_Silent_p.I147I NM_000744 NP_000735 P43681 ACHA4_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA. 323 B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) CGAAGACCGTGATGACGATGG 0.607000 77 13 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228523940 228523940 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:228523940G>A uc009xez.1 + 63 16550 c.16506G>A c.(16504-16506)gcG>gcA p.A5502A OBSCN_uc001hsn.3_Silent_p.A5502A|OBSCN_uc001hsr.1_Silent_p.A130A NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 5502 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGGAAACTGCGAGTTTTGCTG 0.607000 81 11 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71398251 71398251 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:71398251C>T uc010dfm.3 - 18 2514 c.2514G>A c.(2512-2514)gaG>gaA p.E838E SDK2_uc002jjt.4_5'UTR|SDK2_uc010dfn.2_Silent_p.E517E NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 838 Fibronectin type-III 3. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TGGTAACCTCCTCTTCCTGTT 0.602000 44 5 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76867915 76867915 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:76867915G>A uc001oyb.2 + 6 872 c.600G>A c.(598-600)ggG>ggA p.G200G MYO7A_uc010rsl.2_Silent_p.G200G|MYO7A_uc010rsm.1_Silent_p.G189G|MYO7A_uc001oyc.2_Silent_p.G200G NM_000260 NP_000251 Q13402 MYO7A_HUMAN Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA. 200 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse ATP binding|actin binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CAGCATTTGGGAATGCCAAGA 0.587000 50 6 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34073134 34073134 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:34073134G>A uc002hjv.2 - 5 1410 c.1382C>T c.(1381-1383)tCc>tTc p.S461F NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA. 461 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGGGCCAAAGGAACGAGGCAG 0.627000 110 11 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10301820 10301820 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:10301820C>T uc002gmm.2 - 29 4214 c.4119G>A c.(4117-4119)caG>caA p.Q1373Q AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1373 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TGGTTCTCCACTGGGCAACCT 0.572000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 182 17 0 0 1 0 0 CYP21A2 1589 broad.mit.edu 37 6 32007585 32007585 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:32007585C>T uc003nze.2 + 5 818 c.711C>T c.(709-711)atC>atT p.I237I CYP21A2_uc003nzf.2_Silent_p.I207I NM_000500 NP_000491 P08686 CP21A_HUMAN Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA. 236 V -> E (in AH3; salt wasting form; dbSNP:rs12530380). glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 GGGATCACATCGTGGAGATGC 0.602000 244 26 0 0 1 0 0 KIAA1644 85352 broad.mit.edu 37 22 44681565 44681565 + Silent SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:44681565A>T uc003bet.2 - 3 475 c.342T>A c.(340-342)gtT>gtA p.V114V NM_001099294 NP_001092764 Q3SXP7 K1644_HUMAN Homo sapiens KIAA1644 (KIAA1644), mRNA. 114 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) AAAGGTCCAGAACCAGCAGCA 0.527000 168 14 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13769663 13769663 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:13769663C>T uc003jfd.2 - 56 9709 c.9667G>A c.(9667-9669)Gaa>Aaa p.E3223K DNAH5_uc003jfc.2_5'Flank NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3223 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCTTCCAGTTCTTTACTCAAG 0.423000 Kartagener syndrome 52 7 0 0 1 0 0 MAB21L2 10586 broad.mit.edu 37 4 151504380 151504380 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:151504380G>A uc003ilw.3 + 0 1304 c.199G>A c.(199-201)Gag>Aag p.E67K LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron NM_006439 NP_006430 Q9Y586 MB212_HUMAN Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA. 67 nervous system development nucleus breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 21 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) CGAGGGGCTCGAGGTCATTTC 0.602000 37 4 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94097238 94097238 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:94097238C>T uc001ybv.1 + 28 5318 c.5235C>T c.(5233-5235)agC>agT p.S1745S UNC79_uc001ybs.1_Silent_p.S1723S NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 1900 integral to membrane p.D1744D(1) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 AAACAAGTAGCCATTCCTCAA 0.393000 27 5 0 0 1 0 0 LGR6 59352 broad.mit.edu 37 1 202287331 202287331 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:202287331G>A uc001gxu.3 + 17 1900 c.1900G>A c.(1900-1902)Gcc>Acc p.A634T LGR6_uc001gxv.3_Missense_Mutation_p.A582T|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.A495T NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA. 634 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 TGAGTACGGAGCCCGCTGGGA 0.627000 29 7 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179634510 179634510 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:179634510C>T uc021vsy.1 - 36 9023 c.8798G>A c.(8797-8799)gGa>gAa p.G2933E TTN_uc021vsz.1_Missense_Mutation_p.G2887E|TTN_uc021vta.1_Missense_Mutation_p.G2887E|TTN_uc021vtb.1_Missense_Mutation_p.G2887E|TTN_uc002unb.2_Missense_Mutation_p.G2933E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 2933 Ig-like 16. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.N2933N(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGGAGTTTTCCCTGCACAAC 0.468000 58 14 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431258 140431258 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140431258C>T uc003lik.1 + 0 280 c.203C>T c.(202-204)tCc>tTc p.S68F NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN Homo sapiens protocadherin beta 1 (PCDHB1), mRNA. 68 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S68S(2) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGCTGGTTTCCGAGGGCAAC 0.582000 56 5 0 0 1 0 0 DDC 1644 broad.mit.edu 37 7 50596996 50596997 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:50596996_50596997CC>TT uc003tpg.4 - 4 680_681 c.479_480GG>AA c.(478-480)cgg>cAA p.R160Q DDC_uc022ade.1_Missense_Mutation_p.R82Q|DDC_uc003tpf.4_Missense_Mutation_p.R160Q|DDC_uc022adb.1_Missense_Mutation_p.R122Q|DDC_uc022adc.1_Missense_Mutation_p.R160Q|DDC_uc022add.1_Intron|DDC_uc022adf.1_Missense_Mutation_p.R160Q|LOC100129427_uc022adg.1_5'Flank NM_001082971 NP_001076440 P20711 DDC_HUMAN Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA. 160 2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) TCACTTTGGTCCGAGCGGCCAG 0.554000 70 6 0 0 1 0 0 ZNF485 220992 broad.mit.edu 37 10 44112244 44112244 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:44112244C>T uc010qfc.2 + 4 947 c.753C>T c.(751-753)ttC>ttT p.F251F ZNF485_uc010qfd.2_Silent_p.F160F NM_145312 NP_660355 Q8NCK3 ZN485_HUMAN Homo sapiens zinc finger protein 485 (ZNF485), mRNA. 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 GGAAAGCCTTCGCTCAGAATG 0.393000 41 4 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129147270 129147270 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:129147270C>T uc022cdu.1 + 2 566 c.522C>T c.(520-522)ttC>ttT p.F174F BCORL1_uc010nrd.1_Silent_p.F76F NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA. 174 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 AGAATACTTTCATTTTGGCAA 0.552000 19 14 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22850879 22850879 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:22850879C>T uc001bft.2 + 17 3978 c.3467C>T c.(3466-3468)tCt>tTt p.S1156F ZBTB40_uc001bfu.2_Missense_Mutation_p.S1156F|ZBTB40_uc009vqi.1_Missense_Mutation_p.S1044F NM_001083621 NP_055685 Q9NUA8 ZBT40_HUMAN Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA. 1156 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CACCTGGAATCTGAGCACCCA 0.567000 34 11 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215848395 215848395 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:215848395G>A uc001hku.1 - 62 13245 c.12858C>T c.(12856-12858)atC>atT p.I4286I NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 4286 Fibronectin type-III 28. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.I4286I(2) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTTCTGGTGGGATCCAGGAAA 0.428000 HNSCC(13;0.011) 9 4 0 0 1 0 0 GTF3C4 9329 broad.mit.edu 37 9 135553482 135553482 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:135553482C>T uc010mzv.3 + 1 734 c.476C>T c.(475-477)cCa>cTa p.P159L GTF3C4_uc010mzw.3_Non-coding_Transcript NM_012204 NP_036336 Q9UKN8 TF3C4_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA. 159 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) AAGGCTTTACCACCAATGAGA 0.547000 52 8 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100682121 100682121 + Missense_Mutation SNP C T T rs141900729 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:100682121C>T uc003uxp.1 + 2 7477 c.7424C>T c.(7423-7425)aCc>aTc p.T2475I MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2475 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAGGCTGGCACCCTTTCCACA 0.522000 182 31 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126544639 126544639 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:126544639G>A uc003vlr.2 - 2 1137 c.826C>T c.(826-828)Cga>Tga p.R276* GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Nonsense_Mutation_p.R276*|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_5'UTR NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 276 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) ATCACTGCTCGAGCATTAGGT 0.413000 HNSCC(24;0.065) 24 4 0 0 1 0 0 AP2A2 161 broad.mit.edu 37 11 1010583 1010583 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:1010583C>T uc001lst.2 + 21 2994 c.2781C>T c.(2779-2781)gcC>gcT p.A927A AP2A2_uc001lss.3_Silent_p.A926A NM_001242837 NP_001229766 O94973 AP2A2_HUMAN Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA. 926 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) GTAAGGAAGCCGTTTCTCAGA 0.547000 10 4 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50406836 50406836 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:50406836G>A uc002xwh.4 - 1 2287 c.2186C>T c.(2185-2187)tCc>tTc p.S729F SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA. 729 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGCATCTAAGGAAGCCATCAT 0.612000 51 9 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33704213 33704213 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:33704213C>T uc001uuw.3 - 4 727 c.601G>A c.(601-603)Gaa>Aaa p.E201K STARD13_uc001uuu.3_Missense_Mutation_p.E193K|STARD13_uc001uuv.3_Missense_Mutation_p.E83K|STARD13_uc001uux.3_Missense_Mutation_p.E166K|STARD13_uc010abh.1_Missense_Mutation_p.E186K|STARD13_uc021rhz.1_Missense_Mutation_p.E193K|STARD13_uc021ria.1_Missense_Mutation_p.E83K NM_178006 NP_443083 Q9Y3M8 STA13_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA. 201 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CCACTGCTTTCGCTGTGAATG 0.627000 24 6 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128520663 128520663 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:128520663G>A uc002tpg.2 - 6 896 c.697C>T c.(697-699)Cgt>Tgt p.R233C WDR33_uc002tph.2_Missense_Mutation_p.R233C|WDR33_uc002tpi.2_3'UTR NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA. 233 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TCATGGCAACGAAGAAAGTCC 0.403000 41 5 0 0 1 0 0 R3HDM2 22864 broad.mit.edu 37 12 57648645 57648645 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:57648645G>A uc009zpm.1 - 21 2877 c.2842C>T c.(2842-2844)Cgt>Tgt p.R948C R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Missense_Mutation_p.R643C|R3HDM2_uc001snr.2_Missense_Mutation_p.R675C|R3HDM2_uc001sns.2_Missense_Mutation_p.R948C|R3HDM2_uc001snt.2_Missense_Mutation_p.R962C NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN Homo sapiens R3H domain containing 2 (R3HDM2), mRNA. 948 nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 TTGTTGAGACGAAGGGAGGCA 0.567000 69 5 0 0 1 0 0 LOC100101266 100101266 broad.mit.edu 37 19 24345721 24345721 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:24345721C>T uc010edb.1 - 0 c.529G>A Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA. TTGAAATGCTCGTTGTTGTTG 0.453000 103 8 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19329750 19329750 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:19329750G>A uc002nlz.3 + 2 199 c.100G>A c.(100-102)Gaa>Aaa p.E34K NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 34 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CGATGCCAGCGAAAGGGGGCT 0.607000 29 7 0 0 1 0 0 AC2 0 broad.mit.edu 37 1 151993827 151993827 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:151993827C>T uc001ezm.1 + 9 c.2662C>T Homo sapiens AC2 pseudogene, precursor RNA sequence. GGGCTGCAGGCTGACAGAGAA 0.577000 24 3 0 0 1 0 0 KLF10 7071 broad.mit.edu 37 8 103663505 103663505 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:103663505G>A uc011lhk.1 - 2 1209 c.1055C>T c.(1054-1056)cCt>cTt p.P352L KLF10_uc011lhj.1_Missense_Mutation_p.P341L NM_005655 NP_005646 Q13118 KLF10_HUMAN Homo sapiens Kruppel-like factor 10 (KLF10), transcript variant 1, mRNA. 352 cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3) 18 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) TGCTGCTGAAGGGGAAAACCC 0.517000 79 9 0 0 1 0 0 PHF13 148479 broad.mit.edu 37 1 6680349 6680349 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:6680349C>T uc001aob.4 + 2 999 c.628C>T c.(628-630)Cga>Tga p.R210* NM_153812 NP_722519 Q86YI8 PHF13_HUMAN Homo sapiens PHD finger protein 13 (PHF13), mRNA. 210 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding p.R210*(2)|p.R210L(1) endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) GGTGGTGTTCCGAGATGAGGA 0.507000 34 10 0 0 1 0 0 ULBP3 79465 broad.mit.edu 37 6 150386655 150386655 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:150386655C>T uc003qns.3 - 2 588 c.507G>A c.(505-507)atG>atA p.M169I ULBP3_uc011eej.1_Missense_Mutation_p.M44I|ULBP3_uc011eek.1_Missense_Mutation_p.M120I NM_024518 NP_078794 Q9BZM4 N2DL3_HUMAN Homo sapiens UL16 binding protein 3 (ULBP3), mRNA. 169 MHC class I alpha-2 like. antigen processing and presentation|immune response|natural killer cell activation MHC class I protein complex|anchored to membrane MHC class I receptor activity central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 9 Ovarian(120;0.12) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.45e-12) ACTTCTCTTTCATCCGCCTGG 0.517000 98 20 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37729474 37729474 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:37729474G>A uc003xkm.2 - 3 2902 c.2846C>T c.(2845-2847)tCt>tTt p.S949F RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Missense_Mutation_p.S278F|RAB11FIP1_uc003xko.1_Missense_Mutation_p.S278F|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA. 949 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CATGATTGGAGATTTAAAATC 0.458000 73 6 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13766175 13766175 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:13766175C>T uc003jfd.2 - 58 10053 c.10011G>A c.(10009-10011)gtG>gtA p.V3337V DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3337 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GGTCAATTTTCACAGCACTGA 0.493000 Kartagener syndrome 46 6 0 0 1 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51647820 51647821 + Missense_Mutation DNP CC TT TT rs144612094 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:51647820_51647821CC>TT uc002pvv.1 + 1 660_661 c.591_592CC>TT c.(589-594)acccgc>acTTgc p.R198C SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA. 198 Ig-like C2-type 1. cell adhesion integral to plasma membrane receptor activity|sugar binding p.T197T(2) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) CCTCCACCACCCGCTCCTCAGT 0.663000 78 11 0 0 1 0 0 CAPN2 824 broad.mit.edu 37 1 223934850 223934850 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:223934850C>T uc001hob.4 + 4 936 c.712C>T c.(712-714)Ctt>Ttt p.L238F CAPN2_uc010puy.2_Missense_Mutation_p.L160F NM_001748 NP_001139540 P17655 CAN2_HUMAN Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA. 238 Calpain catalytic. proteolysis cytoplasm|plasma membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) AGGCTCTCTCCTTGGCTGCTC 0.562000 81 16 0 0 1 0 0 AKT2 208 broad.mit.edu 37 19 40746009 40746009 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:40746009G>A uc002onf.3 - 6 881 c.582C>T c.(580-582)gtC>gtT p.V194V AKT2_uc010egs.3_Silent_p.V194V|AKT2_uc010xvj.2_Silent_p.V132V|AKT2_uc010egt.3_Silent_p.V132V|AKT2_uc010egu.2_Silent_p.V132V|AKT2_uc010xvk.1_Silent_p.V194V|AKT2_uc002one.3_Silent_p.V90V NM_001626 NP_001229957 P31751 AKT2_HUMAN Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA. 194 Protein kinase. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) CTGTGTGAGCGACTTCATCCT 0.622000 A """ovarian, pancreatic """ 249 40 0 0 1 0 0 GCK 2645 broad.mit.edu 37 7 44189425 44189425 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:44189425C>T uc003tkl.2 - 5 1083 c.613G>A c.(613-615)Gac>Aac p.D205N GCK_uc003tkj.1_Missense_Mutation_p.D204N|GCK_uc003tkk.1_Missense_Mutation_p.D206N NM_000162 NP_000153 P35557 HXK4_HUMAN Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA. 205 Substrate binding. cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 GCCACCGTGTCATTCACCATT 0.572000 475 38 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72189926 72189926 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:72189926G>A uc002atl.4 - 24 5391 c.4918C>T c.(4918-4920)Cgc>Tgc p.R1640C MYO9A_uc010biq.3_Missense_Mutation_p.R1260C|MYO9A_uc002atn.1_Missense_Mutation_p.R1621C|MYO9A_uc002atk.3_Missense_Mutation_p.R364C|MYO9A_uc002atm.1_Missense_Mutation_p.R364C NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN Homo sapiens myosin IXA (MYO9A), mRNA. 1640 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TTTGAAATGCGATTATTTGAG 0.428000 21 9 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126372516 126372516 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:126372516G>A uc003ifj.4 + 8 10345 c.10345G>A c.(10345-10347)Gaa>Aaa p.E3449K FAT4_uc011cgp.2_Missense_Mutation_p.E1747K|FAT4_uc003ifi.1_Missense_Mutation_p.E927K NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 3449 Cadherin 33. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATCAGGGAATGAAAATGGTGC 0.463000 20 5 0 0 1 0 0 PNMAL2 57469 broad.mit.edu 37 19 46997267 46997267 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:46997267C>T uc002pes.2 - 0 1903 c.1456G>A c.(1456-1458)Gag>Aag p.E486K LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_5'Flank NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN Homo sapiens PNMA-like 2 (PNMAL2), mRNA. 486 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) GCCAATACCTCCCCCAGTTTG 0.622000 98 10 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22040791 22040791 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:22040791G>A uc001rfh.3 - 12 1900 c.1880C>T c.(1879-1881)cCt>cTt p.P627L ABCC9_uc001rfi.1_Missense_Mutation_p.P627L NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 627 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.P627S(1) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GGACTCAAAAGGAAGCGAACT 0.393000 37 9 0 0 1 0 0 CD5 921 broad.mit.edu 37 11 60885712 60885712 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:60885712G>A uc009ynk.3 + 2 263 c.160G>A c.(160-162)Gac>Aac p.D54N NM_014207 NP_055022 P06127 CD5_HUMAN Homo sapiens CD5 molecule (CD5), mRNA. 54 SRCR 1. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) CTACCTCAAGGACGGATGGCA 0.617000 128 9 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6195421 6195421 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:6195421C>T uc001amb.2 - 17 2850 c.2739G>A c.(2737-2739)aaG>aaA p.K913K CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA. 913 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TCTGGTCTTCCTTGGAGATGT 0.592000 61 5 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21712069 21712069 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:21712069G>A uc001rfb.3 - 9 1519 c.1264C>T c.(1264-1266)Cga>Tga p.R422* NM_021957 NP_068776 P54840 GYS2_HUMAN Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA. 422 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 AGATCATCTCGATCTAAAATA 0.333000 21 6 0 0 1 0 0 SSTR4 6754 broad.mit.edu 37 20 23016468 23016468 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:23016468C>T uc002wsr.2 + 0 412 c.348C>T c.(346-348)tcC>tcT p.S116S NM_001052 NP_001043 P31391 SSR4_HUMAN Homo sapiens somatostatin receptor 4 (SSTR4), mRNA. 116 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) CCTTCGGCTCCGTGCTGTGCC 0.667000 74 13 0 0 1 0 0 DRD2 1813 broad.mit.edu 37 11 113287661 113287661 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:113287661G>A uc001pnz.3 - 2 777 c.456C>T c.(454-456)gtC>gtT p.V152V DRD2_uc010rwv.2_Silent_p.V151V|DRD2_uc001poa.4_Silent_p.V152V|DRD2_uc001pob.4_Silent_p.V152V|DRD2_uc009yyr.1_Silent_p.V152V NM_000795 NP_000786 P14416 DRD2_HUMAN Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA. 152 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) TCATGACGGTGACCCGGCGCT 0.582000 26 4 0 0 1 0 0 SYTL4 94121 broad.mit.edu 37 X 99955944 99955944 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:99955944C>T uc004egd.4 - 6 844 c.488G>A c.(487-489)gGt>gAt p.G163D SYTL4_uc010nnc.3_Missense_Mutation_p.G163D|SYTL4_uc004ege.4_Missense_Mutation_p.G163D|SYTL4_uc004egf.4_Missense_Mutation_p.G163D|SYTL4_uc004egg.4_Missense_Mutation_p.G163D NM_080737 NP_542775 Q96C24 SYTL4_HUMAN Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA. 163 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCAGATGTCACCCATCTGTGT 0.438000 61 19 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44079742 44079742 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:44079742C>T uc002rtq.3 + 5 789 c.699C>T c.(697-699)atC>atT p.I233I ABCG8_uc010yoa.2_Silent_p.I233I NM_022437 NP_071882 Q9H221 ABCG8_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA. 233 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GGAAAGGAATCCTTATTCTCG 0.612000 289 19 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089878 9089878 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9089878C>T uc002mkp.3 - 0 2141 c.1937G>A c.(1936-1938)gGt>gAt p.G646D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 646 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.G646S(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GACTGGGACACCGTTCGTGGC 0.567000 71 13 0 0 1 0 0 TCF7L1 83439 broad.mit.edu 37 2 85529619 85529619 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:85529619C>T uc002soy.3 + 4 763 c.538C>T c.(538-540)Cct>Tct p.P180S NM_031283 NP_112573 Q9HCS4 TF7L1_HUMAN Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA. 180 Pro-rich. Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 TAATAAAGTTCCTGTCGTTCA 0.517000 201 47 0 0 1 0 0 ANKMY1 51281 broad.mit.edu 37 2 241496659 241496659 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:241496659G>A uc010fzd.1 - 1 219 c.94C>T c.(94-96)Cct>Tct p.P32S ANKMY1_uc002vzb.1_Missense_Mutation_p.P32S|ANKMY1_uc002vzc.1_Missense_Mutation_p.P32S|ANKMY1_uc002vyz.1_Intron|ANKMY1_uc002vza.1_Missense_Mutation_p.P32S|ANKMY1_uc002vzd.1_Missense_Mutation_p.P32S|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_Intron|ANKMY1_uc002vzf.3_Intron|DUSP28_uc002vzg.3_5'Flank|DUSP28_uc002vzh.3_5'Flank NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA. 0 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) TCGGCAGCAGGGGTCTCGCCG 0.682000 OREG0015353 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 84 10 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53422283 53422283 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:53422283C>T uc001vhi.3 - 0 493 c.289G>A c.(289-291)Ggc>Agc p.G97S PCDH8_uc001vhj.3_Missense_Mutation_p.G97S NM_002590 NP_002581 O95206 PCDH8_HUMAN Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA. 97 Cadherin 1. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GGGGCCTGGCCACACAGCCGC 0.672000 36 11 0 0 1 0 0 TOP1MT 116447 broad.mit.edu 37 8 144406178 144406178 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:144406178G>A uc003yxz.3 - 6 970 c.951C>T c.(949-951)ttC>ttT p.F317F TOP1MT_uc011lkd.2_Silent_p.F219F|TOP1MT_uc011lke.2_Silent_p.F219F|TOP1MT_uc011lkf.2_Silent_p.F112F|TOP1MT_uc010mfd.1_Silent_p.F112F NM_052963 NP_443195 Q969P6 TOP1M_HUMAN Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA. 317 DNA topological change chromosome|mitochondrial nucleoid ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) CCTTATCGATGAAATACAGGG 0.612000 85 6 0 0 1 0 0 CPA5 93979 broad.mit.edu 37 7 130008274 130008274 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:130008274G>A uc010lmd.1 + 13 1767 c.1147G>A c.(1147-1149)Gac>Aac p.D383N CPA5_uc003vps.2_Missense_Mutation_p.D383N|CPA5_uc003vpt.2_Silent_p.S354S|CPA5_uc010lme.1_Missense_Mutation_p.D383N|CPA5_uc003vpu.1_Missense_Mutation_p.D383N|AK097910_uc003vpv.1_Non-coding_Transcript NM_001127441 NP_525124 Q8WXQ8 CBPA5_HUMAN Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA. 383 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) GATCACCGTCGACTGGGCCTA 0.557000 100 26 0 0 1 0 0 QARS 5859 broad.mit.edu 37 3 49140834 49140834 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:49140834G>A uc003cvx.3 - 4 465 c.460C>T c.(460-462)Cgg>Tgg p.R154W QARS_uc011bcd.2_Missense_Mutation_p.R9W|QARS_uc003cvy.3_Missense_Mutation_p.R9W|QARS_uc011bce.2_Missense_Mutation_p.R143W|QARS_uc011bcf.1_Missense_Mutation_p.R154W NM_005051 NP_005042 P47897 SYQ_HUMAN Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA. 154 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding p.R154W(2) breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) AGCACAGCCCGAGCCTCTCCT 0.522000 83 7 0 0 1 0 0 ATP2A1 487 broad.mit.edu 37 16 28914725 28914725 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:28914725G>A uc002dro.1 + 20 3128 c.2944G>A c.(2944-2946)Gaa>Aaa p.E982K NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.E982K|ATP2A1_uc002drp.1_Missense_Mutation_p.E857K NM_173201 NP_775293 O14983 AT2A1_HUMAN Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA. 982 ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity p.D981D(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 TGGGCTCGACGAAATCCTCAA 0.612000 53 15 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92055879 92055879 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:92055879C>T uc001xzs.1 - 24 3096 c.2956_splice c.e24+1 p.K986_splice CATSPERB_uc010aub.1_Splice_Site_p.K508_splice NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 986 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) AAACCCTACTCAGTTTCCAGT 0.373000 33 7 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46931916 46931916 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:46931916G>A uc003bhw.1 - 0 1152 c.1152C>T c.(1150-1152)atC>atT p.I384I NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA. 384 Cadherin 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGTTGGCGTTGATGGGCGAGT 0.682000 22 6 0 0 1 0 0 GDF5 8200 broad.mit.edu 37 20 34022080 34022080 + Missense_Mutation SNP C T T rs121909350 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:34022080C>T uc010gfc.1 - 1 1374 c.1133G>A c.(1132-1134)cGa>cAa p.R378Q GDF5OS_uc002xcj.3_Missense_Mutation_p.S164L|GDF5_uc002xck.1_Missense_Mutation_p.R378Q NM_000557 NP_000548 P43026 GDF5_HUMAN Homo sapiens growth differentiation factor 5 (GDF5), mRNA. 378 R -> Q (in DPS). cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) CCGCCGTTTTCGCCGCTGGCT 0.577000 157 30 0 0 1 0 0 SEMA3F 6405 broad.mit.edu 37 3 50219775 50219775 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:50219775C>T uc003cyj.3 + 7 900 c.702C>T c.(700-702)ttC>ttT p.F234F SEMA3F_uc003cyk.3_Silent_p.F203F NM_004186 NP_004177 Q13275 SEM3F_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA. 234 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) CAGCCATCTTCCGCACACTTG 0.582000 102 4 0 0 1 0 0 ACTBL2 345651 broad.mit.edu 37 5 56778437 56778437 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:56778437G>A uc003jrm.3 - 0 200 c.98C>T c.(97-99)cCc>cTc p.P33L NM_001017992 NP_001017992 Q562R1 ACTBL_HUMAN Homo sapiens actin, beta-like 2 (ACTBL2), mRNA. 33 cytoplasm|cytoskeleton ATP binding breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2) 28 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) TATCATGGAGGGGAACACAGC 0.587000 10 3 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48262926 48262926 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:48262926G>A uc002iqm.3 - 50 4458 c.4332C>T c.(4330-4332)ccC>ccT p.P1444P DD181999_uc021tzy.1_5'Flank NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 1444 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) CAACGTCCAAGGGGGCCACAT 0.607000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 75 15 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059694 152059694 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152059694T>G uc001ezo.1 - 2 529 c.464A>C c.(463-465)aAc>aCc p.N155T NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA. 155 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GTCCACTCTGTTATTTCCAAC 0.453000 36 5 0 0 1 0 0 SSBP4 170463 broad.mit.edu 37 19 18538197 18538197 + Silent SNP C T T rs150017206 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:18538197C>T uc002niy.3 + 1 409 c.96C>T c.(94-96)atC>atT p.I32I SSBP4_uc010ebp.3_Silent_p.I32I|SSBP4_uc002niz.3_Silent_p.I32I NM_032627 NP_116016 Q9BWG4 SSBP4_HUMAN Homo sapiens single stranded DNA binding protein 4 (SSBP4), transcript variant 1, mRNA. 32 LisH. nucleus single-stranded DNA binding endometrium(2)|kidney(1)|skin(1) 4 TGCTGCACATCGGTGCCCAGA 0.637000 34 14 0 0 1 0 0 MTHFD1 4522 broad.mit.edu 37 14 64896946 64896946 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:64896946G>A uc001xhb.3 + 12 1696 c.1309G>A c.(1309-1311)Gag>Aag p.E437K MTHFD1_uc010aqe.2_Missense_Mutation_p.E473K|MTHFD1_uc010aqf.3_Missense_Mutation_p.E493K NM_005956 NP_005947 P11586 C1TC_HUMAN Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA. 437 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) TCCTATGGAAGAGGTAAAGTA 0.512000 OREG0022729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 69 7 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52548993 52548993 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:52548993G>A uc001vfw.2 - 1 520 c.363C>T c.(361-363)ttC>ttT p.F121F ATP7B_uc001vfy.2_Silent_p.F121F|ATP7B_uc010adv.2_Silent_p.F121F|ATP7B_uc001vfx.2_Silent_p.F121F|ATP7B_uc010tgt.1_Silent_p.F121F|ATP7B_uc010tgu.1_Silent_p.F121F|ATP7B_uc010tgv.1_Silent_p.F121F|ATP7B_uc010tgw.1_Silent_p.F89F NM_000053 NP_000044 P35670 ATP7B_HUMAN Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA. 121 HMA 1. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) TGCTGGCCTCGAAGCCCATGT 0.582000 Wilson disease 51 8 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24924268 24924268 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:24924268C>T uc001ywo.3 + 0 3728 c.3254C>T c.(3253-3255)gCc>gTc p.A1085V NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 1085 cell differentiation|multicellular organismal development|spermatogenesis p.A1084V(1) NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) ACTTCTGCTGCCGCCTACATT 0.542000 67 9 0 0 1 0 0 KCTD6 200845 broad.mit.edu 37 3 58487097 58487097 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:58487097C>T uc003dkj.4 + 2 569 c.452C>T c.(451-453)tCc>tTc p.S151F KCTD6_uc003dkk.4_Missense_Mutation_p.S151F NM_001128214 NP_699162 Q8NC69 KCTD6_HUMAN Homo sapiens potassium channel tetramerisation domain containing 6 (KCTD6), transcript variant 2, mRNA. 151 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|large_intestine(2)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148) AAGGTCCATTCCTTACTAGAA 0.433000 38 9 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23825179 23825179 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:23825179C>T uc003sws.4 + 17 2298 c.2231C>T c.(2230-2232)cCt>cTt p.P744L STK31_uc003swt.4_Missense_Mutation_p.P721L|STK31_uc011jze.2_Missense_Mutation_p.P744L|STK31_uc010kuq.3_Missense_Mutation_p.P721L|STK31_uc003swv.1_5'Flank NM_031414 NP_116562 Q9BXU1 STK31_HUMAN Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA. 744 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AGCAAGCGTCCTTTGGTACGT 0.433000 31 9 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62550251 62550251 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:62550251G>A uc001dab.3 + 32 4422 c.4308G>A c.(4306-4308)atG>atA p.M1436I INADL_uc009waf.1_Missense_Mutation_p.M1436I|INADL_uc001daa.2_Missense_Mutation_p.M1436I|INADL_uc001dad.3_Missense_Mutation_p.M1133I|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.M220I|INADL_uc009wag.3_Missense_Mutation_p.M220I|INADL_uc010oou.1_Missense_Mutation_p.M109I NM_176877 NP_795352 Q8NI35 INADL_HUMAN Homo sapiens InaD-like (Drosophila) (INADL), mRNA. 1436 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GACAGGAAATGATTATAGAAA 0.468000 66 7 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61495703 61495703 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:61495703C>T uc002jal.4 + 23 3974 c.3951C>T c.(3949-3951)gcC>gcT p.A1317A TANC2_uc010wpe.2_Intron|TANC2_uc002jao.4_Silent_p.A428A NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA. 1317 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CTACTAAGGCCCTGGAGCTGA 0.443000 16 7 0 0 1 0 0 MOSPD3 64598 broad.mit.edu 37 7 100212532 100212532 + Nonsense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:100212532T>A uc003uvq.3 + 4 756 c.554T>A c.(553-555)tTg>tAg p.L185* MOSPD3_uc003uvr.3_Nonsense_Mutation_p.L185*|MOSPD3_uc003uvs.3_Nonsense_Mutation_p.L185*|MOSPD3_uc003uvt.3_Nonsense_Mutation_p.L175* NM_001040097 NP_076438 O75425 MSPD3_HUMAN Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA. 185 integral to membrane structural molecule activity breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CTCCTCTTCTTGCTGACGGGG 0.622000 73 26 0 0 1 0 0 ROBO3 64221 broad.mit.edu 37 11 124750327 124750327 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:124750327C>T uc001qbc.3 + 26 4141 c.3972C>T c.(3970-3972)ctC>ctT p.L1324L ROBO3_uc001qbd.2_Silent_p.L249L|ROBO3_uc010sar.2_Silent_p.L373L|ROBO3_uc001qbe.3_Silent_p.L249L|ROBO3_uc001qbf.1_Silent_p.L208L NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA. 1324 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) AGGCCTGGCTCCCATACAGCA 0.637000 17 4 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74623378 74623378 + Silent SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:74623378C>A uc002axo.3 + 13 1996 c.1602C>A c.(1600-1602)gcC>gcA p.A534A CCDC33_uc002axp.3_Silent_p.A356A|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Silent_p.A127A|CCDC33_uc002axr.3_Silent_p.A127A NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA. 737 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AGCCACAGGCCGCTCTGCTGA 0.612000 24 4 0.150653 0.151351 1 1 0 CCS 9973 broad.mit.edu 37 11 66366651 66366651 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:66366651C>T uc001oir.3 + 2 220 c.177C>T c.(175-177)agC>agT p.S59S NM_005125 NP_005116 O14618 CCS_HUMAN Homo sapiens copper chaperone for superoxide dismutase (CCS), mRNA. 59 HMA. intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals cytosol|mitochondrial inner membrane|nucleus|soluble fraction copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1) 9 CTCTACCCAGCCAGGAGGTGC 0.627000 77 5 0 0 1 0 0 HEMGN 55363 broad.mit.edu 37 9 100692631 100692631 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:100692631G>A uc004axy.3 - 2 1154 c.1046C>T c.(1045-1047)tCt>tTt p.S349F HEMGN_uc004axz.3_Missense_Mutation_p.S349F NM_197978 NP_932095 Q9BXL5 HEMGN_HUMAN Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA. 349 cell differentiation|multicellular organismal development NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(62;0.0559) ATAGTCTTCAGAATGAGGTGT 0.363000 123 11 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26224821 26224821 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:26224821G>A uc003abz.1 + 14 3115 c.2865G>A c.(2863-2865)caG>caA p.Q955Q MYO18B_uc003aca.1_Silent_p.Q836Q|MYO18B_uc010guy.1_Silent_p.Q836Q|MYO18B_uc010guz.1_Silent_p.Q836Q|MYO18B_uc011aka.1_Silent_p.Q109Q|MYO18B_uc011akb.1_Silent_p.Q468Q NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 955 Myosin head-like. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCCGGCACCAGGGCAAGGACC 0.607000 78 6 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50659030 50659030 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:50659030C>T uc003bkb.1 - 15 4270 c.3758G>A c.(3757-3759)gGg>gAg p.G1253E TUBGCP6_uc003bka.1_Missense_Mutation_p.G340E|TUBGCP6_uc010har.1_Missense_Mutation_p.G1245E|TUBGCP6_uc010has.1_Non-coding_Transcript NM_020461 NP_065194 Q96RT7 GCP6_HUMAN Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA. 1253 9 X 27 AA tandem repeats. G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CACAGGCTCCCCCAAGCTGAT 0.632000 39 4 0 0 1 0 0 SLC16A10 117247 broad.mit.edu 37 6 111494003 111494003 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:111494003C>T uc003pus.3 + 1 624 c.449C>T c.(448-450)gCt>gTt p.A150V SLC16A10_uc003pur.4_Missense_Mutation_p.A150V NM_018593 NP_061063 Q8TF71 MOT10_HUMAN Homo sapiens solute carrier family 16, member 10 (aromatic amino acid transporter) (SLC16A10), mRNA. 150 aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport basolateral plasma membrane|integral to membrane amino acid transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2) 12 all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466) OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132) GTGGGTGCTGCTGTTGGATTT 0.413000 80 7 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111785569 111785569 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:111785569G>A uc001tsa.2 + 21 4055 c.3901G>A c.(3901-3903)Gaa>Aaa p.E1301K NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 1301 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GATCAAGCAGGAACAGATGGA 0.612000 27 5 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7798259 7798259 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:7798259T>A uc001aoi.3 + 15 4106 c.3899T>A c.(3898-3900)cTc>cAc p.L1300H CAMTA1_uc010nzv.1_Missense_Mutation_p.L387H|CAMTA1_uc001aok.4_Missense_Mutation_p.L343H|CAMTA1_uc001aoj.3_Missense_Mutation_p.L256H NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA. 1300 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.L1300F(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) AGCCGGGAACTCTCCCCTCCC 0.512000 T WWTR1 epitheliod hemangioendothelioma 25 7 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70332747 70332747 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:70332747G>A uc001oqc.3 - 20 3565 c.3453C>T c.(3451-3453)gcC>gcT p.A1151A SHANK2_uc010rqn.2_Silent_p.A627A|SHANK2_uc001opz.3_Silent_p.A622A|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 838 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) AGAGTGCCAGGGCCAGCGGGG 0.642000 72 5 0 0 1 0 0 TTC30A 92104 broad.mit.edu 37 2 178482772 178482772 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:178482772G>A uc002ulo.3 - 0 923 c.658C>T c.(658-660)Cgc>Tgc p.R220C NM_152275 NP_689488 Q86WT1 TT30A_HUMAN Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA. 220 cell projection organization cilium binding autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) GGATGCTGGCGGATGCCACGC 0.542000 44 4 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17131301 17131301 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:17131301C>T uc011awc.2 + 6 3353 c.3257C>T c.(3256-3258)tCa>tTa p.S1086L PLCL2_uc011awd.2_Missense_Mutation_p.S968L NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA. 1094 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GCTGCTGTTTCATGTGGACTG 0.413000 30 8 0 0 1 0 0 ZMYND15 84225 broad.mit.edu 37 17 4646744 4646744 + Missense_Mutation SNP C T T rs145250532 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:4646744C>T uc002fyu.2 + 4 1321 c.1291C>T c.(1291-1293)Cgc>Tgc p.R431C ZMYND15_uc002fyv.2_Missense_Mutation_p.R431C|ZMYND15_uc002fyt.2_Missense_Mutation_p.R431C NM_001136046 NP_001129518 Q9H091 ZMY15_HUMAN Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA. 431 zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 CAGCCTTCTTCGCGGTGGTGC 0.622000 128 7 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46920971 46920971 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:46920971C>T uc001ndn.4 - 4 757 c.514G>A c.(514-516)Gac>Aac p.D172N LRP4_uc009ylh.2_Missense_Mutation_p.D123N NM_002334 NP_002325 O75096 LRP4_HUMAN Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA. 172 LDL-receptor class A 4. Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) TCTTTGCAGTCGGTGTCACCG 0.582000 84 11 0 0 1 0 0 SMG5 23381 broad.mit.edu 37 1 156230268 156230268 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:156230268G>A uc001foc.4 - 14 2406 c.2257C>T c.(2257-2259)Cgg>Tgg p.R753W NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA. 753 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) AGCAGGGGCCGATCCGTGTCA 0.557000 136 15 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152129151 152129151 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152129151C>T uc001ezs.1 - 2 489 c.424G>A c.(424-426)Gga>Aga p.G142R NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN Homo sapiens repetin (RPTN), mRNA. 142 Gln-rich. proteinaceous extracellular matrix calcium ion binding p.G142*(2) breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TGGGAATCTCCGTCTTGTCTC 0.522000 71 8 0 0 1 0 0 FOXJ2 55810 broad.mit.edu 37 12 8192670 8192670 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:8192670C>T uc001qtu.3 + 1 1327 c.242C>T c.(241-243)tCc>tTc p.S81F FOXJ2_uc001qtt.1_Missense_Mutation_p.S81F NM_018416 NP_060886 Q9P0K8 FOXJ2_HUMAN Homo sapiens forkhead box J2 (FOXJ2), mRNA. 81 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) GCCATCAACTCCTCTCCAGCC 0.517000 63 8 0 0 1 0 0 GRB7 2886 broad.mit.edu 37 17 37898851 37898852 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:37898851_37898852CC>TT uc002hsr.3 + 2 463_464 c.188_189CC>TT c.(187-189)tcc>tTT p.S63F GRB7_uc002hss.3_Missense_Mutation_p.S63F|GRB7_uc021twu.1_Missense_Mutation_p.S86F|GRB7_uc010cwc.3_Missense_Mutation_p.S63F|GRB7_uc002hst.3_Missense_Mutation_p.S63F NM_005310 NP_005301 Q14451 GRB7_HUMAN Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA. 63 blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CGTGCCACCTCCCTCCCCTCTA 0.624000 130 11 0 0 1 0 0 RGR 5995 broad.mit.edu 37 10 86018296 86018296 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:86018296G>A uc001kdd.1 + 6 827 c.789G>A c.(787-789)acG>acA p.T263T RGR_uc001kdc.1_Silent_p.T259T|RGR_uc001kde.1_Silent_p.T221T NM_002921 NP_002912 P47804 RGR_HUMAN Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA. 259 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 17 TGGTGCCCACGATCAATGCCA 0.542000 66 8 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48757187 48757187 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:48757187G>A uc002isl.3 + 25 3814 c.3734G>A c.(3733-3735)cGa>cAa p.R1245Q ABCC3_uc002isn.3_5'UTR NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 1245 ABC transmembrane type-1 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TGGATGATACGAATGATGTCA 0.527000 59 5 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50833529 50833529 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:50833529C>T uc001jhz.2 + 5 916 c.763C>T c.(763-765)Ccc>Tcc p.P255S CHAT_uc001jhv.1_Missense_Mutation_p.P137S|CHAT_uc001jhx.1_Missense_Mutation_p.P137S|CHAT_uc001jhy.1_Missense_Mutation_p.P137S|CHAT_uc001jia.2_Missense_Mutation_p.P173S|CHAT_uc010qgs.1_Missense_Mutation_p.P137S NM_020549 NP_066266 P28329 CLAT_HUMAN Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA. 255 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CCACTCCATTCCCACTGACTG 0.572000 24 6 0 0 1 0 0 WDR66 144406 broad.mit.edu 37 12 122439469 122439469 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:122439469G>A uc009zxk.3 + 20 3461 c.3302G>A c.(3301-3303)gGa>gAa p.G1101E NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA. 1101 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) AATCCCGAGGGATGGAAATCC 0.498000 68 7 0 0 1 0 0 LINS 55180 broad.mit.edu 37 15 101109521 101109521 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:101109521G>A uc002bwg.3 - 6 2419 c.2196C>T c.(2194-2196)ttC>ttT p.F732F LINS_uc002bwd.3_Silent_p.F319F NM_001040616 NP_001035706 Q8NG48 LINES_HUMAN Homo sapiens lines homolog (Drosophila) (LINS), transcript variant 6, mRNA. 732 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 GATTATATGGGAAAAGATTTT 0.318000 52 5 0 0 1 0 0 TBX21 30009 broad.mit.edu 37 17 45822518 45822518 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:45822518G>A uc002ilv.1 + 5 1605 c.1394G>A c.(1393-1395)gGa>gAa p.G465E NM_013351 NP_037483 Q9UL17 TBX21_HUMAN Homo sapiens T-box 21 (TBX21), mRNA. 465 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 22 GGCTCAGAGGGACGGGGACCA 0.657000 29 5 0 0 1 0 0 NEURL 9148 broad.mit.edu 37 10 105330665 105330665 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:105330665G>A uc001kxh.3 + 1 532 c.122G>A c.(121-123)cGa>cAa p.R41Q NEURL_uc021pxn.1_Missense_Mutation_p.R24Q NM_004210 NP_004201 O76050 NEU1A_HUMAN Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA. 41 nervous system development perinuclear region of cytoplasm zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) ACTTCTCACCGATGCCACCAC 0.652000 196 42 0 0 1 0 0 SCARA3 51435 broad.mit.edu 37 8 27528508 27528509 + Missense_Mutation DNP CA AC AC TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:27528508_27528509CA>AC uc003xga.1 + 5 1602_1603 c.1461_1462CA>AC c.(1459-1464)ggcagc>ggACgc p.S488R SCARA3_uc003xgb.1_Intron NM_016240 NP_057324 Q6AZY7 SCAR3_HUMAN Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA. 488 Collagen-like 1. S -> I (in Ref. 1; BAA86201). UV protection|response to oxidative stress Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane scavenger receptor activity breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 9 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148) GAGACCCCGGCAGCTTGGGCCC 0.678000 77 7 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76451898 76451898 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:76451898G>A uc010dhp.2 - 62 10123 c.9998C>T c.(9997-9999)tCg>tTg p.S3333L DNAH17_uc002jvs.3_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GATGTTTTCCGATGCTAATCC 0.557000 26 6 0 0 1 0 0 PDLIM3 27295 broad.mit.edu 37 4 186427719 186427719 + Silent SNP C A A rs146946948 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:186427719C>A uc003ixw.4 - 5 874 c.750G>T c.(748-750)tcG>tcT p.S250S PDLIM3_uc003ixx.4_Silent_p.S202S|PDLIM3_uc010isi.3_Non-coding_Transcript NM_014476 NP_055291 Q53GG5 PDLI3_HUMAN Homo sapiens PDZ and LIM domain 3 (PDLIM3), transcript variant 1, mRNA. 250 sarcomere zinc ion binding breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) TGAAGGAGCCCGACTGGCGAG 0.632000 53 4 1 1 1 1 0 PYGB 5834 broad.mit.edu 37 20 25255248 25255248 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:25255248G>A uc002wup.3 + 4 658 c.549G>A c.(547-549)tgG>tgA p.W183* NM_002862 NP_002853 P11216 PYGB_HUMAN Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA. 183 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) CCGATGACTGGCTGCGCTACG 0.652000 67 4 0 0 1 0 0 PRPS2 5634 broad.mit.edu 37 X 12838920 12838920 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:12838920C>T uc004cva.3 + 5 1014 c.871C>T c.(871-873)Cag>Tag p.Q291* PRPS2_uc004cvb.3_Nonsense_Mutation_p.Q288*|PRPS2_uc010nec.3_Nonsense_Mutation_p.Q166* NM_001039091 NP_001034180 P11908 PRPS2_HUMAN Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA. 288 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 16 CACCAAGATTCAGGTACTGTC 0.448000 17 5 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145561886 145561886 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:145561886C>T uc001eob.1 + 9 1682 c.1574C>T c.(1573-1575)cCc>cTc p.P525L ANKRD35_uc010oyx.1_Missense_Mutation_p.P368L NM_144698 NP_653299 Q8N283 ANR35_HUMAN Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA. 525 p.P525A(1) NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTGGGGACTCCCCGTGCTGAG 0.617000 158 25 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218669221 218669221 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:218669221G>A uc002vgt.2 - 32 5567 c.5169C>T c.(5167-5169)ttC>ttT p.F1723F TNS1_uc002vgr.2_Silent_p.F1709F|TNS1_uc002vgs.2_Silent_p.F1702F|TNS1_uc002vgq.2_Silent_p.F223F NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN Homo sapiens tensin 1 (TNS1), mRNA. 1723 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CCTTGGAGACGAAGTTGACGA 0.637000 107 6 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42693441 42693441 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:42693441G>A uc010ggo.3 + 5 944 c.904G>A c.(904-906)Gca>Aca p.A302T TOX2_uc002xle.4_Missense_Mutation_p.A260T|TOX2_uc010ggp.3_Missense_Mutation_p.A260T|TOX2_uc002xlf.4_Intron|TOX2_uc010zwk.2_Missense_Mutation_p.A180T NM_001098797 NP_116272 Q96NM4 TOX2_HUMAN Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA. 302 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GACAGAAGCAGCAAAGAAGGA 0.567000 83 5 0 0 1 0 0 BPI 671 broad.mit.edu 37 20 36959481 36959481 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:36959481G>A uc002xib.2 + 11 1335 c.1273G>A c.(1273-1275)Ggc>Agc p.G425S NM_001725 NP_001716 P17213 BPI_HUMAN Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA. 425 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) CTCAAATATTGGCCCCTTCCC 0.562000 86 6 0 0 1 0 0 MIR365B 100126356 broad.mit.edu 37 17 29902513 29902513 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:29902513C>T uc021tus.1 + 0 c.84C>T mir-108-1_uc021tut.1_Non-coding_Transcript Homo sapiens microRNA 365b (MIR365B), microRNA. CCCTAAAAATCCTTATTGTTC 0.537000 37 5 0 0 1 0 0 ARHGEF3 50650 broad.mit.edu 37 3 56763596 56763596 + Missense_Mutation SNP G A A rs138677398 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:56763596G>A uc003dih.2 - 12 1489 c.1379C>T c.(1378-1380)tCg>tTg p.S460L ARHGEF3_uc011bew.1_Missense_Mutation_p.S428L|ARHGEF3_uc011bev.1_Missense_Mutation_p.S399L|ARHGEF3_uc003dif.2_Missense_Mutation_p.S434L|ARHGEF3_uc003dig.2_Missense_Mutation_p.S428L|ARHGEF3_uc010hmy.1_Missense_Mutation_p.S226L NM_001128615 NP_001122087 Q9NR81 ARHG3_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA. 428 Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) GGCTTGTAGCGAGTGGGTCTG 0.423000 69 6 0 0 1 0 0 FASLG 356 broad.mit.edu 37 1 172635073 172635073 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:172635073G>A uc001gis.3 + 3 920 c.763G>A c.(763-765)Gat>Aat p.D255N FASLG_uc001git.3_3'UTR NM_000639 NP_000630 P48023 TNFL6_HUMAN Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA. 255 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity p.D255N(2) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 TACCAGTGCTGATCATTTATA 0.473000 66 8 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022508 51022508 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:51022508G>A uc002pss.3 - 2 599 c.462C>T c.(460-462)ttC>ttT p.F154F NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA. 154 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) ACAGGTACTCGAAGGCCTGCG 0.657000 50 8 0 0 1 0 0 KCNG4 93107 broad.mit.edu 37 16 84270480 84270480 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:84270480C>T uc010voc.2 - 1 733 c.612G>A c.(610-612)atG>atA p.M204I KCNG4_uc002fhu.1_Missense_Mutation_p.M204I NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA. 204 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 GCAGCCGGTTCATGCACAGGC 0.682000 36 6 0 0 1 0 0 CCDC51 79714 broad.mit.edu 37 3 48474285 48474285 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:48474285G>A uc003ctc.3 - 3 801 c.769C>T c.(769-771)Cgc>Tgc p.R257C PLXNB1_uc003csx.2_5'Flank|CCDC51_uc021wxn.1_Missense_Mutation_p.R148C|CCDC51_uc003ctd.3_Missense_Mutation_p.R148C NM_024661 NP_078937 Q96ER9 CCD51_HUMAN Homo sapiens coiled-coil domain containing 51 (CCDC51), mRNA. 257 integral to membrane endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CTCTGCTGGCGGGAGTAGCTA 0.617000 89 6 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7520986 7520986 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:7520986G>A uc003jdz.1 + 2 611 c.544G>A c.(544-546)Gga>Aga p.G182R NM_020546 NP_065433 Q08462 ADCY2_HUMAN Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA. 182 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TGCAACACCGGGAGGCAAGGA 0.617000 90 6 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156135568 156135568 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:156135568G>A uc003ioq.3 + 1 966 c.477G>A c.(475-477)aaG>aaA p.K159K NPY2R_uc003ior.3_Silent_p.K159K|NPY2R_uc021xtm.1_Silent_p.K159K NM_000910 NP_000901 P49146 NPY2R_HUMAN Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA. 159 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) TAGAGAGCAAGATCTCCAAGC 0.557000 18 3 0 0 1 0 0 AXIN1 8312 broad.mit.edu 37 16 343592 343592 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:343592G>A uc002cgp.2 - 7 2471 c.2082C>T c.(2080-2082)acC>acT p.T694T LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Silent_p.T694T NM_003502 NP_003493 O15169 AXIN1_HUMAN Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA. 694 Interaction with HIPK2 (By similarity).|Interaction with PPP2CA.|Interaction with RNF111. Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding p.P693S(2) biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) GGGGTGGCATGGTGGGGTCTT 0.662000 150 18 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234854510 234854510 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:234854510T>C uc002vvh.3 + 6 750 c.710T>C c.(709-711)tTa>tCa p.L237S TRPM8_uc010fyj.3_5'UTR NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA. 237 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GGCTATTTTTTAGCCCAGTAC 0.378000 64 13 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70841887 70841887 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:70841887C>T uc002ezr.3 - 85 15110 c.14959G>A c.(14959-14961)Gaa>Aaa p.E4987K HYDIN_uc010cfy.3_Non-coding_Transcript NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 4988 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AATAAGACTTCCACACTGGCT 0.532000 38 6 0 0 1 0 0 TMEM130 222865 broad.mit.edu 37 7 98460784 98460784 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:98460784C>T uc003upo.3 - 1 514 c.325G>A c.(325-327)Gtc>Atc p.V109I TMEM130_uc011kiq.2_Missense_Mutation_p.V90I|TMEM130_uc011kir.2_Missense_Mutation_p.V109I|TMEM130_uc003upn.3_Intron NM_001134450 NP_001127922 Q8N3G9 TM130_HUMAN Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA. 109 Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GCGGCAGTGACCCAGACAGAG 0.622000 72 5 0 0 1 0 0 NUF2 83540 broad.mit.edu 37 1 163310176 163310176 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:163310176C>T uc001gcq.1 + 8 929 c.629C>T c.(628-630)tCc>tTc p.S210F NUF2_uc001gcr.1_Missense_Mutation_p.S210F NM_145697 NP_663735 Q9BZD4 NUF2_HUMAN Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA. 210 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 all_hematologic(923;0.101) GAGGGAAATTCCCAAAAGAAG 0.323000 71 9 0 0 1 0 0 CBLL1 79872 broad.mit.edu 37 7 107393942 107393942 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:107393942T>A uc003veq.3 + 2 598 c.268T>A c.(268-270)Ttt>Att p.F90I CBLL1_uc011kme.2_5'UTR|CBLL1_uc011kmf.2_Missense_Mutation_p.F89I NM_024814 NP_079090 Q75N03 HAKAI_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA. 90 cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 TGGACACCTTTTTTGGGACTT 0.284000 31 5 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9063773 9063773 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9063773G>A uc002mkp.3 - 2 23877 c.23673C>T c.(23671-23673)ttC>ttT p.F7891F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7893 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGATGTAGAGAACCAGCTGA 0.498000 37 4 0 0 1 0 0 MED20 9477 broad.mit.edu 37 6 41877043 41877043 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:41877043G>A uc003ork.3 - 2 508 c.387C>T c.(385-387)gtC>gtT p.V129V MED20_uc003orj.3_Silent_p.V64V|MED20_uc011duh.2_Intron|MED20_uc011dui.2_Intron|MED20_uc011duj.2_Silent_p.V64V NM_004275 NP_004266 Q9H944 MED20_HUMAN Homo sapiens mediator complex subunit 20 (MED20), mRNA. 129 regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter mediator complex DNA-directed RNA polymerase activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1) 5 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCCCCATTGTGACCGTGCCCA 0.562000 88 13 0 0 1 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42434730 42434730 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:42434730G>A uc001zoz.3 - 18 2417 c.2325C>T c.(2323-2325)gcC>gcT p.A775A PLA2G4F_uc010bcq.3_Silent_p.A72A|PLA2G4F_uc001zoy.3_Silent_p.A407A|PLA2G4F_uc001zpa.3_Silent_p.A526A|PLA2G4F_uc010bcr.3_Silent_p.A526A|PLA2G4F_uc010bcs.3_Silent_p.A562A NM_213600 NP_998765 Q68DD2 PA24F_HUMAN Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA. 775 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) CCTTACCTGGGGCCAGGTGTG 0.612000 50 5 0 0 1 0 0 ZNF45 7596 broad.mit.edu 37 19 44417558 44417558 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:44417558G>A uc002oxu.2 - 3 2129 c.2030C>T c.(2029-2031)tCa>tTa p.S677L ZNF45_uc002oxw.2_Missense_Mutation_p.S677L NM_003425 NP_003416 Q02386 ZNF45_HUMAN Homo sapiens zinc finger protein 45 (ZNF45), mRNA. 677 multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 TTTCCTGTGTGAATCCTCTGA 0.388000 19 6 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42784408 42784408 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:42784408C>T uc003cly.4 - 7 1051 c.967G>A c.(967-969)Gaa>Aaa p.E323K NM_144719 NP_653320 Q8IYE1 CCD13_HUMAN Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA. 323 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 TCCTGTTTTTCCCTTTCCAGG 0.562000 136 9 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31864597 31864597 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:31864597G>A uc003tcm.2 - 12 1751 c.1290C>T c.(1288-1290)ttC>ttT p.F430F PDE1C_uc003tcn.1_Silent_p.F430F|PDE1C_uc003tco.2_Silent_p.F490F|PDE1C_uc003tcr.3_Silent_p.F430F|PDE1C_uc003tcs.3_Silent_p.F430F NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 430 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TGAAATCAATGAAACCTGAAG 0.438000 12 3 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44945471 44945471 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:44945471G>A uc003coc.4 + 8 1140 c.1067G>A c.(1066-1068)cGa>cAa p.R356Q NM_003241 NP_003232 P49221 TGM4_HUMAN Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA. 356 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.R356R(1) NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) CCGCAGGAGCGAAGCCAGGGT 0.627000 69 7 0 0 1 0 0 ECEL1 9427 broad.mit.edu 37 2 233349187 233349187 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:233349187G>A uc002vsv.2 - 5 1384 c.1179C>T c.(1177-1179)ccC>ccT p.P393P ECEL1_uc010fya.1_Silent_p.P393P|ECEL1_uc010fyb.1_Silent_p.P100P NM_004826 NP_004817 O95672 ECEL1_HUMAN Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA. 393 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) CATACCGGTGGGGTGTGGAGC 0.582000 141 9 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47610066 47610067 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:47610066_47610067GG>AA uc001cqv.1 + 6 879_880 c.828_829GG>AA c.(826-831)aaggag>aaAAag p.E277K CYP4A22_uc009vyo.3_Missense_Mutation_p.E277K|CYP4A22_uc009vyp.3_Missense_Mutation_p.G225K NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA. 277 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AACTACAGAAGGAGGGGGAGCT 0.535000 91 4 0 0 1 0 0 TP53TG5 27296 broad.mit.edu 37 20 44005983 44005983 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:44005983C>T uc002xny.3 - 3 205 c.124_splice c.e3-1 p.V42_splice DBNDD2_uc002xnx.3_Intron NM_014477 NP_055292 Q9Y2B4 T53G5_HUMAN Homo sapiens TP53 target 5 (TP53TG5), mRNA. 42 intracellular signal transduction|negative regulation of cell growth cytoplasm|nucleus central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1) 12 TTTTTAACACCTGCCAGGGTC 0.542000 95 26 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196458978 196458978 + Nonsense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:196458978C>A uc001gtd.1 - 2 325 c.265G>T c.(265-267)Gga>Tga p.G89* KCNT2_uc001gte.1_Nonsense_Mutation_p.G89*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.G89*|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Nonsense_Mutation_p.G89*|KCNT2_uc009wyv.1_Nonsense_Mutation_p.G89* NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA. 89 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CATTCATTTCCTTGTGAAGGG 0.308000 52 8 0.00307968 0.00310426 1 1 0 INMT 11185 broad.mit.edu 37 7 30791781 30791781 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:30791781C>T uc003tbs.1 + 0 31 c.15C>T c.(13-15)ttC>ttT p.F5F FAM188B_uc010kwe.3_5'UTR|INMT_uc010kwc.1_Intron|INMT_uc010kwd.1_Silent_p.F5F NM_006774 NP_006765 O95050 INMT_HUMAN Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA. 5 cytoplasm amine N-methyltransferase activity kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1) 23 AGGGTGGCTTCACTGGGGGTG 0.582000 128 7 0 0 1 0 0 RRP12 23223 broad.mit.edu 37 10 99139496 99139496 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:99139496G>A uc001knf.3 - 13 1704 c.1565C>T c.(1564-1566)tCc>tTc p.S522F RRP12_uc009xvm.3_Missense_Mutation_p.S240F|RRP12_uc010qou.2_Missense_Mutation_p.S461F|RRP12_uc009xvn.3_Missense_Mutation_p.S422F NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA. 522 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) GAAATGAGGGGAGAGGCGCAG 0.602000 36 12 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44247922 44247922 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:44247922C>T uc003oxi.2 - 4 1658 c.1502G>A c.(1501-1503)gGa>gAa p.G501E TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA. 501 p.G501E(2) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GTCATTTTATCCCACAGAGTT 0.577000 123 6 0 0 1 0 0 OSTalpha 200931 broad.mit.edu 37 3 195953991 195953991 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:195953991G>A uc003fwd.3 + 3 489 c.288_splice c.e3+1 p.T96_splice OSTalpha_uc011btu.1_Missense_Mutation_p.V97M|OSTalpha_uc010iac.1_5'Flank|OSTalpha_uc003fwe.3_5'Flank NM_152672 NP_689885 Q86UW1 OSTA_HUMAN Homo sapiens organic solute transporter alpha (OSTalpha), mRNA. 96 integral to membrane|plasma membrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06) GBM - Glioblastoma multiforme(46;0.00202) GGCACCCACGGTGAGGCCCCC 0.577000 65 5 0 0 1 0 0 P2RY2 5029 broad.mit.edu 37 11 72945846 72945846 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:72945846C>T uc021qna.1 + 0 642 c.642C>T c.(640-642)atC>atT p.I214I P2RY2_uc001otk.3_Silent_p.I214I|P2RY2_uc001otj.3_Silent_p.I214I|P2RY2_uc001otl.3_Silent_p.I214I NM_176072 NP_788086 P41231 P2RY2_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA. 214 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) TTGCCGTCATCCTTGTCTGTT 0.642000 29 5 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75887433 75887433 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:75887433C>T uc021zbv.1 - 10 2418 c.2383G>A c.(2383-2385)Gaa>Aaa p.E795K COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.E795K|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.E453K NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 795 Fibronectin type-III 4. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GAGAAATATTCAGGAATTACA 0.433000 117 9 0 0 1 0 0 MARCH6 10299 broad.mit.edu 37 5 10382043 10382043 + Missense_Mutation SNP C T T rs138429990 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:10382043C>T uc003jet.1 + 3 505 c.322C>T c.(322-324)Cct>Tct p.P108S MARCH6_uc011cmu.1_Intron|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Intron NM_005885 NP_005876 O60337 MARH6_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA. 108 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 GGGAGTTGTTCCTCTTACAGC 0.338000 147 14 0 0 1 0 0 ZNHIT1 10467 broad.mit.edu 37 7 100865982 100865982 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:100865982C>T uc003uye.3 + 1 612 c.120C>T c.(118-120)ttC>ttT p.F40F ZNHIT1_uc003uyf.3_Non-coding_Transcript NM_006349 NP_006340 O43257 ZNHI1_HUMAN Homo sapiens zinc finger, HIT-type containing 1 (ZNHIT1), mRNA. 40 metal ion binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2) 11 Lung NSC(181;0.168)|all_lung(186;0.215) ATGACAACTTCCAGGATGACC 0.672000 93 7 0 0 1 0 0 C2orf51 200523 broad.mit.edu 37 2 88828842 88828842 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:88828842C>T uc002stb.2 + 3 535 c.393C>T c.(391-393)gaC>gaT p.D131D NM_152670 NP_689883 Q96LM6 TSC21_HUMAN Homo sapiens chromosome 2 open reading frame 51 (C2orf51), mRNA. 131 nucleus large_intestine(2)|lung(11)|prostate(1)|skin(1) 15 AGAGTGCTGACTTTCCGTGCC 0.572000 66 16 0 0 1 0 0 FASLG 356 broad.mit.edu 37 1 172628678 172628678 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:172628678G>A uc001gis.3 + 0 494 c.337G>A c.(337-339)Gaa>Aaa p.E113K FASLG_uc001git.3_Missense_Mutation_p.E113K NM_000639 NP_000630 P48023 TNFL6_HUMAN Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA. 113 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 GGAGCTGGCAGAACTCCGAGA 0.562000 25 5 0 0 1 0 0 HEATR4 399671 broad.mit.edu 37 14 73985833 73985833 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:73985833C>T uc021rwe.1 - 4 1452 c.1104G>A c.(1102-1104)aaG>aaA p.K368K HEATR4_uc021rwf.1_Silent_p.K321K|HEATR4_uc010tub.1_Silent_p.K368K NM_001220484 NP_001207413 Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA. breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) TCTGGTCTCTCTTTGCACCAA 0.463000 94 4 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7212938 7212938 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:7212938G>A uc009xio.2 - 19 2587 c.2496C>T c.(2494-2496)ttC>ttT p.F832F SFMBT2_uc001ijn.2_Silent_p.F832F|SFMBT2_uc010qay.2_Silent_p.F667F NM_001018039 NP_001018049 Q5VUG0 SMBT2_HUMAN Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA. 832 SAM. regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 TCAGCTTAATGAACCTCACCA 0.557000 101 6 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85521614 85521614 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:85521614G>A uc001tac.3 + 17 4123 c.4012G>A c.(4012-4014)Gca>Aca p.A1338T NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA. 1338 IQ 2. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TAATAGTATGGCAGCTGTGGT 0.393000 37 4 0 0 1 0 0 FAM13C 220965 broad.mit.edu 37 10 61112093 61112093 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:61112093G>A uc010qif.1 - 2 393 c.327C>T c.(325-327)ttC>ttT p.F109F FAM13C_uc010qid.2_Silent_p.F4F|FAM13C_uc001jkn.3_Silent_p.F87F|FAM13C_uc001jko.3_Silent_p.F87F|FAM13C_uc010qie.2_Silent_p.F4F|FAM13C_uc001jkp.3_Silent_p.F4F NM_198215 NP_937858 Q8NE31 FA13C_HUMAN Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA. 87 p.E109K(1) NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TCCTGGACTTGAAGTTGCCCA 0.592000 72 14 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53854720 53854720 + Nonsense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:53854720T>A uc010ydv.1 + 3 909 c.792T>A c.(790-792)tgT>tgA p.C264* ZNF845_uc010ydw.1_Nonsense_Mutation_p.C264* NM_138374 NP_612383 Q96IR2 ZN845_HUMAN Homo sapiens zinc finger protein 845 (ZNF845), mRNA. 264 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ATCGTAGATGTCACACTGGCA 0.398000 22 4 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90349472 90349472 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:90349472C>T uc002bop.4 - 1 635 c.343G>A c.(343-345)Gag>Aag p.E115K NM_001150 NP_001141 P15144 AMPN_HUMAN Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA. 115 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms ER-Golgi intermediate compartment|cytosol|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) TCAGTGGCCTCCTTGCAGGTG 0.612000 49 6 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56650616 56650616 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:56650616G>A uc010dcz.2 - 23 3693 c.3575C>T c.(3574-3576)tCt>tTt p.S1192F TEX14_uc002iwr.2_Missense_Mutation_p.S1186F|TEX14_uc002iws.2_Missense_Mutation_p.S1146F|TEX14_uc010dda.2_Missense_Mutation_p.S926F NM_001201457 NP_001188386 Q8IWB6 TEX14_HUMAN Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA. 1192 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTCCTTAAAAGAGCTGTCTGG 0.413000 200 23 0 0 1 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133667387 133667387 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:133667387G>A uc003eqa.4 - 7 1372 c.1098C>T c.(1096-1098)ttC>ttT p.F366F SLCO2A1_uc011blv.2_Silent_p.F185F NM_005630 NP_005621 Q92959 SO2A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA. 366 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 CACCAATGAGGAAGTTGGCAT 0.622000 107 9 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150445119 150445119 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:150445119C>T uc009wlr.3 + 10 3896 c.3695C>T c.(3694-3696)cCc>cTc p.P1232L RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Missense_Mutation_p.P1206L NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA. 1232 Pro-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CGAGATGCACCCACTCATCTA 0.577000 103 6 0 0 1 0 0 STAC3 246329 broad.mit.edu 37 12 57638321 57638321 + Splice_Site SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:57638321G>T uc001snp.2 - 9 1008 c.806_splice c.e9+1 p.P269_splice STAC3_uc009zpl.2_Splice_Site|STAC3_uc001snq.2_Splice_Site_p.P230_splice|STAC3_uc010srm.1_Splice_Site_p.P83_splice NM_145064 NP_659501 Q96MF2 STAC3_HUMAN Homo sapiens SH3 and cysteine rich domain 3 (STAC3), mRNA. 269 SH3 1. intracellular signal transduction identical protein binding|metal ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18 GCCTCTCACGGGAAATCCAGA 0.587000 159 26 7.38237e-10 7.48366e-10 1 1 0 SLC23A3 151295 broad.mit.edu 37 2 220026918 220026918 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:220026918G>A uc010zkr.2 - 11 1681 c.1570C>T c.(1570-1572)Ctt>Ttt p.L524F NHEJ1_uc002vjp.4_5'Flank|NHEJ1_uc002vjq.4_Non-coding_Transcript|SLC23A3_uc010zks.2_Missense_Mutation_p.L516F|SLC23A3_uc010fwb.3_Missense_Mutation_p.L399F NM_001144890 NP_001138362 Q6PIS1 S23A3_HUMAN Homo sapiens solute carrier family 23 (nucleobase transporters), member 3 (SLC23A3), transcript variant 3, mRNA. 516 transmembrane transport integral to membrane protein binding|transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 11 Renal(207;0.0474) Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTCGCTCAAGCTGTGTGCCT 0.572000 56 6 0 0 1 0 0 SLC40A1 30061 broad.mit.edu 37 2 190428764 190428764 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:190428764G>A uc002uqp.4 - 6 1299 c.948C>T c.(946-948)ttC>ttT p.F316F NM_014585 NP_055400 Q9NP59 S40A1_HUMAN Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA. 316 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) TCATATAAAGGAAAGCAAGAC 0.532000 25 4 0 0 1 0 0 COL9A3 1299 broad.mit.edu 37 20 61452568 61452568 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:61452568G>A uc002ydm.3 + 6 348 c.345_splice c.e6+1 p.G115_splice NM_001853 NP_001844 Q14050 CO9A3_HUMAN Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA. 115 Triple-helical region 3 (COL3). axon guidance collagen type IX breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) CCGGGCTGGGGGTGAGTATGG 0.627000 42 8 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119554781 119554781 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:119554781G>A uc001txa.2 + 3 793 c.405G>A c.(403-405)aaG>aaA p.K135K NM_194286 NP_919262 A7MD48 SRRM4_HUMAN Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA. 135 Lys-rich.|Ser-rich. RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 AGAAAAAGAAGAAGAAAAGTT 0.488000 34 4 0 0 1 0 0 TMEM164 84187 broad.mit.edu 37 X 109416618 109416618 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:109416618C>T uc004eom.3 + 6 1172 c.833C>T c.(832-834)gCt>gTt p.A278V TMEM164_uc004eon.2_Missense_Mutation_p.A129V|TMEM164_uc010npq.3_Missense_Mutation_p.A239V NM_032227 NP_060168 Q5U3C3 TM164_HUMAN Homo sapiens transmembrane protein 164 (TMEM164), transcript variant 2, mRNA. 278 integral to membrane cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1) 14 TCATACATGGCTGGGCCCTTG 0.507000 31 9 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65402493 65402493 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:65402493C>T uc001oey.2 + 29 4855 c.4855C>T c.(4855-4857)Cgc>Tgc p.R1619C PCNXL3_uc001oez.2_Missense_Mutation_p.R506C|MIR4690_uc021qln.1_5'Flank NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA. 1619 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 GGGGGATTTTCGCATCACCTC 0.622000 27 10 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56382491 56382491 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:56382491G>A uc002ivx.4 - 29 6346 c.5475C>T c.(5473-5475)ttC>ttT p.F1825F BZRAP1_uc002ivv.3_Silent_p.F55F|BZRAP1_uc002ivw.3_Silent_p.F57F|BZRAP1_uc010dcs.3_Silent_p.F1765F|BZRAP1_uc010wnt.2_Silent_p.F1816F NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1825 SH3 3. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGCCCTCCAGGAAGTTGGATG 0.632000 54 4 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27222527 27222527 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:27222527C>T uc003nja.3 + 9 1221 c.1206C>T c.(1204-1206)tcC>tcT p.S402S PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Silent_p.S145S|PRSS16_uc003njd.3_Intron NM_005865 NP_005856 Q9NQE7 TSSP_HUMAN Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA. 402 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CACTGCCCTCCCAGCTAGACC 0.577000 74 9 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5154030 5154030 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:5154030C>T uc001qni.3 + 0 946 c.717C>T c.(715-717)atC>atT p.I239I NM_002234 NP_002225 P22460 KCNA5_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA. 239 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity p.I239I(2) NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 TGTGGCTTATCTTCGAGTATC 0.602000 104 12 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6928183 6928183 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:6928183C>T uc002mfw.3 + 16 2288 c.2250C>T c.(2248-2250)ttC>ttT p.F750F EMR1_uc010dvc.3_Silent_p.F685F|EMR1_uc010dvb.3_Silent_p.F698F|EMR1_uc010xji.2_Silent_p.F609F|EMR1_uc010xjj.2_Silent_p.F573F NM_001974 NP_001965 Q14246 EMR1_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA. 750 cell adhesion|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding p.F750F(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) AGACAGGGTTCATCTGGAGTT 0.498000 116 18 0 0 1 0 0 USHBP1 83878 broad.mit.edu 37 19 17369153 17369153 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:17369153C>T uc002nfs.1 - 7 1201 c.1088G>A c.(1087-1089)cGg>cAg p.R363Q USHBP1_uc002nfr.1_5'UTR|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.R299Q NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA. 363 PDZ domain binding p.R363W(1)|p.R363R(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 GTCGGCCTCCCGCAGAGCAAG 0.592000 73 4 0 0 1 0 0 BTRC 8945 broad.mit.edu 37 10 103294527 103294527 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:103294527C>T uc001kta.3 + 9 1320 c.1207C>T c.(1207-1209)Cgt>Tgt p.R403C BTRC_uc001ktb.3_Missense_Mutation_p.R367C|BTRC_uc001ktc.3_Missense_Mutation_p.R377C NM_033637 NP_378663 Q9Y297 FBW1A_HUMAN Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA. 403 Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction SCF ubiquitin ligase complex|cytosol|nucleus endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 27 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) CTCCAAAGATCGTTCCATTGC 0.473000 140 19 0 0 1 0 0 LFNG 3955 broad.mit.edu 37 7 2559870 2559870 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:2559870C>T uc003smf.3 + 0 392 c.375C>T c.(373-375)ttC>ttT p.F125F LFNG_uc021zyw.1_Intron|LFNG_uc021zyx.1_Intron|LFNG_uc003smg.3_Silent_p.F125F NM_001040167 NP_001035257 Q8NES3 LFNG_HUMAN Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA. 125 organ morphogenesis extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.54e-14) CCAAAAAGTTCCACCGCGCGC 0.751000 41 6 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2811636 2811636 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:2811636C>T uc002crk.3 + 10 1656 c.1107C>T c.(1105-1107)ctC>ctT p.L369L SRRM2_uc002crj.1_Silent_p.L273L|SRRM2_uc002crl.1_Silent_p.L369L|SRRM2_uc010bsu.1_Silent_p.L273L NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 369 Pro-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CCACTCCGCTCCTTGCTGAGC 0.612000 110 8 0 0 1 0 0 USP17L2 377630 broad.mit.edu 37 8 11996013 11996013 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:11996013C>T uc003wvc.1 - 0 257 c.257G>A c.(256-258)gGa>gAa p.G86E LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron NM_201402 NP_958804 Q6R6M4 U17L2_HUMAN Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA. 86 G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 GCAGGTATTTCCCATATTCTG 0.567000 99 10 0 0 1 0 0 SFMBT1 51460 broad.mit.edu 37 3 52960048 52960048 + Splice_Site SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:52960048G>T uc003dgf.3 - 11 1754 c.1131_splice c.e11+1 p.P377_splice SFMBT1_uc010hmr.3_Splice_Site_p.P324_splice|SFMBT1_uc003dgg.3_Splice_Site_p.P377_splice|SFMBT1_uc003dgh.3_Splice_Site_p.P377_splice NM_001005159 NP_057413 Q9UHJ3 SMBT1_HUMAN Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA. 377 regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) GGTCCTCACCGGAGGGAAGCA 0.557000 115 7 3.09899e-07 3.13784e-07 1 1 0 ZNF556 80032 broad.mit.edu 37 19 2878141 2878141 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:2878141G>A uc002lwp.1 + 3 1272 c.1185G>A c.(1183-1185)gaG>gaA p.E395E ZNF556_uc002lwq.3_Silent_p.E394E NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN Homo sapiens zinc finger protein 556 (ZNF556), mRNA. 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G394G(1) endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACACTGGGGAGAAACCTGTAA 0.433000 85 7 0 0 1 0 0 SLC27A5 10998 broad.mit.edu 37 19 59023011 59023011 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:59023011G>A uc002qtc.2 - 0 422 c.312C>T c.(310-312)atC>atT p.I104I NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA. 104 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) AGCATCCCCTGATCTTCAGGC 0.647000 7 3 0 0 1 0 0 YES1 7525 broad.mit.edu 37 18 756658 756658 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:756658A>G uc002kky.3 - 1 391 c.170T>C c.(169-171)cTt>cCt p.L57P YES1_uc002kkz.3_Missense_Mutation_p.L57P NM_005433 NP_005424 P07947 YES_HUMAN Homo sapiens v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 (YES1), mRNA. 57 T cell costimulation|blood coagulation|leukocyte migration|regulation of vascular permeability cytosol|plasma membrane ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Dasatinib(DB01254) TGTCATGGAAAGACTGCTGAA 0.473000 116 18 0 0 1 0 0 ZNF578 147660 broad.mit.edu 37 19 53014622 53014622 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:53014622C>T uc002pzp.4 + 5 1232 c.988C>T c.(988-990)Ctt>Ttt p.L330F NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN Homo sapiens zinc finger protein 578 (ZNF578), mRNA. 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) CAAGTCATCCCTTACATGCCA 0.428000 57 11 0 0 1 0 0 PLA2G2A 5320 broad.mit.edu 37 1 20304874 20304874 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:20304874G>A uc001bcu.3 - 3 403 c.185_splice c.e3+1 p.R62_splice PLA2G2A_uc001bcv.3_Splice_Site_p.R62_splice|PLA2G2A_uc010oda.2_Splice_Site_p.R62_splice|PLA2G2A_uc010odb.2_Splice_Site_p.R62_splice NM_001161729 NP_001155201 P14555 PA2GA_HUMAN Homo sapiens phospholipase A2, group IIA (platelets, synovial fluid) (PLA2G2A), transcript variant 4, mRNA. 62 defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation endoplasmic reticulum|extracellular space|membrane calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding central_nervous_system(1)|lung(6)|prostate(1)|stomach(1) 9 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TGGCCTCACCGATCCGTTGCA 0.607000 32 9 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047703 42047703 + Silent SNP G A A rs138905658 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:42047703G>A uc001cgz.4 - 3 3979 c.2766C>T c.(2764-2766)ttC>ttT p.F922F HIVEP3_uc001cha.4_Silent_p.F922F|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 922 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CAGAGGACTCGAAGCTGGACT 0.592000 145 26 0 0 1 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79954661 79954661 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:79954661C>T uc002kcy.3 + 6 969 c.872C>T c.(871-873)cCc>cTc p.P291L ASPSCR1_uc002kcx.3_Missense_Mutation_p.P291L|ASPSCR1_uc021ufj.1_Missense_Mutation_p.P214L|ASPSCR1_uc002kda.3_Missense_Mutation_p.P214L|ASPSCR1_uc002kdb.1_Missense_Mutation_p.P214L NM_001251888 NP_001238817 Q9BZE9 ASPC1_HUMAN Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA. 291 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GGCCAGGATCCCCagcaggag 0.642000 T TFE3 alveolar soft part sarcoma 95 18 0 0 1 0 0 C20orf43 51507 broad.mit.edu 37 20 55093181 55093181 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:55093181C>T uc010zzf.1 + 9 978 c.871C>T c.(871-873)Ccg>Tcg p.P291S C20orf43_uc002xxt.2_Missense_Mutation_p.P261S|C20orf43_uc002xxu.2_Missense_Mutation_p.P260S|GCNT7_uc010zzg.1_Intron NM_016407 NP_057491 Q9BY42 CT043_HUMAN Homo sapiens chromosome 20 open reading frame 43 (C20orf43), mRNA. 261 breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 10 Colorectal(105;0.202) TGGGAAGCCTCCGTGTGGAGC 0.498000 60 9 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48258241 48258241 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:48258241G>A uc002eff.1 - 3 845 c.495C>T c.(493-495)ttC>ttT p.F165F ABCC11_uc002efg.1_Silent_p.F165F|ABCC11_uc002efh.1_Silent_p.F165F|ABCC11_uc010vgl.1_Silent_p.F165F NM_033151 NP_149163 Q96J66 ABCCB_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA. 165 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GAAGTGCATCGAAAATCAACC 0.512000 39 6 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 266730 266730 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:266730G>A uc001qhw.2 + 6 2313 c.2313G>A c.(2311-2313)caG>caA p.Q771Q IQSEC3_uc001qhu.1_Silent_p.Q468Q NM_001170738 NP_001164209 Q9UPP2 IQEC3_HUMAN Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA. 771 SEC7. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) AAGTGGTTCAGCAGTTCCACA 0.617000 83 12 0 0 1 0 0 CTPS2 56474 broad.mit.edu 37 X 16688711 16688711 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:16688711G>A uc004cxk.3 - 10 1925 c.1181C>T c.(1180-1182)cCt>cTt p.P394L CTPS2_uc004cxl.3_Missense_Mutation_p.P394L|CTPS2_uc004cxm.3_Missense_Mutation_p.P394L NM_001144002 NP_787055 Q9NRF8 PYRG2_HUMAN Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA. 394 Glutamine amidotransferase type-1. glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Hepatocellular(33;0.0997) ACCCAGAAAAGGAATCTTCTT 0.398000 67 22 0 0 1 0 0 KLK3 354 broad.mit.edu 37 19 51361760 51361760 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:51361760C>T uc021uyi.1 + 3 580 c.539C>T c.(538-540)tCc>tTc p.S180F KLK3_uc002pts.1_Missense_Mutation_p.S180F|KLK3_uc002ptr.1_Missense_Mutation_p.S137F|KLK3_uc010eof.1_Non-coding_Transcript NM_001648 NP_001639 P07288 KLK3_HUMAN Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA. 180 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) CATGTTATTTCCAATGACGTG 0.547000 142 6 0 0 1 0 0 PRIC285 85441 broad.mit.edu 37 20 62200346 62200346 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:62200346G>A uc002yfm.2 - 5 1987 c.1095C>T c.(1093-1095)acC>acT p.T365T PRIC285_uc002yfl.1_5'Flank NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA. 365 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2) 47 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) GGCCCCGCAGGGTCAGCCTGG 0.692000 44 5 0 0 1 0 0 KRT36 8689 broad.mit.edu 37 17 39645853 39645853 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39645853G>A uc002hwt.3 - 0 264 c.264C>T c.(262-264)tcC>tcT p.S88S NM_003771 NP_003762 O76013 KRT36_HUMAN Homo sapiens keratin 36 (KRT36), mRNA. 88 Head. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) TGCCGTTGAAGGAGCCCTCGC 0.632000 70 29 0 0 1 0 0 DKK2 27123 broad.mit.edu 37 4 107956591 107956591 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:107956591C>T uc003hyi.3 - 0 863 c.158G>A c.(157-159)cGa>cAa p.R53Q DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.R53Q NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA. 53 Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GCCCGCAGATCGATTGGCGGC 0.577000 63 15 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38119797 38119797 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:38119797C>T uc003gtb.3 + 16 3304 c.2946C>T c.(2944-2946)ttC>ttT p.F982F TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Silent_p.F769F|TBC1D1_uc021xnh.1_Silent_p.F79F|TBC1D1_uc021xni.1_Silent_p.F79F|TBC1D1_uc003gtd.3_5'Flank NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA. 982 Rab-GAP TBC. nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CGCTGGGATTCGTAGCCAGAG 0.522000 68 10 0 0 1 0 0 MC3R 4159 broad.mit.edu 37 20 54824439 54824439 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:54824439C>T uc002xxb.2 + 0 652 c.540C>T c.(538-540)atC>atT p.I180I NM_019888 NP_063941 P41968 MC3R_HUMAN Homo sapiens melanocortin 3 receptor (MC3R), mRNA. 217 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) TGGTGTTCATCGTCTACTCGG 0.557000 62 16 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 266293 266293 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:266293G>A uc001qhw.2 + 5 2256 c.2256G>A c.(2254-2256)gaG>gaA p.E752E IQSEC3_uc001qhu.1_Silent_p.E449E NM_001170738 NP_001164209 Q9UPP2 IQEC3_HUMAN Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA. 752 SEC7. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) AGAAGGTGGAGCGGCTCATTG 0.652000 8 3 0 0 1 0 0 ADAMTSL2 9719 broad.mit.edu 37 9 136403500 136403500 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:136403500G>A uc011mdl.2 + 3 820 c.263G>A c.(262-264)aGg>aAg p.R88K ADAMTSL2_uc004cei.3_Missense_Mutation_p.R88K NM_001145320 NP_055509 Q86TH1 ATL2_HUMAN Homo sapiens ADAMTS-like 2 (ADAMTSL2), transcript variant 2, mRNA. 88 TSP type-1 1. negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) CCCGGGAACAGGACCTGCACG 0.667000 100 18 0 0 1 0 0 ACO2 50 broad.mit.edu 37 22 41895768 41895768 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:41895768C>T uc003bac.3 + 1 97 c.75C>T c.(73-75)gtC>gtT p.V25V NM_001098 NP_001089 Q99798 ACON_HUMAN Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear gene encoding mitochondrial protein, mRNA. 25 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 TGGCCTCAGTCCTGTGCCAAC 0.527000 247 25 0 0 1 0 0 AMY2B 280 broad.mit.edu 37 1 104116342 104116342 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:104116342C>T uc010ouo.2 + 15 2230 c.526C>T c.(526-528)Cgt>Tgt p.R176C AMY2B_uc001duq.3_Missense_Mutation_p.R176C|AMY2B_uc001dur.3_Missense_Mutation_p.R176C|AMY2B_uc001dus.1_5'Flank NM_020978 NP_066188 P19961 AMY2B_HUMAN Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA. 176 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) CAGAGATTGTCGTCTGGTTGG 0.363000 128 5 0 0 1 0 0 GNMT 27232 broad.mit.edu 37 6 42931281 42931281 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:42931281G>A uc003otd.3 + 5 731 c.725G>A c.(724-726)cGg>cAg p.R242Q BC040637_uc003ote.1_5'Flank NM_018960 NP_061833 Q14749 GNMT_HUMAN Homo sapiens glycine N-methyltransferase (GNMT), mRNA. 242 S-adenosylmethionine metabolic process|protein homotetramerization|protein modification process folic acid binding|glycine N-methyltransferase activity|glycine binding kidney(2)|large_intestine(1)|lung(1) 4 Colorectal(47;0.196) all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461) Glycine(DB00145)|S-Adenosylmethionine(DB00118) AGTAAGTTCCGGCTCTCCTAC 0.592000 60 11 0 0 1 0 0 PIP5K1A 8394 broad.mit.edu 37 1 151205165 151205165 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:151205165C>T uc001exj.3 + 6 1077 c.625C>T c.(625-627)Cca>Tca p.P209S PIP5K1A_uc021oyo.1_Missense_Mutation_p.P197S|PIP5K1A_uc001exi.3_Missense_Mutation_p.P196S|PIP5K1A_uc010pcu.2_Missense_Mutation_p.P197S|PIP5K1A_uc001exk.3_Missense_Mutation_p.P196S|PIP5K1A_uc010pcv.2_5'Flank NM_001135638 NP_001129110 Q99755 PI51A_HUMAN Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A), transcript variant 1, mRNA. 209 PIPK. phospholipid biosynthetic process|signal transduction Golgi stack|endomembrane system|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding p.P196A(1) breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1) 5 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) GAAGCTGCTTCCAGGATACTA 0.498000 63 4 0 0 1 0 0 ZNF266 10781 broad.mit.edu 37 19 9524000 9524000 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9524000G>A uc010dwq.3 - 8 2809 c.1601C>T c.(1600-1602)tCc>tTc p.S534F ZNF266_uc002mll.3_Missense_Mutation_p.S534F|ZNF266_uc002mlm.3_Missense_Mutation_p.S534F|ZNF266_uc002mln.3_Missense_Mutation_p.S534F|ZNF266_uc002mlo.3_Missense_Mutation_p.S534F NM_198058 NP_932175 Q14584 ZN266_HUMAN Homo sapiens zinc finger protein 266 (ZNF266), mRNA. 534 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1) 28 ATTTCGAAAGGAACTGGAAGA 0.433000 53 7 0 0 1 0 0 ZNF473 25888 broad.mit.edu 37 19 50548821 50548821 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:50548821C>T uc002prn.3 + 4 1358 c.1121C>T c.(1120-1122)aCc>aTc p.T374I ZNF473_uc002prm.3_Missense_Mutation_p.T374I|ZNF473_uc010ybo.2_Missense_Mutation_p.T362I NM_001006656 NP_056243 Q8WTR7 ZN473_HUMAN Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA. 374 Interaction with SLBP/pre-mRNA complex. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) GCAAAAACTACCTCTGAGTGT 0.473000 64 13 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7584130 7584130 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:7584130G>A uc003mxp.1 + 23 6914 c.6635G>A c.(6634-6636)gGa>gAa p.G2212E DSP_uc003mxq.1_Missense_Mutation_p.G1613E|DSP_uc021yle.1_Missense_Mutation_p.G1769E NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2212 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TCCTTCCAAGGAATCAGACAA 0.463000 66 10 0 0 1 0 0 SLC22A18 5002 broad.mit.edu 37 11 2940591 2940591 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:2940591C>T uc001lwx.3 + 7 1036 c.818C>T c.(817-819)gCc>gTc p.A273V SLC22A18_uc001lwy.3_Missense_Mutation_p.A273V NM_183233 NP_899056 Q96BI1 S22AI_HUMAN Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 2, mRNA. 273 excretion|organic cation transport apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192) CAGCTGGAGGCCGCCCAAGCT 0.647000 274 44 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53668863 53668863 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:53668863C>T uc010eqm.1 - 3 980 c.880G>A c.(880-882)Gaa>Aaa p.E294K NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN Homo sapiens zinc finger protein 665 (ZNF665), mRNA. 229 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S294S(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TTGCCACATTCCTTACATTTG 0.408000 152 8 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810752 123810752 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:123810752C>T uc001pzk.1 + 0 429 c.429C>T c.(427-429)ctC>ctT p.L143L NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA. 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TCTGTGCACTCCTTATGGCAG 0.522000 45 4 0 0 1 0 0 ASPH 444 broad.mit.edu 37 8 62465666 62465666 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:62465666G>A uc003xuj.3 - 19 1819 c.1550C>T c.(1549-1551)tCc>tTc p.S517F ASPH_uc011leg.2_Missense_Mutation_p.S488F NM_004318 NP_004309 Q12797 ASPH_HUMAN Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA. 517 muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) AGGATCTCCGGATTCTATTCC 0.393000 64 13 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50876645 50876645 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:50876645C>T uc003blb.2 + 18 2304 c.1882C>T c.(1882-1884)Cag>Tag p.Q628* PPP6R2_uc003blc.3_Nonsense_Mutation_p.Q628*|PPP6R2_uc003bky.2_Nonsense_Mutation_p.Q601*|PPP6R2_uc003bla.2_Nonsense_Mutation_p.Q602*|PPP6R2_uc003bkz.2_Nonsense_Mutation_p.Q601*|PPP6R2_uc003bld.2_Nonsense_Mutation_p.Q160* NM_001242898 NP_001229827 O75170 PP6R2_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA. 628 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 TGACCGCATCCAGCCCTTTGA 0.622000 139 27 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62288269 62288269 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:62288269G>A uc001ntl.3 - 4 13920 c.13620C>T c.(13618-13620)tcC>tcT p.S4540S AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 4540 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GTTTAGGAACGGAAATGTCCA 0.413000 47 4 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8654160 8654160 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:8654160G>A uc002mkj.1 - 17 2398 c.2124C>T c.(2122-2124)atC>atT p.I708I ADAMTS10_uc002mki.1_Silent_p.I195I|ADAMTS10_uc002mkk.1_Silent_p.I340I NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 708 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 AGACGCCCTCGATGGTCTCGC 0.667000 75 6 0 0 1 0 0 GDF7 151449 broad.mit.edu 37 2 20870883 20870883 + Missense_Mutation SNP C T T rs140019810 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:20870883C>T uc002rdz.1 + 1 1627 c.1051C>T c.(1051-1053)Cgc>Tgc p.R351C NM_182828 NP_878248 Q7Z4P5 GDF7_HUMAN Homo sapiens growth differentiation factor 7 (GDF7), mRNA. 351 BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGCTGCAGCCGCAAGCCGTT 0.731000 16 7 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32215055 32215055 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:32215055C>T uc011alu.2 + 21 1916 c.1714C>T c.(1714-1716)Cca>Tca p.P572S DEPDC5_uc011als.2_Missense_Mutation_p.P572S|DEPDC5_uc003als.3_Missense_Mutation_p.P572S|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.P572S|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.P12S|DEPDC5_uc011alt.2_Missense_Mutation_p.P544S NM_001242896 NP_001229825 O75140 DEPD5_HUMAN Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA. 572 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CTCCAGTGCACCAGGGAGGTT 0.532000 66 4 0 0 1 0 0 BRD2 6046 broad.mit.edu 37 6 32944418 32944418 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:32944418C>T uc010juh.3 + 5 2209 c.905C>T c.(904-906)cCt>cTt p.P302L BRD2_uc003ocn.4_Missense_Mutation_p.P302L|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_Missense_Mutation_p.P182L|BRD2_uc003ocq.4_Missense_Mutation_p.P302L|BRD2_uc021ywf.1_Missense_Mutation_p.P255L NM_001199455 NP_001186384 P25440 BRD2_HUMAN Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA. 302 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 CCAGCTAGCCCTCCTGGGAGT 0.547000 58 14 0 0 1 0 0 ABCG2 9429 broad.mit.edu 37 4 89022423 89022423 + Silent SNP A C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:89022423A>C uc003hrg.3 - 10 1819 c.1326T>G c.(1324-1326)gtT>gtG p.V442V ABCG2_uc003hrh.3_Silent_p.V442V|ABCG2_uc003hrf.3_Silent_p.V310V NM_004827 NP_004818 Q9UNQ0 ABCG2_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA. 442 ABC transmembrane type-2. cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) CCACGGCTGAAACACTGCTGA 0.507000 30 3 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6897307 6897307 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:6897307C>T uc002mfw.3 + 3 424 c.386C>T c.(385-387)tCc>tTc p.S129F EMR1_uc010dvc.3_Missense_Mutation_p.S129F|EMR1_uc010dvb.3_Intron|EMR1_uc010xji.2_Intron|EMR1_uc010xjj.2_Missense_Mutation_p.S129F NM_001974 NP_001965 Q14246 EMR1_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA. 129 EGF-like 2; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) GGCAATTTCTCCTGTACTGGT 0.493000 28 5 0 0 1 0 0 FHL3 2275 broad.mit.edu 37 1 38465025 38465025 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:38465025G>A uc001cck.3 - 1 239 c.60C>T c.(58-60)atC>atT p.I20I FHL3_uc001ccm.3_Intron|FHL3_uc009vvl.2_Silent_p.I20I NM_004468 NP_004459 Q13643 FHL3_HUMAN Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA. 20 muscle organ development zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TGTCTGTCTGGATGTACTTGC 0.537000 49 11 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113940670 113940670 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:113940670G>A uc002tjc.3 + 1 820 c.637G>A c.(637-639)Gaa>Aaa p.E213K PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.E212K|PSD4_uc002tjf.3_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA. 213 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity p.G212V(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGACTCAGGGGAAGACAGCAG 0.632000 46 6 0 0 1 0 0 ODZ2 57451 broad.mit.edu 37 5 167645246 167645246 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:167645246G>A uc010jjd.3 + 22 4323 c.4323G>A c.(4321-4323)gcG>gcA p.A1441A ODZ2_uc003lzr.4_Silent_p.A1211A|ODZ2_uc003lzt.4_Silent_p.A814A|ODZ2_uc010jje.3_Silent_p.A705A NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GCATCATTGCGGGACGCCCCA 0.502000 118 15 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220309382 220309382 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:220309382G>A uc010fwg.3 + 1 396 c.396G>A c.(394-396)gaG>gaA p.E132E SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_5'UTR|SPEG_uc002vln.1_5'UTR NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 132 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CAGACTCAGAGACGGCTGAGG 0.632000 44 7 0 0 1 0 0 BFSP2 8419 broad.mit.edu 37 3 133119369 133119369 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:133119369G>A uc003epn.1 + 0 580 c.442G>A c.(442-444)Gga>Aga p.G148R NM_003571 NP_003562 Q13515 BFSP2_HUMAN Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA. 148 Rod. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 CACACGCTCGGGAAACTGGGG 0.612000 15 3 0 0 1 0 0 AMPD1 270 broad.mit.edu 37 1 115231335 115231335 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:115231335G>A uc001efe.2 - 2 209 c.161C>T c.(160-162)gCt>gTt p.A54V AMPD1_uc001eff.2_Missense_Mutation_p.A50V NM_000036 NP_000027 P23109 AMPD1_HUMAN Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA. 21 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) CACTTTTTCAGCAAAGTTGCG 0.408000 90 8 0 0 1 0 0 CTCFL 140690 broad.mit.edu 37 20 56094368 56094368 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:56094368G>A uc010giw.1 - 3 931 c.820C>T c.(820-822)Cgt>Tgt p.R274C CTCFL_uc010gix.1_Missense_Mutation_p.R274C|CTCFL_uc002xym.2_Missense_Mutation_p.R274C|CTCFL_uc010gjb.1_Missense_Mutation_p.R274C|CTCFL_uc010gja.1_Missense_Mutation_p.R274C|CTCFL_uc010gjc.1_Missense_Mutation_p.R274C|CTCFL_uc010gjd.1_Missense_Mutation_p.R274C|CTCFL_uc010gje.3_Missense_Mutation_p.R274C|CTCFL_uc010gjg.3_Missense_Mutation_p.R6C|CTCFL_uc010gjf.3_Missense_Mutation_p.R69C|CTCFL_uc010gjh.2_Missense_Mutation_p.R274C|CTCFL_uc010gji.2_Missense_Mutation_p.R69C|CTCFL_uc010gjj.2_Missense_Mutation_p.R274C|CTCFL_uc021wfe.1_Missense_Mutation_p.R274C|CTCFL_uc021wff.1_Non-coding_Transcript|CTCFL_uc021wfg.1_Missense_Mutation_p.R6C|CTCFL_uc010gjk.1_Missense_Mutation_p.R274C|CTCFL_uc010gjl.1_Missense_Mutation_p.R274C NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA. 274 DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) TTCATATGACGATTAAAACTT 0.443000 70 12 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39703566 39703566 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:39703566G>A uc001rly.3 - 32 4519 c.4099C>T c.(4099-4101)Cgt>Tgt p.R1367C KIF21A_uc001rlv.3_Missense_Mutation_p.R312C|KIF21A_uc001rlw.3_Missense_Mutation_p.R637C|KIF21A_uc001rlx.3_Missense_Mutation_p.R1354C|KIF21A_uc001rlz.3_Missense_Mutation_p.R1314C|KIF21A_uc010skl.2_Missense_Mutation_p.R1330C|KIF21A_uc001rlt.3_5'UTR|KIF21A_uc001rlu.3_5'UTR NM_001173464 NP_001166935 Q7Z4S6 KI21A_HUMAN Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA. 1367 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TTACAAGTACGATCTAAAACA 0.323000 10 3 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120009409 120009409 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:120009409C>T uc011muc.2 - 0 371 c.116G>A c.(115-117)gGc>gAc p.G39D NM_001145718 NP_001139190 P0C2W7 CT47B_HUMAN Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA. 39 p.S38C(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 GCTGTCGGGGCCGGAGTCGCC 0.736000 63 8 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32053854 32053854 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:32053854G>A uc003nzl.2 - 6 3023 c.2821C>T c.(2821-2823)Cct>Tct p.P941S NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1030 Fibronectin type-III 2. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCTGAGGGAGGAGGCTCATCG 0.622000 183 15 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13885242 13885242 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:13885242C>T uc003jfd.2 - 18 2881 c.2839G>A c.(2839-2841)Gaa>Aaa p.E947K NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 947 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATCTCAGTTTCTTTCTTTTTC 0.428000 Kartagener syndrome 41 4 0 0 1 0 0 GPR37L1 9283 broad.mit.edu 37 1 202097409 202097409 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:202097409C>A uc001gxj.3 + 1 1234 c.1171C>A c.(1171-1173)Cgc>Agc p.R391S NM_004767 NP_004758 O60883 ETBR2_HUMAN Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA. 391 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 CGAGCTGACCCGCCAGACCCT 0.632000 85 4 1 1 1 1 0 CLSTN2 64084 broad.mit.edu 37 3 140122567 140122567 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:140122567G>A uc003etn.3 + 2 519 c.329G>A c.(328-330)aGc>aAc p.S110N CLSTN2_uc003etm.2_Missense_Mutation_p.S110N NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN Homo sapiens calsyntenin 2 (CLSTN2), mRNA. 110 Cadherin 1. homophilic cell adhesion Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CGTGCCAAGAGCCCCATTGAC 0.562000 HNSCC(16;0.037) 99 8 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75980755 75980755 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:75980755G>A uc002baw.3 - 2 2744 c.2651C>T c.(2650-2652)tCc>tTc p.S884F NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA. 884 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 ATAGAGTGGGGAGAAATATGG 0.597000 37 5 0 0 1 0 0 ZNF398 57541 broad.mit.edu 37 7 148876611 148876611 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:148876611C>T uc011kum.2 + 6 1803 c.1662C>T c.(1660-1662)atC>atT p.I554I ZNF398_uc011kul.2_Silent_p.I378I|ZNF398_uc003wfl.3_Silent_p.I549I NM_020781 NP_065832 Q8TD17 ZN398_HUMAN Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA. 549 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L554L(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) AGAGCTTCATCCGCAAGCACC 0.602000 59 6 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 7949229 7949229 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:7949229C>T uc002knn.4 + 5 1217 c.714C>T c.(712-714)tcC>tcT p.S238S PTPRM_uc010dkv.3_Silent_p.S238S|PTPRM_uc010wzl.2_Silent_p.S25S NM_002845 NP_002836 P28827 PTPRM_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA. 238 Ig-like C2-type. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) TGACCAGCTCCCGACGCTTCA 0.468000 43 4 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103090277 103090277 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:103090277C>T uc002tbz.4 + 0 516 c.59C>T c.(58-60)gCt>gTt p.A20V NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 20 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CTGCTAGTGGCTCTTGAGTGT 0.483000 59 22 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24922515 24922515 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:24922515C>T uc001ywo.3 + 0 1975 c.1501C>T c.(1501-1503)Cct>Tct p.P501S NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 501 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CCCAACACCTCCTAGCTCCAC 0.517000 172 11 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121240877 121240877 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:121240877G>A uc003eee.4 - 7 1357 c.1228C>T c.(1228-1230)Cca>Tca p.P410S NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 410 Helicase C-terminal. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) ACTCCCCATGGTACAGTTTTC 0.363000 DNA polymerases (catalytic subunits) 66 5 0 0 1 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50421649 50421649 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:50421649G>A uc003daq.3 - 5 668 c.630C>T c.(628-630)atC>atT p.I210I CACNA2D2_uc003dap.3_Silent_p.I210I NM_001174051 NP_001167522 Q9NY47 CA2D2_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA. 210 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) TGTCCGTAGGGATCTGTACAG 0.562000 207 13 0 0 1 0 0 PPIAL4G 644591 broad.mit.edu 37 1 143767510 143767510 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:143767510G>A uc001ejt.3 - 0 372 c.339C>T c.(337-339)ttC>ttT p.F113F NM_001123068 NP_001116540 A2BFH1 PAL4G_HUMAN Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA. 113 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1) 14 CAGTGCAGATGAAAAACTGGG 0.478000 169 7 0 0 1 0 0 DDX3Y 8653 broad.mit.edu 37 Y 15025720 15025720 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrY:15025720C>T uc004fsu.1 + 7 937 c.628C>T c.(628-630)Cct>Tct p.P210S DDX3Y_uc010nwv.1_Missense_Mutation_p.P210S|DDX3Y_uc011naq.1_Missense_Mutation_p.P210S|DDX3Y_uc004fsv.2_Missense_Mutation_p.P210S|DDX3Y_uc010nww.1_Missense_Mutation_p.P26S|DDX3Y_uc011nar.1_Missense_Mutation_p.P207S NM_001122665 NP_004651 O15523 DDX3Y_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked (DDX3Y), transcript variant 1, mRNA. 210 Helicase ATP-binding. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1) 5 ACATGCCATTCCTATTATTAA 0.378000 14 3 0 0 1 0 0 SEMA3F 6405 broad.mit.edu 37 3 50222211 50222211 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:50222211G>A uc003cyj.3 + 12 1618 c.1420G>A c.(1420-1422)Gcc>Acc p.A474T SEMA3F_uc003cyk.3_Missense_Mutation_p.A443T NM_004186 NP_004177 Q13275 SEM3F_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA. 474 Sema. A -> G (in dbSNP:rs1046955). axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) GGTGGATGCAGCCGACGGGCG 0.667000 19 4 0 0 1 0 0 ITGAV 3685 broad.mit.edu 37 2 187531446 187531446 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:187531446C>T uc002upq.3 + 21 2458 c.2182C>T c.(2182-2184)Cgt>Tgt p.R728C ITGAV_uc010frs.3_Missense_Mutation_p.R692C|ITGAV_uc010zfv.2_Missense_Mutation_p.R682C NM_002210 NP_002201 P06756 ITAV_HUMAN Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA. 728 ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) AGCTGGTCTTCGTTTCAGTGT 0.323000 40 7 0 0 1 0 0 OR6B1 135946 broad.mit.edu 37 7 143701744 143701744 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:143701744G>A uc003wdt.1 + 0 655 c.655G>A c.(655-657)Gga>Aga p.G219R NM_001005281 NP_001005281 O95007 OR6B1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA. 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G219R(2)|p.G219*(2) breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) CCTGTCCTACGGATGCATTCT 0.468000 79 4 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88679739 88679739 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:88679739C>T uc002bme.2 - 7 1030 c.724G>A c.(724-726)Gac>Aac p.D242N NTRK3_uc002bmh.2_Missense_Mutation_p.D242N|NTRK3_uc002bmf.2_Missense_Mutation_p.D242N|NTRK3_uc021sua.1_Missense_Mutation_p.D242N|NTRK3_uc010upl.1_Missense_Mutation_p.D144N|NTRK3_uc010bnh.1_Missense_Mutation_p.D242N|NTRK3_uc002bmg.3_Missense_Mutation_p.D242N NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA. 242 Ig-like C2-type 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) ACTATCCAGTCCACATCAGGA 0.552000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 21 4 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73752875 73752875 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:73752875G>A uc002jpg.3 + 36 5175 c.4988G>A c.(4987-4989)cGg>cAg p.R1663Q ITGB4_uc002jph.3_Missense_Mutation_p.R1593Q|ITGB4_uc002jpi.4_Missense_Mutation_p.R1593Q|ITGB4_uc002jpj.3_Missense_Mutation_p.R1646Q NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 1663 Fibronectin type-III 4. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) AGCTGGGAGCGGCCACGGAGG 0.687000 91 12 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69049583 69049583 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:69049583C>T uc010fdg.3 + 9 1731 c.1312C>T c.(1312-1314)Cgt>Tgt p.R438C ARHGAP25_uc010yql.2_Missense_Mutation_p.R398C|ARHGAP25_uc002sew.3_Missense_Mutation_p.R430C|ARHGAP25_uc002sex.3_Missense_Mutation_p.R431C NM_001007231 NP_001007232 P42331 RHG25_HUMAN Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA. 437 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 AATGCAATCTCGTAAAAGGAC 0.483000 77 12 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123271120 123271120 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:123271120C>T uc003ieh.3 + 77 13785 c.13740C>T c.(13738-13740)ttC>ttT p.F4580F KIAA1109_uc003iem.3_Silent_p.F936F NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 4580 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AGGAATTTTTCACACAACAAT 0.413000 18 4 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839781 62839781 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:62839781G>A uc002yii.3 + 6 1596 c.1232G>A c.(1231-1233)gGa>gAa p.G411E MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_Missense_Mutation_p.G43E NM_004535 NP_004526 Q01538 MYT1_HUMAN Homo sapiens myelin transcription factor 1 (MYT1), mRNA. 411 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CTGGGCCTGGGAGAGCCAGGG 0.652000 25 5 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98803137 98803137 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:98803137G>A uc001kmw.2 - 18 2239 c.1987C>T c.(1987-1989)Ctc>Ttc p.L663F SLIT1_uc009xvh.1_Missense_Mutation_p.L673F NM_003061 NP_003052 O75093 SLIT1_HUMAN Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA. 663 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space Roundabout binding|calcium ion binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) AGTGTGGAGAGGGACTGGAGG 0.647000 137 12 0 0 1 0 0 STYK1 55359 broad.mit.edu 37 12 10774545 10774545 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:10774545G>A uc001qys.2 - 9 1515 c.994C>T c.(994-996)Cct>Tct p.P332S NM_018423 NP_060893 Q6J9G0 STYK1_HUMAN Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA. 332 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 ATGCTGGTAGGAGGGACTTCA 0.418000 HNSCC(73;0.22) 84 9 0 0 1 0 0 GTPBP1 9567 broad.mit.edu 37 22 39112741 39112741 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:39112741C>T uc003awg.3 + 3 724 c.570C>T c.(568-570)ggC>ggT p.G190G NM_004286 NP_004277 O00178 GTPB1_HUMAN Homo sapiens GTP binding protein 1 (GTPBP1), mRNA. 190 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity p.R189Q(1) endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) ATGGCCGAGGCTTTGCCCGCC 0.557000 37 14 0 0 1 0 0 YTHDF1 54915 broad.mit.edu 37 20 61845283 61845283 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:61845283G>A uc002yeh.3 - 2 359 c.65C>T c.(64-66)tCg>tTg p.S22L NM_017798 NP_060268 Q9BYJ9 YTHD1_HUMAN Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA. 22 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 CTGATGTAACGAACCATTTTG 0.323000 48 5 0 0 1 0 0 RABEPK 10244 broad.mit.edu 37 9 127982863 127982863 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:127982863C>T uc004bpi.3 + 5 579 c.410C>T c.(409-411)tCc>tTc p.S137F RABEPK_uc004bph.2_3'UTR|RABEPK_uc004bpj.3_Missense_Mutation_p.S86F|RABEPK_uc004bpk.3_Missense_Mutation_p.S137F NM_001174152 NP_005824 Q7Z6M1 RABEK_HUMAN Homo sapiens Rab9 effector protein with kelch motifs (RABEPK), transcript variant 2, mRNA. 137 receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 CCCCCACCATCCCCAAGAACA 0.572000 68 4 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79324609 79324609 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:79324609G>A uc002beq.3 - 6 1383 c.1008C>T c.(1006-1008)ttC>ttT p.F336F RASGRF1_uc002bep.3_Silent_p.F336F|RASGRF1_uc010blm.1_Silent_p.F258F|RASGRF1_uc002ber.4_Silent_p.F336F NM_002891 NP_002882 Q13972 RGRF1_HUMAN Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA. 336 DH. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GGTTGCGGACGAACTCTTGGT 0.587000 47 5 0 0 1 0 0 FAM180A 389558 broad.mit.edu 37 7 135418855 135418855 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:135418855C>T uc003vtd.3 - 2 656 c.390G>A c.(388-390)ctG>ctA p.L130L FAM180A_uc010lmt.3_Non-coding_Transcript|FAM180A_uc010lmu.2_Silent_p.L130L NM_205855 NP_995327 Q6UWF9 F180A_HUMAN Homo sapiens family with sequence similarity 180, member A (FAM180A), mRNA. 130 extracellular region endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1) 14 CTGTGTAGGCCAGGGTCAGCA 0.612000 52 7 0 0 1 0 0 SRY 6736 broad.mit.edu 37 Y 2655388 2655388 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrY:2655388C>T uc004fqg.1 - 0 405 c.257G>A c.(256-258)cGa>cAa p.R86Q NM_003140 NP_003131 Q05066 SRY_HUMAN Homo sapiens sex determining region Y (SRY), mRNA. 86 Sufficient for interaction with KPNB1. cell differentiation|male sex determination|positive regulation of transcription, DNA-dependent|sex differentiation cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding lung(1)|prostate(1) 2 CTCTGAGTTTCGCATTCTGGG 0.502000 Swyer syndrome 9 5 0 0 1 0 0 ARNT 405 broad.mit.edu 37 1 150788865 150788865 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:150788865G>A uc001evr.2 - 18 2021 c.1820C>T c.(1819-1821)cCt>cTt p.P607L ARNT_uc010pck.2_Missense_Mutation_p.P96L|ARNT_uc001evs.2_Missense_Mutation_p.P592L|ARNT_uc009wmd.2_Missense_Mutation_p.P592L|ARNT_uc009wmb.2_Missense_Mutation_p.P593L|ARNT_uc009wmc.2_Missense_Mutation_p.P605L NM_001668 NP_001659 P27540 ARNT_HUMAN Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA. 607 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity p.P607S(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) GGTTACAGGAGGGGCTAGGCC 0.478000 T ETV6 AML 36 8 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043426 20043426 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:20043426G>A uc002dgu.1 - 1 855 c.693C>T c.(691-693)ttC>ttT p.F231F GPR139_uc010vaw.1_Silent_p.F138F NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA. 231 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 AGGTAATGGTGAACAAGATGG 0.517000 36 7 0 0 1 0 0 SLC11A1 6556 broad.mit.edu 37 2 219248997 219248997 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:219248997T>C uc002vhv.3 + 2 522 c.182T>C c.(181-183)tTc>tCc p.F61S SLC11A1_uc010zkb.1_Missense_Mutation_p.F61S|SLC11A1_uc010fvp.1_Missense_Mutation_p.F61S|SLC11A1_uc010fvq.1_5'UTR|SLC11A1_uc010zkc.1_5'UTR|SLC11A1_uc002vhu.1_Intron|SLC11A1_uc002vhw.3_5'UTR|SLC11A1_uc010fvr.3_5'Flank NM_000578 NP_000569 P49279 NRAM1_HUMAN Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA. 61 Pro/Ser-rich. L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity p.?(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTATGGGCCTTCACGGGGCCT 0.602000 135 6 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37356579 37356579 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:37356579G>A uc001caz.2 - 1 369 c.234C>T c.(232-234)acC>acT p.T78T GRIK3_uc001cba.1_Silent_p.T78T NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 78 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CATAGGTCAAGGTTGTGTTGG 0.547000 53 7 0 0 1 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71281976 71281977 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:71281976_71281977GG>AA uc002jjn.3 - 1 810_811 c.663_664CC>TT c.(661-666)gtcctc>gtTTtc p.L222F CDC42EP4_uc002jjo.3_Missense_Mutation_p.L222F|CDC42EP4_uc002jjp.1_Missense_Mutation_p.L152F|CDC42EP4_uc021ucn.1_Missense_Mutation_p.L222F NM_012121 NP_036253 Q9H3Q1 BORG4_HUMAN Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA. 222 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) ATGATGCTGAGGACGTCACCCA 0.644000 92 4 0 0 1 0 0 GSTM3 2947 broad.mit.edu 37 1 110282108 110282108 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:110282108G>A uc001dyo.2 - 3 442 c.132C>T c.(130-132)gaC>gaT p.D44D GSTM3_uc001dyp.2_Silent_p.D41D|GSTM3_uc010ovv.2_Silent_p.D44D NM_000849 NP_000840 P21266 GSTM3_HUMAN Homo sapiens glutathione S-transferase mu 3 (brain) (GSTM3), transcript variant 1, mRNA. 44 GST N-terminal. establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus cytoplasm glutathione transferase activity|identical protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1) 9 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) TTCGATCATAGTCAGGAGCTG 0.463000 256 56 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32811724 32811724 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:32811724C>T uc001utx.3 + 43 6515 c.6019C>T c.(6019-6021)Cag>Tag p.Q2007* FRY_uc010tdw.2_Non-coding_Transcript NM_023037 NP_075463 Q5TBA9 FRY_HUMAN Homo sapiens furry homolog (Drosophila) (FRY), mRNA. 2007 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GGACAGAATTCAGGCTTGTAC 0.537000 23 4 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9060710 9060710 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9060710C>T uc002mkp.3 - 2 26940 c.26736G>A c.(26734-26736)atG>atA p.M8912I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8914 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGTGATATTCATACTGGGAG 0.498000 41 9 0 0 1 0 0 LILRA5 353514 broad.mit.edu 37 19 54818764 54818764 + Silent SNP G A A rs145397246 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:54818764G>A uc002qfe.3 - 6 954 c.834C>T c.(832-834)gtC>gtT p.V278V LILRA5_uc002qff.3_Silent_p.V266V NM_021250 NP_067073 A6NI73 LIRA5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA. 278 innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GAATCCCAAGGACCACCAGGA 0.532000 61 9 0 0 1 0 0 AWAT2 158835 broad.mit.edu 37 X 69263029 69263029 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:69263029C>T uc004dxt.1 - 4 543 c.537G>A c.(535-537)atG>atA p.M179I NM_001002254 NP_001002254 Q6E213 AWAT2_HUMAN Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA. 179 endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity endometrium(3)|large_intestine(3)|lung(2)|ovary(1) 9 CCACAATGACCATGTTGCCTG 0.537000 8 6 0 0 1 0 0 NT5C3 51251 broad.mit.edu 37 7 33059300 33059300 + Silent SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:33059300A>T uc003tdk.3 - 5 569 c.492T>A c.(490-492)gcT>gcA p.A164A AVL9_uc011kai.2_Intron|NT5C3_uc022abo.1_Silent_p.A113A|NT5C3_uc003tdi.3_Silent_p.A125A|NT5C3_uc003tdj.3_Silent_p.A125A NM_001002010 NP_001159590 Q9H0P0 5NT3_HUMAN Homo sapiens 5'-nucleotidase, cytosolic III (NT5C3), transcript variant 1, mRNA. 164 nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol|endoplasmic reticulum 2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding p.A164S(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(11;0.0894) CTTTTGGTAAAGCTTGCTGAA 0.313000 59 5 0 0 1 0 0 FAM59A 64762 broad.mit.edu 37 18 29848134 29848134 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:29848134G>A uc002kxl.3 - 5 2387 c.2331C>T c.(2329-2331)ttC>ttT p.F777F FAM59A_uc002kxk.2_Silent_p.F776F NM_001242409 NP_001229338 Q9H706 FA59A_HUMAN Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA. 777 endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 36 AGGAGGCAGAGAAGATGTCCT 0.552000 30 7 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47925290 47925290 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:47925290G>A uc003tny.2 - 17 3233 c.3199C>T c.(3199-3201)Ctc>Ttc p.L1067F NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 1067 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TTACCAGAGAGGTGAGGGTCA 0.552000 91 12 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98165056 98165056 + Silent SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:98165056A>T uc001drv.3 - 5 668 c.531T>A c.(529-531)ccT>ccA p.P177P DPYD_uc010oub.1_Non-coding_Transcript NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 177 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity p.L176L(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TTTCTGGGGGAGGCAGCGAAG 0.428000 36 4 0 0 1 0 0 GOLGA7B 401647 broad.mit.edu 37 10 99623813 99623813 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:99623813C>T uc001kos.3 + 2 331 c.265C>T c.(265-267)Ctc>Ttc p.L89F NM_001010917 NP_001010917 Q2TAP0 GOG7B_HUMAN Homo sapiens golgin A7 family, member B (GOLGA7B), mRNA. 89 Golgi membrane endometrium(1)|large_intestine(3)|prostate(1) 5 CTTCATCTTCCTCTGCATGGA 0.617000 32 4 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3348617 3348617 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:3348617G>A uc001akf.3 + 15 3691 c.3609G>A c.(3607-3609)gaG>gaA p.E1203E PRDM16_uc001ake.3_Silent_p.E1203E|PRDM16_uc009vlh.3_Silent_p.E903E|PRDM16_uc001akc.3_Silent_p.E1202E NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 1203 Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GAGCAGCTGAGGAAGCATTTG 0.522000 T EVI1 """MDS, AML""" 82 13 0 0 1 0 0 TREML2 79865 broad.mit.edu 37 6 41162324 41162324 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:41162324G>A uc010jxm.1 - 2 803 c.624C>T c.(622-624)tcC>tcT p.S208S NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA. 208 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) TCACTGTCTGGGACCCCATGG 0.617000 34 7 0 0 1 0 0 CXorf59 286464 broad.mit.edu 37 X 36091478 36091478 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:36091478G>A uc004ddk.1 + 3 599 c.413G>A c.(412-414)aGa>aAa p.R138K NM_173695 NP_775966 Q8N9S7 CX059_HUMAN Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA. 138 integral to membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2) 34 GAGACTATAAGAAGGTGAGAG 0.353000 16 4 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128493061 128493061 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:128493061T>C uc003vnz.4 + 36 6393 c.6184T>C c.(6184-6186)Ttc>Ctc p.F2062L FLNC_uc003voa.4_Missense_Mutation_p.F2029L NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 2062 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GGTGGCAGAGTTCATCGTGGA 0.637000 63 3 0 0 1 0 0 CYR61 3491 broad.mit.edu 37 1 86047912 86047912 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:86047912G>A uc001dle.3 + 2 803 c.579G>A c.(577-579)acG>acA p.T193T CYR61_uc021opf.1_Silent_p.T126T NM_001554 NP_001545 O00622 CYR61_HUMAN Homo sapiens cysteine-rich, angiogenic inducer, 61 (CYR61), mRNA. 193 cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of ERK1 and ERK2 cascade|regulation of cell growth|wound healing, spreading of cells extracellular region heparin binding|insulin-like growth factor binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1) 5 all cancers(265;0.0216)|Epithelial(280;0.0441) TGGAGTTGACGAGAAACAATG 0.527000 OREG0013583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 106 6 0 0 1 0 0 OR10W1 81341 broad.mit.edu 37 11 58034437 58034437 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:58034437C>T uc001nmq.1 - 0 1296 c.894G>A c.(892-894)agG>agA p.R298R NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA. 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) AAAGGCAGTTCCTGGTAAGAA 0.493000 54 5 0 0 1 0 0 MLYCD 23417 broad.mit.edu 37 16 83949024 83949024 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:83949024C>T uc002fgz.3 + 4 1432 c.1412C>T c.(1411-1413)tCc>tTc p.S471F NM_012213 NP_036345 O95822 DCMC_HUMAN Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA. 471 acyl-CoA metabolic process|fatty acid biosynthetic process mitochondrion|peroxisome malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 TACCTCGGCTCCAAGATCATC 0.582000 38 4 0 0 1 0 0 KCNG3 170850 broad.mit.edu 37 2 42671582 42671582 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:42671582G>A uc002rsn.3 - 1 1399 c.803C>T c.(802-804)tCt>tTt p.S268F KCNG3_uc002rsm.3_Missense_Mutation_p.S257F NM_133329 NP_579875 Q8TAE7 KCNG3_HUMAN Homo sapiens potassium voltage-gated channel, subfamily G, member 3 (KCNG3), transcript variant 1, mRNA. 268 endoplasmic reticulum|voltage-gated potassium channel complex protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2) 6 CATCAACACAGAGATGTAATA 0.443000 79 4 0 0 1 0 0 SMOC1 64093 broad.mit.edu 37 14 70489977 70489977 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:70489977C>T uc001xlt.2 + 10 1386 c.1104C>T c.(1102-1104)ttC>ttT p.F368F SMOC1_uc001xls.2_Silent_p.F368F NM_001034852 NP_001030024 Q9H4F8 SMOC1_HUMAN Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA. 368 EF-hand 1. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) ACTGGTATTTCAGCCAGCTGG 0.557000 77 14 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290767 141290767 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:141290767G>A uc022cfj.1 - 0 1007 c.1007C>T c.(1006-1008)gCt>gTt p.A336V MAGEC2_uc004fbu.2_Missense_Mutation_p.A336V NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA. 336 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) ATCTTTCAAAGCATCCTTGTA 0.473000 HNSCC(46;0.14) 60 12 0 0 1 0 0 CARD10 29775 broad.mit.edu 37 22 37892461 37892461 + Missense_Mutation SNP G A A rs142113268 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:37892461G>A uc003asx.1 - 12 2071 c.2054C>T c.(2053-2055)tCg>tTg p.S685L CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_Missense_Mutation_p.S3L|CARD10_uc003asw.1_Missense_Mutation_p.S399L|CARD10_uc003asy.1_Missense_Mutation_p.S685L NM_014550 NP_055365 Q9BWT7 CAR10_HUMAN Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA. 685 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) CTTACCCTTCGAGTCCATCAG 0.637000 53 5 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87966204 87966204 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:87966204G>A uc001kdl.1 - 2 538 c.437C>T c.(436-438)cCc>cTc p.P146L GRID1_uc009xsu.1_Non-coding_Transcript NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA. 146 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GAGGCGGACGGGTGGTCTCGA 0.622000 Multiple Myeloma(13;0.14) 36 5 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37985721 37985721 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:37985721C>T uc002hsu.3 - 2 144 c.82G>A c.(82-84)Gac>Aac p.D28N IKZF3_uc002htd.3_Intron|IKZF3_uc010cwd.3_Missense_Mutation_p.D28N|IKZF3_uc002hsv.3_Intron|IKZF3_uc010cwe.3_Missense_Mutation_p.D28N|IKZF3_uc010cwf.3_Missense_Mutation_p.D28N|IKZF3_uc010cwg.3_Missense_Mutation_p.D28N|IKZF3_uc002hsw.3_Missense_Mutation_p.D28N|IKZF3_uc002hsx.3_Missense_Mutation_p.D28N|IKZF3_uc002hsy.3_Missense_Mutation_p.D28N|IKZF3_uc002hsz.3_Missense_Mutation_p.D28N|IKZF3_uc002hta.3_Missense_Mutation_p.D28N|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.D28N|IKZF3_uc002htc.3_5'UTR NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA. 28 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) AAACTGTAGTCATTCAAAACC 0.368000 51 12 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43930062 43930062 + Missense_Mutation SNP C T T rs138656425 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:43930062C>T uc002xnn.2 - 3 852 c.665G>A c.(664-666)gGg>gAg p.G222E MATN4_uc002xnp.2_Intron|MATN4_uc002xno.2_Intron|MATN4_uc010zwr.1_Missense_Mutation_p.G170E|MATN4_uc002xnr.1_Missense_Mutation_p.G222E NM_003833 NP_003824 O95460 MATN4_HUMAN Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA. 263 EGF-like 1; incomplete. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) TCCATGGGTCCCTTCAGCACA 0.527000 30 3 0 0 1 0 0 FLJ31813 326332 broad.mit.edu 37 10 51808081 51808081 + RNA SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:51808081C>A uc001jiz.1 - 5 c.1772G>T Homo sapiens FAM21B pseudogene (FLJ31813), non-coding RNA. GCTGTACGCCCAAAAAGATTA 0.408000 113 15 6.72482e-11 6.82207e-11 1 1 0 PAPPA2 60676 broad.mit.edu 37 1 176762734 176762734 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:176762734G>A uc001gkz.3 + 19 6223 c.5059G>A c.(5059-5061)Gac>Aac p.D1687N PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1687 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCCCCCCAGTGACCCCGTGAT 0.473000 46 7 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590287 140590287 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140590287C>T uc003liz.3 + 0 1997 c.1808C>T c.(1807-1809)tCg>tTg p.S603L PCDHB12_uc011dak.2_Missense_Mutation_p.S266L NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 603 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCTGGCTGTCGTACCAGCTG 0.726000 173 9 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120593413 120593413 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:120593413G>A uc001txo.3 - 28 3436 c.3423C>T c.(3421-3423)atC>atT p.I1141I MIR4498_uc021res.1_5'Flank NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 1141 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCAGCTTCCGGATCTCCTCCT 0.522000 89 7 0 0 1 0 0 VWC2L 402117 broad.mit.edu 37 2 215278924 215278924 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:215278924C>T uc002vet.2 + 1 137 c.7C>T c.(7-9)Ctt>Ttt p.L3F VWC2L_uc010zjl.1_Missense_Mutation_p.L3F NM_001080500 NP_001073969 B2RUY7 VWC2L_HUMAN Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA. 3 extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1) 16 GGGGATGGCTCTTCATATTCA 0.433000 28 8 0 0 1 0 0 DFNA5 1687 broad.mit.edu 37 7 24758684 24758684 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:24758684G>A uc010kus.1 - 3 646 c.558C>T c.(556-558)atC>atT p.I186I DFNA5_uc003sxa.1_Silent_p.I186I|DFNA5_uc010kut.1_Silent_p.I22I NM_001127453 NP_001120926 O60443 DFNA5_HUMAN Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA. 186 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 TCTTGGTCTGGATGCCCACGA 0.582000 98 33 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167082994 167082994 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:167082994C>T uc001geb.1 + 1 174 c.158C>T c.(157-159)cCc>cTc p.P53L NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA. 53 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 TTCATGGAACCCATTCACCTC 0.458000 139 22 0 0 1 0 0 TCEA1 6917 broad.mit.edu 37 8 54900748 54900748 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:54900748G>A uc003xru.3 - 4 715 c.392C>T c.(391-393)cCt>cTt p.P131L TCEA1_uc003xrv.3_Missense_Mutation_p.P110L|TCEA1_uc011ldw.2_Intron|TCEA1_uc003xrw.1_Non-coding_Transcript NM_006756 NP_006747 P23193 TCEA1_HUMAN Homo sapiens transcription elongation factor A (SII), 1 (TCEA1), transcript variant 1, mRNA. 131 positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction nucleoplasm DNA binding|translation elongation factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699) TGGTGCCCGAGGAAAGGATGA 0.463000 T PLAG1 salivary adenoma 20 3 0 0 1 0 0 PROSER1 80209 broad.mit.edu 37 13 39588539 39588539 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:39588539G>A uc001uwy.3 - 10 1723 c.850C>T c.(850-852)Cct>Tct p.P284S PROSER1_uc001uwz.3_Missense_Mutation_p.P262S NM_025138 NP_079414 Q86XN7 CM023_HUMAN Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA. 284 Pro-rich. GATGCAGTAGGAACAGGAGTT 0.478000 28 6 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290969 141290969 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:141290969C>T uc022cfj.1 - 0 805 c.805G>A c.(805-807)Gag>Aag p.E269K MAGEC2_uc004fbu.2_Missense_Mutation_p.E269K NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA. 269 MAGE. cytoplasm|nucleus p.E269*(2) NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) TCCCTAGGCTCCCCATAGACG 0.527000 HNSCC(46;0.14) 66 8 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3067525 3067525 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:3067525C>T uc002klp.3 - 37 5127 c.4793G>A c.(4792-4794)gGa>gAa p.G1598E MYOM1_uc002klq.3_Missense_Mutation_p.G1502E NM_003803 NP_003794 P52179 MYOM1_HUMAN Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA. 1598 Ig-like C2-type 5. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AGGCGGGTCTCCCCACACGTT 0.527000 40 4 0 0 1 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220340695 220340695 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:220340695G>A uc010puk.1 - 25 3191 c.3027C>T c.(3025-3027)ctC>ctT p.L1009L RAB3GAP2_uc021pjf.1_Silent_p.L1009L|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Silent_p.L589L NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA. 1009 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) GCAAGACATCGAGCTCAAGGC 0.408000 26 4 0 0 1 0 0 ACOT2 10965 broad.mit.edu 37 14 74009849 74009849 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:74009849C>T uc001xol.1 + 2 954 c.756C>T c.(754-756)gtC>gtT p.V252V HEATR4_uc021rwe.1_Intron|HEATR4_uc021rwf.1_Intron|ACOT2_uc010tuc.2_Intron NM_001037161 NP_001032238 P49753 ACOT2_HUMAN Homo sapiens acyl-CoA thioesterase 1 (ACOT1), mRNA. 314 acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process mitochondrion carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639) CGGCTGCTGTCGTCATCAACG 0.567000 80 16 0 0 1 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51397292 51397292 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:51397292C>T uc001zyy.3 - 0 182 c.82G>A c.(82-84)Gga>Aga p.G28R NM_207381 NP_997264 Q5GJ75 TP8L3_HUMAN Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA. 28 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) CCTGCATATCCGTTGACCCAC 0.522000 53 22 0 0 1 0 0 INMT 11185 broad.mit.edu 37 7 30795310 30795310 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:30795310C>T uc003tbs.1 + 2 651 c.635C>T c.(634-636)tCc>tTc p.S212F FAM188B_uc010kwe.3_Intron|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Missense_Mutation_p.S211F NM_006774 NP_006765 O95050 INMT_HUMAN Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA. 212 cytoplasm amine N-methyltransferase activity kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1) 23 CGTGAATTTTCCTGCGTGGCC 0.597000 35 5 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26689584 26689584 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:26689584G>A uc002rhk.3 - 35 4625 c.4498C>T c.(4498-4500)Cgg>Tgg p.R1500W OTOF_uc010yla.2_Missense_Mutation_p.R230W|OTOF_uc002rhh.3_Missense_Mutation_p.R733W|OTOF_uc002rhi.3_Missense_Mutation_p.R810W|OTOF_uc002rhj.3_Missense_Mutation_p.R733W NM_194248 NP_919224 Q9HC10 OTOF_HUMAN Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA. 1500 C2 4. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTCTCACCCGGACCACATAG 0.587000 51 5 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144098483 144098483 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:144098483G>A uc022aoj.1 - 3 500 c.500C>T c.(499-501)cCc>cTc p.P167L NM_001080413 NP_001073882 O60393 NOBOX_HUMAN Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA. 167 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) GTCTTTGTGGGGAGCCCTGGA 0.612000 34 4 0 0 1 0 0 OR52N4 390072 broad.mit.edu 37 11 5776069 5776069 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:5776069C>T uc001mbu.3 + 0 147 c.99C>T c.(97-99)ttC>ttT p.F33F TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA. 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) CCTTCCCATTCTGCTCTATGT 0.443000 11 4 0 0 1 0 0 CHAC1 79094 broad.mit.edu 37 15 41247759 41247759 + Nonsense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:41247759C>A uc001znh.2 + 2 602 c.582C>A c.(580-582)taC>taA p.Y194* CHAC1_uc010uct.1_Nonsense_Mutation_p.Y149* NM_024111 NP_077016 Q9BUX1 CHAC1_HUMAN Homo sapiens ChaC, cation transport regulator homolog 1 (E. coli) (CHAC1), transcript variant 1, mRNA. 194 apoptosis in response to endoplasmic reticulum stress|response to unfolded protein cytosol protein binding endometrium(1)|large_intestine(1)|skin(1) 3 all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163) ACCCTGGTTACCTGGGCCCTG 0.592000 110 8 0.000157383 0.000158986 1 1 0 HOOK2 29911 broad.mit.edu 37 19 12882216 12882216 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:12882216G>A uc002muy.2 - 7 766 c.595C>T c.(595-597)Cgg>Tgg p.R199W HOOK2_uc002muz.2_Missense_Mutation_p.R199W NM_013312 NP_037444 Q96ED9 HOOK2_HUMAN Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA. 199 Sufficient for interaction with microtubules. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport FHF complex|centrosome|microtubule identical protein binding|microtubule binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 CCTACCTGCCGCTCCAGATCC 0.597000 21 4 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23191380 23191380 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:23191380C>T uc009vqj.1 + 4 1123 c.978C>T c.(976-978)tcC>tcT p.S326S EPHB2_uc001bge.3_Silent_p.S326S|EPHB2_uc001bgf.3_Silent_p.S326S|EPHB2_uc010odu.2_Silent_p.S326S|MIR4253_uc021oic.1_5'Flank NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 326 Fibronectin type-III 1. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CCATCCCCTCCGCGCCCCAGG 0.652000 85 7 0 0 1 0 0 TADA3 10474 broad.mit.edu 37 3 9831593 9831593 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:9831593G>A uc003bsx.1 - 2 810 c.262C>T c.(262-264)Cga>Tga p.R88* TADA3_uc010hcn.1_Nonsense_Mutation_p.R88*|TADA3_uc003bsy.3_Nonsense_Mutation_p.R88*|TTLL3_uc003btb.2_5'Flank|TTLL3_uc003bta.2_5'Flank|TTLL3_uc003bsz.2_5'Flank|TTLL3_uc003btd.4_5'Flank|TTLL3_uc003btc.2_5'Flank NM_006354 NP_006345 O75528 TADA3_HUMAN Homo sapiens transcriptional adaptor 3 (TADA3), transcript variant 1, mRNA. 88 estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 TCATGGTCTCGACCCAGCTTC 0.557000 79 7 0 0 1 0 0 MYOZ3 91977 broad.mit.edu 37 5 150052042 150052042 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:150052042A>T uc003lss.2 + 5 1152 c.565A>T c.(565-567)Aac>Tac p.N189Y MYOZ3_uc003lsr.2_Missense_Mutation_p.N189Y NM_001122853 NP_588612 Q8TDC0 MYOZ3_HUMAN Homo sapiens myozenin 3 (MYOZ3), transcript variant 1, mRNA. 189 Binding to ACTN2. sarcomere protein binding large_intestine(2)|lung(1)|skin(2) 5 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCCAGCCCCAACGACTACCG 0.652000 35 5 0 0 1 0 0 ZNF490 57474 broad.mit.edu 37 19 12692059 12692059 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:12692059G>A uc002mtz.2 - 4 959 c.830C>T c.(829-831)cCc>cTc p.P277L NM_020714 NP_065765 Q9ULM2 ZN490_HUMAN Homo sapiens zinc finger protein 490 (ZNF490), mRNA. 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 18 ACATTTGTAGGGTTTCTCTCC 0.418000 54 10 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71748026 71748026 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:71748026G>A uc010fen.3 + 11 1282 c.1141G>A c.(1141-1143)Gaa>Aaa p.E381K DYSF_uc010fei.3_Missense_Mutation_p.E380K|DYSF_uc010feh.3_Missense_Mutation_p.E349K|DYSF_uc002sig.4_Missense_Mutation_p.E349K|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.E380K|DYSF_uc010fee.3_Missense_Mutation_p.E349K|DYSF_uc010fef.3_Missense_Mutation_p.E380K|DYSF_uc002sie.3_Missense_Mutation_p.E349K|DYSF_uc010feo.3_Missense_Mutation_p.E381K|DYSF_uc010fej.3_Missense_Mutation_p.E350K|DYSF_uc010fel.3_Missense_Mutation_p.E350K|DYSF_uc010fem.3_Missense_Mutation_p.E350K|DYSF_uc002sif.3_Missense_Mutation_p.E350K|DYSF_uc010fek.3_Missense_Mutation_p.E381K NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 349 C2 3. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GCCTGGGGACGAAGCGCCTGT 0.542000 79 5 0 0 1 0 0 CLEC4E 26253 broad.mit.edu 37 12 8687390 8687390 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:8687390C>T uc001quo.1 - 5 669 c.504G>A c.(502-504)ggG>ggA p.G168G NM_014358 NP_055173 Q9ULY5 CLC4E_HUMAN Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA. 168 C-type lectin. integral to membrane sugar binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) TGTTGGGCTCCCCTACATCCC 0.403000 56 7 0 0 1 0 0 SUN1 23353 broad.mit.edu 37 7 883151 883151 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:883151C>T uc021zym.1 + 4 672 c.652C>T c.(652-654)Caa>Taa p.Q218* SUN1_uc021zyl.1_Nonsense_Mutation_p.Q218*|SUN1_uc010ksa.1_Nonsense_Mutation_p.Q239*|SUN1_uc003sje.1_Nonsense_Mutation_p.Q218*|SUN1_uc011jvq.2_Intron|SUN1_uc003sjf.3_Nonsense_Mutation_p.Q168*|SUN1_uc003sjg.3_Nonsense_Mutation_p.Q29* NM_001130965 NP_001124437 O94901 SUN1_HUMAN Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA. 218 SYNE2-binding. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane SUN-KASH complex|integral to membrane|nuclear inner membrane protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GGACAGGAATCAAAAATGTAA 0.488000 280 18 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5530148 5530148 + Missense_Mutation SNP G A A rs146605906 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:5530148G>A uc021qcw.1 - 0 641 c.641C>T c.(640-642)cCg>cTg p.P214L HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_Missense_Mutation_p.P214L NM_017481 NP_059509 Q9H347 UBQL3_HUMAN Homo sapiens ubiquilin 3 (UBQLN3), mRNA. 214 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATAATTTCCGGGTTGTTAAG 0.512000 95 9 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106845243 106845243 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:106845243G>A uc022cce.1 + 0 1609 c.1241G>A c.(1240-1242)aGg>aAg p.R414K Q5JV73 FRPD3_HUMAN Homo sapiens mRNA for KIAA1817 protein, partial cds. 1358 FERM. cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 GGGAGGGAAAGGGACAGAGTC 0.672000 22 7 0 0 1 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48606530 48606530 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:48606530C>T uc010wmr.2 + 17 2996 c.2834C>T c.(2833-2835)aCc>aTc p.T945I MYCBPAP_uc002iqz.3_Non-coding_Transcript NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Homo sapiens MYCBP associated protein (MYCBPAP), mRNA. 908 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) GGGAAATACACCCAGAGCCTG 0.532000 33 10 0 0 1 0 0 ZFP3 124961 broad.mit.edu 37 17 4995279 4995279 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:4995279G>A uc002gaq.3 + 1 605 c.480G>A c.(478-480)atG>atA p.M160I ZFP3_uc021tog.1_Missense_Mutation_p.M160I NM_153018 NP_694563 Q96NJ6 ZFP3_HUMAN Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA. 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1) 20 TCCAGCATATGAGAGTTCATA 0.398000 47 4 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34158556 34158556 + Silent SNP G A A rs142510996 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:34158556G>A uc001bxm.1 - 24 4203 c.4026C>T c.(4024-4026)atC>atT p.I1342I CSMD2_uc001bxn.1_Silent_p.I1302I|CSMD2_uc001bxo.1_Silent_p.I215I NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1302 CUB 8. integral to membrane|plasma membrane protein binding p.L1342L(1)|p.E1341Q(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCTCTGCTTCGATGGTCCAGA 0.567000 147 5 0 0 1 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999943 46999943 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:46999943G>A uc001jec.3 + 2 1198 c.1063G>A c.(1063-1065)Gaa>Aaa p.E355K GPRIN2_uc021ppt.1_Missense_Mutation_p.E355K NM_014696 NP_055511 O60269 GRIN2_HUMAN Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA. 355 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 TCCGTCCCTGGAAGCGCCTGC 0.682000 109 9 0 0 1 0 0 FLRT1 23769 broad.mit.edu 37 11 63883944 63883944 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:63883944G>A uc021qks.1 + 0 205 c.205G>A c.(205-207)Gac>Aac p.D69N MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.D69N NM_013280 NP_037412 Q9NZU1 FLRT1_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA. 41 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity p.N68N(1) breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 CTACTGCAACGACCGGGGACT 0.607000 32 7 0 0 1 0 0 LGALS4 3960 broad.mit.edu 37 19 39299543 39299543 + Silent SNP G A A rs145088175 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:39299543G>A uc002ojg.3 - 2 394 c.180C>T c.(178-180)gtC>gtT p.V60V LGALS4_uc010xuj.2_Silent_p.V60V NM_006149 NP_006140 P56470 LEG4_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 4 (LGALS4), mRNA. 60 Galectin 1. cell adhesion cytosol|plasma membrane sugar binding NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) AGTGGAAGGCGACGTCTGAGC 0.632000 20 7 0 0 1 0 0 SLC24A4 123041 broad.mit.edu 37 14 92958114 92958114 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:92958114G>A uc001yak.3 + 14 1666 c.1643G>A c.(1642-1644)gGa>gAa p.G548E SLC24A4_uc001yai.3_Missense_Mutation_p.G484E|SLC24A4_uc010twm.2_Missense_Mutation_p.G529E|SLC24A4_uc010auj.3_Missense_Mutation_p.G420E|SLC24A4_uc010twn.2_Missense_Mutation_p.G304E|SLC24A4_uc001yan.3_Missense_Mutation_p.G242E NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA. 548 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) GTTAATTATGGATCAACAGTA 0.512000 40 13 0 0 1 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4457550 4457550 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:4457550G>A uc002fxz.4 - 2 380 c.318C>T c.(316-318)ctC>ctT p.L106L MYBBP1A_uc002fyb.4_Silent_p.L106L NM_001105538 NP_001099008 Q9BQG0 MBB1A_HUMAN Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA. 106 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent NLS-dependent protein nuclear import complex|cytoplasm|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 TGCACAAGGGGAGGTCTTCAA 0.547000 69 13 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80788344 80788344 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:80788344C>T uc002kga.3 - 2 2157 c.1846G>A c.(1846-1848)Gag>Aag p.E616K TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN Homo sapiens zinc finger protein 750 (ZNF750), mRNA. 616 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GGAGCCTCCTCGCCGGGGCCT 0.682000 65 6 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109684074 109684074 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:109684074C>T uc001tob.3 + 38 5511 c.5392C>T c.(5392-5394)Cgc>Tgc p.R1798C ACACB_uc001toc.3_Missense_Mutation_p.R1798C|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.R464C NM_001093 NP_001084 O00763 ACACB_HUMAN Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA. 1798 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation Golgi apparatus|cytosol|endomembrane system|membrane ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CATCACCTTTCGCATTGGATC 0.567000 92 8 0 0 1 0 0 LOC649330 649330 broad.mit.edu 37 1 12907745 12907745 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12907745G>A uc010obf.2 - 1 624 c.398C>T c.(397-399)cCt>cTt p.P133L LOC649330_uc009vno.2_Missense_Mutation_p.P133L NM_001013631 NP_001013653 B7ZW38 B7ZW38_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA. 133 nucleic acid binding|nucleotide binding AATGGGAGGAGGAGGAGGTAC 0.493000 77 9 0 0 1 0 0 STAG3 10734 broad.mit.edu 37 7 99808770 99808770 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:99808770G>A uc003utx.1 + 29 3530 c.3375G>A c.(3373-3375)atG>atA p.M1125I STAG3_uc011kjk.1_Missense_Mutation_p.M1067I|GATS_uc010lgt.3_Intron|GATS_uc003uty.4_Intron|GATS_uc003utz.4_Intron|GATS_uc003uua.4_Intron|STAG3_uc003uub.1_Missense_Mutation_p.M349I NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN Homo sapiens stromal antigen 3 (STAG3), mRNA. 1125 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGAAAGAGATGGAGGAAGAAG 0.587000 48 5 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56467272 56467272 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:56467272C>T uc002qmh.3 + 2 1919 c.1848C>T c.(1846-1848)atC>atT p.I616I NLRP8_uc010etg.3_Silent_p.I616I NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 616 cytoplasm ATP binding p.E615K(1) breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TGCATGAAATCCGGGAGGAAG 0.443000 39 4 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049648 107049648 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:107049648C>A uc010ywi.1 - 15 2356 c.2299G>T c.(2299-2301)Ggt>Tgt p.G767C NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA. 767 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CGCAAAGAACCATTTTTATAG 0.383000 210 9 0.000442599 0.000446911 1 1 0 RGS7 6000 broad.mit.edu 37 1 241262032 241262032 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:241262032C>T uc001hyv.2 - 2 439 c.109G>A c.(109-111)Gaa>Aaa p.E37K RGS7_uc010pyh.2_Missense_Mutation_p.E11K|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.E37K|RGS7_uc009xgn.1_Missense_Mutation_p.E37K|RGS7_uc001hyw.2_Missense_Mutation_p.E37K NM_002924 NP_002915 P49802 RGS7_HUMAN Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA. 37 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) CCATTTTTTTCATCTTGCATC 0.348000 26 4 0 0 1 0 0 KCNC2 3747 broad.mit.edu 37 12 75601755 75601755 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:75601755C>T uc001sxg.1 - 1 553 c.9G>A c.(7-9)aaG>aaA p.K3K KCNC2_uc009zry.3_Silent_p.K3K|KCNC2_uc001sxe.3_Silent_p.K3K|KCNC2_uc001sxf.3_Silent_p.K3K|KCNC2_uc010stw.1_Silent_p.K3K NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA. 3 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 TGTTCTCGATCTTGCCCATCT 0.577000 37 8 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212615400 212615400 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:212615400G>A uc002veg.1 - 4 684 c.586C>T c.(586-588)Cgt>Tgt p.R196C ERBB4_uc002veh.1_Missense_Mutation_p.R196C|ERBB4_uc010zji.1_Missense_Mutation_p.R196C|ERBB4_uc010zjj.1_Missense_Mutation_p.R196C|ERBB4_uc010fut.1_Missense_Mutation_p.R196C NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 196 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CCCCAGCAACGGCCAGTACAG 0.453000 TSP Lung(8;0.080) 75 10 0 0 1 0 0 CDHR3 222256 broad.mit.edu 37 7 105653376 105653376 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:105653376G>A uc003vdl.4 + 8 1231 c.1123G>A c.(1123-1125)Gac>Aac p.D375N CDHR3_uc003vdk.3_Missense_Mutation_p.D23N|CDHR3_uc011kls.1_Non-coding_Transcript|CDHR3_uc003vdm.4_Missense_Mutation_p.D362N|CDHR3_uc011klt.2_Missense_Mutation_p.D287N|CDHR3_uc003vdn.3_Missense_Mutation_p.D92N NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN Homo sapiens cadherin-related family member 3 (CDHR3), mRNA. 375 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 CTTTGATGATGACAGTGAGGC 0.483000 142 33 0 0 1 0 0 PRDM14 63978 broad.mit.edu 37 8 70964488 70964488 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:70964488C>T uc003xym.3 - 7 1742 c.1540G>A c.(1540-1542)Gag>Aag p.E514K NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN Homo sapiens PR domain containing 14 (PRDM14), mRNA. 514 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) AAGGGCTTCTCCCCGGAGTGC 0.512000 97 21 0 0 1 0 0 GSTA5 221357 broad.mit.edu 37 6 52701058 52701058 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:52701058C>T uc003pba.1 - 3 318 c.248G>A c.(247-249)gGg>gAg p.G83E NM_153699 NP_714543 Q7RTV2 GSTA5_HUMAN Homo sapiens glutathione S-transferase alpha 5 (GSTA5), mRNA. 83 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity p.G83R(1) endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Lung NSC(77;0.0912) Glutathione(DB00143) CATGTCTTTCCCATAAAGGTT 0.448000 107 5 0 0 1 0 0 VIP 7432 broad.mit.edu 37 6 153077365 153077365 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:153077365G>A uc003qpe.3 + 4 604 c.432G>A c.(430-432)aaG>aaA p.K144K VIP_uc003qpf.3_Silent_p.K143K|VIP_uc010kjd.3_Silent_p.K143K NM_003381 NP_003372 P01282 VIP_HUMAN Homo sapiens vasoactive intestinal peptide (VIP), transcript variant 1, mRNA. 144 G-protein coupled receptor protein signaling pathway|body fluid secretion|positive regulation of cell proliferation extracellular region neuropeptide hormone activity haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1) 6 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144) TGGCTGTAAAGAAATATTTGA 0.383000 11 3 0 0 1 0 0 C6orf223 221416 broad.mit.edu 37 6 43968829 43968829 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:43968829C>T uc003own.3 + 1 177 c.157C>T c.(157-159)Ctc>Ttc p.L53F AK024736_uc003owm.1_Non-coding_Transcript|C6orf223_uc003owo.3_Missense_Mutation_p.P67L NM_153246 NP_694978 Q8N319 CF223_HUMAN Homo sapiens chromosome 6 open reading frame 223 (C6orf223), transcript variant 1, mRNA. 53 central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1) 6 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) TTCAGCTGTCCTCAaagcagg 0.542000 115 5 0 0 1 0 0 TCRB 0 broad.mit.edu 37 7 142120058 142120058 + Missense_Mutation SNP C T T rs141013676 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:142120058C>T uc022anf.1 - 1 153 c.124G>A c.(124-126)Gat>Aat p.D42N TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Intron SubName: Full=V_segment translation product; Flags: Fragment; AGAGTTACATCCTGTCCCCTC 0.468000 18 4 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49702259 49702259 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:49702259C>T uc003cxe.4 + 9 11882 c.11768C>T c.(11767-11769)tCc>tTc p.S3923F NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 3923 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AAAAAATTTTCCTCATTCTGG 0.552000 88 7 0 0 1 0 0 ADRA1A 148 broad.mit.edu 37 8 26627890 26627890 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:26627890C>T uc003xfc.1 - 1 1613 c.1177G>A c.(1177-1179)Ggc>Agc p.G393S ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.G393S|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.G393S|ADRA1A_uc003xfh.1_Missense_Mutation_p.G393S NM_033303 NP_150646 P35348 ADA1A_HUMAN Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA. 393 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) TCACAAACGCCATCCGTCTTG 0.562000 83 8 0 0 1 0 0 C5AR1 728 broad.mit.edu 37 19 47823546 47823546 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:47823546C>T uc002pgj.1 + 1 561 c.512C>T c.(511-513)tCc>tTc p.S171F NM_001736 NP_001727 P21730 C5AR_HUMAN Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA. 171 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) ACCATACCCTCCTTCCTGTAC 0.612000 126 17 0 0 1 0 0 SMTNL2 342527 broad.mit.edu 37 17 4496226 4496226 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:4496226C>T uc002fyf.1 + 2 557 c.490C>T c.(490-492)Cca>Tca p.P164S SMTNL2_uc002fye.2_Missense_Mutation_p.P20S NM_001114974 NP_940903 Q2TAL5 SMTL2_HUMAN Homo sapiens smoothelin-like 2 (SMTNL2), transcript variant 1, mRNA. 164 breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1) 13 READ - Rectum adenocarcinoma(115;0.0325) TGTTCCAGGTCCAGGCGATGG 0.662000 41 4 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42335538 42335538 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:42335538C>T uc002igf.4 - 10 1247 c.1098G>A c.(1096-1098)ggG>ggA p.G366G SLC4A1_uc021tyc.1_Intron NM_000342 NP_000333 P02730 B3AT_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA. 366 bicarbonate transport|cellular ion homeostasis Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CATCTGGGCCCCCATTTAAGT 0.582000 71 8 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85964350 85964350 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:85964350G>A uc001kcv.3 + 8 956 c.851G>A c.(850-852)aGc>aAc p.S284N CDHR1_uc001kcw.3_Missense_Mutation_p.S284N|CDHR1_uc009xst.3_Missense_Mutation_p.S43N NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA. 284 Cadherin 3. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 ATTCTCTACAGCCTTGTAAAT 0.562000 75 4 0 0 1 0 0 TRIML2 205860 broad.mit.edu 37 4 189012810 189012810 + Missense_Mutation SNP G A A rs141991055 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:189012810G>A uc011cle.1 - 7 1328 c.1106C>T c.(1105-1107)tCg>tTg p.S369L TRIML2_uc003izj.1_Missense_Mutation_p.S122L|TRIML2_uc003izk.1_Missense_Mutation_p.S102L|TRIML2_uc003izl.2_Missense_Mutation_p.S294L NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA. 294 B30.2/SPRY. ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) CCCCATCACCGACCCCGTGAG 0.572000 160 9 0 0 1 0 0 MTAP 4507 broad.mit.edu 37 9 21816760 21816760 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:21816760C>T uc003zph.3 + 2 281 c.168C>T c.(166-168)gtC>gtT p.V56V MTAP_uc003zpi.1_Silent_p.V56V|MTAP_uc010mit.3_Non-coding_Transcript|MTAP_uc011lnk.2_Silent_p.V73V|MTAP_uc011lnl.2_5'Flank NM_002451 NP_002442 Q13126 MTAP_HUMAN Homo sapiens methylthioadenosine phosphorylase (MTAP), mRNA. 56 V -> I (in dbSNP:rs7023954). nucleoside metabolic process cytoplasm S-methyl-5-thioadenosine phosphorylase activity|phosphorylase activity p.0(1)|p.0?(1) central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1) 10 all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173) GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15) Adenine(DB00173) TTGATTGCGTCCTCCTTGCAA 0.318000 86 15 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105890130 105890130 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:105890130G>A uc002tcq.3 - 8 1767 c.1683C>T c.(1681-1683)ttC>ttT p.F561F TGFBRAP1_uc010fjc.3_Silent_p.F330F|TGFBRAP1_uc002tcr.4_Silent_p.F561F NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA. 561 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 GTCTCTTGGTGAAAACCTGAA 0.413000 47 4 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12321191 12321191 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12321191C>T uc001atv.3 + 11 1540 c.1399C>T c.(1399-1401)Cct>Tct p.P467S VPS13D_uc001atw.3_Missense_Mutation_p.P467S NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 467 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GCAGTGGATTCCTGAAGAGAT 0.502000 111 11 0 0 1 0 0 B4GALNT4 338707 broad.mit.edu 37 11 379966 379966 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:379966C>T uc001lpb.3 + 15 2598 c.2589C>T c.(2587-2589)ttC>ttT p.F863F NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA. 863 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGGTGGATTTCGAGAGCGAGG 0.677000 65 11 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19338912 19338912 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:19338912C>T uc002nlz.3 + 7 2582 c.2483C>T c.(2482-2484)cCc>cTc p.P828L NCAN_uc010ecc.1_Missense_Mutation_p.P392L NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 828 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) ACTGTGAATCCCATGGATTCC 0.562000 59 12 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233120181 233120181 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:233120181C>T uc001hvl.2 - 33 6518 c.6283G>A c.(6283-6285)Ggg>Agg p.G2095R PCNXL2_uc001hvk.1_3'UTR|PCNXL2_uc001hvm.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 2095 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TGAAGCTGCCCCTGCTCGGTG 0.592000 100 4 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 4013104 4013104 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:4013104G>A uc002fxe.3 - 5 1184 c.1120C>T c.(1120-1122)Cat>Tat p.H374Y ZZEF1_uc002fxk.1_Missense_Mutation_p.H374Y NM_015113 NP_055928 O43149 ZZEF1_HUMAN Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA. 374 DOC. calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CTGAGACCATGAATTCTAGTG 0.433000 46 6 0 0 1 0 0 CLEC18B 497190 broad.mit.edu 37 16 74452064 74452064 + Silent SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:74452064A>G uc002fct.3 - 2 549 c.349T>C c.(349-351)Ttg>Ctg p.L117L CLEC18B_uc002fcu.3_Silent_p.L117L|CLEC18B_uc010vmu.1_Intron|CLEC18B_uc010vmw.1_Silent_p.L117L NM_001011880 NP_001011880 Q6UXF7 CL18B_HUMAN Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA. 117 SCP. extracellular region sugar binding endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 AAGGACGCCAAGCCCGCGGGC 0.662000 54 4 0 0 1 0 0 D2HGDH 728294 broad.mit.edu 37 2 242689687 242689687 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:242689687C>T uc002wce.1 + 6 1148 c.975C>T c.(973-975)ctC>ctT p.L325L D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Silent_p.L191L|D2HGDH_uc002wcg.1_Intron|D2HGDH_uc002wch.3_Non-coding_Transcript|D2HGDH_uc002wci.2_Silent_p.L24L NM_152783 NP_689996 Q8N465 D2HDH_HUMAN Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA. 325 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) GGCGCCATCTCCACCTGGCCA 0.617000 107 13 0 0 1 0 0 SEC31A 22872 broad.mit.edu 37 4 83750184 83750184 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:83750184G>A uc003hnh.3 - 22 3176 c.2996C>T c.(2995-2997)cCa>cTa p.P999L SEC31A_uc003hnd.3_Missense_Mutation_p.P168L|SEC31A_uc003hne.3_Missense_Mutation_p.P748L|SEC31A_uc011ccl.2_Missense_Mutation_p.P945L|SEC31A_uc003hnl.3_Missense_Mutation_p.P846L|SEC31A_uc003hng.3_Missense_Mutation_p.P984L|SEC31A_uc011ccm.2_Missense_Mutation_p.P979L|SEC31A_uc003hni.3_Missense_Mutation_p.P885L|SEC31A_uc003hnk.3_Missense_Mutation_p.P960L|SEC31A_uc003hnf.3_Missense_Mutation_p.P999L|SEC31A_uc011ccn.2_Missense_Mutation_p.P984L|SEC31A_uc003hnm.3_Missense_Mutation_p.P999L NM_014933 NP_055748 O94979 SC31A_HUMAN Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA. 999 Interaction with PDCD6.|Pro-rich. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) GTTCAAAGCTGGAGGGTCATT 0.388000 24 9 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215851370 215851370 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:215851370C>T uc002vew.3 - 27 4279 c.4059G>A c.(4057-4059)aaG>aaA p.K1353K ABCA12_uc002vev.3_Silent_p.K1035K|ABCA12_uc010zjn.2_Silent_p.K280K NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 1353 ABC transporter 1. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AGCCATAGATCTTTGTGACCC 0.453000 32 7 0 0 1 0 0 DRGX 644168 broad.mit.edu 37 10 50594776 50594776 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:50594776G>A uc010qgq.2 - 3 378 c.378C>T c.(376-378)ccC>ccT p.P126P DRGX_uc021pqd.1_Silent_p.P121P NM_001080520 NP_001073989 C9JW76 C9JW76_HUMAN Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA. 126 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P125Q(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 GGTCCCCAGGGGGCGGGGAGT 0.657000 71 11 0 0 1 0 0 WDR59 79726 broad.mit.edu 37 16 74972117 74972117 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:74972117G>A uc002fdh.1 - 7 684 c.582C>T c.(580-582)atC>atT p.I194I WDR59_uc002fdi.3_Silent_p.I194I|WDR59_uc021tli.1_Silent_p.I173I NM_030581 NP_085058 Q6PJI9 WDR59_HUMAN Homo sapiens WD repeat domain 59 (WDR59), mRNA. 194 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 CCAGGCCATGGATTTTGGAGA 0.493000 72 6 0 0 1 0 0 CARD10 29775 broad.mit.edu 37 22 37900714 37900714 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:37900714G>A uc003asx.1 - 7 1463 c.1446C>T c.(1444-1446)ttC>ttT p.F482F CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_Silent_p.F196F|CARD10_uc003asy.1_Silent_p.F482F NM_014550 NP_055365 Q9BWT7 CAR10_HUMAN Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA. 482 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) GAGGGGAGGGGAACTCGCTCA 0.612000 51 4 0 0 1 0 0 HDAC4 9759 broad.mit.edu 37 2 239990269 239990269 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:239990269G>A uc002vyk.4 - 22 3562 c.2770C>T c.(2770-2772)Ccg>Tcg p.P924S HDAC4_uc010fyy.3_Missense_Mutation_p.P881S NM_006037 NP_006028 P56524 HDAC4_HUMAN Homo sapiens histone deacetylase 4 (HDAC4), mRNA. 924 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) ACCACATCCGGGGCAAACTCG 0.602000 54 4 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240072361 240072361 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:240072361G>A uc021plc.1 + 0 1610 c.1610G>A c.(1609-1611)aGc>aAc p.S537N CHRM3_uc001hyp.3_Missense_Mutation_p.S537N NM_000740 NP_000731 P20309 ACM3_HUMAN Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA. 537 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TACATCAACAGCACCGTGAAC 0.483000 38 7 0 0 1 0 0 P2RX1 5023 broad.mit.edu 37 17 3801321 3801321 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:3801321C>T uc002fww.3 - 10 1557 c.1116G>A c.(1114-1116)gaG>gaA p.E372E NM_002558 NP_002549 P51575 P2RX1_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA. 372 platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 13 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) GCCCCATGTCCTCAGCGTATT 0.617000 100 9 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196300324 196300324 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:196300324G>A uc001gtd.1 - 17 2125 c.2065C>T c.(2065-2067)Cat>Tat p.H689Y KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.H639Y|KCNT2_uc001gtf.1_Missense_Mutation_p.H689Y|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.H689Y|KCNT2_uc001gth.1_Missense_Mutation_p.H210Y NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA. 689 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 ACTTTTTCATGAAGGAGATGA 0.299000 20 5 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65358037 65358037 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:65358037C>T uc001oeo.4 + 15 4522 c.4257C>T c.(4255-4257)atC>atT p.I1419I NM_001099409 NP_001092879 Q8N3D4 EH1L1_HUMAN Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA. 1419 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 ACGCTCTCATCCGGAGGCAGG 0.567000 36 6 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56552295 56552295 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:56552295G>A uc002qmj.3 + 10 2794 c.2794G>A c.(2794-2796)Gac>Aac p.D932N NLRP5_uc002qmi.3_Missense_Mutation_p.D913N NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 932 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CAGACTGGAGGACTGTGGCAT 0.547000 30 5 0 0 1 0 0 FASLG 356 broad.mit.edu 37 1 172634991 172634992 + Nonsense_Mutation DNP GA AT AT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:172634991_172634992GA>AT uc001gis.3 + 3 838_839 c.681_682GA>AT c.(679-684)gggaag>ggATag p.K228* FASLG_uc001git.3_3'UTR NM_000639 NP_000630 P48023 TNFL6_HUMAN Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA. 228 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 TGATGGAGGGGAAGATGATGAG 0.510000 50 4 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189870087 189870087 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:189870087G>A uc002uqj.1 + 40 3060 c.2943G>A c.(2941-2943)ggG>ggA p.G981G NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 981 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.G981G(2) NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GTGAAAGTGGGAAACCAGGAG 0.428000 58 6 0 0 1 0 0 OPRM1 4988 broad.mit.edu 37 6 154412276 154412276 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:154412276G>A uc011efe.2 + 4 1635 c.1112G>A c.(1111-1113)cGa>cAa p.R371Q OPRM1_uc011efd.2_Missense_Mutation_p.R178Q|OPRM1_uc011efc.1_Missense_Mutation_p.R197Q|OPRM1_uc003qpn.2_Missense_Mutation_p.R278Q|OPRM1_uc003qpo.1_Missense_Mutation_p.R278Q|OPRM1_uc011eff.1_Missense_Mutation_p.R278Q|OPRM1_uc011efg.1_Missense_Mutation_p.R278Q|OPRM1_uc011efi.2_Missense_Mutation_p.R278Q|OPRM1_uc011efh.1_Missense_Mutation_p.R278Q|OPRM1_uc003qpq.1_Missense_Mutation_p.R278Q|OPRM1_uc003qpr.2_Missense_Mutation_p.R278Q|OPRM1_uc003qpt.1_Missense_Mutation_p.R278Q|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.R178Q|OPRM1_uc003qpu.2_Missense_Mutation_p.R178Q NM_001145279 NP_001138751 P35372 OPRM_HUMAN Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA. 278 behavior|negative regulation of cell proliferation|sensory perception Golgi apparatus|endoplasmic reticulum|integral to plasma membrane mu-opioid receptor activity|protein binding p.R278Q(2)|p.N371H(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) AGGAATCTTCGAAGGATCACC 0.498000 39 8 0 0 1 0 0 ZNF341 84905 broad.mit.edu 37 20 32344962 32344962 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:32344962C>T uc002wzy.3 + 5 770 c.750C>T c.(748-750)aaC>aaT p.N250N ZNF341_uc002wzx.3_Silent_p.N250N|ZNF341_uc010geq.3_Silent_p.N160N|ZNF341_uc010ger.3_Non-coding_Transcript NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN Homo sapiens zinc finger protein 341 (ZNF341), mRNA. 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 AGGTGCCAAACCAGTGTGTGG 0.597000 196 29 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53854452 53854452 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:53854452C>T uc010ydv.1 + 3 641 c.524C>T c.(523-525)tCa>tTa p.S175L ZNF845_uc010ydw.1_Missense_Mutation_p.S175L NM_138374 NP_612383 Q96IR2 ZN845_HUMAN Homo sapiens zinc finger protein 845 (ZNF845), mRNA. 175 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TCGTTGGTTTCAACATCCCAA 0.388000 55 6 0 0 1 0 0 CCR1 1230 broad.mit.edu 37 3 46245532 46245532 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:46245532G>A uc003cph.1 - 1 344 c.273C>T c.(271-273)atC>atT p.I91I CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.I91I NM_001295 NP_001286 P32246 CCR1_HUMAN Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA. 91 G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) ACTTGTAGTCGATCCAGAAGG 0.453000 67 4 0 0 1 0 0 GNA13 10672 broad.mit.edu 37 17 63010527 63010527 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:63010527C>T uc002jfc.3 - 3 1191 c.982G>A c.(982-984)Gaa>Aaa p.E328K GNA13_uc010wqh.2_Missense_Mutation_p.E233K NM_006572 NP_006563 Q14344 GNA13_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha 13 (GNA13), mRNA. 328 Rho protein signal transduction|activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding p.E328Q(4) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1) 34 CGGAAACATTCCACCAGGAAT 0.478000 59 7 0 0 1 0 0 LACTB 114294 broad.mit.edu 37 15 63419597 63419597 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:63419597C>T uc002alw.3 + 3 733 c.661C>T c.(661-663)Cgt>Tgt p.R221C LACTB_uc002alv.3_Missense_Mutation_p.R221C NM_032857 NP_116246 P83111 LACTB_HUMAN Homo sapiens lactamase, beta (LACTB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 221 mitochondrion hydrolase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1) 12 AAGTGGAATTCGTCATTATGA 0.299000 83 6 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 6030346 6030346 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:6030346C>T uc001qnm.2 - 2 454 c.382G>A c.(382-384)Ggc>Agc p.G128S ANO2_uc021qtt.1_Missense_Mutation_p.G132S NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN Homo sapiens anoctamin 2 (ANO2), mRNA. 132 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 GGCTCCTTGCCTGTCTCCCCA 0.617000 21 5 0 0 1 0 0 DUSP21 63904 broad.mit.edu 37 X 44703567 44703567 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:44703567C>T uc004dgd.3 + 0 319 c.189C>T c.(187-189)ttC>ttT p.F63F NM_022076 NP_071359 Q9H596 DUS21_HUMAN Homo sapiens dual specificity phosphatase 21 (DUSP21), mRNA. 63 Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase. cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3) 19 ACGTATTCTTCGAGGGCATTC 0.502000 58 8 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70931508 70931508 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:70931508C>T uc021vjc.1 - 3 532 c.267G>A c.(265-267)caG>caA p.Q89Q ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Silent_p.Q89Q|ADD2_uc002sgz.3_Silent_p.Q89Q|ADD2_uc010fdt.2_Silent_p.Q89Q|ADD2_uc002shc.2_Silent_p.Q89Q|ADD2_uc010fdu.2_Silent_p.Q105Q NM_001185054 NP_001608 P35612 ADDB_HUMAN Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA. 89 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding F-actin capping protein complex|cytoplasm|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 AGTCCGCGATCTGTCGCAGGG 0.602000 92 27 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99723979 99723979 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:99723979C>T uc001yga.3 - 1 523 c.256G>A c.(256-258)Ggt>Agt p.G86S BCL11B_uc001ygb.3_Missense_Mutation_p.G86S NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA. 86 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) TAGCAGGCACCCAAGCTGCCG 0.587000 T TLX3 T-ALL 67 13 0 0 1 0 0 SSBP1 6742 broad.mit.edu 37 7 141443401 141443402 + Missense_Mutation DNP CC AT AT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:141443401_141443402CC>AT uc003vwo.1 + 3 204_205 c.126_127CC>AT c.(124-129)gaccct>gaATct p.42_43DP>ES SSBP1_uc011kri.1_Missense_Mutation_p.42_43DP>ES|SSBP1_uc010lnp.1_Missense_Mutation_p.42_43DP>ES NM_003143 NP_003134 Q04837 SSBP_HUMAN Homo sapiens single-stranded DNA binding protein 1 (SSBP1), nuclear gene encoding mitochondrial protein, mRNA. 42 SSB. DNA replication|positive regulation of helicase activity mitochondrial nucleoid single-stranded DNA binding large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1) 7 Melanoma(164;0.0171) TGGGTCAGGACCCTGTCTTGAG 0.465000 72 17 0 0 1 0 0 EVC2 132884 broad.mit.edu 37 4 5633672 5633672 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:5633672C>T uc003gij.3 - 10 1612 c.1558G>A c.(1558-1560)Gaa>Aaa p.E520K EVC2_uc003gik.3_Missense_Mutation_p.E440K|EVC2_uc011bwb.2_5'UTR NM_147127 NP_667338 Q86UK5 LBN_HUMAN Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA. 520 integral to membrane p.E520delE(1) NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 GCAAAGTCTTCTTCTTGTTGC 0.473000 53 6 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86772958 86772958 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:86772958G>A uc004efa.2 + 0 244 c.62G>A c.(61-63)tGg>tAg p.W21* KLHL4_uc004efb.2_Nonsense_Mutation_p.W21* NM_057162 NP_476503 Q9C0H6 KLHL4_HUMAN Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA. 21 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 CGCTGGAGGTGGTTTAGTCAT 0.488000 19 3 0 0 1 0 0 RRAD 6236 broad.mit.edu 37 16 66957811 66957811 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:66957811C>T uc002eqn.2 - 2 534 c.382G>A c.(382-384)Gat>Aat p.D128N RRAD_uc002eqo.2_Missense_Mutation_p.D128N NM_001128850 NP_004156 P55042 RAD_HUMAN Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA. 128 small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|calmodulin binding endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198) ATGGAGCGATCATAGGTGTGC 0.572000 111 8 0 0 1 0 0 DPEP2 64174 broad.mit.edu 37 16 68024756 68024756 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:68024756G>A uc010cey.3 - 5 1041 c.877C>T c.(877-879)Cgg>Tgg p.R293W DPEP2_uc002eve.3_Missense_Mutation_p.R293W|DPEP2_uc002evf.3_Non-coding_Transcript NM_022355 NP_071750 Q9H4A9 DPEP2_HUMAN Homo sapiens dipeptidase 2 (DPEP2), mRNA. 293 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) GGAACATTCCGAGCACTGTTG 0.587000 154 6 0 0 1 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52001352 52001352 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:52001352C>T uc002pwx.1 - 4 1381 c.1325G>A c.(1324-1326)gGg>gAg p.G442E SIGLEC12_uc002pww.1_Missense_Mutation_p.G324E|SIGLEC12_uc010eoy.1_Missense_Mutation_p.G169E NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA. 442 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) GGTGAATTCCCCTTCATCCTT 0.617000 46 5 0 0 1 0 0 OR2B6 26212 broad.mit.edu 37 6 27925719 27925719 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:27925719G>A uc011dkx.2 + 0 701 c.701G>A c.(700-702)cGa>cAa p.R234Q NM_012367 NP_036499 P58173 OR2B6_HUMAN Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA. 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCTGAAGGTCGACAAAAAGCA 0.453000 31 6 0 0 1 0 0 TBX10 347853 broad.mit.edu 37 11 67400524 67400524 + Silent SNP G A A rs149888346 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:67400524G>A uc001omp.3 - 4 688 c.600C>T c.(598-600)ttC>ttT p.F200F NM_005995 NP_005986 O75333 TBX10_HUMAN Homo sapiens T-box 10 (TBX10), mRNA. 200 FV -> LL (in Ref. 3; AAC23481). anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|lung(4)|ovary(1) 7 GTGGGTCCACGAAGACCACGT 0.562000 162 28 0 0 1 0 0 C6orf222 389384 broad.mit.edu 37 6 36298165 36298165 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:36298165C>T uc003oly.3 - 1 481 c.303G>A c.(301-303)aaG>aaA p.K101K NM_001010903 NP_001010903 P0C671 CF222_HUMAN Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA. 101 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 TCAGCATGGTCTTCAGCCACC 0.627000 67 8 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751732 19751732 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:19751732C>T uc009zzj.3 - 3 496 c.391G>A c.(391-393)Gga>Aga p.G131R NM_006001 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA. 131 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CCCTGCAGTCCCGTGCACAGA 0.577000 33 6 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140208757 140208757 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140208757G>A uc003lho.2 + 0 1108 c.1081G>A c.(1081-1083)Gaa>Aaa p.E361K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.E361K|PCDHAC2_uc011dab.2_Missense_Mutation_p.E361K NM_018909 NP_061732 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA. 376 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTGTACGTGAAGACGCTCA 0.507000 88 11 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561197 11561197 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:11561197C>T uc001ash.4 + 1 286 c.148C>T c.(148-150)Ccc>Tcc p.P50S PTCHD2_uc001asi.1_Missense_Mutation_p.P50S NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN Homo sapiens patched domain containing 2 (PTCHD2), mRNA. 50 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCGGCACTGGCCCCTGGCTTC 0.657000 62 16 0 0 1 0 0 METAP1 23173 broad.mit.edu 37 4 99969997 99969997 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:99969997C>T uc003huf.4 + 8 1018 c.901C>T c.(901-903)Cat>Tat p.H301Y METAP1_uc003hug.3_Non-coding_Transcript|METAP1_uc010ild.3_Intron NM_015143 NP_055958 P53582 AMPM1_HUMAN Homo sapiens methionyl aminopeptidase 1 (METAP1), mRNA. 301 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(123;3.12e-07) CAAGCTTTTTCATACAGCTCC 0.388000 62 7 0 0 1 0 0 SYMPK 8189 broad.mit.edu 37 19 46332353 46332353 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:46332353G>A uc002pdn.3 - 13 2105 c.1860C>T c.(1858-1860)ttC>ttT p.F620F SYMPK_uc002pdo.1_Silent_p.F620F|SYMPK_uc002pdp.1_Silent_p.F620F NM_004819 NP_004810 Q92797 SYMPK_HUMAN Homo sapiens symplekin (SYMPK), mRNA. 620 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) AGAGCCAGGCGAAGGCCAGGT 0.642000 75 15 0 0 1 0 0 VN1R2 317701 broad.mit.edu 37 19 53762528 53762528 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:53762528G>A uc002qbi.2 + 0 984 c.900G>A c.(898-900)agG>agA p.R300R NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA. 300 response to pheromone integral to membrane|plasma membrane pheromone receptor activity p.C299F(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) ACATCTGTAGGAACAATCTCT 0.493000 131 20 0 0 1 0 0 TBR1 10716 broad.mit.edu 37 2 162273212 162273212 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:162273212C>T uc002ubw.1 + 0 593 c.291C>T c.(289-291)ttC>ttT p.F97F TBR1_uc010foy.2_5'Flank NM_006593 NP_006584 Q16650 TBR1_HUMAN Homo sapiens T-box, brain, 1 (TBR1), mRNA. 97 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 GTCACAGTTTCGATGGCTCTG 0.577000 162 14 0 0 1 0 0 PIP5K1P1 206426 broad.mit.edu 37 6 7987602 7987602 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:7987602C>T uc003mxx.4 + 0 1268 c.833C>T c.(832-834)cCt>cTt p.P278L TXNDC5_uc003mxw.3_Intron Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 (PIP5K1P1), non-coding RNA. CAAGACATCCCTGATGGTCTT 0.468000 19 4 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322195 55322195 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:55322195C>T uc010rig.2 + 0 413 c.413C>T c.(412-414)tCc>tTc p.S138F NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA. 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S138F(2) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 ATTGTAGACTCCCTCTATGTG 0.488000 HNSCC(20;0.049) 64 14 0 0 1 0 0 PRDM7 11105 broad.mit.edu 37 16 90124822 90124822 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:90124822C>T uc010cje.3 - 9 1374 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K PRDM7_uc002fqo.3_Silent_p.K151K|PRDM7_uc010cjf.3_Silent_p.K240K NM_001098173 NP_001091643 Q9NQW5 PRDM7_HUMAN Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA. 452 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) GAGAAGTTTTCTTGCAGATGG 0.478000 76 5 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31595143 31595143 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:31595143C>T uc002rnv.1 - 16 1886 c.1807G>A c.(1807-1809)Gag>Aag p.E603K NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 603 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) AGAGACAGCTCATTCTCGTAG 0.647000 161 74 0 0 1 0 0 IL2RA 3559 broad.mit.edu 37 10 6061852 6061852 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:6061852G>A uc001iiz.2 - 4 855 c.636C>T c.(634-636)tcC>tcT p.S212S IL2RA_uc009xih.2_Silent_p.S140S|IL2RA_uc001ija.1_Intron NM_000417 NP_000408 P01589 IL2RA_HUMAN Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA. 212 cell proliferation integral to membrane interleukin-2 receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) TGACGAGGCAGGAAGTCTCAC 0.577000 53 12 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48142402 48142402 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:48142402C>T uc002efc.1 - 16 2666 c.2320G>A c.(2320-2322)Gaa>Aaa p.E774K ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript NM_033226 NP_150229 Q96J65 MRP9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA. 774 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) ACGGTTCCTTCCTGGGGGGAT 0.473000 74 6 0 0 1 0 0 ARPC1B 10095 broad.mit.edu 37 7 98984364 98984364 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:98984364A>G uc003upz.3 + 2 241 c.121A>G c.(121-123)Aaa>Gaa p.K41E ARPC1A_uc011kit.2_Non-coding_Transcript NM_005720 NP_005711 O15143 ARC1B_HUMAN Homo sapiens actin related protein 2/3 complex, subunit 1B, 41kDa (ARPC1B), mRNA. 41 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1) 11 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GAGCGGTGCCAAATGGACCAA 0.572000 99 17 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52534337 52534337 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:52534337G>A uc001vfw.2 - 6 2225 c.2068C>T c.(2068-2070)Cca>Tca p.P690S ATP7B_uc001vfy.2_Missense_Mutation_p.P579S|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Intron|ATP7B_uc010tgt.1_Missense_Mutation_p.P690S|ATP7B_uc010tgu.1_Missense_Mutation_p.P690S|ATP7B_uc010tgv.1_Missense_Mutation_p.P690S|ATP7B_uc001vfv.2_5'Flank|ATP7B_uc010tgs.1_Intron|ATP7B_uc010tgw.1_Intron NM_000053 NP_000044 P35670 ATP7B_HUMAN Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA. 690 P -> L (in WD). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) GACAGTCCTGGAATGATGTTG 0.483000 Wilson disease 50 10 0 0 1 0 0 RPLP0 6175 broad.mit.edu 37 12 120636466 120636466 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:120636466G>A uc001txp.3 - 5 779 c.542C>T c.(541-543)tCc>tTc p.S181F RPLP0_uc001txr.3_Intron|RPLP0_uc001txq.3_Missense_Mutation_p.S181F|RPLP0_uc021ret.1_5'Flank|LOC100506649_uc021reu.1_5'Flank NM_053275 NP_444505 P05388 RLA0_HUMAN Homo sapiens ribosomal protein, large, P0 (RPLP0), transcript variant 2, mRNA. 181 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus RNA binding|protein binding|structural constituent of ribosome p.I180S(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGAGAAGGGGGAGATGTTGAG 0.522000 53 5 0 0 1 0 0 DAPK2 23604 broad.mit.edu 37 15 64275842 64275842 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:64275842C>T uc002amr.3 - 2 235 c.204G>A c.(202-204)cgG>cgA p.R68R DAPK2_uc010uim.2_Non-coding_Transcript|DAPK2_uc010bgu.1_Silent_p.R58R NM_014326 NP_055141 Q9UIK4 DAPK2_HUMAN Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA. 68 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 11 LUAD - Lung adenocarcinoma(2;0.215) CGATCTCCTCCCGGCTCACAC 0.627000 51 18 0 0 1 0 0 HSDL1 83693 broad.mit.edu 37 16 84163235 84163235 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:84163235G>A uc002fhk.2 - 4 996 c.812C>T c.(811-813)tCg>tTg p.S271L HSDL1_uc010vnv.1_Missense_Mutation_p.S216L NM_031463 NP_113651 Q3SXM5 HSDL1_HUMAN Homo sapiens hydroxysteroid dehydrogenase like 1 (HSDL1), transcript variant 1, mRNA. 271 mitochondrion oxidoreductase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 GACTTTTGGCGAAGGCACCAA 0.468000 72 7 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44085891 44085891 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:44085891G>A uc001cjr.3 + 30 5578 c.5238_splice c.e30+1 p.R1746_splice PTPRF_uc001cjs.3_Splice_Site_p.R1737_splice|PTPRF_uc001cju.3_Splice_Site_p.R1135_splice|PTPRF_uc009vwt.3_Splice_Site_p.R1306_splice|PTPRF_uc001cjv.3_Splice_Site_p.R1217_splice|PTPRF_uc001cjw.3_Splice_Site_p.R972_splice NM_002840 NP_002831 P10586 PTPRF_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA. 1746 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGATGGGCAGGGTGAGCCCA 0.612000 135 7 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140754526 140754526 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140754526C>T uc003ljy.2 + 0 876 c.876C>T c.(874-876)ttC>ttT p.F292F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Silent_p.F292F NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 293 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACAAATTTTCTGTTTGAATG 0.448000 35 7 0 0 1 0 0 KIF17 57576 broad.mit.edu 37 1 21036145 21036145 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:21036145C>T uc001bdr.4 - 3 775 c.657G>A c.(655-657)gaG>gaA p.E219E KIF17_uc001bds.4_Silent_p.E219E NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA. 219 Kinesin-motor. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CGGCAGACATCTCGATGCTGA 0.602000 50 5 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5294866 5294866 + Silent SNP G A A rs149123899 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:5294866G>A uc010zqw.2 - 0 158 c.150C>T c.(148-150)ttC>ttT p.F50F PROKR2_uc010zqx.2_Silent_p.F50F|PROKR2_uc010zqy.2_Silent_p.F50F|AX746654_uc002wly.1_5'Flank NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN Homo sapiens prokineticin receptor 2 (PROKR2), mRNA. 50 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 TCTTGGCTGCGAAGAAGGTCC 0.517000 HNSCC(71;0.22) 90 6 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42489190 42489190 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:42489190G>A uc002osh.3 - 7 1027 c.873C>T c.(871-873)ttC>ttT p.F291F ATP1A3_uc010xwf.2_Silent_p.F302F|ATP1A3_uc010xwg.2_Silent_p.F261F|ATP1A3_uc002osg.3_Silent_p.F291F|ATP1A3_uc010xwh.2_Silent_p.F304F P13637 AT1A3_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA. 291 ATP biosynthetic process Golgi apparatus|endoplasmic reticulum ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 AGACACCCAGGAAGACAGCCA 0.587000 16 3 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19501790 19501790 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:19501790G>A uc002dgc.4 + 17 3396 c.2647G>A c.(2647-2649)Gac>Aac p.D883N TMC5_uc010vaq.2_Missense_Mutation_p.D831N|TMC5_uc002dgb.4_Intron|TMC5_uc010var.2_Missense_Mutation_p.D883N|TMC5_uc002dgd.1_Missense_Mutation_p.D637N|TMC5_uc002dge.4_Missense_Mutation_p.D637N|TMC5_uc002dgf.4_Missense_Mutation_p.D566N|TMC5_uc002dgg.4_Missense_Mutation_p.D524N NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 883 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CAGCTGGATCGACACCCTAAG 0.483000 160 13 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20975918 20975918 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:20975918C>T uc010vbe.2 - 52 9288 c.9288G>A c.(9286-9288)gaG>gaA p.E3096E DNAH3_uc010vbd.2_Silent_p.E531E NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 3096 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TATTCGCCTTCTCCATGTTCT 0.468000 101 7 0 0 1 0 0 MTRR 4552 broad.mit.edu 37 5 7891518 7891518 + Missense_Mutation SNP C T T rs137853062 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:7891518C>T uc003jed.3 + 9 1472 c.1442C>T c.(1441-1443)tCg>tTg p.S481L MTRR_uc003jee.4_Missense_Mutation_p.S454L|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA. 481 FAD-binding FR-type. methionine biosynthetic process cytosol FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) AGACCATATTCGTGTGCAAGG 0.294000 37 8 0 0 1 0 0 SERPINA9 327657 broad.mit.edu 37 14 94933482 94933482 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:94933482C>T uc001ydf.3 - 2 1081 c.920G>A c.(919-921)aGa>aAa p.R307K SERPINA9_uc001yde.3_Missense_Mutation_p.R207K|SERPINA9_uc010avc.3_Missense_Mutation_p.R158K|SERPINA9_uc001ydg.3_Missense_Mutation_p.R271K|SERPINA9_uc001ydh.1_Missense_Mutation_p.R307K|SERPINA9_uc001ydi.1_Missense_Mutation_p.R271K NM_175739 NP_783866 Q86WD7 SPA9_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA. 289 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) TCTCAGTGTTCTGGCTGACAA 0.537000 47 6 0 0 1 0 0 DHRS3 9249 broad.mit.edu 37 1 12628409 12628409 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12628409C>T uc001auc.3 - 5 1336 c.869G>A c.(868-870)gGa>gAa p.G290E DHRS3_uc001aub.3_Missense_Mutation_p.G205E NM_004753 NP_004744 O75911 DHRS3_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA. 290 retinol metabolic process|visual perception integral to membrane NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1) 9 Ovarian(185;0.249) Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) GGTGTAGGTTCCTGAGAATTT 0.537000 147 20 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19338712 19338712 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:19338712C>T uc002nlz.3 + 7 2382 c.2283C>T c.(2281-2283)ttC>ttT p.F761F NCAN_uc010ecc.1_Silent_p.F325F NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 761 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding p.F761F(2)|p.F775F(1) breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CTGGGGTCTTCGACACAGCAG 0.582000 74 20 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1645353 1645353 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:1645353C>T uc003wpl.3 + 10 2694 c.2597C>T c.(2596-2598)gCc>gTc p.A866V DLGAP2_uc003wpm.3_Missense_Mutation_p.A852V NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA. 945 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CAGGACCTGGCCGGCTACTGG 0.647000 39 5 0 0 1 0 0 PIH1D2 120379 broad.mit.edu 37 11 111941231 111941231 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:111941231G>A uc001pmp.4 - 4 965 c.742C>T c.(742-744)Ctg>Ttg p.L248L PIH1D2_uc009yyl.3_Silent_p.L248L|PIH1D2_uc010rws.1_Silent_p.L248L NM_138789 NP_620144 Q8WWB5 PIHD2_HUMAN Homo sapiens PIH1 domain containing 2 (PIH1D2), transcript variant 1, mRNA. 248 endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 11 all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508) TCAATTTTCAGAGGTTTCTCA 0.368000 67 4 0 0 1 0 0 DCD 117159 broad.mit.edu 37 12 55039483 55039483 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:55039483C>T uc001sgj.3 - 2 168 c.106G>A c.(106-108)Gaa>Aaa p.E36K DCD_uc009znt.3_Missense_Mutation_p.E36K|DCD_uc009znu.3_Non-coding_Transcript NM_053283 NP_444513 P81605 DCD_HUMAN Homo sapiens dermcidin (DCD), mRNA. 36 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular region protein binding large_intestine(2)|lung(2)|ovary(1)|skin(1) 6 Myeloproliferative disorder(1001;0.0255) GCTGATGCTTCATGGCAAGCT 0.527000 34 5 0 0 1 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48602350 48602350 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:48602350C>T uc010wmr.2 + 12 2039 c.1877C>T c.(1876-1878)aCc>aTc p.T626I MYCBPAP_uc002iqz.3_Non-coding_Transcript NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Homo sapiens MYCBP associated protein (MYCBPAP), mRNA. 589 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) GCCTATCTCACCGAGGAAGAC 0.647000 71 16 0 0 1 0 0 C6orf222 389384 broad.mit.edu 37 6 36298431 36298431 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:36298431C>T uc003oly.3 - 1 215 c.37G>A c.(37-39)Gag>Aag p.E13K NM_001010903 NP_001010903 P0C671 CF222_HUMAN Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA. 13 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 GCTTTCTTCTCCGCCAGGGGC 0.567000 67 4 0 0 1 0 0 PARP12 64761 broad.mit.edu 37 7 139724440 139724440 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:139724440G>A uc003vvl.1 - 11 2900 c.2026C>T c.(2026-2028)Cag>Tag p.Q676* PARP12_uc010lnf.1_Non-coding_Transcript NM_022750 NP_073587 Q9H0J9 PAR12_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA. 676 PARP catalytic. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) GTGGTGTACTGGATGACATAC 0.567000 43 16 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51742809 51742809 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:51742809G>A uc002pwa.2 + 6 1001 c.961G>A c.(961-963)Gaa>Aaa p.E321K CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.E194K|CD33_uc010eou.1_Non-coding_Transcript NM_001772 NP_001763 P20138 CD33_HUMAN Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA. 321 cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) TGGCCCCACTGAAACCTCAAG 0.522000 39 6 0 0 1 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306802 2306802 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:2306802G>A uc003gex.2 - 7 1585 c.1265C>T c.(1264-1266)cCa>cTa p.P422L ZFYVE28_uc011bvk.2_Missense_Mutation_p.P352L|ZFYVE28_uc011bvl.2_Missense_Mutation_p.P392L|ZFYVE28_uc003gew.2_Missense_Mutation_p.P308L NM_020972 NP_001166130 Q9HCC9 LST2_HUMAN Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA. 422 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 CCACCCAAATGGGCCAGCTGG 0.692000 59 6 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179568945 179568945 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:179568945C>T uc021vsy.1 - 102 26645 c.26420G>A c.(26419-26421)cGa>cAa p.R8807Q TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5468Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 9734 Ig-like 71. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCTTCTGCTCGAACATCTGC 0.428000 73 15 0 0 1 0 0 CXCR4 7852 broad.mit.edu 37 2 136872832 136872832 + Silent SNP G A A rs144569657 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:136872832G>A uc002tuz.3 - 1 761 c.666C>T c.(664-666)atC>atT p.I222I CXCR4_uc002tuy.3_Silent_p.I226I|CXCR4_uc010fnk.3_Silent_p.I207I NM_003467 NP_003458 P61073 CXCR4_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA. 222 activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) GCTTGGAGATGATAATGCAAT 0.517000 74 5 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77325334 77325334 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:77325334C>T uc002ffc.4 - 20 3650 c.3231G>A c.(3229-3231)atG>atA p.M1077I NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 1077 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CGCTGCACTTCATCTCCCTCT 0.483000 154 11 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718463 142718463 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:142718463G>A uc022cfm.1 - 0 462 c.462C>T c.(460-462)ctC>ctT p.L154L SLITRK4_uc022cfl.1_Silent_p.L154L|SLITRK4_uc004fbx.3_Silent_p.L154L|SLITRK4_uc004fby.3_Silent_p.L154L NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA. 154 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TCAGTTTGTGGAGCTTATTGA 0.398000 33 17 0 0 1 0 0 C10orf53 282966 broad.mit.edu 37 10 50901911 50901911 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:50901911C>T uc001jid.1 + 1 249 c.189C>T c.(187-189)ttC>ttT p.F63F CHAT_uc010qgs.1_3'UTR|C10orf53_uc001jib.3_Silent_p.F63F|C10orf53_uc001jic.1_Silent_p.F63F NM_182554 NP_872360 Q8N6V4 CJ053_HUMAN Homo sapiens chromosome 10 open reading frame 53 (C10orf53), transcript variant 1, mRNA. 63 endometrium(1)|lung(6) 7 all_neural(218;0.107) AAGTCATCTTCCACTGCAACA 0.473000 61 8 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11008787 11008787 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:11008787C>T uc010oao.2 - 11 1405 c.1405G>A c.(1405-1407)Gaa>Aaa p.E469K C1orf127_uc001ars.2_Missense_Mutation_p.E304K|C1orf127_uc001arr.2_Missense_Mutation_p.E312K NM_001170754 NP_001164225 B7ZLG7 B7ZLG7_HUMAN Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA. 320 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) ATCCCTGCTTCCCCTGGGGGA 0.647000 126 5 0 0 1 0 0 C2orf65 130951 broad.mit.edu 37 2 74803645 74803645 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:74803645G>A uc002smy.3 - 5 987 c.870C>T c.(868-870)ttC>ttT p.F290F C2orf65_uc010ysa.2_Silent_p.F290F|C2orf65_uc002smz.2_Silent_p.F290F|C2orf65_uc010ffp.3_Silent_p.F8F NM_138804 NP_620159 Q8TC57 CB065_HUMAN Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA. 290 RNA processing|chromatin assembly|female gamete generation|spermatogenesis integral to membrane endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 21 AGAGTGTGATGAAGTCTCCTT 0.517000 16 8 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92087097 92087097 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:92087097G>A uc001pdj.4 + 0 1836 c.1819G>A c.(1819-1821)Gaa>Aaa p.E607K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 607 Cadherin 6. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CGATATCGATGAACTTGAACT 0.388000 TCGA Ovarian(4;0.039) 69 5 0 0 1 0 0 GTPBP1 9567 broad.mit.edu 37 22 39120346 39120346 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:39120346C>T uc003awg.3 + 5 1157 c.1003C>T c.(1003-1005)Cgg>Tgg p.R335W NM_004286 NP_004277 O00178 GTPB1_HUMAN Homo sapiens GTP binding protein 1 (GTPBP1), mRNA. 335 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) ACCAGGCTGCCGGAAGATCCC 0.542000 68 5 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61558518 61558518 + Missense_Mutation SNP A G G rs141186617 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:61558518A>G uc002jau.2 + 5 948 c.914A>G c.(913-915)aAc>aGc p.N305S ACE_uc010wpi.2_Missense_Mutation_p.N305S|ACE_uc010ddu.2_Missense_Mutation_p.N122S NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 305 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GACAAGCCCAACCTCGATGTC 0.577000 91 9 0 0 1 0 0 WBSCR28 135886 broad.mit.edu 37 7 73279355 73279355 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:73279355C>T uc003tzk.2 + 1 141 c.105C>T c.(103-105)ttC>ttT p.F35F WBSCR28_uc003tzl.2_5'UTR NM_182504 NP_872310 Q6UE05 WBS28_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA. 35 integral to membrane breast(2)|kidney(2)|lung(6)|skin(1) 11 Lung NSC(55;0.159) TCTATAATTTCCTGCTCCTCA 0.567000 356 33 0 0 1 0 0 FAM173B 134145 broad.mit.edu 37 5 10239373 10239373 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:10239373A>G uc003jeo.2 - 1 141 c.112T>C c.(112-114)Ttc>Ctc p.F38L FAM173B_uc003jep.2_Non-coding_Transcript|FAM173B_uc010itr.2_Missense_Mutation_p.F38L NM_199133 NP_954584 Q6P4H8 F173B_HUMAN Homo sapiens family with sequence similarity 173, member B (FAM173B), mRNA. 38 integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 16 GTAAGTAAGAACCCCCAGTTG 0.478000 92 15 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86118489 86118489 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:86118489G>A uc002blv.1 + 5 960 c.790G>A c.(790-792)Gaa>Aaa p.E264K AKAP13_uc002blt.1_Missense_Mutation_p.E264K|AKAP13_uc002blu.1_Missense_Mutation_p.E264K NM_007200 NP_009131 Q12802 AKP13_HUMAN Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA. 264 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 TTCACATCATGAACACCCATT 0.388000 77 11 0 0 1 0 0 DCST2 127579 broad.mit.edu 37 1 154995717 154995717 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:154995717C>T uc001fgm.3 - 13 2061 c.1981G>A c.(1981-1983)Gag>Aag p.E661K DCST2_uc009wpb.3_Non-coding_Transcript NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA. 661 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGAGGGCCCTCCTCATCGCTG 0.592000 35 5 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37346335 37346335 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:37346335C>T uc001caz.2 - 2 585 c.450G>A c.(448-450)gtG>gtA p.V150V GRIK3_uc001cba.1_Silent_p.V150V NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 150 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GGTAGAGGTTCACGTAGAAGG 0.602000 90 24 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48698361 48698361 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:48698361G>A uc003cuf.1 - 2 1917 c.1917C>T c.(1915-1917)gcC>gcT p.A639A CELSR3_uc003cul.3_Silent_p.A569A NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 569 Cadherin 3. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCCGGTCAGTGGCCGTGACGC 0.602000 21 4 0 0 1 0 0 NMBR 4829 broad.mit.edu 37 6 142399932 142399932 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:142399932G>A uc003qiu.3 - 1 672 c.531C>T c.(529-531)ccC>ccT p.P177P NM_002511 NP_002502 P28336 NMBR_HUMAN Homo sapiens neuromedin B receptor (NMBR), mRNA. 177 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) ACACCGCTTCGGGAACTGCCA 0.517000 13 5 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71509081 71509081 + Missense_Mutation SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:71509081G>T uc011caw.1 + 8 2219 c.1938G>T c.(1936-1938)aaG>aaT p.K646N NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN Homo sapiens enamelin (ENAM), mRNA. 646 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CAGACCAGAAGGAGATAGTCC 0.443000 54 4 0.014758 0.0148672 1 1 0 CGNL1 84952 broad.mit.edu 37 15 57839673 57839673 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:57839673C>T uc010bfw.3 + 19 4087 c.3894C>T c.(3892-3894)gtC>gtT p.V1298V CGNL1_uc002aeg.3_Silent_p.V1298V|CGNL1_uc021smw.1_5'Flank NM_001252335 NP_001239264 Q0VF96 CGNL1_HUMAN Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA. 1298 Tail. myosin complex|tight junction motor activity p.V1298I(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) ACAGCACCGTCGCCAGCCAGA 0.592000 105 5 0 0 1 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21940554 21940554 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:21940554G>A uc001bev.3 - 4 338 c.320C>T c.(319-321)gCt>gTt p.A107V RAP1GAP_uc001bew.3_Missense_Mutation_p.A171V|RAP1GAP_uc001bey.3_Missense_Mutation_p.A107V|RAP1GAP_uc001bex.3_Missense_Mutation_p.A107V NM_001145657 NP_001139129 P47736 RPGP1_HUMAN Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA. 107 A -> T (in dbSNP:rs2275363). regulation of Ras GTPase activity|signal transduction Golgi membrane|cytosol|membrane fraction GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) GCCGAGGGCAGCGTCCAGTGA 0.597000 17 6 0 0 1 0 0 KRIT1 889 broad.mit.edu 37 7 91843226 91843226 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:91843226G>A uc003ulr.1 - 15 2690 c.1798C>T c.(1798-1800)Cgc>Tgc p.R600C KRIT1_uc010lev.1_Missense_Mutation_p.R357C|KRIT1_uc003ulq.1_Missense_Mutation_p.R600C|KRIT1_uc003uls.1_Missense_Mutation_p.R600C|KRIT1_uc003ult.1_Missense_Mutation_p.R552C|KRIT1_uc003ulu.1_Missense_Mutation_p.R600C|KRIT1_uc003ulv.1_Missense_Mutation_p.R600C NM_004912 NP_919438 O00522 KRIT1_HUMAN Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA. 600 FERM.|Required for RAP1A binding. angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity p.N599S(1) autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TGAAGTATGCGATTTGTCCAG 0.323000 56 4 0 0 1 0 0 AIPL1 23746 broad.mit.edu 37 17 6331771 6331771 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:6331771T>G uc002gcp.3 - 2 427 c.332A>C c.(331-333)aAg>aCg p.K111T AIPL1_uc021toq.1_Missense_Mutation_p.K72T|AIPL1_uc002gcq.3_Missense_Mutation_p.K51T|AIPL1_uc002gcr.3_Intron|AIPL1_uc010clk.3_Missense_Mutation_p.K89T|AIPL1_uc010cll.3_Missense_Mutation_p.K111T|AIPL1_uc021tor.1_Missense_Mutation_p.K111T|AIPL1_uc002gcs.3_Missense_Mutation_p.K111T NM_014336 NP_055151 Q9NZN9 AIPL1_HUMAN Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA. 111 PPIase FKBP-type. protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 12 COAD - Colon adenocarcinoma(228;0.141) TGTGGGGTCCTTGCCCTGGGC 0.637000 78 5 0 0 1 0 0 AGR3 155465 broad.mit.edu 37 7 16918164 16918164 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:16918164C>T uc003sts.3 - 1 152 c.79G>A c.(79-81)Gaa>Aaa p.E27K NM_176813 NP_789783 Q8TD06 AGR3_HUMAN Homo sapiens anterior gradient 3 homolog (Xenopus laevis) (AGR3), mRNA. 27 extracellular region central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1) 13 Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) GGCCTCTTTTCCTTTTTTATT 0.403000 48 10 0 0 1 0 0 MYLK2 85366 broad.mit.edu 37 20 30408108 30408109 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:30408108_30408109GG>AA uc002wwq.2 + 2 334_335 c.232_233GG>AA c.(232-234)gga>AAa p.G78K NM_033118 NP_149109 Q9H1R3 MYLK2_HUMAN Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA. 78 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGGCCCCAAAGGAGAGGGTGAC 0.668000 41 4 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234905099 234905099 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:234905099G>A uc002vvh.3 + 21 3109 c.3069G>A c.(3067-3069)atG>atA p.M1023I TRPM8_uc010fyj.3_Missense_Mutation_p.M601I|TRPM8_uc010fyk.3_Non-coding_Transcript NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA. 1023 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) ACTTCTACATGGTGGTGAAGA 0.493000 83 14 0 0 1 0 0 SLAMF9 89886 broad.mit.edu 37 1 159922126 159922126 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:159922126G>A uc001fus.3 - 2 707 c.590C>T c.(589-591)tCc>tTc p.S197F SLAMF9_uc009wtd.3_Intron|SLAMF9_uc001fut.3_Intron NM_033438 NP_254273 Q96A28 SLAF9_HUMAN Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA. 197 Ig-like C2-type. integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCAGGTGTAGGAGAGGGCACT 0.587000 73 13 0 0 1 0 0 IL12RB1 3594 broad.mit.edu 37 19 18193024 18193024 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:18193024G>A uc002nhx.1 - 3 346 c.295C>T c.(295-297)Cgt>Tgt p.R99C IL12RB1_uc002nhw.1_Missense_Mutation_p.R59C|IL12RB1_uc010xqb.1_Missense_Mutation_p.R59C|IL12RB1_uc002nhy.3_Missense_Mutation_p.R59C NM_005535 NP_005526 P42701 I12R1_HUMAN Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA. 59 Fibronectin type-III 1. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 CACTCGTAACGATCACTGGAT 0.592000 22 4 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237777484 237777484 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:237777484C>T uc001hyl.1 + 36 5176 c.5056C>T c.(5056-5058)Ctc>Ttc p.L1686F NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 1686 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACCTCAGCTCCTCTATGCCAT 0.552000 23 5 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98608764 98608764 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:98608764C>T uc003upp.3 + 69 11195 c.10986C>T c.(10984-10986)gcC>gcT p.A3662A TRRAP_uc011kis.2_Silent_p.A3633A|TRRAP_uc003upr.3_Silent_p.A3368A|TRRAP_uc003ups.3_5'Flank NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 3662 PI3K/PI4K. histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCCCCAATGCCACGGACTACT 0.552000 54 12 0 0 1 0 0 GPR110 266977 broad.mit.edu 37 6 46996740 46996740 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:46996740C>T uc003oyt.3 - 1 257 c.58G>A c.(58-60)Ggc>Agc p.G20S GPR110_uc011dwl.2_5'UTR|GPR110_uc003oyu.1_Missense_Mutation_p.G20S NM_153840 NP_722582 Q5T601 GP110_HUMAN Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA. 20 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 CCCAGGAAGCCACCGTGGCCG 0.512000 27 5 0 0 1 0 0 IDO1 3620 broad.mit.edu 37 8 39775688 39775688 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:39775688G>A uc003xnm.3 + 2 379 c.265G>A c.(265-267)Gca>Aca p.A89T NM_002164 NP_002155 P14902 I23O1_HUMAN Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA. 89 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) CATCACCATGGCATATGTGTG 0.413000 90 6 0 0 1 0 0 HIBADH 11112 broad.mit.edu 37 7 27669002 27669002 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:27669002G>A uc003szf.3 - 3 685 c.472C>T c.(472-474)Cct>Tct p.P158S HIBADH_uc003szg.3_Missense_Mutation_p.P109S|HIBADH_uc003szi.3_Missense_Mutation_p.P109S NM_152740 NP_689953 P31937 3HIDH_HUMAN Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA. 158 branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process mitochondrial matrix 3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1) 12 GBM - Glioblastoma multiforme(3;0.0368) NADH(DB00157) CCAGAAACAGGGGCATCCATG 0.363000 85 6 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223178531 223178531 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:223178531C>T uc001hnu.2 + 9 4118 c.3792C>T c.(3790-3792)ttC>ttT p.F1264F NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 1264 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TGTGTCACTTCTTCTCTCTGA 0.512000 431 58 0 0 1 0 0 CYP2A6 1548 broad.mit.edu 37 19 41352930 41352930 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:41352930C>T uc002opl.4 - 4 702 c.681G>A c.(679-681)atG>atA p.M227I CYP2A6_uc010ehe.1_Missense_Mutation_p.M23I|CYP2A6_uc010ehf.1_Non-coding_Transcript NM_000762 NP_000753 P11509 CP2A6_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA. 227 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) GCAGGTGTTTCATCACCGAAG 0.557000 88 12 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73748623 73748623 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:73748623C>T uc002jpg.3 + 31 4260 c.4073C>T c.(4072-4074)tCg>tTg p.S1358L ITGB4_uc002jph.3_Missense_Mutation_p.S1358L|ITGB4_uc002jpi.4_Missense_Mutation_p.S1358L|ITGB4_uc002jpj.3_Missense_Mutation_p.S1358L NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 1358 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CGCTCTCCATCGGGCAGCCAG 0.602000 129 16 0 0 1 0 0 TRIM31 11074 broad.mit.edu 37 6 30080278 30080278 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:30080278A>T uc003npg.1 - 1 415 c.305T>A c.(304-306)tTc>tAc p.F102Y TRIM31_uc003npi.3_Non-coding_Transcript NM_007028 NP_008959 Q9BZY9 TRI31_HUMAN Homo sapiens tripartite motif containing 31 (TRIM31), mRNA. 102 mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 GAAATAGTGGAACATCTCCTG 0.498000 101 8 0 0 1 0 0 C14orf39 317761 broad.mit.edu 37 14 60945082 60945082 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:60945082G>A uc001xez.4 - 4 369 c.259C>T c.(259-261)Cgt>Tgt p.R87C C14orf39_uc010apo.3_Intron NM_174978 NP_777638 Q08AQ4 Q08AQ4_HUMAN Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA. 87 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) TCATGTTTACGAAAAACATCA 0.269000 18 6 0 0 1 0 0 ANKRD2 26287 broad.mit.edu 37 10 99340684 99340684 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:99340684G>A uc001knw.3 + 4 819 c.610G>A c.(610-612)Ggg>Agg p.G204R ANKRD2_uc009xvu.3_Missense_Mutation_p.G204R NM_020349 NP_065082 Q9GZV1 ANKR2_HUMAN Homo sapiens ankyrin repeat domain 2 (stretch responsive muscle) (ANKRD2), transcript variant 1, mRNA. 204 muscle contraction|muscle organ development structural constituent of muscle breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1) 7 all_hematologic(284;1.95e-06)|Colorectal(252;0.0163) Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241) TCTAGATAATGGGGCCACTGT 0.592000 17 3 0 0 1 0 0 CA12 771 broad.mit.edu 37 15 63632593 63632593 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:63632593C>T uc002amc.3 - 6 797 c.641G>A c.(640-642)aGg>aAg p.R214K CA12_uc002amd.3_Missense_Mutation_p.R214K|CA12_uc002ame.3_Missense_Mutation_p.R154K NM_001218 NP_001209 O43570 CAH12_HUMAN Homo sapiens carbonic anhydrase XII (CA12), transcript variant 1, mRNA. 214 one-carbon metabolic process integral to membrane carbonate dehydratase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 16 Acetazolamide(DB00819) TTCAGCGGTCCTCTCCGGAAG 0.567000 36 14 0 0 1 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44260362 44260362 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:44260362G>A uc010xcy.1 - 7 1450 c.882C>T c.(880-882)tcC>tcT p.S294S ST8SIA5_uc002lci.1_Silent_p.S105S|ST8SIA5_uc002lcj.1_Silent_p.S258S|ST8SIA5_uc010xcz.1_Silent_p.S227S NM_013305 NP_037437 O15466 SIA8E_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA. 258 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 TGACGCGGATGGACACGTCGG 0.607000 29 3 0 0 1 0 0 FAM75C2 645961 broad.mit.edu 37 9 90746045 90746045 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:90746045G>A uc011lti.2 - 3 1936 c.1907C>T c.(1906-1908)tCc>tTc p.S636F NM_001166137 NP_001159609 B4DYI2 B4DYI2_HUMAN Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA. 636 CTCAAGGAAGGAAAGCACCTG 0.557000 174 16 0 0 1 0 0 OR5K3 403277 broad.mit.edu 37 3 98109980 98109980 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:98109980G>A uc011bgw.2 + 0 471 c.471G>A c.(469-471)atG>atA p.M157I NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA. 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P156S(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 TGCATCCCATGATTGAAGTAG 0.423000 24 4 0 0 1 0 0 RASIP1 54922 broad.mit.edu 37 19 49238556 49238556 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:49238556C>T uc002pki.3 - 3 1273 c.1076G>A c.(1075-1077)gGa>gAa p.G359E NM_017805 NP_060275 Q5U651 RAIN_HUMAN Homo sapiens Ras interacting protein 1 (RASIP1), mRNA. 359 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) GTCTGCAGTTCCGATTTGGGC 0.672000 35 6 0 0 1 0 0 FAM46C 54855 broad.mit.edu 37 1 118165957 118165957 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:118165957C>T uc021osq.1 + 0 467 c.467C>T c.(466-468)tCc>tTc p.S156F FAM46C_uc001ehe.3_Missense_Mutation_p.S156F NM_017709 NP_060179 Q5VWP2 FA46C_HUMAN Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA. 156 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) AGCCTGATCTCCCTCTCCAAC 0.502000 """Mis, F, O""" MM Multiple Myeloma(3;1.13e-06) 75 5 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47614387 47614387 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:47614387G>A uc001cqv.1 + 11 1529 c.1478G>A c.(1477-1479)cGa>cAa p.R493Q NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA. 493 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCCATGGCACGACTTGTGTTG 0.562000 68 20 0 0 1 0 0 DFFA 1676 broad.mit.edu 37 1 10523120 10523120 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:10523120A>T uc001arj.3 - 4 876 c.778T>A c.(778-780)Ttg>Atg p.L260M DFFA_uc001ark.3_Missense_Mutation_p.L260M NM_004401 NP_004392 O00273 DFFA_HUMAN Homo sapiens DNA fragmentation factor, 45kDa, alpha polypeptide (DFFA), transcript variant 1, mRNA. 260 DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis cytosol|mitochondrion|nucleoplasm|plasma membrane deoxyribonuclease activity|identical protein binding large_intestine(3)|lung(2) 5 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) CCCACCTCCAAATCCTGACTA 0.557000 77 8 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26423026 26423026 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:26423026G>A uc003abz.1 + 42 7336 c.7086G>A c.(7084-7086)ggG>ggA p.G2362G MYO18B_uc003aca.1_Silent_p.G2243G|MYO18B_uc010guy.1_Silent_p.G2244G|MYO18B_uc010guz.1_Silent_p.G2242G|MYO18B_uc011aka.1_Silent_p.G1516G|MYO18B_uc011akb.1_Silent_p.G1875G|MYO18B_uc010gva.1_Silent_p.G345G|MYO18B_uc010gvb.1_Non-coding_Transcript NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2362 nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CGAGCATGGGGAGAAAACTGA 0.582000 96 13 0 0 1 0 0 CTPS2 56474 broad.mit.edu 37 X 16608950 16608950 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:16608950G>A uc004cxk.3 - 17 2471 c.1727C>T c.(1726-1728)tCa>tTa p.S576L CTPS2_uc004cxl.3_Missense_Mutation_p.S576L|CTPS2_uc004cxm.3_Missense_Mutation_p.S576L NM_001144002 NP_787055 Q9NRF8 PYRG2_HUMAN Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA. 576 glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Hepatocellular(33;0.0997) CCTTGGCTCTGAAAAGCTGTC 0.378000 54 5 0 0 1 0 0 FAM45A 404636 broad.mit.edu 37 X 129629839 129629839 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:129629839G>A uc010nrh.3 + 0 925 c.707G>A c.(706-708)gGa>gAa p.G236E BC043223_uc004evu.3_Intron NM_207009 NP_996892 Q8TCE6 FA45A_HUMAN Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA. 236 breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 14 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) TACGTCGCTGGATTTGTAGAC 0.532000 46 8 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26965597 26965597 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:26965597G>A uc002hbu.3 - 11 1396 c.1293C>T c.(1291-1293)tcC>tcT p.S431S NM_014680 NP_055495 Q14667 K0100_HUMAN Homo sapiens KIAA0100 (KIAA0100), mRNA. 431 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) CAAGTTGAATGGAAATGTTGA 0.433000 93 5 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45724598 45724598 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:45724598G>A uc003tne.4 + 11 2022 c.2004G>A c.(2002-2004)acG>acA p.T668T NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 668 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) GGTGCCTGACGATTCAGATTC 0.433000 225 7 0 0 1 0 0 TGS1 96764 broad.mit.edu 37 8 56699001 56699001 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:56699001C>T uc003xsj.4 + 3 931 c.544C>T c.(544-546)Cct>Tct p.P182S TGS1_uc010lyh.3_Missense_Mutation_p.P86S NM_024831 NP_079107 Q96RS0 TGS1_HUMAN Homo sapiens trimethylguanosine synthase 1 (TGS1), mRNA. 182 RNA capping|cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) GACAGAAAATCCTCCAGTTGA 0.368000 16 3 0 0 1 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49667911 49667911 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:49667911C>T uc001jgu.3 - 4 820 c.523G>A c.(523-525)Gaa>Aaa p.E175K ARHGAP22_uc001jgs.3_Missense_Mutation_p.E69K|ARHGAP22_uc001jgt.3_Missense_Mutation_p.E159K|ARHGAP22_uc010qgl.2_Missense_Mutation_p.E116K|ARHGAP22_uc010qgm.2_Missense_Mutation_p.E165K|ARHGAP22_uc001jgv.3_5'UTR NM_021226 NP_067049 Q7Z5H3 RHG22_HUMAN Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA. 159 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TGGACTGTTTCCTCTAGGCGC 0.642000 37 8 0 0 1 0 0 ZNF230 7773 broad.mit.edu 37 19 44515279 44515279 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:44515279C>T uc002oyb.1 + 4 1339 c.1088C>T c.(1087-1089)cCa>cTa p.P363L NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN Homo sapiens zinc finger protein 230 (ZNF230), mRNA. 363 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) GGAGAAAAACCATACAGATGT 0.438000 36 8 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27475768 27475769 + Missense_Mutation DNP AG GA GA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:27475768_27475769AG>GA uc002dov.2 - 33 5784_5785 c.5744_5745CT>TC c.(5743-5745)gct>gTC p.A1915V GTF3C1_uc002dou.3_Missense_Mutation_p.A1915V NM_001520 NP_001511 Q12789 TF3C1_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA. 1915 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TGTCTTCAAGAGCTGGGGGTGG 0.653000 125 14 0 0 1 0 0 ZPBP2 124626 broad.mit.edu 37 17 38027073 38027073 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:38027073G>A uc002hte.3 + 3 397 c.244_splice c.e3+1 p.G82_splice ZPBP2_uc002htf.3_Splice_Site_p.G60_splice NM_199321 NP_955353 Q6X784 ZPBP2_HUMAN Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA. 82 binding of sperm to zona pellucida extracellular region kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) ACGTTAACAGGTAAATTTGAT 0.279000 28 5 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50475117 50475117 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:50475117G>A uc010ybk.1 + 2 148 c.42G>A c.(40-42)agG>agA p.R14R SIGLEC16_uc002prf.3_Intron Homo sapiens cDNA FLJ50062 complete cds, highly similar to Sialic acid-binding Ig-like lectin 11 precursor. endometrium(2)|kidney(2)|lung(6) 10 AAAACCTGAGGAACGGCACAT 0.662000 15 4 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8651448 8651448 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:8651448G>A uc002mkj.1 - 19 2671 c.2397C>T c.(2395-2397)atC>atT p.I799I ADAMTS10_uc002mki.1_Silent_p.I286I|ADAMTS10_uc002mkk.1_Silent_p.I431I NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 799 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 TTACCATGACGATGAGAGATG 0.597000 OREG0025221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 85 15 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47832323 47832323 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:47832323G>A uc003tny.2 - 55 8462 c.8428C>T c.(8428-8430)Cta>Tta p.L2810L C7orf69_uc003tnz.4_5'Flank|C7orf69_uc003toa.1_5'Flank NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 2810 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GGGAGTTGTAGGCTGTCGGAC 0.413000 62 4 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102500766 102500766 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:102500766C>T uc001yks.2 + 55 10895 c.10731C>T c.(10729-10731)gcC>gcT p.A3577A NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 3577 AAA 5 (By similarity). G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CAGAAAATGCCATCATGCTGA 0.483000 74 8 0 0 1 0 0 RPS6KA4 8986 broad.mit.edu 37 11 64138787 64138787 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:64138787C>T uc001oae.3 + 16 2237 c.2154C>T c.(2152-2154)ttC>ttT p.F718F RPS6KA4_uc001oad.3_Silent_p.F712F|RPS6KA4_uc010rnl.2_Silent_p.F655F|RPS6KA4_uc001oaf.3_Silent_p.F711F|RPS6KA4_uc009ypp.3_Silent_p.F470F NM_003942 NP_003933 O75676 KS6A4_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA. 718 axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1) 13 AGGGCTTCTTCCTGAAGAGCG 0.672000 156 10 0 0 1 0 0 DDN 23109 broad.mit.edu 37 12 49390679 49390679 + Silent SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:49390679G>T uc001rsv.1 - 1 1998 c.1980C>A c.(1978-1980)ccC>ccA p.P660P NM_015086 NP_055901 O94850 DEND_HUMAN Homo sapiens dendrin (DDN), mRNA. 660 Interaction with CD2AP and NPHS1 (By similarity). dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 TTCCAACCTCGGGCAGGGTCC 0.602000 OREG0021778 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 3 0.115264 0.115915 1 1 0 EGFLAM 133584 broad.mit.edu 37 5 38406258 38406258 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:38406258G>A uc003jlc.2 + 6 1089 c.743G>A c.(742-744)gGa>gAa p.G248E EGFLAM_uc003jlb.2_Missense_Mutation_p.G248E|EGFLAM_uc003jle.2_Missense_Mutation_p.G14E|EGFLAM_uc003jlf.2_Intron NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 248 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) GGCCGCTATGGACCCCGTTAT 0.478000 33 5 0 0 1 0 0 ASTL 431705 broad.mit.edu 37 2 96789835 96789835 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:96789835G>A uc010yui.2 - 8 1050 c.1050C>T c.(1048-1050)gcC>gcT p.A350A NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA. 350 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 GCTTTTTCAGGGCAGGGGACT 0.672000 123 15 0 0 1 0 0 MAGEE1 57692 broad.mit.edu 37 X 75650688 75650688 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:75650688C>T uc004ecm.2 + 0 2643 c.2365C>T c.(2365-2367)Cgt>Tgt p.R789C NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA. 789 Interaction with DTNA (By similarity).|MAGE 2. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane p.R789C(3) breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CCTCCTGAATCGTGCTGCCCG 0.473000 34 12 0 0 1 0 0 DMP1 1758 broad.mit.edu 37 4 88584106 88584106 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:88584106C>T uc003hqv.3 + 5 1280 c.1176C>T c.(1174-1176)ctC>ctT p.L392L DMP1_uc003hqw.3_Silent_p.L376L NM_004407 NP_004398 Q13316 DMP1_HUMAN Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA. 392 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) CGCACACACTCTCCCACTCAA 0.542000 77 10 0 0 1 0 0 FSCB 84075 broad.mit.edu 37 14 44975557 44975557 + Missense_Mutation SNP T A A rs140155770 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:44975557T>A uc001wvn.3 - 0 943 c.634A>T c.(634-636)Aat>Tat p.N212Y NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA. 212 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) CTGCTGATATTTTTCTGCCCA 0.403000 71 5 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60773203 60773203 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:60773203G>A uc002sae.1 - 1 516 c.288C>T c.(286-288)tcC>tcT p.S96S BCL11A_uc002sab.3_Silent_p.S96S|BCL11A_uc002sac.3_Silent_p.S96S|BCL11A_uc010ypi.2_5'UTR|BCL11A_uc010ypj.2_Silent_p.S96S|BCL11A_uc002saf.1_Silent_p.S96S|BCL11A_uc010fcg.3_Silent_p.S96S NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 96 Required for nuclear body formation and for SUMO1 recruitment (By similarity). negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CCACGGGATTGGATGCTTTTT 0.473000 T IGH@ B-CLL 417 214 0 0 1 0 0 NDRG4 65009 broad.mit.edu 37 16 58541874 58541874 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:58541874G>A uc002enm.3 + 11 1197 c.856G>A c.(856-858)Ggg>Agg p.G286R NDRG4_uc002enk.3_Missense_Mutation_p.G266R|NDRG4_uc010vif.2_Missense_Mutation_p.G266R|NDRG4_uc002eno.3_Missense_Mutation_p.G234R|NDRG4_uc010cdk.3_Missense_Mutation_p.G252R|NDRG4_uc010vig.2_Missense_Mutation_p.G264R|NDRG4_uc010vih.2_Missense_Mutation_p.G179R|NDRG4_uc010vii.2_Missense_Mutation_p.G252R|NDRG4_uc002enp.3_Missense_Mutation_p.G234R|NDRG4_uc002enq.1_Intron NM_001130487 NP_075061 Q9ULP0 NDRG4_HUMAN Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA. 234 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 GCTGGTGGTTGGGGATAATGC 0.667000 79 5 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42474955 42474955 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:42474955G>A uc002igw.2 - 7 4709 c.4490C>T c.(4489-4491)cCc>cTc p.P1497L GPATCH8_uc002igv.2_Missense_Mutation_p.P1419L|GPATCH8_uc010wiz.2_Missense_Mutation_p.P1419L NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA. 1497 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) ATGGCTGGGGGGATGTTGCAG 0.587000 34 8 0 0 1 0 0 EXOC3L4 91828 broad.mit.edu 37 14 103566731 103566731 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:103566731C>T uc001ymk.3 + 0 251 c.175C>T c.(175-177)Cgg>Tgg p.R59W NM_001077594 NP_001071062 Q17RC7 EX3L4_HUMAN Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA. 59 cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 GGCCTTCTCCCGGGCCAGCCA 0.657000 13 3 0 0 1 0 0 ZNF705A 440077 broad.mit.edu 37 12 8329814 8329814 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:8329814G>A uc001qud.1 + 4 610 c.538G>A c.(538-540)Gcc>Acc p.A180T FAM66C_uc001que.4_5'Flank|FAM66C_uc001quf.4_5'Flank|FAM66C_uc009zgc.3_5'Flank|FAM66C_uc001qug.3_5'Flank NM_001004328 NP_001004328 Q6ZN79 Z705A_HUMAN Homo sapiens zinc finger protein 705A (ZNF705A), mRNA. 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4) 18 Kidney(36;0.0877) ATGTGAAAAGGCCTATACTAA 0.388000 110 8 0 0 1 0 0 CASK 8573 broad.mit.edu 37 X 41414861 41414861 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:41414861C>T uc004dfk.4 - 14 1405 c.1279G>A c.(1279-1281)Gga>Aga p.G427R CASK_uc004dfj.4_Missense_Mutation_p.G152R|CASK_uc004dfl.4_Missense_Mutation_p.G612R|CASK_uc004dfm.4_Missense_Mutation_p.G589R|CASK_uc004dfn.4_Missense_Mutation_p.G583R NM_003688 NP_003679 O14936 CSKP_HUMAN Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA. 612 L27 2. cell adhesion actin cytoskeleton|cytoplasm|nucleus|plasma membrane ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1) 32 ACCTGTCGTCCTTTTGGTTGG 0.358000 4 4 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595678 140595678 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140595678C>T uc003lja.1 + 0 2170 c.1983C>T c.(1981-1983)ctC>ctT p.L661L NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN Homo sapiens protocadherin beta 13 (PCDHB13), mRNA. 661 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCACGTGCTCCTGGTGGACG 0.711000 82 8 0 0 1 0 0 SULT2A1 6822 broad.mit.edu 37 19 48378081 48378081 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:48378081C>T uc002phr.2 - 4 718 c.578G>A c.(577-579)aGa>aAa p.R193K NM_003167 NP_003158 Q06520 ST2A1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA. 193 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) CTCTATGGTTCTTCCTGTGTC 0.443000 29 10 0 0 1 0 0 SLC38A10 124565 broad.mit.edu 37 17 79219714 79219714 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:79219714G>A uc002jzz.1 - 15 3377 c.3002C>T c.(3001-3003)cCg>cTg p.P1001L SLC38A10_uc002jzy.1_Missense_Mutation_p.P919L|SLC38A10_uc021uey.1_Missense_Mutation_p.P76L NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA. 1001 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CCCGCCTCTCGGCTGCTCGTG 0.697000 58 8 0 0 1 0 0 SGMS1 259230 broad.mit.edu 37 10 52103372 52103372 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:52103372G>A uc001jje.3 - 6 1457 c.503C>T c.(502-504)cCa>cTa p.P168L SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.P168L|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.P168L|SGMS1_uc021pqo.1_Missense_Mutation_p.P168L|SGMS1_uc021pqp.1_Non-coding_Transcript NM_147156 NP_671512 Q86VZ5 SMS1_HUMAN Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA. 174 P -> L (in Ref. 3; AAQ82051). apoptosis|cell growth|sphingomyelin biosynthetic process Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 GTCCGGTAGTGGAGGCTGCAC 0.458000 23 4 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41572498 41572498 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:41572498C>T uc003xok.3 - 14 1781 c.1697G>A c.(1696-1698)gGa>gAa p.G566E NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.G566E|ANK1_uc003xoj.3_Missense_Mutation_p.G566E|ANK1_uc003xol.3_Missense_Mutation_p.G566E|ANK1_uc003xom.3_Missense_Mutation_p.G599E NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 566 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ACTCACTTTTCCGGCAGCATT 0.587000 48 7 0 0 1 0 0 UBE2L6 9246 broad.mit.edu 37 11 57322016 57322016 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:57322016G>A uc001nkn.2 - 2 300 c.204C>T c.(202-204)atC>atT p.I68I UBE2L6_uc001nko.2_Silent_p.I2I NM_004223 NP_937826 O14933 UB2L6_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2L 6 (UBE2L6), transcript variant 1, mRNA. 68 negative regulation of type I interferon production cytosol protein binding|ubiquitin-protein ligase activity large_intestine(1)|lung(3)|ovary(1) 5 TTGTGAATTTGATCATGGGAG 0.537000 160 14 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113436179 113436179 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:113436179G>A uc001tuj.3 + 4 1112 c.972G>A c.(970-972)ctG>ctA p.L324L OAS2_uc001tui.1_Silent_p.L324L NM_016817 NP_058197 P29728 OAS2_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA. 324 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|RNA binding|nucleotidyltransferase activity NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CTCCCAACCTGGATAATGAGT 0.453000 68 4 0 0 1 0 0 CD300LB 124599 broad.mit.edu 37 17 72519788 72519788 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:72519788C>T uc002jkx.2 - 2 497 c.484G>A c.(484-486)Gga>Aga p.G162R CD300LB_uc010wqz.1_Missense_Mutation_p.G162R NM_174892 NP_777552 A8K4G0 CLM7_HUMAN Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA. 125 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1) 21 GAAGCCGCTCCCTCTAGACAC 0.552000 56 7 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140579977 140579977 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140579977C>T uc003liy.3 + 0 630 c.630C>T c.(628-630)ttC>ttT p.F210F NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN Homo sapiens protocadherin beta 11 (PCDHB11), mRNA. 210 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCTCAGTTTCATCCTCTCTG 0.493000 34 8 0 0 1 0 0 TMEM63B 55362 broad.mit.edu 37 6 44102477 44102477 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:44102477C>T uc003owr.3 + 1 220 c.156C>T c.(154-156)ttC>ttT p.F52F TMEM63B_uc003owq.1_Silent_p.F52F|TMEM63B_uc010jyy.1_5'UTR|TMEM63B_uc003ows.3_5'Flank NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN Homo sapiens transmembrane protein 63B (TMEM63B), mRNA. 52 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) TCATGTGCTTCCTTGTAAGTG 0.612000 88 11 0 0 1 0 0 CD1A 909 broad.mit.edu 37 1 158225033 158225033 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:158225033G>A uc001frt.3 + 1 751 c.218G>A c.(217-219)gGa>gAa p.G73E CD1A_uc021pbk.1_5'Flank NM_001763 NP_001754 P06126 CD1A_HUMAN Homo sapiens CD1a molecule (CD1A), mRNA. 73 antigen processing and presentation|immune response MHC class I protein complex|endosome membrane|integral to plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) TGGTCCAGGGGAAACTTCAGC 0.483000 60 18 0 0 1 0 0 SEMA3G 56920 broad.mit.edu 37 3 52475386 52475386 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:52475386G>A uc003dea.1 - 6 707 c.707C>T c.(706-708)tCt>tTt p.S236F NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA. 236 Sema. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) GTCCTGGTCAGAGTTCTCAGG 0.627000 41 5 0 0 1 0 0 DOLPP1 57171 broad.mit.edu 37 9 131847573 131847573 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:131847573T>A uc004bxc.3 + 3 378 c.350T>A c.(349-351)tTc>tAc p.F117Y DOLPP1_uc004bxd.3_Missense_Mutation_p.F117Y|DOLPP1_uc004bxe.3_Non-coding_Transcript NM_020438 NP_065171 Q86YN1 DOPP1_HUMAN Homo sapiens dolichyl pyrophosphate phosphatase 1 (DOLPP1), transcript variant 1, mRNA. 117 dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane dolichyldiphosphatase activity endometrium(3)|kidney(2)|lung(7)|skin(1) 13 TCCTTCCTTTTCCTGTATTTA 0.562000 99 7 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129714239 129714239 + Missense_Mutation SNP C T T rs145126760 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:129714239C>T uc021zfb.1 + 36 5389 c.5284C>T c.(5284-5286)Cgg>Tgg p.R1762W LAMA2_uc003qbn.3_Missense_Mutation_p.R1762W|LAMA2_uc003qbo.3_Missense_Mutation_p.R1762W NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 1762 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGGAGAGTCCCGGGGGGAAAA 0.468000 9 4 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61749456 61749456 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:61749456C>T uc003xue.3 + 16 4562 c.4070C>T c.(4069-4071)tCt>tTt p.S1357F CHD7_uc022aux.1_Intron NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA. 1357 Helicase C-terminal. T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent nucleus ATP binding|DNA binding|chromatin binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AAACCTGATTCTGATAGGTTT 0.478000 74 8 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138671281 138671281 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:138671281G>A uc011mdq.2 + 23 2880 c.2806G>A c.(2806-2808)Gac>Aac p.D936N KCNT1_uc011mdr.2_Missense_Mutation_p.D763N|KCNT1_uc010nbf.3_Missense_Mutation_p.D891N|KCNT1_uc004cgo.1_Missense_Mutation_p.D685N NM_020822 NP_065873 B7ZVY4 B7ZVY4_HUMAN Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA. 936 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CCGCGCCAAGGACAGCTACTC 0.617000 87 11 0 0 1 0 0 REG1P 5969 broad.mit.edu 37 2 79363980 79363980 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:79363980G>A uc002soa.1 - 3 c.334C>T REG1P_uc002sob.1_Non-coding_Transcript|REG1P_uc002soc.1_Non-coding_Transcript Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds. TTTAATCAGCGAAGCCACAAA 0.512000 26 5 0 0 1 0 0 PFKFB4 5210 broad.mit.edu 37 3 48563046 48563046 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:48563046G>A uc003ctv.3 - 9 1061 c.1044C>T c.(1042-1044)ttC>ttT p.F348F PFKFB4_uc003ctx.3_Silent_p.F305F|PFKFB4_uc010hkb.3_Silent_p.F341F|PFKFB4_uc003ctw.3_Silent_p.F157F|PFKFB4_uc010hkc.3_Intron|PFKFB4_uc011bbm.2_Silent_p.F337F|PFKFB4_uc011bbn.1_Non-coding_Transcript NM_004567 NP_004558 Q16877 F264_HUMAN Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA. 348 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) CCCGCAGGGCGAACTCCAGTG 0.562000 38 4 0 0 1 0 0 STRC 161497 broad.mit.edu 37 15 43896246 43896246 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:43896246C>T uc001zsf.3 - 21 4401 c.4323G>A c.(4321-4323)aaG>aaA p.K1441K STRC_uc010bdl.3_Silent_p.K668K|STRC_uc001zse.3_5'UTR NM_153700 NP_714544 Q7RTU9 STRC_HUMAN Homo sapiens stereocilin (STRC), mRNA. 1441 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) GGGCTGCTTTCTTGGCAGCAA 0.557000 22 5 0 0 1 0 0 SPANXN3 139067 broad.mit.edu 37 X 142596789 142596789 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:142596789C>T uc004fbw.3 - 1 369 c.281G>A c.(280-282)gGa>gAa p.G94E NM_001009609 NP_001009609 Q5MJ09 SPXN3_HUMAN Homo sapiens SPANX family, member N3 (SPANXN3), mRNA. 94 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) ATTTGAAGATCCTTCAGATAA 0.433000 16 6 0 0 1 0 0 GPAT2 150763 broad.mit.edu 37 2 96690336 96690336 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:96690336C>T uc002svf.3 - 14 1731 c.1508G>A c.(1507-1509)aGc>aAc p.S503N GPAT2_uc002sve.3_Missense_Mutation_p.S305N|GPAT2_uc002svd.3_Missense_Mutation_p.S322N|GPAT2_uc002svg.3_Missense_Mutation_p.S382N|GPAT2_uc010yuh.2_Missense_Mutation_p.S432N|GPAT2_uc002svh.3_Missense_Mutation_p.S503N NM_207328 NP_997211 Q6NUI2 GPAT2_HUMAN Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA. 503 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 CTGCAGCAGGCTCCGCAGCTG 0.657000 48 20 0 0 1 0 0 ARHGEF16 27237 broad.mit.edu 37 1 3395127 3395127 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:3395127C>T uc001akg.4 + 11 2013 c.1765C>T c.(1765-1767)Cgc>Tgc p.R589C ARHGEF16_uc001aki.3_Missense_Mutation_p.R301C|ARHGEF16_uc001akj.3_Missense_Mutation_p.R301C|ARHGEF16_uc010nzh.2_Missense_Mutation_p.R293C NM_014448 NP_055263 Q5VV41 ARHGG_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA. 589 PH. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GACCCTGCTTCGCAACAGCGA 0.672000 39 9 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74630352 74630352 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:74630352G>A uc002axt.2 - 8 1682 c.1527C>T c.(1525-1527)ttC>ttT p.F509F CYP11A1_uc002axs.2_Silent_p.F351F|CYP11A1_uc010bjm.1_Silent_p.F351F|CYP11A1_uc010bjn.1_Non-coding_Transcript NM_000781 NP_001093243 P05108 CP11A_HUMAN Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 509 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) GCCAGAAGGTGAAGGAGATGG 0.547000 62 22 0 0 1 0 0 RBM26 64062 broad.mit.edu 37 13 79946063 79946063 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:79946063G>A uc001vkz.2 - 3 344 c.330C>T c.(328-330)atC>atT p.I110I RBM26_uc001vky.2_Silent_p.I110I|RBM26_uc001vla.2_Silent_p.I110I|RBM26_uc001vkx.2_5'Flank|RBM26_uc001vlb.1_5'Flank NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN Homo sapiens RNA binding motif protein 26 (RBM26), mRNA. 110 mRNA processing RNA binding|nucleotide binding|protein binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) CCTCCTTAGTGATCTGATTAA 0.398000 19 4 0 0 1 0 0 MAPK15 225689 broad.mit.edu 37 8 144803199 144803199 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:144803199G>A uc003yzj.3 + 9 988 c.947G>A c.(946-948)cGa>cAa p.R316Q NM_139021 NP_620590 Q8TD08 MK15_HUMAN Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA. 316 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GAGTGGGCACGAGAGGCAGAT 0.697000 18 4 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151155194 151155194 + Missense_Mutation SNP A C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:151155194A>C uc011bod.2 - 5 7155 c.7155T>G c.(7153-7155)agT>agG p.S2385R IGSF10_uc011bob.2_Missense_Mutation_p.S412R|IGSF10_uc011boc.2_Missense_Mutation_p.S364R NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA. 2385 Ig-like C2-type 10. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GATACTGATAACTTTGTGGTC 0.403000 52 6 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6692060 6692060 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:6692060T>A uc001qpo.3 - 27 4354 c.4190A>T c.(4189-4191)gAt>gTt p.D1397V CHD4_uc001qpn.3_Missense_Mutation_p.D1390V|CHD4_uc001qpp.3_Missense_Mutation_p.D1422V|AK096395_uc001qpq.1_Missense_Mutation_p.I88N|SCARNA11_uc001qpr.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA. 1397 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CAATGGCTTATCTTTATCATT 0.458000 109 14 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143956537 143956537 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:143956537G>A uc010mey.3 - 9 1454 c.1447C>T c.(1447-1449)Cgc>Tgc p.R483C CYP11B1_uc010mex.3_Missense_Mutation_p.R111C|CYP11B1_uc003yxh.3_Intron|CYP11B1_uc003yxi.3_Missense_Mutation_p.R412C|CYP11B1_uc003yxj.3_Intron NM_000497 NP_000488 P15538 C11B1_HUMAN Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 412 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity p.R412C(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GCGGGGTTGCGACCCAGAGAG 0.627000 Familial Hyperaldosteronism type I 86 7 0 0 1 0 0 ZNF226 7769 broad.mit.edu 37 19 44679805 44679805 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:44679805C>T uc002oys.3 + 5 570 c.390C>T c.(388-390)ttC>ttT p.F130F ZNF226_uc002oyp.3_Silent_p.F130F|ZNF226_uc002oyq.3_Silent_p.F13F|ZNF226_uc002oyr.3_Silent_p.F13F|ZNF226_uc002oyt.3_Silent_p.F130F NM_001032372 NP_001027545 Q9NYT6 ZN226_HUMAN Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA. 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) AAGGTGATTTCCCTTACCAGG 0.383000 32 4 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49394988 49394988 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:49394988G>A uc021wxw.1 - 1 525 c.445C>T c.(445-447)Ctc>Ttc p.L149F GPX1_uc021wxx.1_3'UTR NM_000581 NP_000572 P07203 GPX1_HUMAN Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA. 149 UV protection|anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion cytosol|mitochondrion SH3 domain binding|endopeptidase inhibitor activity|glutathione peroxidase activity breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CAGGTGATGAGCTTGGGGTCG 0.662000 52 4 0 0 1 0 0 DUXA 503835 broad.mit.edu 37 19 57666741 57666742 + Splice_Site DNP CT AC AC TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:57666741_57666742CT>AC uc002qoa.1 - 5 484 c.439_splice c.e5-1 p.I147_splice NM_001012729 NP_001012747 A6NLW8 DUXA_HUMAN Homo sapiens double homeobox A (DUXA), mRNA. 147 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.?(1) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) GGAACCAAATCTAAGTGGTAAG 0.376000 32 6 0 0 1 0 0 ZNF704 619279 broad.mit.edu 37 8 81733756 81733756 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:81733756G>A uc003yby.2 - 1 306 c.74C>T c.(73-75)tCc>tTc p.S25F NM_001033723 NP_001028895 Q6ZNC4 ZN704_HUMAN Homo sapiens zinc finger protein 704 (ZNF704), mRNA. 25 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) CATGGCCAAGGAAAACACGTG 0.453000 111 22 0 0 1 0 0 AATK 9625 broad.mit.edu 37 17 79094044 79094044 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:79094044G>A uc010dia.3 - 10 3772 c.3692C>T c.(3691-3693)gCc>gTc p.A1231V AATK_uc010dhz.3_Non-coding_Transcript|AATK_uc021ueu.1_Missense_Mutation_p.A1128V NM_001080395 NP_001073864 Q6ZMQ8 LMTK1_HUMAN Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA. 1231 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GAAGGACACGGCCTTCTTCTT 0.677000 35 4 0 0 1 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119936933 119936933 + Missense_Mutation SNP G A A rs145316984 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:119936933G>A uc003yon.4 - 4 1209 c.886C>T c.(886-888)Cgt>Tgt p.R296C NM_002546 NP_002537 O00300 TR11B_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA. 296 Death 2. apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) ATCAAGCTACGAAGCTGCTCG 0.463000 31 6 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115389428 115389428 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:115389428C>T uc001lal.3 - 18 2123 c.1959G>A c.(1957-1959)agG>agA p.R653R NRAP_uc009xyb.3_5'Flank|NRAP_uc001laj.3_Silent_p.R653R|NRAP_uc001lak.3_Silent_p.R618R NM_198060 NP_932326 Q86VF7 NRAP_HUMAN Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA. 653 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GCAGTTTCTTCCTGTAGTCCA 0.507000 51 4 0 0 1 0 0 NPHP4 261734 broad.mit.edu 37 1 5964857 5964857 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:5964857G>A uc001alq.2 - 15 2231 c.1963C>T c.(1963-1965)Cag>Tag p.Q655* NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript|NPHP4_uc009vlu.2_Non-coding_Transcript NM_015102 NP_055917 O75161 NPHP4_HUMAN Homo sapiens nephronophthisis 4 (NPHP4), mRNA. 655 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) CGGCAGTCCTGGGCCACTCTG 0.547000 60 15 0 0 1 0 0 OR3A3 8392 broad.mit.edu 37 17 3324817 3324817 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:3324817C>T uc010vrd.2 + 0 956 c.956C>T c.(955-957)tCa>tTa p.S319L NM_012373 NP_036505 P47888 OR3A3_HUMAN Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA. 319 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1) 9 GGGAAGCGATCACTGACCTGA 0.453000 52 14 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24798270 24798270 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:24798270G>A uc001wow.3 - 9 1940 c.1521C>T c.(1519-1521)ctC>ctT p.L507L ADCY4_uc010toh.2_Silent_p.L193L|ADCY4_uc001wox.3_Silent_p.L507L|ADCY4_uc001woy.3_Silent_p.L507L NM_001198568 NP_001185497 Q8NFM4 ADCY4_HUMAN Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA. 507 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane ATP binding|adenylate cyclase activity|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) CACATACCGGGAGAGGGGTGG 0.622000 86 6 0 0 1 0 0 FAM105B 90268 broad.mit.edu 37 5 14690314 14690314 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:14690314C>T uc003jfk.3 + 5 913 c.761C>T c.(760-762)cCa>cTa p.P254L NM_138348 NP_612357 Q96BN8 F105B_HUMAN Homo sapiens family with sequence similarity 105, member B (FAM105B), mRNA. 254 breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 14 Lung NSC(4;0.00696) AAGGAAGTACCATTTTTCTCT 0.428000 37 6 0 0 1 0 0 PARP12 64761 broad.mit.edu 37 7 139756882 139756882 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:139756882G>A uc003vvl.1 - 2 1408 c.534C>T c.(532-534)ctC>ctT p.L178L PARP12_uc010lnf.1_Non-coding_Transcript NM_022750 NP_073587 Q9H0J9 PAR12_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA. 178 nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) GGCAGATATGGAGCTTGATGC 0.433000 98 7 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166187934 166187934 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:166187934G>A uc002udc.3 + 13 2534 c.2244G>A c.(2242-2244)gtG>gtA p.V748V SCN2A_uc002udd.3_Silent_p.V748V|SCN2A_uc002ude.3_Silent_p.V748V NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 748 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GGTTAAAGGTGAAACACCTTG 0.413000 39 7 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187542656 187542656 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:187542656G>A uc003izf.3 - 9 5272 c.5084C>T c.(5083-5085)tCa>tTa p.S1695L NM_005245 NP_005236 Q14517 FAT1_HUMAN Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA. 1695 Cadherin 15. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CACCACTGATGATTGACTATG 0.388000 HNSCC(5;0.00058) 56 9 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10710777 10710777 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:10710777G>A uc001aro.3 - 12 3172 c.2852C>T c.(2851-2853)tCa>tTa p.S951L CASZ1_uc001arp.1_Missense_Mutation_p.S951L NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA. 951 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) TAAAAGAGATGAATTTGCCGG 0.562000 153 13 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36779589 36779589 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:36779589C>T uc003cgi.2 - 1 1053 c.562G>A c.(562-564)Gag>Aag p.E188K NM_033403 NP_208382 Q9C098 DCLK3_HUMAN Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA. 188 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 GGATTTGCCTCGGGAGACCTC 0.582000 72 6 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38985036 38985036 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:38985036C>T uc002oit.3 + 38 6449 c.6319C>T c.(6319-6321)Caa>Taa p.Q2107* RYR1_uc002oiu.3_Nonsense_Mutation_p.Q2107*|RYR1_uc002oiv.1_5'Flank NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 2107 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCGCTGGGCCCAAGAGGACTT 0.672000 29 9 0 0 1 0 0 THADA 63892 broad.mit.edu 37 2 43520130 43520131 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:43520130_43520131GG>AA uc002rsw.4 - 31 5012_5013 c.4660_4661CC>TT c.(4660-4662)cct>TTt p.P1554F THADA_uc010far.3_Missense_Mutation_p.P749F|THADA_uc002rsx.4_Missense_Mutation_p.P1554F|THADA_uc002rsy.4_Non-coding_Transcript NM_001083953 NP_071348 Q6YHU6 THADA_HUMAN Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA. 1554 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) GCGCACTTCAGGGAAGGCAGAT 0.559000 429 24 0 0 1 0 0 SLC13A3 64849 broad.mit.edu 37 20 45217842 45217842 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:45217842G>A uc002xsf.2 - 6 1013 c.973C>T c.(973-975)Cga>Tga p.R325* SLC13A3_uc010ghn.2_Nonsense_Mutation_p.R294*|SLC13A3_uc010zxx.2_Nonsense_Mutation_p.R227*|SLC13A3_uc010zxw.2_Nonsense_Mutation_p.R275*|SLC13A3_uc002xsg.2_Nonsense_Mutation_p.R278*|SLC13A3_uc010gho.2_Nonsense_Mutation_p.R278* NM_022829 NP_073740 Q8WWT9 S13A3_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA. 325 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) ATTACAGCTCGAGCCCTATCT 0.483000 106 6 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8651442 8651442 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:8651442C>T uc002mkj.1 - 20 2677 c.2403_splice c.e20+1 p.M801_splice ADAMTS10_uc002mki.1_Splice_Site_p.M288_splice|ADAMTS10_uc002mkk.1_Splice_Site_p.M433_splice NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 801 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 TCCCTGTTACCATGACGATGA 0.597000 OREG0025221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 97 8 0 0 1 0 0 TAF15 8148 broad.mit.edu 37 17 34171515 34171515 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:34171515C>T uc002hkd.3 + 14 1298 c.1212C>T c.(1210-1212)ggC>ggT p.G404G TAF15_uc002hkc.3_Silent_p.G401G NM_139215 NP_631961 Q92804 RBP56_HUMAN Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA. 404 Arg/Gly-rich. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding TAF15/NR4A3(33) lung(1)|ovary(1)|skin(2)|stomach(1) 5 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GAGAGAGGGGCTACAGAGGTC 0.572000 T """TEC, CHN1, ZNF384""" """extraskeletal myxoid chondrosarcomas, ALL""" 100 9 0 0 1 0 0 KRT33A 3883 broad.mit.edu 37 17 39503339 39503339 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39503339C>T uc002hwk.1 - 3 761 c.724G>A c.(724-726)Gaa>Aaa p.E242K NM_004138 NP_004129 O76009 KT33A_HUMAN Homo sapiens keratin 33A (KRT33A), mRNA. 242 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) TGCTCCACTTCCCTGCGGTTG 0.627000 47 7 0 0 1 0 0 CYP2E1 1571 broad.mit.edu 37 10 135340950 135340950 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:135340950C>T uc001lnj.1 + 0 84 c.51C>T c.(49-51)ctC>ctT p.L17L CYP2E1_uc001lnk.1_5'UTR|CYP2E1_uc009ybl.1_5'UTR|CYP2E1_uc009ybm.1_5'UTR NM_000773 NP_000764 P05181 CP2E1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA. 17 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) CGGCCTTCCTCCTGCTGGTGT 0.642000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 83 9 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189526224 189526224 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:189526224C>T uc003fry.2 + 3 577 c.488C>T c.(487-489)cCc>cTc p.P163L TP63_uc003frx.2_Missense_Mutation_p.P163L|TP63_uc003frz.2_Missense_Mutation_p.P163L|TP63_uc010hzc.1_Missense_Mutation_p.P163L|TP63_uc003fsa.2_Missense_Mutation_p.P69L|TP63_uc003fsb.2_Missense_Mutation_p.P69L|TP63_uc003fsc.2_Missense_Mutation_p.P69L|TP63_uc003fsd.2_Missense_Mutation_p.P69L|TP63_uc021xir.1_Missense_Mutation_p.P69L|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.P44L NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 163 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TCTCCATCACCCGCCATCCCC 0.632000 HNSCC(45;0.13) 30 4 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90124979 90124979 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:90124979G>A uc003kju.3 + 76 16683 c.16587G>A c.(16585-16587)atG>atA p.M5529I GPR98_uc003kjt.3_Missense_Mutation_p.M3235I|GPR98_uc003kjw.3_Missense_Mutation_p.M1190I NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 5529 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CAGGACTAATGATGTCTGTTA 0.423000 52 12 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75227750 75227750 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:75227750G>A uc003yae.3 - 1 525 c.485C>T c.(484-486)tCg>tTg p.S162L JPH1_uc003yaf.3_Missense_Mutation_p.S162L|JPH1_uc003yag.1_Missense_Mutation_p.S26L NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN Homo sapiens junctophilin 1 (JPH1), mRNA. 162 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) CGAGGCCAGCGAGGTACGCAG 0.731000 31 5 0 0 1 0 0 THEG 51298 broad.mit.edu 37 19 375767 375767 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:375767C>A uc002lol.3 - 0 247 c.204G>T c.(202-204)gaG>gaT p.E68D THEG_uc002lom.3_Missense_Mutation_p.E68D NM_016585 NP_057669 Q9P2T0 THEG_HUMAN Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA. 68 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCCGGCCACCTCCTCGGGGG 0.602000 97 22 6.44725e-10 6.53762e-10 1 1 0 RHCE 6006 broad.mit.edu 37 1 25747182 25747182 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:25747182G>A uc001bkf.3 - 0 182 c.96C>T c.(94-96)acC>acT p.T32T RHCE_uc001bkg.3_Silent_p.T32T|RHCE_uc001bkh.3_Silent_p.T32T|RHCE_uc001bki.3_Silent_p.T32T|RHCE_uc001bkj.3_Intron NM_020485 NP_065231 P18577 RHCE_HUMAN Homo sapiens Rh blood group, CcEe antigens (RHCE), transcript variant 1, mRNA. 32 integral to plasma membrane endometrium(8)|large_intestine(6)|lung(3) 17 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) CGTCATAGTGGGTAAAAAAAT 0.532000 192 14 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56370475 56370475 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:56370475C>T uc002qmd.4 + 2 2138 c.1716C>T c.(1714-1716)ctC>ctT p.L572L NLRP4_uc002qmf.3_Silent_p.L497L|NLRP4_uc010etf.3_Silent_p.L403L NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 572 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CAGTGAACCTCCTCCAAGAAG 0.468000 49 4 0 0 1 0 0 OR51A4 401666 broad.mit.edu 37 11 4968016 4968016 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:4968016G>A uc010qys.2 - 0 315 c.315C>T c.(313-315)ttC>ttT p.F105F NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA. 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCCATGAATGAAGAATTCCT 0.443000 76 5 0 0 1 0 0 YARS 8565 broad.mit.edu 37 1 33245804 33245804 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:33245804G>A uc001bvy.1 - 10 2004 c.1216C>T c.(1216-1218)Ctg>Ttg p.L406L YARS_uc001bvw.1_Silent_p.L66L|YARS_uc001bvx.1_Silent_p.L57L NM_003680 NP_003671 P54577 SYYC_HUMAN Homo sapiens tyrosyl-tRNA synthetase (YARS), mRNA. 406 tRNA-binding. apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) AACTGTACCAGGCCGCTCACC 0.577000 196 11 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129238473 129238473 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:129238473C>T uc003eml.3 + 29 3893 c.3687C>T c.(3685-3687)cgC>cgT p.R1229R IFT122_uc003emm.3_Silent_p.R1178R|IFT122_uc003emn.3_Silent_p.R1119R|IFT122_uc003emo.3_Silent_p.R1068R|IFT122_uc003emp.3_Silent_p.R1028R|IFT122_uc010htc.3_Silent_p.R1171R|IFT122_uc011bky.2_Silent_p.R969R|IFT122_uc011bla.2_Silent_p.R952R|IFT122_uc003emr.3_Silent_p.R931R|IFT122_uc010hte.3_Silent_p.R504R|IFT122_uc003ems.3_Silent_p.R560R NM_052985 NP_443711 Q9HBG6 IF122_HUMAN Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA. 1178 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 CCATGAGCCGCCGGGATGTCC 0.642000 47 8 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5396314 5396314 + Silent SNP C T T rs148045283 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:5396314C>T uc002kmt.1 - 18 2945 c.2859G>A c.(2857-2859)acG>acA p.T953T EPB41L3_uc010wzh.1_Silent_p.T784T|EPB41L3_uc002kmu.1_Silent_p.T731T|EPB41L3_uc010dkq.1_Silent_p.T622T|EPB41L3_uc002kms.1_Silent_p.T188T|EPB41L3_uc010wze.1_Silent_p.T258T|EPB41L3_uc010wzf.1_Silent_p.T250T|EPB41L3_uc010wzg.1_Silent_p.T225T|EPB41L3_uc010dkr.2_Silent_p.T345T NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA. 953 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity p.K952M(1) breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 TGATGGTTTCCGTCTTCACCG 0.453000 60 10 0 0 1 0 0 LZTS2 84445 broad.mit.edu 37 10 102763433 102763433 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:102763433C>T uc001ksj.3 + 2 748 c.578C>T c.(577-579)tCc>tTc p.S193F LZTS2_uc010qpw.2_Missense_Mutation_p.S193F|LZTS2_uc001ksk.3_Missense_Mutation_p.S193F|LZTS2_uc001ksl.3_Missense_Mutation_p.S193F|LZTS2_uc001ksm.3_Non-coding_Transcript NM_032429 NP_115805 Q9BRK4 LZTS2_HUMAN Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA. 193 Required for centrosomal localization (By similarity).|Ser-rich. Wnt receptor signaling pathway|cell division|mitosis membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) tcctcctcttcctcctcctct 0.642000 157 33 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150839663 150839663 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:150839663C>T uc004fev.4 + 11 1557 c.1225C>T c.(1225-1227)Ctt>Ttt p.L409F NM_173493 NP_775764 Q8IV76 PASD1_HUMAN Homo sapiens PAS domain containing 1 (PASD1), mRNA. 409 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) GATGGATCACCTTCAGGTCAG 0.463000 29 13 0 0 1 0 0 CLASRP 11129 broad.mit.edu 37 19 45567819 45567819 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:45567819C>T uc002pak.3 + 12 1438 c.1340C>T c.(1339-1341)tCc>tTc p.S447F CLASRP_uc002pal.3_Non-coding_Transcript|CLASRP_uc010xxh.2_Missense_Mutation_p.S385F|CLASRP_uc002pam.3_Missense_Mutation_p.S447F NM_007056 NP_008987 Q8N2M8 CLASR_HUMAN Homo sapiens CLK4-associating serine/arginine rich protein (CLASRP), mRNA. 447 Arg-rich.|Ser-rich. RNA splicing|mRNA processing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 GGTGGGGGCTCCCGAGACGGA 0.761000 19 5 0 0 1 0 0 CDCA7 83879 broad.mit.edu 37 2 174228591 174228591 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:174228591C>T uc002uic.1 + 4 798 c.667C>T c.(667-669)Cgt>Tgt p.R223C CDCA7_uc002uid.1_Missense_Mutation_p.R144C|CDCA7_uc010zej.1_Missense_Mutation_p.R179C|CDCA7_uc010zek.1_Missense_Mutation_p.R102C NM_031942 NP_114148 Q9BWT1 CDCA7_HUMAN Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA. 144 regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) TGGCTCGTTCCGTGGAAGACA 0.418000 173 8 0 0 1 0 0 DGCR14 8220 broad.mit.edu 37 22 19130257 19130258 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:19130257_19130258GG>AA uc002zou.3 - 1 322_323 c.285_286CC>TT c.(283-288)tcccgg>tcTTgg p.R96W NM_022719 NP_073210 Q96DF8 DGC14_HUMAN Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA. 96 nervous system development catalytic step 2 spliceosome breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 16 Colorectal(54;0.0993) GGGGGCTCCCGGGACATCTTGC 0.584000 133 10 0 0 1 0 0 DDX46 9879 broad.mit.edu 37 5 134121243 134121243 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:134121243C>T uc003kzw.3 + 10 1599 c.1431C>T c.(1429-1431)gtC>gtT p.V477V DDX46_uc003kzv.1_Non-coding_Transcript NM_014829 NP_055644 Q7L014 DDX46_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA. 477 Helicase ATP-binding. RNA splicing|mRNA processing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTAGAGTGGTCTGTGTTTACG 0.368000 57 4 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 80328081 80328081 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:80328081G>A uc001xun.3 + 16 3451 c.2960G>A c.(2959-2961)gGg>gAg p.G987E NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Missense_Mutation_p.G563E|NRXN3_uc010asw.3_Missense_Mutation_p.G385E|NRXN3_uc001xur.4_Missense_Mutation_p.G358E NM_004796 NP_004787 Q9HDB5 NRX3B_HUMAN Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA. 563 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) AGCACAACAGGGATGGTCGTC 0.602000 25 6 0 0 1 0 0 OPN1MW 2652 broad.mit.edu 37 X 153490621 153490621 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:153490621C>T uc004fkd.3 + 1 439 c.357C>T c.(355-357)ttC>ttT p.F119F NM_000513 NP_001041646 P04001 OPSG_HUMAN Homo sapiens opsin 1 (cone pigments), medium-wave-sensitive (OPN1MW), mRNA. 119 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|lung(1) 2 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ATGGCTACTTCGTGCTGGGCC 0.607000 71 8 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525236 248525236 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:248525236C>T uc001ieh.1 + 0 354 c.354C>T c.(352-354)gtC>gtT p.V118V NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA. 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q117K(2) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGGACCAGGTCATGGGTGTGA 0.498000 61 6 0 0 1 0 0 FOXN1 8456 broad.mit.edu 37 17 26862034 26862034 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:26862034G>A uc010crm.3 + 7 1643 c.1445G>A c.(1444-1446)cGg>cAg p.R482Q FOXN1_uc002hbj.3_Missense_Mutation_p.R482Q NM_003593 NP_003584 O15353 FOXN1_HUMAN Homo sapiens forkhead box N1 (FOXN1), mRNA. 482 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) CTTGAGCTGCGGGCCCAGCCA 0.677000 48 11 0 0 1 0 0 C3orf24 115795 broad.mit.edu 37 3 10146351 10146351 + Silent SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:10146351G>T uc003buz.3 - 1 333 c.108C>A c.(106-108)tcC>tcA p.S36S C3orf24_uc003bva.2_Silent_p.S36S|C3orf24_uc021wsy.1_Silent_p.S36S NM_173472 NP_775743 Q96PS1 CC024_HUMAN Homo sapiens chromosome 3 open reading frame 24 (C3orf24), transcript variant 1, mRNA. 36 endometrium(1)|large_intestine(2)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(96;0.196) GGAAGCAGGGGGAGGCCTTGA 0.562000 77 5 4.096e-09 4.15159e-09 1 1 0 MAST1 22983 broad.mit.edu 37 19 12980016 12980016 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:12980016C>T uc002mvm.3 + 21 3038 c.2910C>T c.(2908-2910)atC>atT p.I970I NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA. 970 PDZ. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CCATCACCATCCAGCGCTCGG 0.582000 56 7 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150921921 150921921 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:150921921C>T uc003lue.4 - 8 8780 c.8767G>A c.(8767-8769)Gaa>Aaa p.E2923K NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 2923 Cadherin 26. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCCACCAGTTCGCCAGGCTCA 0.512000 85 16 0 0 1 0 0 GPLD1 2822 broad.mit.edu 37 6 24433449 24433449 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:24433449C>T uc003ned.1 - 23 2513 c.2402G>A c.(2401-2403)gGg>gAg p.G801E NM_001503 NP_001494 P80108 PHLD_HUMAN Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA. 801 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 GAGGGAGCTCCCAAACCTTGA 0.448000 85 8 0 0 1 0 0 EPB42 2038 broad.mit.edu 37 15 43501608 43501608 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:43501608C>T uc001zrb.4 - 5 1086 c.786G>A c.(784-786)caG>caA p.Q262Q EPB42_uc001zqz.4_5'UTR|EPB42_uc001zra.4_Silent_p.Q232Q|EPB42_uc010udm.2_Silent_p.Q154Q NM_000119 NP_000110 P16452 EPB42_HUMAN Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA. 232 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) TGGCCTGGGTCTGCGGGGTGG 0.632000 64 4 0 0 1 0 0 CD6 923 broad.mit.edu 37 11 60777262 60777262 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:60777262G>A uc001nqq.3 + 4 1225 c.1000G>A c.(1000-1002)Gag>Aag p.E334K CD6_uc009yni.3_Intron|CD6_uc009ynj.3_Intron|CD6_uc001nqp.3_Missense_Mutation_p.E334K|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.E334K|CD6_uc001nqt.3_Missense_Mutation_p.E334K NM_006725 NP_006716 P30203 CD6_HUMAN Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA. 334 SRCR 3. cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 CAATGGGGAGGAGCTCACCCT 0.617000 39 8 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65491243 65491243 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:65491243C>T uc002aon.2 - 8 1562 c.1381G>A c.(1381-1383)Gag>Aag p.E461K NM_003613 NP_003604 O75339 CILP1_HUMAN Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA. 461 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 TCCCTTTCCTCTGTCTTGGAG 0.592000 38 12 0 0 1 0 0 FAM217A 222826 broad.mit.edu 37 6 4069751 4069751 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:4069751C>T uc003mvx.3 - 6 1112 c.706G>A c.(706-708)Gaa>Aaa p.E236K FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Missense_Mutation_p.E173K NM_173563 NP_775834 Q8IXS0 CF146_HUMAN Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA. 236 GTGAAAGGTTCCTCAACATTT 0.378000 67 13 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065029 9065029 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9065029G>A uc002mkp.3 - 2 22621 c.22417C>T c.(22417-22419)Cct>Tct p.P7473S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7475 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTGAGAAAGGATGAATTTTC 0.473000 39 4 0 0 1 0 0 ZNF45 7596 broad.mit.edu 37 19 44418876 44418876 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:44418876G>A uc002oxu.2 - 3 811 c.712C>T c.(712-714)Cat>Tat p.H238Y ZNF45_uc002oxw.2_Missense_Mutation_p.H238Y NM_003425 NP_003416 Q02386 ZNF45_HUMAN Homo sapiens zinc finger protein 45 (ZNF45), mRNA. 238 multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 ACTCTCTGATGATGGGGAAGA 0.428000 76 10 0 0 1 0 0 SPAG5 10615 broad.mit.edu 37 17 26906832 26906832 + Silent SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:26906832A>G uc002hbq.3 - 16 2913 c.2821T>C c.(2821-2823)Ttg>Ctg p.L941L ALDOC_uc002hbp.3_5'Flank NM_006461 NP_006452 Q96R06 SPAG5_HUMAN Homo sapiens sperm associated antigen 5 (SPAG5), mRNA. 941 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) CTTCCAAGCAAGGGCACAGGA 0.527000 108 23 0 0 1 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87151823 87151823 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:87151823C>T uc003ydp.1 + 2 509 c.440C>T c.(439-441)cCt>cTt p.P147L NM_152565 NP_689778 Q8N8Y2 VA0D2_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA. 147 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 GCAGAGACACCTTCAGATCTC 0.413000 23 9 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138713690 138713690 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:138713690G>A uc004cgr.4 - 10 2817 c.2817C>T c.(2815-2817)taC>taT p.Y939Y CAMSAP1_uc004cgq.4_Silent_p.Y829Y|CAMSAP1_uc010nbg.3_Silent_p.Y661Y NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA. 939 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) TGTGCTGAGAGTACTCCTTTG 0.597000 154 14 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7586077 7586077 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:7586077C>T uc003mxp.1 + 23 8861 c.8582C>T c.(8581-8583)tCc>tTc p.S2861F DSP_uc003mxq.1_Missense_Mutation_p.S2262F|DSP_uc021yle.1_Missense_Mutation_p.S2418F NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2861 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TACTCTTATTCCTACTCATTT 0.483000 117 29 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47991122 47991122 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:47991122C>T uc002xur.1 - 1 1141 c.975G>A c.(973-975)cgG>cgA p.R325R KCNB1_uc002xus.1_Silent_p.R325R NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 325 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TGTAGCTCCTCCGCAAAGTGA 0.542000 28 4 0 0 1 0 0 SH2D5 400745 broad.mit.edu 37 1 21048471 21048471 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:21048471G>A uc009vpy.1 - 9 1588 c.1086C>T c.(1084-1086)ttC>ttT p.F362F SH2D5_uc001bdt.1_Silent_p.F278F|SH2D5_uc001bdu.1_Non-coding_Transcript NM_001103161 NP_001096630 Q6ZV89 SH2D5_HUMAN Homo sapiens SH2 domain containing 5 (SH2D5), transcript variant 1, mRNA. 278 lung(4)|prostate(1)|upper_aerodigestive_tract(1) 6 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCAGGCTGGGGAACTCTGCCG 0.662000 26 6 0 0 1 0 0 USP5 8078 broad.mit.edu 37 12 6973921 6973921 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:6973921C>T uc001qri.4 + 17 2339 c.2280C>T c.(2278-2280)ttC>ttT p.F760F USP5_uc001qrh.4_Silent_p.F737F|TPI1_uc001qrk.3_5'Flank NM_001098536 NP_001092006 P45974 UBP5_HUMAN Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA. 760 UBA 2. positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2) 36 ACTGGATCTTCAGTCACATTG 0.527000 59 6 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071744 9071744 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9071744G>A uc002mkp.3 - 2 15906 c.15702C>T c.(15700-15702)tcC>tcT p.S5234S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5236 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTCTGGGGTGGAAATTTTGC 0.478000 42 10 0 0 1 0 0 LYPD4 147719 broad.mit.edu 37 19 42342118 42342118 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:42342118C>T uc002orp.1 - 3 1413 c.429G>A c.(427-429)ccG>ccA p.P143P LYPD4_uc002orq.1_Silent_p.P108P NM_173506 NP_775777 Q6UWN0 LYPD4_HUMAN Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA. 143 UPAR/Ly6. anchored to membrane|plasma membrane breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2) 12 CCACACAGGTCGGGCAGCTAC 0.493000 58 5 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767827 31767827 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:31767827G>A uc002nsy.4 - 1 2937 c.2872C>T c.(2872-2874)Cga>Tga p.R958* NM_020856 NP_065907 Q63HK5 TSH3_HUMAN Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA. 958 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CCTGTCCTTCGAAGCTGGTAT 0.542000 35 6 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579077 55579077 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:55579077G>A uc001nhw.1 + 0 135 c.135G>A c.(133-135)atG>atA p.M45I NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA. 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M45I(4) NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) ACCTGGGCATGATTGCACTGA 0.488000 102 9 0 0 1 0 0 CCBE1 147372 broad.mit.edu 37 18 57115291 57115291 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:57115291G>A uc002lib.3 - 6 769 c.699C>T c.(697-699)atC>atT p.I233I CCBE1_uc010dpq.3_Missense_Mutation_p.S9L|CCBE1_uc002lia.3_Silent_p.I86I NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA. 233 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) TGTCACCAGTGATATACTTGC 0.597000 56 6 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3319706 3319706 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:3319706C>T uc003ggw.3 + 1 2713 c.1809C>T c.(1807-1809)tcC>tcT p.S603S RGS12_uc003ggu.2_Silent_p.S603S|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Silent_p.S603S|RGS12_uc003ggx.1_Silent_p.S603S NM_198229 NP_937872 O14924 RGS12_HUMAN Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA. 603 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGGAGTGGTCCAGGAAGGCCT 0.577000 149 8 0 0 1 0 0 SLC17A9 63910 broad.mit.edu 37 20 61595591 61595591 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:61595591C>T uc002yea.4 + 7 1018 c.834C>T c.(832-834)ttC>ttT p.F278F SLC17A9_uc002ydz.4_Silent_p.F272F|SLC17A9_uc011aap.1_Silent_p.F298F NM_022082 NP_071365 Q9BYT1 S17A9_HUMAN Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA. 278 exocytosis|transmembrane transport integral to membrane transporter activity endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 GCTGGATCTTCAACGTGGTTC 0.622000 298 28 0 0 1 0 0 UQCR10 29796 broad.mit.edu 37 22 30163512 30163512 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:30163512C>T uc003agq.1 + 0 155 c.125C>T c.(124-126)gCt>gTt p.A42V ZMAT5_uc003agm.3_5'Flank|ZMAT5_uc003agn.3_5'Flank|ZMAT5_uc003ago.1_5'Flank|UQCR10_uc003agp.1_Missense_Mutation_p.A42V|UQCR10_uc021wns.1_Missense_Mutation_p.A42V NM_013387 NP_037519 Q9UDW1 QCR9_HUMAN Homo sapiens ubiquinol-cytochrome c reductase, complex III subunit X (UQCR10), transcript variant 1, mRNA. 42 mitochondrial electron transport, ubiquinol to cytochrome c mitochondrial inner membrane|respiratory chain ubiquinol-cytochrome-c reductase activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1) 5 GGCGCGGACGCTATCTACGAC 0.607000 39 8 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651029 84651029 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:84651029C>T uc002bjz.4 + 20 2873 c.2649C>T c.(2647-2649)atC>atT p.I883I ADAMTSL3_uc010bmt.1_Silent_p.I883I NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 883 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TTGGAGAAATCAAATCAGAGA 0.373000 25 8 0 0 1 0 0 NUP133 55746 broad.mit.edu 37 1 229613413 229613413 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:229613413G>A uc001htn.3 - 12 1779 c.1687C>T c.(1687-1689)Caa>Taa p.Q563* NM_018230 NP_060700 Q8WUM0 NU133_HUMAN Homo sapiens nucleoporin 133kDa (NUP133), mRNA. 563 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|condensed chromosome kinetochore|cytosol nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) ACACTGATTTGGGTAACTGCC 0.453000 30 7 0 0 1 0 0 PARP12 64761 broad.mit.edu 37 7 139756822 139756822 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:139756822G>A uc003vvl.1 - 2 1468 c.594C>T c.(592-594)tcC>tcT p.S198S PARP12_uc010lnf.1_Non-coding_Transcript NM_022750 NP_073587 Q9H0J9 PAR12_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA. 198 nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) AGAAATCATGGGATCTCTTAC 0.448000 87 15 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55349192 55349192 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55349192G>A uc002qhm.1 + 2 278 c.232G>A c.(232-234)Gat>Aat p.D78N KIR3DL2_uc010yfj.2_Missense_Mutation_p.D71N|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.D78N|KIR3DL2_uc002qhn.1_Missense_Mutation_p.D25N NM_012314 NP_036446 P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA. 173 Ig-like C2-type 1. cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) AGAGCACCATGATGGGGTTTC 0.498000 159 13 0 0 1 0 0 FBLN5 10516 broad.mit.edu 37 14 92361396 92361396 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:92361396C>T uc010aue.3 - 5 996 c.523G>A c.(523-525)Gat>Aat p.D175N FBLN5_uc010aud.3_Missense_Mutation_p.D139N|FBLN5_uc001xzx.4_Missense_Mutation_p.D134N NM_006329 NP_006320 Q9UBX5 FBLN5_HUMAN Homo sapiens fibulin 5 (FBLN5), mRNA. 134 EGF-like 3; calcium-binding (Potential). cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) TGGTGGGAATCTGTTGCACAC 0.537000 54 9 0 0 1 0 0 FZR1 51343 broad.mit.edu 37 19 3526983 3526983 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:3526983C>T uc010dtk.2 + 4 427 c.393C>T c.(391-393)tcC>tcT p.S131S FZR1_uc002lxt.2_Silent_p.S131S|FZR1_uc002lxv.2_Intron NM_001136198 NP_001129670 Q9UM11 FZR_HUMAN Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA. 131 DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm protein binding endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) CACAGTATTCCCTTAGCACCA 0.657000 61 7 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11222211 11222211 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:11222211C>T uc002mqk.4 + 7 1269 c.1082C>T c.(1081-1083)cCc>cTc p.P361L LDLR_uc010xlk.2_Missense_Mutation_p.P361L|LDLR_uc010xll.2_Missense_Mutation_p.P320L|LDLR_uc021upc.1_Missense_Mutation_p.P240L|LDLR_uc010xln.2_Missense_Mutation_p.P234L|LDLR_uc010xlo.2_Missense_Mutation_p.P193L|LDLR_uc010xlm.2_Missense_Mutation_p.P214L|LDLR_uc021upd.1_Missense_Mutation_p.P98L NM_000527 NP_000518 P01130 LDLR_HUMAN Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA. 361 EGF-like 2; calcium-binding (Potential). cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) TGTCAGGATCCCGACACCTGC 0.597000 246 60 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28739452 28739453 + Missense_Mutation DNP AG CT CT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:28739452_28739453AG>CT uc002kwn.3 - 1 365_366 c.103_104CT>AG c.(103-105)ctt>AGt p.L35S DSC1_uc002kwm.3_Missense_Mutation_p.L35S NM_024421 NP_077739 Q08554 DSC1_HUMAN Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. 35 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) AGGAACTCGAAGATAAACTTTC 0.332000 30 4 0 0 1 0 0 HSPB3 8988 broad.mit.edu 37 5 53751877 53751877 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:53751877C>T uc003jph.2 + 0 447 c.258C>T c.(256-258)atC>atT p.I86I NM_006308 NP_006299 Q12988 HSPB3_HUMAN Homo sapiens heat shock 27kDa protein 3 (HSPB3), mRNA. 86 cell death|response to heat|response to unfolded protein cytoplasm|nucleus breast(1)|large_intestine(4)|prostate(3) 8 Lung NSC(810;0.00104) AAGACATCATCATTCAGACCT 0.527000 40 8 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1246001 1246001 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:1246001C>T uc002cks.3 + 4 869 c.621C>T c.(619-621)ctC>ctT p.L207L CACNA1H_uc002ckt.3_Silent_p.L207L NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 207 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TGCGGCCCCTCCGCGCCATCA 0.662000 61 6 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156873738 156873738 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:156873738C>T uc001fqj.1 + 1 136 c.20C>T c.(19-21)cCc>cTc p.P7L PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA. 7 integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCTCTGTGTCCCCTCCTTCTC 0.642000 137 21 0 0 1 0 0 CD101 9398 broad.mit.edu 37 1 117564584 117564584 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:117564584G>A uc010oxb.1 + 6 2465 c.2407G>A c.(2407-2409)Gaa>Aaa p.E803K CD101_uc009whd.3_Missense_Mutation_p.E803K|CD101_uc010oxc.1_Missense_Mutation_p.E803K|CD101_uc010oxd.1_Missense_Mutation_p.E741K NM_004258 NP_004249 Q93033 IGSF2_HUMAN Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA. 803 cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides p.E803*(2) NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AGGACTAACAGAATTGAAACT 0.483000 28 8 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40069012 40069012 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:40069012G>A uc003ayc.3 + 27 4708 c.4708G>A c.(4708-4710)Gag>Aag p.E1570K CACNA1I_uc003ayd.3_Missense_Mutation_p.E1535K|CACNA1I_uc003aye.3_Missense_Mutation_p.E1485K|CACNA1I_uc003ayf.3_Missense_Mutation_p.E1450K NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 1570 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CACCCTGGAGGAGATCGAGAT 0.612000 77 15 0 0 1 0 0 ASCC2 84164 broad.mit.edu 37 22 30202864 30202864 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:30202864G>A uc003agr.3 - 9 1082 c.938C>T c.(937-939)tCc>tTc p.S313F ASCC2_uc011akr.2_Missense_Mutation_p.S237F|ASCC2_uc003ags.3_Non-coding_Transcript NM_032204 NP_115580 Q9H1I8 ASCC2_HUMAN Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA. 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) CCTGGAATGGGAGAGCCTCTG 0.512000 39 5 0 0 1 0 0 CPNE5 57699 broad.mit.edu 37 6 36767781 36767781 + Missense_Mutation SNP A C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:36767781A>C uc003omr.1 - 3 317 c.250T>G c.(250-252)Tac>Gac p.Y84D CPNE5_uc003oms.1_Missense_Mutation_p.Y46D NM_020939 NP_065990 Q9HCH3 CPNE5_HUMAN Homo sapiens copine V (CPNE5), mRNA. 84 C2 1. central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 TCGAAAAAGTAATCCACAATG 0.522000 36 6 0 0 1 0 0 SYT16 83851 broad.mit.edu 37 14 62536422 62536422 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:62536422C>T uc001xfu.1 + 1 822 c.625C>T c.(625-627)Cgt>Tgt p.R209C SYT16_uc010tsd.1_Missense_Mutation_p.R209C NM_031914 NP_114120 Q17RD7 SYT16_HUMAN Homo sapiens synaptotagmin XVI (SYT16), mRNA. 209 p.R209S(3) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) CCAGAGTTTCCGTTCAGTGAC 0.483000 25 7 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75265376 75265376 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:75265376C>T uc001xqj.4 + 4 3500 c.3376C>T c.(3376-3378)Cga>Tga p.R1126* YLPM1_uc001xql.4_Non-coding_Transcript NM_019589 NP_062535 P49750 YLPM1_HUMAN Homo sapiens YLP motif containing 1 (YLPM1), mRNA. 931 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GGGACCTCTTCGAAGGGCTGG 0.637000 25 4 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25715851 25715851 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:25715851G>A uc003xes.2 - 13 1777 c.1512C>T c.(1510-1512)acC>acT p.T504T DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript NM_022659 NP_073150 Q9HAK2 COE2_HUMAN Homo sapiens early B-cell factor 2 (EBF2), mRNA. 504 Pro/Ser/Thr-rich. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) AAGGAGAGCCGGTGGGTGAGC 0.473000 44 11 0 0 1 0 0 PLK4 10733 broad.mit.edu 37 4 128814468 128814468 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:128814468C>T uc003ifo.3 + 10 2491 c.2217C>T c.(2215-2217)ttC>ttT p.F739F PLK4_uc011cgs.2_Silent_p.F707F|PLK4_uc011cgt.2_Silent_p.F698F NM_014264 NP_001177730 O00444 PLK4_HUMAN Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA. 739 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 CAGAAGATTTCATTCAGGTGA 0.274000 28 4 0 0 1 0 0 FAM3B 54097 broad.mit.edu 37 21 42694972 42694973 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:42694972_42694973GG>AA uc002yzb.1 + 1 288_289 c.142_143GG>AA c.(142-144)ggg>AAg p.G48K FAM3B_uc002yza.2_Non-coding_Transcript|FAM3B_uc002yzc.1_Intron|FAM3B_uc011aeq.2_Missense_Mutation_p.G62K NM_058186 NP_478066 P58499 FAM3B_HUMAN Homo sapiens family with sequence similarity 3, member B (FAM3B), transcript variant 1, mRNA. 48 apoptosis|insulin secretion extracellular space cytokine activity central_nervous_system(2)|endometrium(1)|lung(2) 5 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) CCGCAGCATCGGGGAGAGGCCT 0.609000 52 8 0 0 1 0 0 OR51Q1 390061 broad.mit.edu 37 11 5443745 5443745 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:5443745C>T uc010qzd.2 + 0 405 c.315C>T c.(313-315)ttC>ttT p.F105F HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA. 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGTTTTTCTTCCTTCATGGAT 0.512000 87 11 0 0 1 0 0 SEMA3A 10371 broad.mit.edu 37 7 83636697 83636697 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:83636697C>T uc003uhz.3 - 9 1427 c.1112G>A c.(1111-1113)gGa>gAa p.G371E NM_006080 NP_006071 Q14563 SEM3A_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA. 371 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GGGGACTCTTCCTTGATAAGG 0.438000 72 6 0 0 1 0 0 CAPSL 133690 broad.mit.edu 37 5 35910505 35910505 + Missense_Mutation SNP C T T rs145854210 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:35910505C>T uc003jjt.1 - 2 373 c.278G>A c.(277-279)gGa>gAa p.G93E CAPSL_uc003jju.1_Missense_Mutation_p.G93E NM_001042625 NP_653248 Q8WWF8 CAPSL_HUMAN Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA. 93 EF-hand 2. cytoplasm calcium ion binding p.G93E(2) central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) GTCTATTGTTCCATTTCCATC 0.373000 33 7 0 0 1 0 0 SLC16A2 6567 broad.mit.edu 37 X 73751256 73751256 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:73751256C>T uc004ebt.2 + 5 1876 c.1710C>T c.(1708-1710)ttC>ttT p.F570F SLC16A2_uc010nlr.1_3'UTR NM_006517 NP_006508 P36021 MOT8_HUMAN Homo sapiens solute carrier family 16, member 2 (monocarboxylic acid transporter 8) (SLC16A2), mRNA. 496 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) TCCTCTTCTTCGTCCCTCTGA 0.532000 20 5 0 0 1 0 0 SLC16A6 9120 broad.mit.edu 37 17 66267065 66267065 + Silent SNP G A A rs144195353 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:66267065G>A uc002jha.2 - 5 1549 c.1236C>T c.(1234-1236)gtC>gtT p.V412V ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Silent_p.V412V NM_001174166 NP_004685 O15403 MOT7_HUMAN Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA. 412 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) CAATGCCCACGACATCATCCT 0.468000 48 8 0 0 1 0 0 PPARG 5468 broad.mit.edu 37 3 12434237 12434237 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:12434237G>A uc003bwx.3 + 3 696 c.605G>A c.(604-606)gGg>gAg p.G202E PPARG_uc003bwr.3_Missense_Mutation_p.G174E|PPARG_uc003bws.3_Missense_Mutation_p.G174E|PPARG_uc003bwu.3_Missense_Mutation_p.G174E|PPARG_uc003bwv.3_Missense_Mutation_p.G174E|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc003bwt.1_Missense_Mutation_p.G174E|PPARG_uc003bww.1_Missense_Mutation_p.G202E NM_015869 NP_619726 P37231 PPARG_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA. 202 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) CTTGCAGTGGGGATGTCTCAT 0.378000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 56 6 0 0 1 0 0 DYRK1B 9149 broad.mit.edu 37 19 40319018 40319018 + Silent SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:40319018G>T uc002omj.3 - 5 1006 c.726C>A c.(724-726)ccC>ccA p.P242P DYRK1B_uc002omi.3_Silent_p.P242P|DYRK1B_uc002omk.3_Silent_p.P242P NM_004714 NP_004705 Q9Y463 DYR1B_HUMAN Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA. 242 Protein kinase. positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) AGATGTTTTCGGGCTTGAGGT 0.627000 31 3 0.115264 0.115915 1 1 0 ABL2 27 broad.mit.edu 37 1 179095588 179095589 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:179095588_179095589GG>AA uc001gmj.4 - 3 897_898 c.610_611CC>TT c.(610-612)cct>TTt p.P204F ABL2_uc010pnf.2_Missense_Mutation_p.P204F|ABL2_uc010png.2_Missense_Mutation_p.P183F|ABL2_uc010pnh.2_Missense_Mutation_p.P183F|ABL2_uc009wxe.3_Missense_Mutation_p.P183F|ABL2_uc001gmg.4_Missense_Mutation_p.P189F|ABL2_uc001gmi.4_Missense_Mutation_p.P189F|ABL2_uc010pne.2_Missense_Mutation_p.P168F|ABL2_uc001gmk.3_Missense_Mutation_p.P168F|ABL2_uc009wxf.2_Missense_Mutation_p.P189F NM_007314 NP_009298 P42684 ABL2_HUMAN Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA. 204 SH2. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) CAGCTGCCCAGGGCTACTCTCA 0.540000 T ETV6 AML 56 10 0 0 1 0 0 MFN2 9927 broad.mit.edu 37 1 12062089 12062089 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12062089C>T uc001atn.4 + 10 1542 c.1089C>T c.(1087-1089)gtC>gtT p.V363V MFN2_uc009vni.3_Silent_p.V363V NM_014874 NP_055689 O95140 MFN2_HUMAN Homo sapiens mitofusin 2 (MFN2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 363 blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 20 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) AGCACACGGTCCGGGCCAAGC 0.602000 149 19 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68193603 68193603 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:68193603C>T uc001ont.3 + 15 3660 c.3585C>T c.(3583-3585)gtC>gtT p.V1195V LRP5_uc009ysg.3_Silent_p.V605V NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 1195 Beta-propeller 4. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AGGGCCGTGTCGCCCACCTCA 0.627000 75 5 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158592942 158592942 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:158592942C>T uc001fst.1 - 42 6150 c.5951G>A c.(5950-5952)aGa>aAa p.R1984K NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1984 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTCGGGAAGTCTCTCTTGCTG 0.498000 237 30 0 0 1 0 0 KRT1 3848 broad.mit.edu 37 12 53070916 53070916 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:53070916G>A uc001sau.1 - 5 1240 c.1181C>T c.(1180-1182)tCa>tTa p.S394L KRT1_uc001sav.1_Missense_Mutation_p.S394L NM_006121 NP_006112 P04264 K2C1_HUMAN Homo sapiens keratin 1 (KRT1), mRNA. 394 Coil 2.|Rod. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 TTCTATCTTTGAATTTCTCAC 0.418000 64 11 0 0 1 0 0 OR2C1 4993 broad.mit.edu 37 16 3406279 3406279 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:3406279C>T uc002cuw.1 + 0 391 c.339C>T c.(337-339)atC>atT p.I113I NM_012368 NP_036500 O95371 OR2C1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA. 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CCGAGTGCATCCTGCTGGTGG 0.582000 36 4 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133474262 133474262 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:133474262C>T uc003epu.2 + 9 2286 c.558C>T c.(556-558)ttC>ttT p.F186F TF_uc011bls.1_Silent_p.F186F|TF_uc011blt.2_Silent_p.F59F|TF_uc003epw.2_Intron|TF_uc003epv.2_Silent_p.F186F NM_001063 NP_001054 P02787 TRFE_HUMAN Homo sapiens transferrin (TF), mRNA. 186 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) GGACGGACTTCCCCCAGCTGT 0.572000 53 8 0 0 1 0 0 EGR1 1958 broad.mit.edu 37 5 137802694 137802694 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:137802694C>T uc003ldb.1 + 1 826 c.556C>T c.(556-558)Cag>Tag p.Q186* NM_001964 NP_001955 P18146 EGR1_HUMAN Homo sapiens early growth response 1 (EGR1), mRNA. 186 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CTCCGCCTCCCAGAGCCCACC 0.637000 134 7 0 0 1 0 0 ARNTL2 56938 broad.mit.edu 37 12 27573396 27573396 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:27573396G>A uc001rht.2 + 16 2061 c.1842G>A c.(1840-1842)atG>atA p.M614I ARNTL2_uc001rhu.2_Missense_Mutation_p.M600I|ARNTL2_uc001rhv.2_Missense_Mutation_p.M566I|ARNTL2_uc001rhw.3_Missense_Mutation_p.M577I|ARNTL2_uc010sjp.2_Silent_p.*541*|ARNTL2_uc009zji.2_Missense_Mutation_p.M580I|BC043511_uc001rhx.3_Intron NM_020183 NP_064568 Q8WYA1 BMAL2_HUMAN Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA. 614 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) CTGCATTTATGAATTACTTAG 0.448000 72 5 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50599417 50599417 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:50599417G>A uc003bjj.3 + 25 3570 c.3487G>A c.(3487-3489)Gaa>Aaa p.E1163K MOV10L1_uc003bjk.4_Missense_Mutation_p.E1117K|MOV10L1_uc011arp.2_Intron|MOV10L1_uc003bjl.3_Missense_Mutation_p.E290K NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA. 1163 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) TGCTTTGCTGGAATACAGTAT 0.502000 196 9 0 0 1 0 0 HSPA7 3311 broad.mit.edu 37 1 161576375 161576375 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:161576375G>A uc010pkp.1 + 0 527 c.295G>A c.(295-297)Gag>Aag p.E99K Homo sapiens heat shock 70kDa protein 7 (HSP70B) (HSPA7), non-coding RNA. GGTGGTGAGCGAGGGCGGCAA 0.622000 76 20 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6926469 6926469 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:6926469G>A uc002mfw.3 + 15 2117 c.2079G>A c.(2077-2079)atG>atA p.M693I EMR1_uc010dvc.3_Missense_Mutation_p.M628I|EMR1_uc010dvb.3_Missense_Mutation_p.M641I|EMR1_uc010xji.2_Missense_Mutation_p.M552I|EMR1_uc010xjj.2_Missense_Mutation_p.M516I NM_001974 NP_001965 Q14246 EMR1_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA. 693 cell adhesion|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) TGTTCTTGATGGTCAGAAACC 0.537000 97 6 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140725839 140725839 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140725839C>T uc003ljm.2 + 0 2239 c.2239C>T c.(2239-2241)Cgg>Tgg p.R747W PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.R747W NM_018916 NP_061739 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA. 757 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACGGGGTTCGGGCTTTCCT 0.657000 94 10 0 0 1 0 0 ARSJ 79642 broad.mit.edu 37 4 114899620 114899621 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:114899620_114899621GG>AA uc003ibq.1 - 0 1258_1259 c.370_371CC>TT c.(370-372)cca>TTa p.P124L ARSJ_uc010imu.1_Missense_Mutation_p.P124L|ARSJ_uc010imv.1_5'UTR NM_024590 NP_078866 Q5FYB0 ARSJ_HUMAN Homo sapiens arylsulfatase family, member J (ARSJ), mRNA. 124 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) ACTCCTGGATGGTGTGCAAATA 0.401000 49 9 0 0 1 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030123 95030123 + Missense_Mutation SNP C G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:95030123C>G uc010avd.3 + 1 689 c.415C>G c.(415-417)Ctt>Gtt p.L139V SERPINA4_uc001ydk.3_Missense_Mutation_p.L102V|SERPINA4_uc001ydl.3_Missense_Mutation_p.L102V NM_006215 NP_006206 P29622 KAIN_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA. 102 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity p.R138G(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) CAGCCAGATCCTTGAGGGCCT 0.632000 30 7 0 0 1 0 0 CTSW 1521 broad.mit.edu 37 11 65649946 65649946 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:65649946G>A uc001ogc.1 + 4 529 c.487G>A c.(487-489)Gag>Aag p.E163K NM_001335 NP_001326 P56202 CATW_HUMAN Homo sapiens cathepsin W (CTSW), mRNA. 163 immune response|proteolysis cysteine-type endopeptidase activity p.E163D(1) central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5) 9 READ - Rectum adenocarcinoma(159;0.168) AGGCAACATAGAGACCCTGTG 0.642000 78 5 0 0 1 0 0 CPA1 1357 broad.mit.edu 37 7 130023569 130023569 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:130023569C>T uc003vpx.3 + 5 702 c.630C>T c.(628-630)ctC>ctT p.L210L CPA1_uc011kpf.1_Silent_p.L122L|CPA1_uc003vpw.2_Intron NM_001868 NP_001859 P15085 CBPA1_HUMAN Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA. 210 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding p.L210L(2) endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) CCGCCATTCTCGACACCTTGG 0.607000 138 11 0 0 1 0 0 INHBA 3624 broad.mit.edu 37 7 41739884 41739884 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:41739884C>T uc003thq.3 - 0 324 c.89G>A c.(88-90)aGc>aAc p.S30N INHBA-AS1_uc003tht.4_Intron|INHBA_uc003thr.3_Missense_Mutation_p.S30N|INHBA-AS1_uc003ths.2_Intron NM_002192 NP_002183 P08476 INHBA_HUMAN Homo sapiens inhibin, beta A (INHBA), mRNA. 30 G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity p.S30R(1) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 GGGGGCCGCGCTGTGCCCCTC 0.587000 TSP Lung(11;0.080) 317 25 0 0 1 0 0 SFXN2 118980 broad.mit.edu 37 10 104486483 104486483 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:104486483C>T uc001kwb.2 + 1 256 c.90C>T c.(88-90)atC>atT p.I30I SFXN2_uc001kwc.2_Non-coding_Transcript NM_178858 NP_849189 Q96NB2 SFXN2_HUMAN Homo sapiens sideroflexin 2 (SFXN2), mRNA. 30 iron ion homeostasis integral to membrane cation transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1) 13 Colorectal(252;0.207) Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218) TCCTAAACATCACGGACCCCC 0.592000 70 10 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66409920 66409920 + Silent SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:66409920T>C uc021xzk.1 + 11 1772 c.1464T>C c.(1462-1464)ttT>ttC p.F488F MAST4_uc003jus.3_Silent_p.F299F|MAST4_uc003jut.2_Silent_p.F299F|MAST4_uc003juu.1_Silent_p.F309F|MAST4_uc011cra.1_Silent_p.F282F|MAST4_uc003juv.2_Silent_p.F294F|MAST4_uc003juw.3_Silent_p.F294F NM_001164664 NP_001158136 O15021 MAST4_HUMAN Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA. 491 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GCTAGGAATTTGATCCGGAAG 0.403000 42 7 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46564927 46564927 + Missense_Mutation SNP G A A rs139294318 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:46564927G>A uc001ncv.2 - 6 954 c.640C>T c.(640-642)Ccc>Tcc p.P214S AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Missense_Mutation_p.P214S|AMBRA1_uc001ncu.1_Missense_Mutation_p.P214S|AMBRA1_uc010rgu.1_Missense_Mutation_p.P214S|AMBRA1_uc001ncw.2_Missense_Mutation_p.P214S|AMBRA1_uc001ncx.2_Missense_Mutation_p.P214S NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA. 214 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) CCATCTATGGGGATCTCTGGT 0.527000 64 7 0 0 1 0 0 AGAP5 729092 broad.mit.edu 37 10 75457446 75457446 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:75457446G>A uc009xri.3 - 0 109 c.68C>T c.(67-69)tCg>tTg p.S23L AGAP5_uc001juu.4_5'UTR NM_001144000 NP_001137472 A6NIR3 AGAP5_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 (AGAP5), mRNA. 23 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1) 12 GGGACACACCGACCCCTGTTG 0.607000 111 9 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152286926 152286926 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152286926C>T uc001ezu.1 - 2 472 c.436G>A c.(436-438)Gaa>Aaa p.E146K AK056431_uc001ezv.3_Intron NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 146 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCCCTGTTTCTCTTGGGCTC 0.348000 Ichthyosis 83 14 0 0 1 0 0 HIST1H3J 8356 broad.mit.edu 37 6 27858321 27858321 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:27858321G>A uc003nka.3 - 0 250 c.250C>T c.(250-252)Cgt>Tgt p.R84C HIST1H2BO_uc003nkc.1_5'Flank NM_003535 NP_066298 P68431 H31_HUMAN Homo sapiens histone cluster 1, H3j (HIST1H3J), mRNA. 84 S phase|blood coagulation|nucleosome assembly|regulation of gene silencing nucleoplasm|nucleosome DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 8 CTCTGGAAACGAAGGTCGGTT 0.562000 64 4 0 0 1 0 0 ESPNL 339768 broad.mit.edu 37 2 239036292 239036292 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:239036292C>T uc002vxq.4 + 6 1242 c.1132C>T c.(1132-1134)Cat>Tat p.H378Y ESPNL_uc010fyw.3_Missense_Mutation_p.H74Y NM_194312 NP_919288 Q6ZVH7 ESPNL_HUMAN Homo sapiens espin-like (ESPNL), mRNA. 378 Pro-rich. endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) CTGGCCTGGCCATCCTGACCA 0.657000 24 7 0 0 1 0 0 ENPP6 133121 broad.mit.edu 37 4 185038969 185038969 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:185038969C>T uc003iwc.3 - 3 760 c.618G>A c.(616-618)agG>agA p.R206R NM_153343 NP_699174 Q6UWR7 ENPP6_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA. 206 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) GGGCATCTTTCCTCTGCGGAG 0.582000 98 12 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32724849 32724849 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:32724849C>T uc010ezu.3 + 45 8838 c.8704C>T c.(8704-8706)Cgt>Tgt p.R2902C NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA. 2902 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CAATCTTATTCGTCCGGGTGA 0.433000 126 45 0 0 1 0 0 RNF152 220441 broad.mit.edu 37 18 59483346 59483346 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:59483346C>T uc002lih.1 - 1 763 c.351G>A c.(349-351)atG>atA p.M117I RNF152_uc021ula.1_Missense_Mutation_p.M117I NM_173557 NP_775828 Q8N8N0 RN152_HUMAN Homo sapiens ring finger protein 152 (RNF152), mRNA. 117 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) GGCGGCAGCCCATGTCTCCGG 0.652000 44 8 0 0 1 0 0 IL2RB 3560 broad.mit.edu 37 22 37538546 37538546 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:37538546C>T uc003aqv.1 - 3 341 c.210G>A c.(208-210)tgG>tgA p.W70* NM_000878 NP_000869 P14784 IL2RB_HUMAN Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA. 70 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) AGGTTTGGTTCCACCGCCTTT 0.582000 78 9 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22447256 22447256 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:22447256C>T uc010tmm.2 + 1 429 c.237C>T c.(235-237)atC>atT p.I79I TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Non-coding_Transcript Homo sapiens mRNA for unknown variable region, clone: SEB 74. TTAAAGGCATCAACGGTTTTG 0.458000 OREG0022573 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 4 0 0 1 0 0 GSX2 170825 broad.mit.edu 37 4 54967895 54967895 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:54967895C>T uc010igp.1 + 1 985 c.721C>T c.(721-723)Ctg>Ttg p.L241L PDGFRA_uc003haa.3_Intron NM_133267 NP_573574 Q9BZM3 GSX2_HUMAN Homo sapiens GS homeobox 2 (GSX2), mRNA. 241 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(2)|lung(2) 6 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) TTACCTGAACCTGTCGGAGAA 0.547000 136 7 0 0 1 0 0 HEATR8 374977 broad.mit.edu 37 1 55119069 55119069 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:55119069C>T uc010ooe.1 + 2 794 c.470C>T c.(469-471)tCa>tTa p.S157L HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Missense_Mutation_p.S157L|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.S157L|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA. 157 integral to membrane binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AAGTGCCTCTCAAGTAAGATT 0.493000 72 6 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10108068 10108068 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:10108068G>A uc002mmq.1 - 10 1328 c.1242C>T c.(1240-1242)ttC>ttT p.F414F NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 414 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GGTCGCCAGGGAATCCTGGGG 0.592000 42 4 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164393463 164393463 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:164393463C>T uc003iqp.4 - 0 1585 c.1424G>A c.(1423-1425)cGa>cAa p.R475Q NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN Homo sapiens transketolase-like 2 (TKTL2), mRNA. 475 cytoplasm metal ion binding|transketolase activity p.R475Q(2) breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TTGGCTGGTTCGAATGAAGCA 0.453000 95 5 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33137636 33137636 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:33137636G>A uc003ocx.1 - 49 3890 c.3662C>T c.(3661-3663)cCa>cTa p.P1221L COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.P1135L|COL11A2_uc003ocz.1_Missense_Mutation_p.P1114L NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 1221 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CTGGATCCCTGGAGATCCTGA 0.547000 76 10 0 0 1 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118360595 118360595 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:118360595C>T uc001lco.1 + 9 963 c.945C>T c.(943-945)ttC>ttT p.F315F PNLIPRP1_uc001lcp.2_Silent_p.F315F NM_006229 NP_006220 P54315 LIPR1_HUMAN Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA. 315 lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) ACAAGTGCTTCCCGTGTCCAG 0.443000 60 7 0 0 1 0 0 MNDA 4332 broad.mit.edu 37 1 158813902 158813902 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:158813902C>T uc001fsz.1 + 3 760 c.560C>T c.(559-561)tCg>tTg p.S187L NM_002432 NP_002423 P41218 MNDA_HUMAN Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA. 187 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) TCCAACACTTCGTTTACTCCG 0.493000 84 10 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11441515 11441515 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:11441515C>T uc021zzo.1 - 22 4570 c.4318G>A c.(4318-4320)Gga>Aga p.G1440R THSD7A_uc021zzn.1_Missense_Mutation_p.G1438R NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA. 1440 TSP type-1 15. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ACCTGTATTCCACCAAAGCCT 0.438000 HNSCC(18;0.044) 43 5 0 0 1 0 0 KCNJ11 3767 broad.mit.edu 37 11 17409006 17409006 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:17409006G>A uc001mna.3 - 0 1201 c.633C>T c.(631-633)atC>atT p.I211I KCNJ11_uc001mnb.4_Silent_p.I124I NM_000525 NP_001159762 B4DWI4 B4DWI4_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA. 124 integral to membrane ATP-activated inward rectifier potassium channel activity endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2) 16 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) TGGTGGCGCTGATGATCATGC 0.637000 OREG0020810 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 441 45 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74006118 74006118 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:74006118C>T uc010wss.1 - 21 3462 c.3234G>A c.(3232-3234)ctG>ctA p.L1078L EVPL_uc002jqi.2_Silent_p.L1056L|EVPL_uc010wst.1_Silent_p.L526L NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1056 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GCTCCTTCTTCAGCCCTTCCA 0.612000 139 28 0 0 1 0 0 AQPEP 206338 broad.mit.edu 37 5 115298574 115298574 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:115298574G>A uc003kro.3 + 0 424 c.260G>A c.(259-261)tGg>tAg p.W87* AQPEP_uc003krp.3_Non-coding_Transcript|AX747550_uc003krn.1_5'UTR NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN Homo sapiens laeverin (AQPEP), mRNA. 87 proteolysis integral to membrane metallopeptidase activity|zinc ion binding CCGAGCAACTGGCGACCCCCG 0.692000 41 5 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183694641 183694641 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:183694641C>T uc003ivd.1 + 21 4984 c.4909C>T c.(4909-4911)Cgt>Tgt p.R1637C NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1637 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CAGTGAAGGTCGTCTGACAAA 0.403000 70 17 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148640 34148640 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:34148640C>T uc004ddg.3 - 0 1808 c.1756G>A c.(1756-1758)Gaa>Aaa p.E586K NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 586 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GGTGTATCTTCCTGAAGCAGT 0.493000 31 4 0 0 1 0 0 BRI3BP 140707 broad.mit.edu 37 12 125509700 125509700 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:125509700C>T uc001uha.1 + 2 623 c.480C>T c.(478-480)atC>atT p.I160I DL490908_uc021rgk.1_5'Flank NM_080626 NP_542193 Q8WY22 BRI3B_HUMAN Homo sapiens BRI3 binding protein (BRI3BP), mRNA. 160 integral to membrane|mitochondrial outer membrane p.W159S(1) large_intestine(1)|lung(8)|ovary(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576) TCTTCTGGATCGTGCGGGTCG 0.627000 97 7 0 0 1 0 0 HTRA1 5654 broad.mit.edu 37 10 124249002 124249002 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:124249002G>A uc001lgj.2 + 2 765 c.637G>A c.(637-639)Gga>Aga p.G213R NM_002775 NP_002766 Q92743 HTRA1_HUMAN Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA. 213 Serine protease. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) GTCGGAAGATGGACTGATCGT 0.498000 100 5 0 0 1 0 0 ZNF793 390927 broad.mit.edu 37 19 38028151 38028151 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:38028151C>T uc010efm.3 + 7 1033 c.591C>T c.(589-591)ttC>ttT p.F197F ZNF793_uc010xts.2_Silent_p.F197F NM_001013659 NP_001013681 Q6ZN11 ZN793_HUMAN Homo sapiens zinc finger protein 793 (ZNF793), mRNA. 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGAAAGCTTTCACCCAGAACC 0.458000 25 4 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36595296 36595296 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:36595296G>A uc021qgb.1 + 0 442 c.442G>A c.(442-444)Gct>Act p.A148T RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.A148T NM_000448 NP_000439 P15918 RAG1_HUMAN Homo sapiens recombination activating gene 1 (RAG1), mRNA. 148 Interaction with importin alpha-1. T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GGAAAAGAGAGCTACTTCCTG 0.493000 Familial Hemophagocytic Lymphohistiocytosis 21 3 0 0 1 0 0 PTPRN 5798 broad.mit.edu 37 2 220156215 220156215 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:220156215G>A uc002vkz.3 - 19 2947 c.2706C>T c.(2704-2706)tcC>tcT p.S902S PTPRN_uc010zlc.2_Silent_p.S812S|PTPRN_uc002vla.3_Silent_p.S873S NM_002846 NP_001186693 Q16849 PTPRN_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA. 902 Tyrosine-protein phosphatase. response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) TGATGGGGCAGGAGCGGCCCC 0.587000 56 4 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 44917141 44917141 + Missense_Mutation SNP C T T rs144132963 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:44917141C>T uc010skz.1 - 17 2206 c.2081G>A c.(2080-2082)gGa>gAa p.G694E NELL2_uc001rof.3_Missense_Mutation_p.G643E|NELL2_uc001rog.2_Missense_Mutation_p.G644E|NELL2_uc001roh.2_Missense_Mutation_p.G644E|NELL2_uc009zkd.2_Missense_Mutation_p.G596E|NELL2_uc010sla.1_Missense_Mutation_p.G667E|NELL2_uc001roi.1_Missense_Mutation_p.G644E NM_001145107 NP_006150 Q99435 NELL2_HUMAN Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA. 644 cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity p.G644E(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) CTTAACTTTTCCATCATGGAT 0.403000 92 10 0 0 1 0 0 RPL13AP20 387841 broad.mit.edu 37 12 13028607 13028607 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:13028607C>T uc010sho.2 + 0 197 c.175C>T c.(175-177)Cgc>Tgc p.R59C Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA. GGCTTTCCTCCGCAAGCGGAT 0.572000 15 3 0 0 1 0 0 ECEL1 9427 broad.mit.edu 37 2 233349775 233349775 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:233349775C>T uc002vsv.2 - 3 1087 c.882G>A c.(880-882)atG>atA p.M294I ECEL1_uc010fya.1_Missense_Mutation_p.M294I|ECEL1_uc010fyb.1_Missense_Mutation_p.M1I NM_004826 NP_004817 O95672 ECEL1_HUMAN Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA. 294 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) GCACTCGCTCCATGAACACCC 0.647000 34 7 0 0 1 0 0 C2orf44 80304 broad.mit.edu 37 2 24253872 24253872 + Silent SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:24253872G>T uc002rep.2 - 3 2228 c.2097C>A c.(2095-2097)gtC>gtA p.V699V C2orf44_uc010eya.2_3'UTR NM_025203 NP_079479 Q9H6R7 CB044_HUMAN Homo sapiens chromosome 2 open reading frame 44 (C2orf44), transcript variant 1, mRNA. 699 protein binding C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCCTGTAAAGACTTTAAGAG 0.468000 T ALK NSCLC 40 11 4.68919e-08 4.74937e-08 1 1 0 AOC4 90586 broad.mit.edu 37 17 41019511 41019511 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:41019511C>T uc002ibw.1 + 0 350 c.216C>T c.(214-216)cgC>cgT p.R72R AF047486_uc002ibx.3_5'Flank Homo sapiens AOC3 pseudogene (AOC4), non-coding RNA. CTGTGATGCGCTTTCTGACCC 0.637000 154 8 0 0 1 0 0 SPATA21 374955 broad.mit.edu 37 1 16748449 16748449 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:16748449G>A uc001ayn.3 - 3 535 c.52C>T c.(52-54)Ccc>Tcc p.P18S SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Intron NM_198546 NP_940948 Q7Z572 SPT21_HUMAN Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA. 18 calcium ion binding breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) GGCAGGAAGGGGTTGACTGTC 0.587000 170 22 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62758607 62758607 + Silent SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:62758607C>A uc010ihh.3 + 6 1683 c.1510C>A c.(1510-1512)Cga>Aga p.R504R LPHN3_uc003hcq.4_Silent_p.R504R|LPHN3_uc003hcs.1_Silent_p.R333R NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN Homo sapiens latrophilin 3 (LPHN3), mRNA. 504 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.R504Q(1) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TGTGGAAGCCCGAGAAATCAT 0.488000 12 4 1 1 1 1 0 VWF 7450 broad.mit.edu 37 12 6103305 6103305 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:6103305C>T uc001qnn.1 - 36 6571 c.6321G>A c.(6319-6321)tgG>tgA p.W2107* VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 2107 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CAAGTGTTTTCCAGTCTGTGG 0.522000 50 5 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72775158 72775158 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:72775158C>T uc002llw.2 + 7 5534 c.5481C>T c.(5479-5481)ttC>ttT p.F1827F NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA. 1827 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GAGCCACCTTCGTGGAGACAG 0.607000 123 19 0 0 1 0 0 PABPC3 5042 broad.mit.edu 37 13 25670559 25670559 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:25670559G>A uc001upy.3 + 0 284 c.223G>A c.(223-225)Gat>Aat p.D75N NM_030979 NP_112241 Q9H361 PABP3_HUMAN Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA. 75 RRM 1. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) CATGAATTTTGATGTTATAAA 0.478000 32 5 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139809070 139809070 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:139809070C>T uc003yvd.3 - 11 2035 c.1588G>A c.(1588-1590)Ggt>Agt p.G530S NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 530 Collagen-like 2.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) ACCTTTTCACCCTTTTCCCCT 0.463000 HNSCC(7;0.00092) 204 9 0 0 1 0 0 EPN2 22905 broad.mit.edu 37 17 19186759 19186759 + Silent SNP C T T rs147412182 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:19186759C>T uc002gvd.4 + 2 775 c.327C>T c.(325-327)ttC>ttT p.F109F EPN2_uc002gvc.2_Silent_p.F109F|EPN2_uc010vyn.1_Silent_p.F109F|EPN2_uc010cql.1_Intron|EPN2_uc002gve.4_Silent_p.F109F|EPN2_uc002gvf.4_Intron|EPN2_uc010vyo.2_Intron|EPN2_uc002gvh.1_Silent_p.F109F|EPN2_uc010vyp.2_Silent_p.F109F|EPN2_uc010vyq.2_Silent_p.F109F NM_014964 NP_001096134 O95208 EPN2_HUMAN Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA. 109 ENTH. endocytosis lipid binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) TGAAGGACTTCCAGTACATTG 0.572000 29 4 0 0 1 0 0 MRPL46 26589 broad.mit.edu 37 15 89002984 89002984 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:89002984A>T uc002bmj.2 - 3 725 c.700T>A c.(700-702)Ttc>Atc p.F234I MRPL46_uc002bmi.1_3'UTR NM_022163 NP_071446 Q9H2W6 RM46_HUMAN Homo sapiens mitochondrial ribosomal protein L46 (MRPL46), nuclear gene encoding mitochondrial protein, mRNA. 234 mitochondrion|ribosome hydrolase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Lung NSC(78;0.203) BRCA - Breast invasive adenocarcinoma(143;0.188) AGTGCTTTGAAGAAGAACACC 0.498000 44 5 0 0 1 0 0 PRTN3 5657 broad.mit.edu 37 19 843546 843546 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:843546G>A uc002lqa.1 + 1 171 c.147G>A c.(145-147)ggG>ggA p.G49G PRTN3_uc021umb.1_Silent_p.G8G NM_002777 NP_002768 P24158 PRTN3_HUMAN Homo sapiens proteinase 3 (PRTN3), mRNA. 49 Peptidase S1. collagen catabolic process|positive regulation of cell proliferation|proteolysis protein binding|serine-type endopeptidase activity lung(1)|ovary(2)|urinary_tract(1) 4 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGATGCGGGGGAACCCGGGCA 0.711000 11 4 0 0 1 0 0 C22orf29 79680 broad.mit.edu 37 22 19839542 19839542 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:19839542G>A uc002zqg.3 - 1 842 c.243C>T c.(241-243)ccC>ccT p.P81P GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.3_Silent_p.P81P|C22orf29_uc002zqi.3_Silent_p.P81P|C22orf29_uc021wli.1_Silent_p.P81P NM_024627 NP_078903 Q7L3V2 CV029_HUMAN Homo sapiens chromosome 22 open reading frame 29 (C22orf29), mRNA. 81 NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 7 Colorectal(54;0.0993) GCCCAGCTAGGGGACCCCTTT 0.632000 64 5 0 0 1 0 0 CD38 952 broad.mit.edu 37 4 15842143 15842143 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:15842143C>T uc003gol.1 + 6 928 c.821C>T c.(820-822)tCc>tTc p.S274F CD38_uc021xmk.1_Non-coding_Transcript NM_001775 NP_001766 P28907 CD38_HUMAN Homo sapiens CD38 molecule (CD38), mRNA. 274 B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane NAD+ nucleosidase activity|binding|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1) 14 ATTCAATTTTCCTGCAAGAAT 0.348000 36 6 0 0 1 0 0 TCR-alpha 0 broad.mit.edu 37 14 22337387 22337387 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:22337387G>A uc021rpg.1 + 1 241 c.178G>A c.(178-180)Gga>Aga p.G60R TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 85. GCAAGAACTTGGAAAAGGACC 0.428000 105 6 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228464220 228464220 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:228464220A>G uc009xez.1 + 21 6334 c.6290A>G c.(6289-6291)gAg>gGg p.E2097G OBSCN_uc001hsn.3_Missense_Mutation_p.E2097G|OBSCN_uc001hsp.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 2097 Ig-like 21. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCTACCATGGAGGTGCAGCTG 0.701000 63 8 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152484282 152484282 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:152484282C>T uc021vrb.1 - 63 9198 c.9169G>A c.(9169-9171)Gac>Aac p.D3057N NEB_uc002txu.3_Missense_Mutation_p.D3300N|NEB_uc021vrc.1_Missense_Mutation_p.D3300N|NEB_uc010fnx.3_Missense_Mutation_p.D3045N|NEB_uc021vrd.1_Missense_Mutation_p.D3057N NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 3057 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ATCTTGGGGTCATCTTCAATG 0.453000 114 25 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7677037 7677037 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:7677037C>T uc002mgu.4 + 12 1840 c.1739C>T c.(1738-1740)tCg>tTg p.S580L CAMSAP3_uc002mgv.4_Missense_Mutation_p.S553L|CAMSAP3_uc002mgw.3_5'Flank NM_001080429 NP_001073898 Q9P1Y5 CAMP3_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA. 553 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 GCGGTGGCTTCGTCCCCAGCA 0.647000 13 4 0 0 1 0 0 TARS2 80222 broad.mit.edu 37 1 150463975 150463976 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:150463975_150463976CC>TT uc001euq.3 + 4 625_626 c.618_619CC>TT c.(616-621)cgccag>cgTTag p.Q207* TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Nonsense_Mutation_p.Q207*|TARS2_uc009wlt.3_Intron|TARS2_uc009wls.3_Nonsense_Mutation_p.Q207* NM_025150 NP_079426 Q9BW92 SYTM_HUMAN Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA. 207 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) ATCAGCTTCGCCAGTTGTTCAA 0.535000 89 15 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74824989 74824989 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:74824989G>A uc021rwl.1 + 0 1503 c.1503G>A c.(1501-1503)agG>agA p.R501R VRTN_uc001xpw.4_Silent_p.R501R NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA. 501 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 TGCCACTAAGGATGCCCCTGT 0.672000 91 5 0 0 1 0 0 PHF21A 51317 broad.mit.edu 37 11 45967506 45967506 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:45967506G>A uc001ncc.4 - 13 1958 c.1334C>T c.(1333-1335)cCa>cTa p.P445L PHF21A_uc001ncb.4_Intron|PHF21A_uc009ykx.3_Intron|PHF21A_uc001nce.2_Missense_Mutation_p.P446L|PHF21A_uc001nca.1_Missense_Mutation_p.P181L NM_001101802 NP_001095272 Q96BD5 PF21A_HUMAN Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA. 445 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 GGGGGATGTTGGGGTAAGGGC 0.517000 98 7 0 0 1 0 0 LMTK3 114783 broad.mit.edu 37 19 49001465 49001465 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:49001465C>T uc002pjk.3 - 11 2948 c.2948G>A c.(2947-2949)aGa>aAa p.R983K NM_001080434 NP_001073903 Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA. breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) TTTCTCTTCTCTCTCGGGGGA 0.647000 87 8 0 0 1 0 0 C6orf222 389384 broad.mit.edu 37 6 36290136 36290136 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:36290136C>T uc003oly.3 - 8 1733 c.1555G>A c.(1555-1557)Ggc>Agc p.G519S NM_001010903 NP_001010903 P0C671 CF222_HUMAN Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA. 519 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 GGCGTGTGGCCTCTAGCCTGG 0.582000 86 12 0 0 1 0 0 WDR92 116143 broad.mit.edu 37 2 68352445 68352446 + RNA DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:68352445_68352446GG>AA uc002sed.1 - 8 c.1095_1096CC>TT Q96MX6 WDR92_HUMAN Homo sapiens WD repeat domain 92 (WDR92), mRNA. apoptosis|histone lysine methylation methylated histone residue binding endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1) 12 GTGAGCCCTTGGGCCGCATCTC 0.500000 48 5 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32017293 32017293 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:32017293C>T uc003nzl.2 - 27 9707 c.9505G>A c.(9505-9507)Gag>Aag p.E3169K TNXB_uc003nzh.1_5'Flank NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 3216 Fibronectin type-III 23. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACTGTCAACTCCCCCAGGAGC 0.652000 357 56 0 0 1 0 0 CFP 5199 broad.mit.edu 37 X 47485900 47485900 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:47485900G>A uc004dih.3 - 7 1201 c.959C>T c.(958-960)tCg>tTg p.S320L CFP_uc004dig.4_Missense_Mutation_p.S320L|CFP_uc004dii.1_Missense_Mutation_p.S256L|CFP_uc010nhu.2_Missense_Mutation_p.S320L NM_002621 NP_002612 P27918 PROP_HUMAN Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA. 320 TSP type-1 5. complement activation, alternative pathway|defense response to bacterium extracellular space breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 18 CTCCCCCCACGAGTCCCACTC 0.617000 18 3 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41419077 41419077 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:41419077C>T uc001rmm.1 + 20 2762 c.2649C>T c.(2647-2649)gcC>gcT p.A883A CNTN1_uc001rmn.1_Silent_p.A872A NM_001843 NP_001834 Q12860 CNTN1_HUMAN Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA. 883 Fibronectin type-III 3. Notch signaling pathway|axon guidance|cell adhesion anchored to membrane|membrane fraction|plasma membrane p.G882W(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AAGTCGGGGCCTGCAATAGTG 0.473000 56 6 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40360022 40360022 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:40360022C>T uc003oph.1 - 2 2495 c.2030G>A c.(2029-2031)aGg>aAg p.R677K NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA. 677 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GGCTGGAGTCCTGGAGTCCAG 0.731000 14 6 0 0 1 0 0 RCOR3 55758 broad.mit.edu 37 1 211451573 211451573 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:211451573C>T uc010psw.2 + 5 826 c.631C>T c.(631-633)Cag>Tag p.Q211* RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Nonsense_Mutation_p.Q211*|RCOR3_uc001hif.3_Nonsense_Mutation_p.Q211*|RCOR3_uc001hig.3_Nonsense_Mutation_p.Q153* NM_001136223 NP_060724 Q9P2K3 RCOR3_HUMAN Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA. 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) TAGACATAATCAGGGTGACAG 0.378000 71 16 0 0 1 0 0 CD55 1604 broad.mit.edu 37 1 207510695 207510695 + Missense_Mutation SNP C T T rs12135160 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:207510695C>T uc001hfq.4 + 7 1295 c.1001C>T c.(1000-1002)tCc>tTc p.S334F CD55_uc001hfr.4_Missense_Mutation_p.S334F|CD55_uc010psf.2_Non-coding_Transcript|CD55_uc009xcf.3_Missense_Mutation_p.S270F|CD55_uc009xce.3_Missense_Mutation_p.S334F NM_000574 NP_000565 P08174 DAF_HUMAN Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA. 334 Ser/Thr-rich. complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 Chloramphenicol(DB00446) ACACCTGTTTCCAGGACAACC 0.423000 29 4 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10077060 10077060 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:10077060G>A uc002mmq.1 - 63 4798 c.4712C>T c.(4711-4713)tCg>tTg p.S1571L NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 1571 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent p.S1571S(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) AACCCTGAACGAGTCCCGCGC 0.612000 42 7 0 0 1 0 0 OR51A7 119687 broad.mit.edu 37 11 4929304 4929304 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:4929304G>A uc010qyq.2 + 0 705 c.705G>A c.(703-705)aaG>aaA p.K235K NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA. 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K235N(2)|p.L234P(1) breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AGAGGCTTAAGGCCCTAAATA 0.478000 35 8 0 0 1 0 0 THUMPD3 25917 broad.mit.edu 37 3 9406785 9406786 + Silent DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:9406785_9406786CC>TT uc003bro.4 + 1 181_182 c.33_34CC>TT c.(31-36)ctccta>ctTTta p.11_12LL>LL LOC440944_uc003brm.3_Intron|THUMPD3_uc003brn.4_Silent_p.11_12LL>LL NM_001114092 NP_056268 Q9BV44 THUM3_HUMAN Homo sapiens THUMP domain containing 3 (THUMPD3), transcript variant 2, mRNA. 11 RNA binding|methyltransferase activity|protein binding NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 19 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) CTAACCAACTCCTAGATGTGAA 0.431000 71 5 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33549404 33549404 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:33549404G>A uc003jia.1 - 20 4373 c.4210C>T c.(4210-4212)Cac>Tac p.H1404Y ADAMTS12_uc010iuq.1_Missense_Mutation_p.H1319Y NM_030955 NP_112217 P58397 ATS12_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA. 1404 TSP type-1 6. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 AACTGGCAGTGAAATGGCCTC 0.597000 HNSCC(64;0.19) 80 7 0 0 1 0 0 RGS6 9628 broad.mit.edu 37 14 72976923 72976923 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:72976923G>A uc001xna.4 + 13 1550 c.1027G>A c.(1027-1029)Gac>Aac p.D343N RGS6_uc021rvv.1_Missense_Mutation_p.D308N|RGS6_uc010ttn.2_Missense_Mutation_p.D343N|RGS6_uc021rvw.1_Missense_Mutation_p.D343N|RGS6_uc021rvx.1_Missense_Mutation_p.D343N|RGS6_uc021rvy.1_Missense_Mutation_p.D306N|RGS6_uc021rvz.1_Missense_Mutation_p.D306N|RGS6_uc001xmy.4_Missense_Mutation_p.D343N|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.D343N|RGS6_uc021rwa.1_Missense_Mutation_p.D306N|RGS6_uc021rwb.1_Missense_Mutation_p.D306N|RGS6_uc010ttp.1_Missense_Mutation_p.D274N|RGS6_uc021rwc.1_Missense_Mutation_p.D204N NM_001204423 NP_001191352 P49758 RGS6_HUMAN Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA. 343 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) GATATTGAAGGACCAGGTGGG 0.463000 131 16 0 0 1 0 0 KCNK5 8645 broad.mit.edu 37 6 39159286 39159286 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:39159286G>A uc003oon.3 - 4 1244 c.880C>T c.(880-882)Ctt>Ttt p.L294F NM_003740 NP_003731 O95279 KCNK5_HUMAN Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA. 294 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 TTCTTGGAAAGAAAGCTGAAG 0.607000 181 12 0 0 1 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905618 144905618 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:144905618G>A uc022cfn.1 + 0 1675 c.1675G>A c.(1675-1677)Gaa>Aaa p.E559K SLITRK2_uc004fcd.3_Missense_Mutation_p.E559K|SLITRK2_uc010nsp.3_Missense_Mutation_p.E559K|SLITRK2_uc010nso.3_Missense_Mutation_p.E559K|SLITRK2_uc011mwq.2_Missense_Mutation_p.E559K|SLITRK2_uc011mwr.2_Missense_Mutation_p.E559K|SLITRK2_uc011mws.2_Missense_Mutation_p.E559K|SLITRK2_uc004fcg.3_Missense_Mutation_p.E559K|SLITRK2_uc011mwt.2_Missense_Mutation_p.E559K NM_032539 NP_115928 Q9H156 SLIK2_HUMAN Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA. 559 LRRCT 2. integral to membrane p.E559K(2) NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) GGTGACTTGCGAATCTCCTGC 0.498000 24 4 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42356846 42356846 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:42356846G>A uc001wvm.3 + 2 2216 c.1018G>A c.(1018-1020)Gga>Aga p.G340R LRFN5_uc010ana.3_Missense_Mutation_p.G340R NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA. 340 Ig-like. integral to membrane p.G340V(1)|p.N339Y(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GTATGATAACGGAACACTTGA 0.448000 HNSCC(30;0.082) 45 5 0 0 1 0 0 UNC45A 55898 broad.mit.edu 37 15 91492652 91492652 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:91492652C>T uc002bqg.3 + 13 2325 c.1985C>T c.(1984-1986)tCc>tTc p.S662F UNC45A_uc002bqd.3_Missense_Mutation_p.S647F|UNC45A_uc010uqr.2_Missense_Mutation_p.S54F|UNC45A_uc021suj.1_5'Flank NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA. 662 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CTGACCAGTTCCTGCAGAGAG 0.627000 231 14 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100235009 100235009 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:100235009G>A uc003hus.4 - 5 881 c.797C>T c.(796-798)tCg>tTg p.S266L ADH1B_uc003hut.4_Missense_Mutation_p.S226L|ADH1B_uc011ceh.2_Missense_Mutation_p.S111L|ADH1B_uc011cei.1_Missense_Mutation_p.S226L NM_000668 NP_000659 P00325 ADH1B_HUMAN Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA. 266 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding p.S266L(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GACTTCAAACGAAAAATCCAC 0.463000 74 4 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124377955 124377955 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:124377955C>T uc001uft.4 + 51 8842 c.8817C>T c.(8815-8817)acC>acT p.T2939T NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 2939 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGGGGGACACCCTGAGGACCT 0.582000 61 5 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150164064 150164064 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:150164064G>A uc003whj.3 + 1 608 c.278G>A c.(277-279)aGc>aAc p.S93N NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 93 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TCTGCTCCCAGCCTCCATGCT 0.512000 74 8 0 0 1 0 0 PLAC8L1 153770 broad.mit.edu 37 5 145464086 145464086 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:145464086G>A uc003lnv.3 - 3 515 c.443C>T c.(442-444)tCc>tTc p.S148F PLAC8L1_uc021yfd.1_Non-coding_Transcript|PLAC8L1_uc011dbp.2_Non-coding_Transcript NM_001029869 NP_001025040 A1L4L8 PL8L1_HUMAN Homo sapiens PLAC8-like 1 (PLAC8L1), mRNA. 148 autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2) 10 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGGCAGATGGAAAAAGCCCA 0.517000 66 16 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21687649 21687649 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:21687649C>T uc002wsj.2 + 1 914 c.860C>T c.(859-861)cCc>cTc p.P287L PAX1_uc010zsl.2_Missense_Mutation_p.P287L|PAX1_uc010zsm.2_Missense_Mutation_p.P263L NM_006192 NP_006183 P15863 PAX1_HUMAN Homo sapiens paired box 1 (PAX1), mRNA. 287 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding p.S286S(1) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 CGCTCATGGCCCTCGGCACAC 0.662000 26 4 0 0 1 0 0 PAX6 5080 broad.mit.edu 37 11 31816309 31816309 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:31816309C>T uc009yjr.3 - 7 1020 c.551G>A c.(550-552)gGa>gAa p.G184E PAX6_uc001mtd.4_Missense_Mutation_p.G184E|PAX6_uc001mte.4_Missense_Mutation_p.G184E|PAX6_uc001mtg.4_Missense_Mutation_p.G198E|PAX6_uc001mtf.4_Missense_Mutation_p.G184E|PAX6_uc001mth.4_Missense_Mutation_p.G184E|PAX6_uc021qfl.1_Missense_Mutation_p.G198E|PAX6_uc021qfm.1_Missense_Mutation_p.G198E|PAX6_uc021qfn.1_Missense_Mutation_p.G184E NM_001127612 NP_001121084 P26367 PAX6_HUMAN Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA. 184 Gln/Gly-rich. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) GGTATTCTCTCCCCCTCCTTC 0.463000 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 79 4 0 0 1 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161163811 161163811 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:161163811G>A uc001fyt.4 - 4 1890 c.1462C>T c.(1462-1464)Ccc>Tcc p.P488S NM_005099 NP_005090 O75173 ATS4_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA. 488 Disintegrin. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TCGGCCCAGGGCGAGTGTTTG 0.657000 64 10 0 0 1 0 0 FAM13C 220965 broad.mit.edu 37 10 61083838 61083838 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:61083838G>A uc010qif.1 - 3 485 c.419C>T c.(418-420)tCa>tTa p.S140L FAM13C_uc010qid.2_Missense_Mutation_p.S35L|FAM13C_uc001jkn.3_Missense_Mutation_p.S118L|FAM13C_uc001jko.3_Missense_Mutation_p.S118L|FAM13C_uc010qie.2_Missense_Mutation_p.S35L|FAM13C_uc001jkp.3_Missense_Mutation_p.S35L NM_198215 NP_937858 Q8NE31 FA13C_HUMAN Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA. 118 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CTGACACTCTGACTGGCTGGA 0.478000 30 8 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380190 147380190 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:147380190C>T uc021ovm.1 + 0 108 c.108C>T c.(106-108)atC>atT p.I36I GJA8_uc001epu.2_Silent_p.I36I NM_005267 NP_005258 P48165 CXA8_HUMAN Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA. 36 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) GGATCCTCATCCTTGGCACGG 0.587000 64 4 0 0 1 0 0 MLL 4297 broad.mit.edu 37 11 118375975 118375975 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:118375975C>T uc001pta.3 + 26 9382 c.9359C>T c.(9358-9360)tCa>tTa p.S3120L MLL_uc001ptb.3_Missense_Mutation_p.S3123L NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 3120 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) ACAAATACTTCAGTATTGGGA 0.443000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 98 10 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231157414 231157414 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:231157414G>A uc002vql.3 + 19 1994 c.1879G>A c.(1879-1881)Gaa>Aaa p.E627K SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.E513K|SP140_uc002vqm.3_Missense_Mutation_p.E567K|SP140_uc010fxl.3_Missense_Mutation_p.E600K NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 627 SAND. defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CACCCCCACGGAATTTGAAAT 0.507000 99 21 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7172518 7172518 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:7172518G>A uc001qsj.3 + 8 1351 c.632G>A c.(631-633)gGg>gAg p.G211E C1S_uc001qsk.3_Missense_Mutation_p.G211E|C1S_uc001qsl.3_Missense_Mutation_p.G211E|C1S_uc009zfr.3_Missense_Mutation_p.G44E|C1S_uc009zfs.3_Non-coding_Transcript NM_201442 NP_958850 P09871 C1S_HUMAN Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA. 211 CUB 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TTGGAGAAAGGGTTCCAAGTG 0.478000 109 15 0 0 1 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161017845 161017845 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:161017845C>T uc001fxl.3 - 11 3312 c.2966G>A c.(2965-2967)tGg>tAg p.W989* USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Nonsense_Mutation_p.W778*|ARHGAP30_uc001fxm.3_Nonsense_Mutation_p.W835*|ARHGAP30_uc009wtx.3_Nonsense_Mutation_p.W662* NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA. 989 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CCCATTCCTCCAAGAGGATCG 0.592000 76 19 0 0 1 0 0 DNAH6 1768 broad.mit.edu 37 2 84811354 84811354 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:84811354G>A uc010fgb.3 + 14 2598 c.2461G>A c.(2461-2463)Gaa>Aaa p.E821K DNAH6_uc002soo.3_Missense_Mutation_p.E400K|DNAH6_uc002sop.3_Missense_Mutation_p.E400K NM_001370 NP_001361 Q9C0G6 DYH6_HUMAN Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA. 821 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 CGAAGTGAATGAAGTAAAACT 0.299000 40 5 0 0 1 0 0 DDX23 9416 broad.mit.edu 37 12 49233689 49233689 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:49233689G>A uc001rsm.3 - 4 509 c.418C>T c.(418-420)Cag>Tag p.Q140* NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA. 140 Glu-rich. U5 snRNP|catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 GATAATGGCTGGGCCTGAAGA 0.453000 47 9 0 0 1 0 0 LBH 81606 broad.mit.edu 37 2 30457361 30457361 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:30457361C>T uc002rne.2 + 1 325 c.117C>T c.(115-117)ggC>ggT p.G39G NM_030915 NP_112177 Q53QV2 LBH_HUMAN Homo sapiens limb bud and heart development homolog (mouse) (LBH), mRNA. 39 multicellular organismal development|transcription, DNA-dependent cytoplasm|nucleolus endometrium(2)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(172;0.155) GCAAGGATGGCCTTTCCTACC 0.567000 43 13 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37480389 37480389 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:37480389C>T uc003aqt.1 - 9 1204 c.1142G>A c.(1141-1143)aGg>aAg p.R381K TMPRSS6_uc003aqs.1_Missense_Mutation_p.R390K|TMPRSS6_uc003aqu.3_Missense_Mutation_p.R381K NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA. 390 CUB 2. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 ATACTTCTGCCTCCTCAGTGC 0.622000 28 3 0 0 1 0 0 DLG1 1739 broad.mit.edu 37 3 197009663 197009663 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:197009663G>A uc010ial.3 - 3 464 c.205C>T c.(205-207)Cgt>Tgt p.R69C DLG1_uc011bud.2_5'UTR|DLG1_uc003fxo.4_Missense_Mutation_p.R69C|DLG1_uc003fxn.4_Missense_Mutation_p.R69C|DLG1_uc011bue.2_Missense_Mutation_p.R69C|DLG1_uc011buf.1_Non-coding_Transcript|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Missense_Mutation_p.R69C NM_001098424 NP_001091894 Q12959 DLG1_HUMAN Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA. 69 actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) GGCTTTGAACGATCTATACAT 0.358000 85 8 0 0 1 0 0 SBK1 388228 broad.mit.edu 37 16 28331756 28331756 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:28331756C>T uc002dpd.3 + 3 1578 c.789C>T c.(787-789)ttC>ttT p.F263F NM_001024401 NP_001019572 Q52WX2 SBK1_HUMAN Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA. 263 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 ACGCCTTCTTCGAGGAGTTCG 0.711000 39 5 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178541002 178541002 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:178541002G>A uc003mjw.3 - 21 3604 c.3502C>T c.(3502-3504)Cat>Tat p.H1168Y NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 1168 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TCCAGGCCATGGATTTTGTAG 0.522000 88 18 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124331842 124331842 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:124331842C>T uc001lgk.1 + 4 306 c.200C>T c.(199-201)tCc>tTc p.S67F DMBT1_uc001lgl.1_Missense_Mutation_p.S67F|DMBT1_uc001lgm.1_Missense_Mutation_p.S67F|DMBT1_uc021qaf.1_Missense_Mutation_p.S67F|DMBT1_uc021qag.1_Missense_Mutation_p.S67F|DMBT1_uc021qah.1_Missense_Mutation_p.S67F|DMBT1_uc009xzz.1_Missense_Mutation_p.S67F|DMBT1_uc010qtx.1_Missense_Mutation_p.S67F|DMBT1_uc009yaa.1_5'UTR NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 67 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCTCCGATTTCCTTGGAGTCA 0.522000 88 11 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34298119 34298119 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:34298119C>T uc021uiv.1 + 18 2955 c.2858C>T c.(2857-2859)tCc>tTc p.S953F FHOD3_uc002kzs.1_Missense_Mutation_p.S778F|FHOD3_uc002kzt.1_Missense_Mutation_p.S761F|FHOD3_uc010dmz.1_Missense_Mutation_p.S493F|FHOD3_uc010dna.1_Missense_Mutation_p.S81F NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA. 761 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) GGGAGAGGTTCCATCTCCCCT 0.547000 91 12 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158492715 158492715 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:158492715C>T uc003qqx.2 + 14 2128 c.2022C>T c.(2020-2022)ttC>ttT p.F674F SYNJ2_uc003qqw.2_Silent_p.F674F|SYNJ2_uc003qqy.2_Silent_p.F437F|SYNJ2_uc003qqz.2_Silent_p.F291F|SYNJ2_uc003qra.2_Silent_p.F17F NM_003898 NP_001171559 O15056 SYNJ2_HUMAN Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA. 674 RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) GCTTCCAGTTCCACAGCACCA 0.587000 73 6 0 0 1 0 0 PPM1L 151742 broad.mit.edu 37 3 160786678 160786678 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:160786678G>A uc003fdr.3 + 3 917 c.816G>A c.(814-816)ctG>ctA p.L272L PPM1L_uc003fds.3_Silent_p.L93L|PPM1L_uc003fdt.3_Silent_p.L145L|PPM1L_uc010hwf.3_Non-coding_Transcript NM_139245 NP_640338 Q5SGD2 PPM1L_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA. 272 PP2C-like. protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) ATTATCCGCTGAAAAATCTCA 0.532000 37 4 0 0 1 0 0 LSM14A 26065 broad.mit.edu 37 19 34712476 34712476 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:34712476C>T uc002nvb.4 + 8 1397 c.1201C>T c.(1201-1203)Cgt>Tgt p.R401C LSM14A_uc002nva.4_Missense_Mutation_p.R401C|LSM14A_uc010xru.2_Missense_Mutation_p.R360C|LSM14A_uc002nvc.4_Missense_Mutation_p.R207C NM_001114093 NP_001107565 Q8ND56 LS14A_HUMAN Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA. 401 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) AATCCCACTTCGTCCAAACCG 0.507000 42 4 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105408781 105408781 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:105408781G>A uc010axc.1 - 6 13127 c.13007C>T c.(13006-13008)tCc>tTc p.S4336F AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S4236F NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 4336 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCCTGCATGGAGGGGAGGCT 0.617000 202 40 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62039877 62039877 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:62039877G>A uc002yey.1 - 15 1953 c.1776C>T c.(1774-1776)atC>atT p.I592I KCNQ2_uc002yez.1_Silent_p.I561I|KCNQ2_uc002yfa.1_Silent_p.I574I|KCNQ2_uc002yfb.1_Silent_p.I564I NM_172107 NP_742105 O43526 KCNQ2_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA. 592 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CCCGCCCCACGATCTGGTCCA 0.697000 19 4 0 0 1 0 0 SLC25A16 8034 broad.mit.edu 37 10 70263427 70263427 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:70263427G>A uc001joi.3 - 3 531 c.383C>T c.(382-384)tCa>tTa p.S128L SLC25A16_uc010qiy.2_Missense_Mutation_p.S30L|SLC25A16_uc001joj.3_Missense_Mutation_p.S30L NM_152707 NP_689920 P16260 GDC_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 (SLC25A16), nuclear gene encoding mitochondrial protein, mRNA. 128 coenzyme biosynthetic process|pantothenate metabolic process integral to membrane|mitochondrial inner membrane binding|solute:solute antiporter activity endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 7 CACATGACCTGAAATTCCCAG 0.294000 77 19 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44845482 44845482 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:44845482G>A uc002xrm.2 - 3 1220 c.821C>T c.(820-822)cCg>cTg p.P274L CDH22_uc010ghk.1_Missense_Mutation_p.P274L|CDH22_uc002xrn.2_Missense_Mutation_p.P25L NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN Homo sapiens cadherin 22, type 2 (CDH22), mRNA. 274 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) GAAACGGGGCGGGTTGTCATT 0.622000 93 6 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116445248 116445248 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:116445248C>A uc001tvw.3 - 10 2261 c.2206G>T c.(2206-2208)Ggg>Tgg p.G736W NM_015335 NP_056150 Q71F56 MD13L_HUMAN Homo sapiens mediator complex subunit 13-like (MED13L), mRNA. 736 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TTCTCCGTCCCTTGTTTGCAT 0.408000 27 4 0.150653 0.151351 1 1 0 PTBP2 58155 broad.mit.edu 37 1 97236284 97236284 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:97236284C>T uc001drq.3 + 4 555 c.309C>T c.(307-309)acC>acT p.T103T PTBP2_uc001drn.2_Silent_p.T103T|PTBP2_uc001dro.2_Silent_p.T103T|PTBP2_uc010otz.1_Silent_p.T114T|PTBP2_uc001drp.2_Non-coding_Transcript|PTBP2_uc009wdw.2_Silent_p.T51T|PTBP2_uc001drr.3_Silent_p.T103T|PTBP2_uc001dru.3_Non-coding_Transcript|PTBP2_uc001drm.2_Silent_p.T103T NM_021190 NP_067013 Q9UKA9 PTBP2_HUMAN Homo sapiens polypyrimidine tract binding protein 2 (PTBP2), mRNA. 103 RRM 1. nucleotide binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) AACTAGCAACCGAGGAAGCAG 0.303000 45 4 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47990955 47990955 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:47990955C>T uc002xur.1 - 1 1308 c.1142G>A c.(1141-1143)gGa>gAa p.G381E KCNB1_uc002xus.1_Missense_Mutation_p.G381E NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 381 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GTAGATGTCTCCATACCCAAC 0.512000 44 6 0 0 1 0 0 C8orf80 389643 broad.mit.edu 37 8 27888772 27888772 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:27888772G>A uc003xgm.4 - 14 2039 c.1896C>T c.(1894-1896)ttC>ttT p.F632F NM_001010906 NP_001010906 Q68CJ6 SLIP_HUMAN Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA. 632 nucleus GTP binding|GTPase activity p.N631H(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1) 35 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181) CCTGGATCAGGAAATTTTTTT 0.448000 118 11 0 0 1 0 0 FAM129A 116496 broad.mit.edu 37 1 184787863 184787863 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:184787863C>T uc001gra.3 - 8 1276 c.1082G>A c.(1081-1083)gGa>gAa p.G361E FAM129A_uc001grb.1_Missense_Mutation_p.G124E|FAM129A_uc009wyh.1_Missense_Mutation_p.G189E|FAM129A_uc009wyi.1_Missense_Mutation_p.G159E NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA. 361 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane p.S360*(1) autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 TTCACTGAATCCCGAGCTCAC 0.537000 106 5 0 0 1 0 0 MAT1A 4143 broad.mit.edu 37 10 82036269 82036269 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:82036269C>T uc001kbw.3 - 5 886 c.631G>A c.(631-633)Gaa>Aaa p.E211K NM_000429 NP_000420 Q00266 METK1_HUMAN Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA. 211 S-adenosylmethionine biosynthetic process|methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity p.E211K(2) endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GTGATGTCTTCGTTGTGCTGC 0.582000 106 8 0 0 1 0 0 KLHL31 401265 broad.mit.edu 37 6 53519866 53519866 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:53519866C>T uc003pcb.4 - 1 346 c.205G>A c.(205-207)Gag>Aag p.E69K NM_001003760 NP_001003760 Q9H511 KLH31_HUMAN Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA. 69 regulation of transcription, DNA-dependent|transcription, DNA-dependent autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3) 20 Lung NSC(77;0.0158) AGGAAGTTCTCCTGCCGCATT 0.428000 45 5 0 0 1 0 0 EXOSC10 5394 broad.mit.edu 37 1 11151152 11151152 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:11151152G>A uc001asa.3 - 4 612 c.562C>T c.(562-564)Cga>Tga p.R188* EXOSC10_uc001asb.3_Nonsense_Mutation_p.R188*|EXOSC10_uc009vmy.1_Nonsense_Mutation_p.R188* NM_001001998 NP_001001998 Q01780 EXOSX_HUMAN Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA. 188 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) ATCTTCTCTCGAAACTTGAGC 0.388000 82 35 0 0 1 0 0 HSF1 3297 broad.mit.edu 37 8 145532615 145532615 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:145532615C>T uc003zbt.4 + 1 311 c.141C>T c.(139-141)ttC>ttT p.F47F HSF1_uc003zbu.4_Non-coding_Transcript NM_005526 NP_005517 Q00613 HSF1_HUMAN Homo sapiens heat shock transcription factor 1 (HSF1), mRNA. 47 cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) TCCACGTGTTCGACCAGGGCC 0.627000 97 5 0 0 1 0 0 PRSS22 64063 broad.mit.edu 37 16 2905650 2905650 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:2905650G>A uc002cry.1 - 3 550 c.484C>T c.(484-486)Cta>Tta p.L162L NM_022119 NP_071402 Q9GZN4 BSSP4_HUMAN Homo sapiens protease, serine, 22 (PRSS22), mRNA. 162 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2) 10 GCATCAGGTAGGCAGATGGGC 0.592000 72 9 0 0 1 0 0 WNT10A 80326 broad.mit.edu 37 2 219757816 219757817 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:219757816_219757817CC>TT uc002vjd.1 + 3 1540_1541 c.1077_1078CC>TT c.(1075-1080)ggccgc>ggTTgc p.R360C NM_025216 NP_079492 Q9GZT5 WN10A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA. 360 R -> C (found in a patient with unclassified form of ectodermal dysplasia). Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2) 12 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCACCGTGGGCCGCCTGTGCAA 0.728000 30 11 0 0 1 0 0 DPYSL2 1808 broad.mit.edu 37 8 26501100 26501100 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:26501100C>T uc003xfb.2 + 8 1388 c.957C>T c.(955-957)tcC>tcT p.S319S DPYSL2_uc003xfa.3_Silent_p.S424S|DPYSL2_uc011lag.2_Silent_p.S319S|DPYSL2_uc011lah.2_Silent_p.S283S NM_001386 NP_001377 Q16555 DPYL2_HUMAN Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA. 319 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) TTCTCAACTCCTTGCTGTCCT 0.532000 48 10 0 0 1 0 0 PROX1 5629 broad.mit.edu 37 1 214209112 214209112 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:214209112C>T uc001hkh.3 + 4 2421 c.2149C>T c.(2149-2151)Ctg>Ttg p.L717L NM_002763 NP_002754 Q92786 PROX1_HUMAN Homo sapiens prospero homeobox 1 (PROX1), mRNA. 717 Prospero-like. aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CATCTGCAAGCTGGATAGTGA 0.418000 36 12 0 0 1 0 0 SLC25A47 283600 broad.mit.edu 37 14 100793550 100793550 + Missense_Mutation SNP C T T rs117307527 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:100793550C>T uc001yhc.3 + 3 243 c.170C>T c.(169-171)tCg>tTg p.S57L SLC25A47_uc001yhd.3_5'UTR NM_207117 NP_997000 Q6Q0C1 S2547_HUMAN Homo sapiens solute carrier family 25, member 47 (SLC25A47), nuclear gene encoding mitochondrial protein, mRNA. 57 transmembrane transport integral to membrane|mitochondrial inner membrane binding p.S57L(2) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 13 CGGGGCCTCTCGCTGCCCGTG 0.672000 122 6 0 0 1 0 0 KLK14 43847 broad.mit.edu 37 19 51582786 51582786 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:51582786G>A uc021uyk.1 - 4 653 c.434C>T c.(433-435)cCc>cTc p.P145L KLK14_uc002pvs.1_Missense_Mutation_p.P145L NM_022046 NP_071329 Q9P0G3 KLK14_HUMAN Homo sapiens kallikrein-related peptidase 14 (KLK14), mRNA. 145 Peptidase S1. epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction extracellular space serine-type endopeptidase activity kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 11 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422) GACCTCAATGGGCCTGACTGC 0.647000 36 4 0 0 1 0 0 ATP2A3 489 broad.mit.edu 37 17 3844561 3844561 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:3844561G>A uc002fwy.2 - 13 1977 c.1804C>T c.(1804-1806)Ccg>Tcg p.P602S ATP2A3_uc002fwz.2_Missense_Mutation_p.P602S|ATP2A3_uc002fxa.2_Missense_Mutation_p.P602S|ATP2A3_uc002fxb.2_Missense_Mutation_p.P602S|ATP2A3_uc002fxc.2_Missense_Mutation_p.P602S|ATP2A3_uc002fxd.2_Missense_Mutation_p.P602S|ATP2A3_uc002fwx.2_Missense_Mutation_p.P602S NM_174953 NP_777613 Q93084 AT2A3_HUMAN Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA. 602 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) GGTCGCGGCGGGTCCAGCATG 0.647000 61 6 0 0 1 0 0 SLC28A2 9153 broad.mit.edu 37 15 45561593 45561593 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:45561593G>A uc001zva.2 + 13 1491 c.1426G>A c.(1426-1428)Gac>Aac p.D476N NM_004212 NP_004203 O43868 S28A2_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA. 476 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) AGAGTGGACAGACTGTCCAAT 0.438000 47 6 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 2942450 2942450 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:2942450G>A uc003bpc.3 + 10 1361 c.1022G>A c.(1021-1023)gGa>gAa p.G341E CNTN4_uc003bpb.1_Missense_Mutation_p.G13E|CNTN4_uc021wsg.1_Missense_Mutation_p.G341E|CNTN4_uc003bpd.1_Missense_Mutation_p.G341E|CNTN4_uc003bpe.3_Missense_Mutation_p.G13E|CNTN4_uc003bpf.3_Missense_Mutation_p.G13E NM_175607 NP_783302 Q8IWV2 CNTN4_HUMAN Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. 341 Ig-like C2-type 4. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AAAGCAAATGGAAGGCCTAAG 0.388000 30 5 0 0 1 0 0 RNASE1 6035 broad.mit.edu 37 14 21270057 21270057 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:21270057C>T uc021rop.1 - 0 171 c.171G>A c.(169-171)atG>atA p.M57I RNASE1_uc001vyf.3_Missense_Mutation_p.M57I|RNASE1_uc001vyg.3_Missense_Mutation_p.M57I|RNASE1_uc001vyh.3_Missense_Mutation_p.M57I|RNASE1_uc001vyi.3_Missense_Mutation_p.M57I NM_198235 NP_937878 P07998 RNAS1_HUMAN Homo sapiens ribonuclease, RNase A family, 1 (pancreatic) (RNASE1), transcript variant 1, mRNA. 57 extracellular region nucleic acid binding|pancreatic ribonuclease activity|protein binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 5 all_cancers(95;0.00671) all_lung(585;0.235) Epithelial(56;9.21e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0126) GGCGCCTCATCATTTGGTTAC 0.552000 50 12 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21238062 21238062 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:21238062G>A uc002red.3 - 22 3707 c.3579C>T c.(3577-3579)ttC>ttT p.F1193F NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1193 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GATCCACAGGGAAATTGGAAG 0.408000 349 150 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32035753 32035753 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:32035753C>T uc003nzl.2 - 17 6431 c.6229G>A c.(6229-6231)Gaa>Aaa p.E2077K NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 2155 Fibronectin type-III 13. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGGGTCTCTTCCTCTGCAGCT 0.632000 285 17 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65271728 65271728 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:65271728C>T uc001xht.3 - 1 280 c.229G>A c.(229-231)Gat>Aat p.D77N SPTB_uc001xhr.3_Missense_Mutation_p.D77N|SPTB_uc001xhs.3_Missense_Mutation_p.D77N|SPTB_uc001xhu.3_Missense_Mutation_p.D77N NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 77 Actin-binding.|CH 1. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton p.D77N(2) breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TTGTAGAGATCGGTGATGCGG 0.567000 69 5 0 0 1 0 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253682 32253682 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:32253682G>A uc002yov.3 - 0 193 c.162C>T c.(160-162)gaC>gaT p.D54D NM_175858 NP_787054 Q8IUC1 KR111_HUMAN Homo sapiens keratin associated protein 11-1 (KRTAP11-1), mRNA. 54 keratin filament structural molecule activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1) 18 CTTGACAGTGGTCCAGGAGCC 0.577000 26 10 0 0 1 0 0 POLG2 11232 broad.mit.edu 37 17 62486935 62486935 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:62486935G>A uc002jei.3 - 3 1045 c.947C>T c.(946-948)cCt>cTt p.P316L POLG2_uc021ubq.1_Missense_Mutation_p.P49L|POLG2_uc010deg.2_Missense_Mutation_p.P316L NM_007215 NP_009146 Q9UHN1 DPOG2_HUMAN Homo sapiens polymerase (DNA directed), gamma 2, accessory subunit (POLG2), nuclear gene encoding mitochondrial protein, mRNA. 316 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1) 15 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) CACATTGCCAGGATACATGTG 0.383000 43 5 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140564092 140564092 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140564092C>T uc003liv.3 + 0 3113 c.1958C>T c.(1957-1959)tCg>tTg p.S653L PCDHB9_uc003liw.1_5'Flank NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN Homo sapiens protocadherin beta 16 (PCDHB16), mRNA. 653 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTCCGCGCTCGGCCACCGCC 0.711000 64 6 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31313513 31313513 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:31313513C>T uc003jhe.2 + 7 1702 c.1342C>T c.(1342-1344)Cga>Tga p.R448* CDH6_uc003jhd.2_Nonsense_Mutation_p.R448* NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 448 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ACTTCTTGACCGAGAAACACT 0.413000 51 7 0 0 1 0 0 abParts 0 broad.mit.edu 37 22 22550623 22550623 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:22550623G>A uc021wml.1 + 14 c.1434G>A Parts of antibodies, mostly variable regions. TCTCTGGACTGAAGACTGAGG 0.532000 50 5 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34874044 34874044 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:34874044C>T uc003teh.1 + 5 857 c.729C>T c.(727-729)acC>acT p.T243T NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.T243T|NPSR1_uc010kwt.1_Silent_p.T90T|NPSR1_uc010kwu.1_Silent_p.T33T|NPSR1_uc010kwv.1_Silent_p.T177T|NPSR1_uc003tei.1_Silent_p.T243T|NPSR1_uc010kww.1_Silent_p.T232T|NPSR1_uc011kar.1_Silent_p.T177T|NPSR1-AS1_uc010kwy.3_5'Flank|NPSR1-AS1_uc003tek.4_5'Flank NM_207173 NP_997056 Q6W5P4 NPSR1_HUMAN Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA. 243 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) AAAGCAAAACCTACGAAACAG 0.418000 17 5 0 0 1 0 0 CALB1 793 broad.mit.edu 37 8 91072412 91072412 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:91072412C>T uc003yel.1 - 10 957 c.775G>A c.(775-777)Ggg>Agg p.G259R CALB1_uc011lge.1_Missense_Mutation_p.G202R NM_004929 NP_004920 P05937 CALB1_HUMAN Homo sapiens calbindin 1, 28kDa (CALB1), mRNA. 259 nucleus calcium ion binding|vitamin D binding breast(1)|kidney(1)|lung(8)|pancreas(1) 11 BRCA - Breast invasive adenocarcinoma(11;0.00953) TAGTTATCCCCAGCACAGAGA 0.393000 24 6 0 0 1 0 0 MDH1 4190 broad.mit.edu 37 2 63834042 63834042 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:63834042C>T uc010ypv.2 + 8 1157 c.980C>T c.(979-981)tCa>tTa p.S327L MDH1_uc002scj.2_Missense_Mutation_p.S309L|MDH1_uc010ypw.2_Missense_Mutation_p.S220L NM_001199111 NP_001186040 P40925 MDHC_HUMAN Homo sapiens malate dehydrogenase 1, NAD (soluble) (MDH1), transcript variant 1, mRNA. 309 gluconeogenesis|tricarboxylic acid cycle centrosome|cytosol L-malate dehydrogenase activity|malic enzyme activity p.A327A(1) endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4) 13 NADH(DB00157) AATGATTTCTCACGTGAGAAG 0.343000 49 10 0 0 1 0 0 TMEM176A 55365 broad.mit.edu 37 7 150499303 150499303 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:150499303G>A uc003whx.1 + 3 253 c.175_splice c.e3-1 p.V59_splice TMEM176B_uc003whu.4_5'Flank|TMEM176B_uc003whv.4_5'Flank|TMEM176B_uc003whw.4_5'Flank NM_018487 NP_060957 Q96HP8 T176A_HUMAN Homo sapiens transmembrane protein 176A (TMEM176A), mRNA. 59 integral to membrane breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGTCTTTCAGGTGATGCAGAT 0.547000 64 7 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43762574 43762574 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:43762574G>A uc002owd.4 - 4 1122 c.1023C>T c.(1021-1023)ttC>ttT p.F341F PSG9_uc002owe.4_Silent_p.F248F|PSG9_uc010xwm.2_Silent_p.F248F|PSG9_uc002owf.4_Silent_p.F155F|PSG9_uc002owg.2_Silent_p.F248F NM_002784 NP_002775 Q00887 PSG9_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA. 341 Ig-like C2-type 3. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GGTAATAGGTGAATGAAGGGT 0.463000 134 8 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128411004 128411004 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:128411004G>A uc003qbk.3 - 7 1663 c.1296C>T c.(1294-1296)ttC>ttT p.F432F PTPRK_uc010kfc.3_Silent_p.F432F|PTPRK_uc003qbj.3_Silent_p.F432F|PTPRK_uc011ebu.2_Silent_p.F432F|PTPRK_uc003qbl.1_Silent_p.F302F|PTPRK_uc011ebv.1_Silent_p.F432F NM_002844 NP_002835 Q15262 PTPRK_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA. 432 Fibronectin type-III 2. cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TGTGACCACGGAAGTAATGGT 0.483000 22 3 0 0 1 0 0 DPF3 8110 broad.mit.edu 37 14 73181206 73181206 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:73181206G>A uc001xnc.2 - 5 542 c.529C>T c.(529-531)Cgc>Tgc p.R177C DPF3_uc001xnd.1_Non-coding_Transcript|DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Missense_Mutation_p.R177C|DPF3_uc010ttq.1_Missense_Mutation_p.R187C NM_012074 NP_036206 Q92784 DPF3_HUMAN Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA. 177 R -> H (in dbSNP:rs17855717). chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GCAGAGCCGCGAGCCTGGGGA 0.597000 57 5 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45392330 45392330 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:45392330G>A uc001zun.3 - 23 3305 c.3102C>T c.(3100-3102)ttC>ttT p.F1034F DUOX2_uc010bea.3_Silent_p.F1034F NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 1034 Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) AGTTCTCCACGAAGCGCTTGT 0.562000 38 7 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47202212 47202212 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:47202212C>T uc010fbb.3 + 3 986 c.618C>T c.(616-618)atC>atT p.I206I TTC7A_uc002rvm.3_Silent_p.I172I|TTC7A_uc002rvn.1_Silent_p.I87I|TTC7A_uc002rvo.3_Silent_p.I206I|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_Silent_p.I87I NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA. 206 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) CCTCCTGGATCGCTCAGGTGT 0.547000 119 7 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42361077 42361077 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:42361077G>A uc001wvm.3 + 3 3208 c.2010G>A c.(2008-2010)agG>agA p.R670R LRFN5_uc010ana.3_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA. 670 integral to membrane p.N669N(1)|p.N669K(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) ACACTAACAGGAACAACTCAA 0.453000 HNSCC(30;0.082) 38 5 0 0 1 0 0 TUBB4A 10382 broad.mit.edu 37 19 6495472 6495472 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:6495472G>A uc002mfg.1 - 3 1145 c.1038C>T c.(1036-1038)ccC>ccT p.P346P TUBB4A_uc002mff.1_Silent_p.P274P|JA429441_uc021unq.1_5'Flank NM_006087 NP_006078 P04350 TBB4_HUMAN Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA. 346 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity TCACGTTGTTGGGGATCCACT 0.632000 207 35 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120329 38120329 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:38120329C>T uc003atr.3 + 6 2037 c.1766C>T c.(1765-1767)tCt>tTt p.S589F TRIOBP_uc003atu.3_Missense_Mutation_p.S417F|TRIOBP_uc003atq.1_Missense_Mutation_p.S589F|TRIOBP_uc003ats.1_Missense_Mutation_p.S417F NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 589 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AGAGCCTCCTCTCCCAATAGA 0.582000 163 24 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207758215 207758215 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:207758215C>T uc001hfy.3 + 24 4314 c.4174C>T c.(4174-4176)Cgt>Tgt p.R1392C CR1_uc009xcl.1_Missense_Mutation_p.R942C|CR1_uc001hfx.3_Missense_Mutation_p.R1842C|CR1_uc021pij.1_Missense_Mutation_p.R1392C NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 1392 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 ACTTTCTGTTCGTGCTGGTCA 0.488000 20 4 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47991175 47991175 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:47991175G>A uc002xur.1 - 1 1088 c.922C>T c.(922-924)Ctt>Ttt p.L308F KCNB1_uc002xus.1_Missense_Mutation_p.L308F NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 308 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCAAGCTTAAGGATGCGGAGA 0.547000 58 5 0 0 1 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72468481 72468481 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:72468481C>T uc001jrg.3 + 3 817 c.817C>T c.(817-819)Cgc>Tgc p.R273C ADAMTS14_uc001jrh.3_Missense_Mutation_p.R273C NM_139155 NP_631894 Q8WXS8 ATS14_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA. 273 Peptidase M12B. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.V272L(1) NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 CTCGGTGGTTCGCTTCCATGG 0.617000 88 12 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38702323 38702323 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:38702323G>A uc021yzh.1 + 4 793 c.684G>A c.(682-684)ccG>ccA p.P228P DNAH8_uc003ooe.2_Silent_p.P11P NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. p.P11P(1) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATGCAGCCCCGGATAAACTAA 0.353000 36 5 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27005189 27005189 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:27005189C>T uc010crt.3 + 9 1287 c.1095C>T c.(1093-1095)ttC>ttT p.F365F SUPT6H_uc002hby.3_Silent_p.F365F NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA. 365 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CCCTGGGCTTCATGCGAAATC 0.488000 48 5 0 0 1 0 0 HMBS 3145 broad.mit.edu 37 11 118963727 118963727 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:118963727C>T uc001puz.1 + 12 1065 c.908C>T c.(907-909)gCc>gTc p.A303V HMBS_uc001pva.1_Missense_Mutation_p.A263V|HMBS_uc001pve.1_Missense_Mutation_p.A246V|HMBS_uc001pvf.1_Missense_Mutation_p.A286V NM_000190 NP_001019553 P08397 HEM3_HUMAN Homo sapiens hydroxymethylbilane synthase (HMBS), transcript variant 1, mRNA. 303 peptidyl-pyrromethane cofactor linkage cytosol hydroxymethylbilane synthase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 15 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) CATGTCCCTGCCCAGGTACCA 0.502000 48 6 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3102760 3102760 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:3102760G>A uc001akf.3 + 1 191 c.109G>A c.(109-111)Gag>Aag p.E37K PRDM16_uc001ake.3_Missense_Mutation_p.E37K|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Missense_Mutation_p.E37K NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 37 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CGCGGAGGACGAGGCCGAGGA 0.637000 T EVI1 """MDS, AML""" 78 6 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128490512 128490512 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:128490512C>T uc003vnz.4 + 31 5582 c.5373C>T c.(5371-5373)ttC>ttT p.F1791F FLNC_uc003voa.4_Silent_p.F1758F NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 1791 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TCATCCCCTTCGCGGTGCAGA 0.607000 126 15 0 0 1 0 0 FAM20B 9917 broad.mit.edu 37 1 179023749 179023749 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:179023749C>T uc001gmc.3 + 3 843 c.550C>T c.(550-552)Ctg>Ttg p.L184L NM_014864 NP_055679 O75063 XYLK_HUMAN Homo sapiens family with sequence similarity 20, member B (FAM20B), mRNA. 184 Golgi membrane|integral to membrane ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3) 14 CACAGAGCAGCTGTTGAGCAC 0.448000 34 4 0 0 1 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378687 31378687 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:31378687C>T uc003tch.3 - 1 549 c.196G>A c.(196-198)Gaa>Aaa p.E66K NEUROD6_uc022abi.1_Missense_Mutation_p.E66K NM_022728 NP_073565 Q96NK8 NDF6_HUMAN Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA. 66 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 tcttcctcttccctgtcttcc 0.468000 94 14 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216462752 216462752 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:216462752C>T uc001hku.1 - 11 2228 c.1841_splice c.e11-1 p.G614_splice USH2A_uc001hkv.3_Splice_Site_p.G614_splice NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 614 Laminin EGF-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACAGTTCCTTCCTGCATCAGG 0.393000 HNSCC(13;0.011) 42 8 0 0 1 0 0 ACPP 55 broad.mit.edu 37 3 132071590 132071590 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:132071590G>A uc010htp.2 + 8 981 c.891G>A c.(889-891)caG>caA p.Q297Q ACPP_uc003eon.3_Silent_p.Q264Q|ACPP_uc003eop.4_Silent_p.Q297Q NM_001099 NP_001090 P15309 PPAP_HUMAN Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA. 297 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 GTGGCCTACAGATGGCGCTAG 0.433000 23 6 0 0 1 0 0 FUT8 2530 broad.mit.edu 37 14 66200031 66200031 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:66200031C>T uc001xin.3 + 9 3069 c.1342C>T c.(1342-1344)Cgt>Tgt p.R448C FUT8_uc001xio.3_Missense_Mutation_p.R448C|FUT8_uc010tsp.2_Missense_Mutation_p.R285C|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Missense_Mutation_p.R448C|FUT8_uc001xiq.3_Missense_Mutation_p.R319C|FUT8_uc021ruy.1_Missense_Mutation_p.R319C NM_178155 NP_004471 Q9BYC5 FUT8_HUMAN Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA. 448 L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi Golgi cisterna membrane|integral to membrane SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) AAATTCACTTCGTGGAGTGAT 0.368000 41 5 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227963492 227963492 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:227963492G>A uc021vxr.1 - 17 1223 c.1122C>T c.(1120-1122)ttC>ttT p.F374F COL4A4_uc021vxs.1_Silent_p.F374F NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 374 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AGCGGCCAGGGAACCCTGGGT 0.502000 29 4 0 0 1 0 0 XCR1 2829 broad.mit.edu 37 3 46062607 46062607 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:46062607G>A uc003cpe.3 - 2 1057 c.833C>T c.(832-834)tCc>tTc p.S278F AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Missense_Mutation_p.S278F|XCR1_uc021wwx.1_Missense_Mutation_p.S278F NM_005283 NP_005274 P46094 XCR1_HUMAN Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA. 278 G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response integral to plasma membrane chemokine receptor activity NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) GCAGCAGTGGGAGAAGGCGAG 0.577000 25 5 0 0 1 0 0 CD177 57126 broad.mit.edu 37 19 43857890 43857890 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:43857890C>T uc002owi.3 + 0 66 c.24C>T c.(22-24)gcC>gcT p.A8A CD177_uc021uvf.1_Silent_p.A8A|CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript NM_020406 NP_065139 Q8N6Q3 CD177_HUMAN Homo sapiens CD177 molecule (CD177), mRNA. 8 blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) TACTGCTGGCCCTCCTGGGGT 0.562000 109 7 0 0 1 0 0 ABHD16A 7920 broad.mit.edu 37 6 31656823 31656824 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31656823_31656824GG>AA uc003nvy.2 - 12 1233_1234 c.1154_1155CC>TT c.(1153-1155)ccc>cTT p.P385L ABHD16A_uc003nvx.2_Missense_Mutation_p.P166L|ABHD16A_uc011dny.2_Missense_Mutation_p.P352L|ABHD16A_uc010jtc.2_Missense_Mutation_p.P166L|ABHD16A_uc011dnz.2_Missense_Mutation_p.P166L NM_021160 NP_066983 O95870 ABHGA_HUMAN Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA. 385 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 TCAAGGCCAAGGGCACCAGGTC 0.584000 193 11 0 0 1 0 0 CHRM1 1128 broad.mit.edu 37 11 62677792 62677792 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:62677792G>A uc021qko.1 - 0 781 c.781C>T c.(781-783)Cgc>Tgc p.R261C CHRM1_uc001nwi.3_Missense_Mutation_p.R261C NM_000738 NP_000729 P11229 ACM1_HUMAN Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA. 261 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding large_intestine(5)|lung(3)|stomach(1) 9 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209) CGGCAGCAGCGACAGCAGCGG 0.652000 109 12 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43817099 43817099 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:43817099G>A uc001zrt.3 + 3 3895 c.3428G>A c.(3427-3429)cGa>cAa p.R1143Q NM_002373 NP_002364 P78559 MAP1A_HUMAN Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA. 1143 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity p.R1143R(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TATCCTGACCGAAGCCTCTCT 0.572000 55 5 0 0 1 0 0 MIXL1 83881 broad.mit.edu 37 1 226413481 226413481 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:226413481G>A uc010pvm.2 + 1 667 c.667G>A c.(667-669)Gaa>Aaa p.E223K NM_031944 NP_114150 Q9H2W2 MIXL1_HUMAN Homo sapiens Mix paired-like homeobox (MIXL1), mRNA. 223 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.109) CTCATGGGAGGAACACATCTT 0.498000 153 7 0 0 1 0 0 KIAA0232 9778 broad.mit.edu 37 4 6863957 6863957 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:6863957C>T uc003gjr.4 + 6 2311 c.1848C>T c.(1846-1848)ccC>ccT p.P616P KIAA0232_uc003gjq.4_Silent_p.P616P NM_014743 NP_055558 Q92628 K0232_HUMAN Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA. 616 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 GACTCTCTCCCATCTTAGACA 0.463000 18 4 0 0 1 0 0 CYP2B7P1 1556 broad.mit.edu 37 19 41447273 41447273 + Missense_Mutation SNP G A A rs34110144 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:41447273G>A uc010ehh.1 + 4 726 c.718G>A c.(718-720)Gaa>Aaa p.E240K CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc002opq.3_Non-coding_Transcript Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA. NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 AAACCTACAGGAAATCAATGC 0.517000 100 5 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179665314 179665315 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:179665314_179665315GG>AA uc021vsy.1 - 3 615_616 c.390_391CC>TT c.(388-393)atccct>atTTct p.P131S TTN_uc021vsz.1_Missense_Mutation_p.P131S|TTN_uc021vta.1_Missense_Mutation_p.P131S|TTN_uc021vtb.1_Missense_Mutation_p.P131S|TTN_uc002unb.2_Missense_Mutation_p.P131S|TTN_uc002und.3_Missense_Mutation_p.P131S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 131 Ig-like 2. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAGGTGTAGGGATTCCAGTCA 0.520000 76 10 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61570796 61570796 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:61570796G>A uc002jau.2 + 20 2947 c.2913_splice c.e20-1 p.R971_splice ACE_uc010wpj.2_Splice_Site_p.R397_splice|ACE_uc010ddv.2_Splice_Site_p.R198_splice|ACE_uc002jav.2_Splice_Site_p.R397_splice|ACE_uc002jaw.2_Splice_Site|ACE_uc010wpk.2_Splice_Site_p.R217_splice NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 971 Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) ACTATTCCTAGGATCAAGCAG 0.562000 85 13 0 0 1 0 0 FAM117B 150864 broad.mit.edu 37 2 203621973 203621973 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:203621973C>T uc010zhx.2 + 5 1152 c.1142C>T c.(1141-1143)cCc>cTc p.P381L NM_173511 NP_775782 Q6P1L5 F117B_HUMAN Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA. 381 breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 GCTCCACCCCCCCTTGTACAG 0.493000 226 19 0 0 1 0 0 SCUBE2 57758 broad.mit.edu 37 11 9069588 9069588 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:9069588C>T uc001mhi.2 - 14 1772 c.1697G>A c.(1696-1698)gGc>gAc p.G566D SCUBE2_uc021qdk.1_5'UTR|SCUBE2_uc001mhj.2_Intron NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA. 537 extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) GACTTGCTTGCCAGAGCTGCA 0.468000 253 17 0 0 1 0 0 RBPJ 3516 broad.mit.edu 37 4 26431630 26431630 + Silent SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:26431630T>C uc003grx.2 + 9 1274 c.1038T>C c.(1036-1038)ccT>ccC p.P346P RBPJ_uc003gry.2_Silent_p.P331P|RBPJ_uc003grz.2_Silent_p.P346P|RBPJ_uc011bxt.2_Silent_p.P346P|RBPJ_uc003gsa.2_Silent_p.P332P|RBPJ_uc003gsb.2_Silent_p.P333P NM_005349 NP_005340 Q06330 SUH_HUMAN Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA. 346 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1) 15 Breast(46;0.0503) GAATGGGCCCTGTCCTTGCCC 0.483000 19 3 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54586244 54586244 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:54586244G>A uc021smr.1 + 8 3964 c.3964G>A c.(3964-3966)Gat>Aat p.D1322N UNC13C_uc021sms.1_Missense_Mutation_p.D1324N|UNC13C_uc002acl.3_Missense_Mutation_p.D154N NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 1324 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.G1321*(1) breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGGAGAAATGGATGTCTGGTA 0.348000 73 22 0 0 1 0 0 OSBPL10 114884 broad.mit.edu 37 3 31725315 31725315 + Missense_Mutation SNP C T T rs140782910 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:31725315C>T uc021wuu.1 - 7 2208 c.1537G>A c.(1537-1539)Gaa>Aaa p.E513K OSBPL10_uc003ceu.1_Missense_Mutation_p.E270K|OSBPL10_uc011axf.2_Missense_Mutation_p.E449K NM_017784 NP_060254 Q9BXB5 OSB10_HUMAN Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA. 513 lipid transport lipid binding p.E513K(3)|p.E513*(3) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) ATTGGGTGTTCGTGACAGCTG 0.542000 74 10 0 0 1 0 0 ATP6AP1 537 broad.mit.edu 37 X 153657475 153657475 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:153657475C>T uc004flf.1 + 1 304 c.243C>T c.(241-243)gcC>gcT p.A81A BC009467_uc004fld.4_5'Flank|ATP6AP1_uc004flg.1_Non-coding_Transcript|ATP6AP1_uc004flh.1_Silent_p.A41A NM_001183 NP_001174 Q15904 VAS1_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1 (ATP6AP1), mRNA. 81 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5) 14 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TAGATCCCGCCCTGGAGCTGG 0.652000 62 11 0 0 1 0 0 TCF21 6943 broad.mit.edu 37 6 134210883 134210883 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:134210883C>T uc003qei.4 + 0 625 c.348C>T c.(346-348)tcC>tcT p.S116S BC041459_uc003qeg.1_5'Flank|TCF21_uc003qej.2_Silent_p.S116S NM_003206 NP_938206 O43680 TCF21_HUMAN Homo sapiens transcription factor 21 (TCF21), transcript variant 2, mRNA. 116 Helix-loop-helix motif. branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus E-box binding|androgen receptor binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) CCAAGCTCTCCAAGCTGGACA 0.632000 94 11 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39553626 39553626 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39553626C>T uc002hwn.3 - 0 219 c.166G>A c.(166-168)Gag>Aag p.E56K KRT31_uc010cxn.3_Missense_Mutation_p.E56K NM_002277 NP_002268 Q15323 K1H1_HUMAN Homo sapiens keratin 31 (KRT31), mRNA. 56 Head. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) GTCTCCTTCTCGCTACCATTG 0.627000 96 20 0 0 1 0 0 FA2H 79152 broad.mit.edu 37 16 74760214 74760214 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:74760214G>A uc002fde.2 - 3 598 c.522C>T c.(520-522)atC>atT p.I174I FA2H_uc010vmy.2_Intron NM_024306 NP_077282 Q7L5A8 FA2H_HUMAN Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA. 174 cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport endoplasmic reticulum membrane|integral to membrane|microsome heme binding|oxidoreductase activity endometrium(2)|large_intestine(4)|lung(3)|skin(1) 10 GCACCCAGATGATGGGGACAC 0.507000 49 8 0 0 1 0 0 ZXDB 158586 broad.mit.edu 37 X 57619841 57619841 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:57619841T>A uc004dvd.3 + 0 1573 c.1360T>A c.(1360-1362)Ttc>Atc p.F454I NM_007157 NP_009088 P98169 ZXDB_HUMAN Homo sapiens zinc finger, X-linked, duplicated B (ZXDB), mRNA. 454 Required for interaction with ZXDC (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 CGAGAGACCTTTCCTTTGTGA 0.493000 60 8 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22291893 22291893 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:22291893G>A uc001mqi.2 + 17 2251 c.1934G>A c.(1933-1935)cGg>cAg p.R645Q ANO5_uc001mqj.2_Missense_Mutation_p.R644Q NM_213599 NP_998764 Q75V66 ANO5_HUMAN Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA. 645 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CGAAAAGCTCGGACAAACTCT 0.413000 27 7 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56822103 56822104 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:56822103_56822104GG>AA uc001slf.2 - 12 1662_1663 c.1494_1495CC>TT c.(1492-1497)ttcctt>ttTTtt p.L499F TIMELESS_uc001slg.2_Missense_Mutation_p.L498F NM_003920 NP_003911 Q9UNS1 TIM_HUMAN Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA. 499 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 AGGTCACGAAGGAAAGAGCGGG 0.525000 42 9 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52255442 52255442 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:52255442C>T uc003ddb.3 - 4 3391 c.3181G>A c.(3181-3183)Gac>Aac p.D1061N TLR9_uc003dda.2_Missense_Mutation_p.D964N NM_017442 NP_059138 Q9NR96 TLR9_HUMAN Homo sapiens toll-like receptor 9 (TLR9), mRNA. 964 I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) ACCACGACGTCCTTGCGGTCC 0.701000 49 6 0 0 1 0 0 MSH2 4436 broad.mit.edu 37 2 47690209 47690209 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:47690209C>T uc002rvy.1 + 8 1494 c.1426C>T c.(1426-1428)Cct>Tct p.P476S MSH2_uc010yoh.1_Missense_Mutation_p.P410S|MSH2_uc002rvz.3_Missense_Mutation_p.P476S|MSH2_uc010fbg.2_Missense_Mutation_p.P286S|MSH2_uc010fbh.1_Non-coding_Transcript|MSH2_uc010fbi.1_Non-coding_Transcript NM_000251 NP_000242 P43246 MSH2_HUMAN Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA. 476 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTCATTTGATCCTAATCTCAG 0.333000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 52 5 0 0 1 0 0 TMEM159 57146 broad.mit.edu 37 16 21181905 21181905 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:21181905C>T uc010vbf.2 + 3 570 c.316C>T c.(316-318)Ctg>Ttg p.L106L TMEM159_uc002dih.4_Silent_p.L82L|TMEM159_uc002dif.4_Silent_p.L82L|TMEM159_uc002dig.4_Non-coding_Transcript NM_020422 NP_065155 Q96B96 TM159_HUMAN Homo sapiens transmembrane protein 159 (TMEM159), mRNA. 82 integral to membrane large_intestine(3)|lung(2)|ovary(1) 6 GBM - Glioblastoma multiforme(48;0.0972) GGCTGCTCTGCTGGGGGTCAT 0.458000 80 6 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42002918 42002918 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:42002918C>T uc010ucy.2 + 7 2636 c.2455C>T c.(2455-2457)Cgt>Tgt p.R819C MGA_uc001zog.1_Missense_Mutation_p.R819C|MGA_uc010ucz.2_Missense_Mutation_p.R819C NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA. 819 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) ACTGAAAAATCGTTCTGCTTT 0.343000 20 4 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9005594 9005594 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9005594G>A uc002mkp.3 - 45 40016 c.39812C>T c.(39811-39813)cCc>cTc p.P13271L MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.P88L|MUC16_uc021uog.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13273 SEA 8. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGGGTGTAGGGTCCCAGCTC 0.547000 64 9 0 0 1 0 0 LGR6 59352 broad.mit.edu 37 1 202288065 202288065 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:202288065C>T uc001gxu.3 + 17 2634 c.2634C>T c.(2632-2634)ctC>ctT p.L878L LGR6_uc001gxv.3_Silent_p.L826L|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.L739L NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA. 878 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 ATGTGGATCTCATTCTGGAAG 0.637000 103 6 0 0 1 0 0 TRIL 9865 broad.mit.edu 37 7 28997066 28997066 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:28997066G>A uc003szt.3 - 2 961 c.594C>T c.(592-594)ttC>ttT p.F198F DQ601810_uc003szu.1_5'Flank NM_014817 NP_055632 Q7L0X0 TRIL_HUMAN Homo sapiens TLR4 interactor with leucine-rich repeats (TRIL), mRNA. 199 inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway lipopolysaccharide receptor complex lipopolysaccharide binding CTAGCTGGGCGAAGGCGTTCT 0.662000 91 8 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44073309 44073309 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:44073309C>T uc002rtq.3 + 2 271 c.181C>T c.(181-183)Cag>Tag p.Q61* ABCG8_uc010yoa.2_Nonsense_Mutation_p.Q61* NM_022437 NP_071882 Q9H221 ABCG8_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA. 61 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CCTGGCCTCTCAGGTCCCTTG 0.527000 136 77 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197183807 197183807 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:197183807G>A uc002utm.1 - 8 1990 c.1807C>T c.(1807-1809)Cag>Tag p.Q603* HECW2_uc002utl.1_Nonsense_Mutation_p.Q247* NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 603 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 TCAGAGCCCTGATCGAGAGAC 0.587000 31 4 0 0 1 0 0 DDC 1644 broad.mit.edu 37 7 50537852 50537852 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:50537852C>T uc003tpg.4 - 11 1260 c.1059G>A c.(1057-1059)ctG>ctA p.L353L DDC_uc022ade.1_Silent_p.L275L|DDC_uc003tpf.4_Silent_p.L353L|DDC_uc022adb.1_Silent_p.L315L|DDC_uc022adc.1_Silent_p.L305L|DDC_uc022add.1_Silent_p.L260L NM_001082971 NP_001076440 P20711 DDC_HUMAN Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA. 353 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) ATCTTCTGCCCAGTGGTATCT 0.418000 43 14 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46365616 46365616 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:46365616G>A uc002xto.3 - 2 576 c.246C>T c.(244-246)ttC>ttT p.F82F SULF2_uc002xtr.3_Silent_p.F82F|SULF2_uc002xtq.3_Silent_p.F82F|SULF2_uc010ghv.1_Silent_p.F82F NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA. 82 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway Golgi stack|cell surface|endoplasmic reticulum|extracellular space arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 GTGTGGTCACGAAGGCGTTGA 0.582000 44 10 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10465046 10465046 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:10465046C>T uc003wtc.3 - 3 6791 c.6562G>A c.(6562-6564)Gag>Aag p.E2188K NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 2188 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GGCTGGGCCTCCCCTTCTGCC 0.617000 239 18 0 0 1 0 0 MLYCD 23417 broad.mit.edu 37 16 83948701 83948701 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:83948701C>T uc002fgz.3 + 4 1109 c.1089C>T c.(1087-1089)atC>atT p.I363I NM_012213 NP_036345 O95822 DCMC_HUMAN Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA. 363 acyl-CoA metabolic process|fatty acid biosynthetic process mitochondrion|peroxisome malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 GTAAGGAAATCTCGGAGATCA 0.542000 163 19 0 0 1 0 0 LGI1 9211 broad.mit.edu 37 10 95552500 95552500 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:95552500G>A uc001kjc.4 + 6 840 c.504_splice c.e6-1 p.V168_splice LGI1_uc021pwk.1_Splice_Site_p.V168_splice|LGI1_uc010qnv.2_Splice_Site_p.V120_splice|LGI1_uc009xui.3_Splice_Site NM_005097 NP_005088 O95970 LGI1_HUMAN Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA. 168 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) TGTCTTTCAGGGACCTGAGGG 0.453000 22 5 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76525572 76525572 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:76525572C>T uc010dhp.2 - 21 3614 c.3489G>A c.(3487-3489)gaG>gaA p.E1163E NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCAAGTGGATCTCCTCTGGCA 0.597000 92 15 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48738468 48738468 + Missense_Mutation SNP C G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:48738468C>G uc002isl.3 + 7 1071 c.991C>G c.(991-993)Ctg>Gtg p.L331V ABCC3_uc002isk.4_Missense_Mutation_p.L331V|ABCC3_uc002ism.3_5'Flank NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 331 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CAATCCACAGCTGCTCAGGTC 0.582000 23 3 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9075298 9075298 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9075298C>T uc002mkp.3 - 2 12352 c.12148G>A c.(12148-12150)Gaa>Aaa p.E4050K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4052 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.E4050D(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGGTAATTTCTGTTCTAGGC 0.507000 46 9 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138546041 138546041 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:138546041G>A uc011kql.2 - 15 5140 c.5091C>T c.(5089-5091)ctC>ctT p.L1697L KIAA1549_uc011kqi.2_Silent_p.L481L|KIAA1549_uc011kqk.2_Silent_p.L481L|KIAA1549_uc011kqj.2_Silent_p.L1697L NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 1697 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TGGGGGCCACGAGGGCAAAGG 0.697000 O BRAF pilocytic astrocytoma 100 8 0 0 1 0 0 ZNF578 147660 broad.mit.edu 37 19 53013914 53013914 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:53013914G>A uc002pzp.4 + 5 524 c.280G>A c.(280-282)Gaa>Aaa p.E94K NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN Homo sapiens zinc finger protein 578 (ZNF578), mRNA. 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) GCAAAGACATGAAAGTTATCA 0.383000 86 9 0 0 1 0 0 MMP24 10893 broad.mit.edu 37 20 33834663 33834663 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:33834663C>T uc002xbu.2 + 1 270 c.267C>T c.(265-267)ggC>ggT p.G89G EDEM2_uc010zuv.1_Intron NM_006690 NP_006681 Q9Y5R2 MMP24_HUMAN Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA. 89 proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5) 14 BRCA - Breast invasive adenocarcinoma(18;0.00252) AGTCCTATGGCTATCTGCTTC 0.522000 98 12 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52511653 52511653 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:52511653C>T uc003ded.4 + 8 1116 c.982C>T c.(982-984)Ctg>Ttg p.L328L NISCH_uc003dec.1_Silent_p.L328L NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN Homo sapiens nischarin (NISCH), mRNA. 328 Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes. apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) TGTGGACAATCTGCAGGTAGT 0.532000 88 11 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100676679 100676679 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:100676679C>T uc003uxp.1 + 2 2035 c.1982C>T c.(1981-1983)aCc>aTc p.T661I MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 661 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACTCCTGTGACCACTTCAACT 0.478000 221 22 0 0 1 0 0 NCR1 9437 broad.mit.edu 37 19 55420748 55420748 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55420748G>A uc002qib.2 + 3 538 c.500G>A c.(499-501)gGa>gAa p.G167E NCR1_uc002qic.2_Missense_Mutation_p.G167E|NCR1_uc002qie.2_Missense_Mutation_p.G167E|NCR1_uc002qid.2_Missense_Mutation_p.G72E|NCR1_uc002qif.2_Missense_Mutation_p.G72E|NCR1_uc010esj.2_Missense_Mutation_p.G60E NM_004829 NP_004820 O76036 NCTR1_HUMAN Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA. 167 Ig-like 2. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity SWI/SNF complex|integral to plasma membrane receptor activity|receptor signaling protein activity p.G167R(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) GTACAGCGCGGATACGGGAAG 0.567000 79 7 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22616487 22616487 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:22616487G>A uc010ajk.2 + 1 314 c.228G>A c.(226-228)ctG>ctA p.L76L TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc001wdg.1_5'UTR|TCRA_uc021rpt.1_5'UTR SubName: Full=TRA@ protein; TGAAGAAGCTGAAGAGACTAA 0.512000 15 5 0 0 1 0 0 RHD 6007 broad.mit.edu 37 1 25611115 25611115 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:25611115C>T uc009vro.3 + 1 258 c.200C>T c.(199-201)tCg>tTg p.S67L C1orf63_uc021ojj.1_Intron|RHD_uc010oep.2_Missense_Mutation_p.S67L|RHD_uc001bjz.3_Missense_Mutation_p.S67L|RHD_uc001bkc.3_Missense_Mutation_p.S67L|RHD_uc009vrm.3_5'UTR|RHD_uc001bka.3_Missense_Mutation_p.S67L|RHD_uc001bkb.3_Missense_Mutation_p.S67L|RHD_uc009vrn.3_Missense_Mutation_p.S67L|RHD_uc009vrp.3_Missense_Mutation_p.S67L Q02161 RHD_HUMAN Homo sapiens Rh blood group, D antigen (RHD), transcript variant 1, mRNA. 67 integral to plasma membrane breast(2)|large_intestine(4)|lung(7)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TTCCTCACCTCGAGTTTCCGG 0.607000 85 9 0 0 1 0 0 CACHD1 57685 broad.mit.edu 37 1 65095117 65095118 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:65095117_65095118CC>TT uc001dbo.1 + 4 549_550 c.444_445CC>TT c.(442-447)ttccca>ttTTca p.P149S CACHD1_uc001dbp.1_5'UTR|CACHD1_uc001dbq.1_5'UTR NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN Homo sapiens cache domain containing 1 (CACHD1), mRNA. 200 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TCACTGTTTTCCCAGCACACAA 0.401000 20 4 0 0 1 0 0 OSGIN2 734 broad.mit.edu 37 8 90937078 90937078 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:90937078C>T uc003yeh.3 + 5 1228 c.968C>T c.(967-969)cCt>cTt p.P323L OSGIN2_uc003yeg.3_Missense_Mutation_p.P279L NM_001126111 NP_004328 Q9Y236 OSGI2_HUMAN Homo sapiens oxidative stress induced growth inhibitor family member 2 (OSGIN2), transcript variant 1, mRNA. 279 germ cell development|meiosis breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(11;0.0344) GAAGATTTTCCTTTTGTGTTT 0.453000 18 3 0 0 1 0 0 SOGA1 140710 broad.mit.edu 37 20 35441193 35441193 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:35441193G>A uc021wcx.1 - 5 2711 c.2371C>T c.(2371-2373)Cgc>Tgc p.R791C SOGA1_uc002xgd.1_Missense_Mutation_p.R553C NM_080627 NP_542194 O94964 K0889_HUMAN Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA. 553 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 TCACCAGTGCGGAAAGCCTCT 0.592000 23 4 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45938082 45938082 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:45938082C>T uc010gzz.3 + 10 1375 c.1228C>T c.(1228-1230)Cgc>Tgc p.R410C FBLN1_uc003bgg.1_Missense_Mutation_p.R372C|FBLN1_uc003bgh.3_Missense_Mutation_p.R372C|FBLN1_uc003bgi.1_Missense_Mutation_p.R372C|FBLN1_uc003bgj.1_Missense_Mutation_p.R372C NM_001996 NP_001987 P23142 FBLN1_HUMAN Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA. 372 EGF-like 6; calcium-binding.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GAAGGGACATCGCTGCGTGAA 0.557000 162 37 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54394986 54394986 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:54394986G>A uc002qcq.1 + 5 870 c.588G>A c.(586-588)gtG>gtA p.V196V PRKCG_uc010eqz.1_Silent_p.V196V|PRKCG_uc010yef.1_Silent_p.V196V|PRKCG_uc010yeg.1_Silent_p.V196V|PRKCG_uc010yeh.1_Silent_p.V83V|Mir_324_uc021vbc.1_5'Flank NM_002739 NP_002730 P05129 KPCG_HUMAN Homo sapiens protein kinase C, gamma (PRKCG), mRNA. 196 C2. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) ATCCCTATGTGAAACTGAAGC 0.517000 145 12 0 0 1 0 0 MYO6 4646 broad.mit.edu 37 6 76566926 76566926 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:76566926G>A uc003pih.1 + 12 1615 c.1336G>A c.(1336-1338)Gaa>Aaa p.E446K MYO6_uc003pig.1_Missense_Mutation_p.E446K|MYO6_uc003pii.1_Missense_Mutation_p.E446K NM_004999 NP_004990 Q9UM54 MYO6_HUMAN Homo sapiens myosin VI (MYO6), mRNA. 446 Myosin head-like. DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) TTTTCCTTTTGAAACATCATC 0.348000 43 9 0 0 1 0 0 PADI2 11240 broad.mit.edu 37 1 17420061 17420061 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:17420061C>T uc001baf.3 - 5 611 c.529_splice c.e5+1 p.D177_splice PADI2_uc010ocm.2_Intron|PADI2_uc001bag.1_Splice_Site_p.D177_splice NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA. 177 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) CCTGCTGGCACCTTCCTTGCT 0.627000 123 19 0 0 1 0 0 SPRYD7 57213 broad.mit.edu 37 13 50502123 50502123 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:50502123G>A uc001vdl.2 - 2 576 c.322C>T c.(322-324)Ctt>Ttt p.L108F SPRYD7_uc001vdm.2_Missense_Mutation_p.L69F|SPRYD7_uc010tgm.1_Intron|SPRYD7_uc010adj.3_Missense_Mutation_p.L108F NM_020456 NP_065189 Q5W111 SPRY7_HUMAN Homo sapiens SPRY domain containing 7 (SPRYD7), transcript variant 1, mRNA. 108 B30.2/SPRY. p.L108P(1) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2) 6 TTGTGGTAAAGGGCTCCATCA 0.468000 44 5 0 0 1 0 0 ADAMTSL5 339366 broad.mit.edu 37 19 1507328 1507329 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:1507328_1507329GG>AA uc010xgq.1 - 9 1113_1114 c.794_795CC>TT c.(793-795)gcc>gTT p.A265V ADAMTSL5_uc010dsl.2_Missense_Mutation_p.A24V|ADAMTSL5_uc002ltd.2_Missense_Mutation_p.A255V NM_213604 NP_998769 Q6ZMM2 ATL5_HUMAN Homo sapiens ADAMTS-like 5 (ADAMTSL5), mRNA. 255 proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CATGCGTGCCGGCCGCCTCGTA 0.658000 114 15 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2033496 2033496 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:2033496G>A uc003wpx.4 + 13 1756 c.1618G>A c.(1618-1620)Gac>Aac p.D540N MYOM2_uc011kwi.2_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 540 Fibronectin type-III 2. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CCGTGGCAAGGACCCGCTCAT 0.597000 23 4 0 0 1 0 0 ELL 8178 broad.mit.edu 37 19 18557151 18557152 + Missense_Mutation DNP GG AT AT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:18557151_18557152GG>AT uc002njh.3 - 9 1743_1744 c.1671_1672CC>AT c.(1669-1674)ctccgg>ctATgg p.R558W ELL_uc010ebq.3_Missense_Mutation_p.R501W|ELL_uc002njg.3_Missense_Mutation_p.R425W NM_006532 NP_006523 P55199 ELL_HUMAN Homo sapiens elongation factor RNA polymerase II (ELL), mRNA. 558 positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction Cajal body|nuclear speck|transcription elongation factor complex protein binding p.R558W(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1) 19 GBM - Glioblastoma multiforme(1328;7.81e-07) GAGAGCTGCCGGAGCTGGGCGT 0.678000 T MLL AL 12 8 0 0 1 0 0 PTPRN 5798 broad.mit.edu 37 2 220167333 220167333 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:220167333C>T uc002vkz.3 - 4 845 c.604G>A c.(604-606)Gaa>Aaa p.E202K PTPRN_uc010zlc.2_Missense_Mutation_p.E112K|PTPRN_uc002vla.3_Missense_Mutation_p.E202K NM_002846 NP_001186693 Q16849 PTPRN_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA. 202 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity p.E202K(2) breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) AAGGCAGGTTCGTAACTCAGT 0.632000 100 7 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98819908 98819908 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:98819908C>T uc001kmw.2 - 9 1201 c.949G>A c.(949-951)Gag>Aag p.E317K SLIT1_uc009xvh.1_Missense_Mutation_p.E317K NM_003061 NP_003052 O75093 SLIT1_HUMAN Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA. 317 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space Roundabout binding|calcium ion binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CCGTTCAGCTCCAGGCGTCTG 0.597000 57 7 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123419371 123419371 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:123419371G>A uc003ego.3 - 17 3226 c.2944C>T c.(2944-2946)Cgc>Tgc p.R982C MYLK_uc011bjw.2_Missense_Mutation_p.R982C|MYLK_uc003egp.3_Missense_Mutation_p.R913C|MYLK_uc003egq.3_Missense_Mutation_p.R982C|MYLK_uc003egr.3_Missense_Mutation_p.R913C|MYLK_uc003egs.3_Missense_Mutation_p.R806C|MYLK_uc003egt.3_Missense_Mutation_p.R173C NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 982 5 X 28 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) AGCACTGAGCGAAAATCCGGG 0.587000 50 6 0 0 1 0 0 C1QB 713 broad.mit.edu 37 1 22987516 22987516 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:22987516C>T uc001bgd.3 + 2 531 c.399C>T c.(397-399)ccC>ccT p.P133P NM_000491 NP_000482 P02746 C1QB_HUMAN Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA. 133 C1q. complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCAACGTCCCCCTGCGCCGGG 0.607000 84 19 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214638071 214638071 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:214638071G>A uc001hkk.2 - 1 729 c.76C>T c.(76-78)Cgc>Tgc p.R26C PTPN14_uc021piy.1_5'UTR|PTPN14_uc010pty.2_Intron NM_005401 NP_005392 Q15678 PTN14_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA. 26 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TCCAGCAGGCGAATCCGTGTG 0.602000 78 9 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238285572 238285572 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:238285572G>A uc002vwl.2 - 6 3198 c.2913C>T c.(2911-2913)ttC>ttT p.F971F COL6A3_uc002vwo.2_Silent_p.F765F|COL6A3_uc010znj.1_Silent_p.F364F|COL6A3_uc002vwq.3_Silent_p.F765F|COL6A3_uc002vwr.3_Silent_p.F564F|COL6A3_uc010znk.1_Silent_p.F771F NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 971 Nonhelical region.|VWFA 5. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTTGGAAGATGAAAGGCACAA 0.547000 101 18 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30736210 30736210 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:30736210C>T uc002dze.1 + 24 5850 c.5465C>T c.(5464-5466)tCc>tTc p.S1822F SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.S1617F NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 1822 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CAGGCATCTTCCCTTGTGGTT 0.632000 53 9 0 0 1 0 0 ZNF695 57116 broad.mit.edu 37 1 247150613 247150613 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:247150613G>A uc009xgu.3 - 3 1389 c.1204C>T c.(1204-1206)Cat>Tat p.H402Y ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Intron|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron NM_020394 NP_065127 Q8IW36 ZN695_HUMAN Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA. 402 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TGCCCAGTATGAATTCTCTTA 0.388000 27 5 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150349105 150349105 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:150349105C>T uc010ntg.2 + 1 1188 c.1050C>T c.(1048-1050)gaC>gaT p.D350D GPR50_uc011myc.2_3'UTR NM_004224 NP_004215 Q13585 MTR1L_HUMAN Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA. 350 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) GTGAACAAGACCGTGCCCATG 0.602000 57 14 0 0 1 0 0 GALNTL2 117248 broad.mit.edu 37 3 16250070 16250070 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:16250070C>T uc003car.4 + 3 1447 c.972C>T c.(970-972)ccC>ccT p.P324P GALNTL2_uc003caq.4_Silent_p.P57P NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA. 324 P -> A (in dbSNP:rs12634179). Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1) 33 AGTATTACCCCTCAAAGGACC 0.512000 107 10 0 0 1 0 0 TEX261 113419 broad.mit.edu 37 2 71215823 71215823 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:71215823G>A uc002shn.3 - 5 612 c.498C>T c.(496-498)ttC>ttT p.F166F TEX261_uc010fdy.3_Silent_p.F119F NM_144582 NP_653183 Q6UWH6 TX261_HUMAN Homo sapiens testis expressed 261 (TEX261), mRNA. 166 integral to membrane NS(1)|breast(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 8 TGCCTTTGGTGAAATAATTGG 0.493000 77 4 0 0 1 0 0 USP8 9101 broad.mit.edu 37 15 50788176 50788176 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:50788176C>T uc001zym.4 + 17 3290 c.2790C>T c.(2788-2790)ttC>ttT p.F930F USP8_uc001zyl.4_Silent_p.F930F|USP8_uc001zyn.4_Silent_p.F930F|USP8_uc010ufh.2_Silent_p.F824F|AX746640_uc001zyo.1_5'Flank|USP8_uc001zyp.4_Silent_p.F97F NM_001128611 NP_005145 P40818 UBP8_HUMAN Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA. 930 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) AGGGTCAATTCAAATCTACAG 0.393000 10 4 0 0 1 0 0 DDR2 4921 broad.mit.edu 37 1 162724981 162724981 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:162724981C>T uc001gcf.3 + 6 918 c.453C>T c.(451-453)ttC>ttT p.F151F DDR2_uc001gcg.3_Silent_p.F151F NM_001014796 NP_006173 Q16832 DDR2_HUMAN Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA. 151 F5/8 type C. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) ATGACATTTTCCTAAAGGACT 0.468000 28 6 0 0 1 0 0 GPD1 2819 broad.mit.edu 37 12 50497865 50497865 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:50497865C>T uc001rvz.3 + 0 65 c.32C>T c.(31-33)tCc>tTc p.S11F GPD1_uc010smp.1_Missense_Mutation_p.S11F|GPD1_uc001rwa.3_Missense_Mutation_p.S11F NM_005276 NP_005267 P21695 GPDA_HUMAN Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA. 11 glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) ATTGTAGGCTCCGGGAACTGG 0.597000 99 7 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23080094 23080094 + Missense_Mutation SNP G A A rs143964057 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:23080094G>A uc002dll.3 - 15 3332 c.3332C>T c.(3331-3333)tCg>tTg p.S1111L USP31_uc002dlk.3_Missense_Mutation_p.S383L|USP31_uc010vca.2_Missense_Mutation_p.S414L|USP31_uc010bxm.3_Missense_Mutation_p.S399L NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA. 1111 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) CTTCTGTGGCGAAGGAGATGA 0.587000 148 8 0 0 1 0 0 HTR1D 3352 broad.mit.edu 37 1 23519807 23519807 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:23519807G>A uc001bgn.3 - 0 1416 c.906C>T c.(904-906)atC>atT p.I302I NM_000864 NP_000855 P28221 5HT1D_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA. 302 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) TGATGCCCAGGATTTTAGTGG 0.552000 88 29 0 0 1 0 0 COG5 10466 broad.mit.edu 37 7 106924055 106924055 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:106924055G>A uc003vec.2 - 12 2054 c.1529C>T c.(1528-1530)tCc>tTc p.S510F COG5_uc003ved.2_Missense_Mutation_p.S510F|COG5_uc003vee.2_Missense_Mutation_p.S510F NM_006348 NP_006339 Q9UP83 COG5_HUMAN Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA. 510 intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 TTCATCAGAGGAAGGAGGATT 0.378000 41 6 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113532927 113532927 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:113532927C>T uc001tuk.1 + 6 1803 c.1467C>T c.(1465-1467)ttC>ttT p.F489F NM_004416 NP_004407 Q86Y01 DTX1_HUMAN Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA. 489 Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding p.E488*(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 AGATGGAGTTCCACCTCATCC 0.652000 58 7 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152537302 152537302 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:152537302G>A uc021vrb.1 - 27 3013 c.2984C>T c.(2983-2985)tCg>tTg p.S995L NEB_uc002txu.3_Missense_Mutation_p.S995L|NEB_uc021vrc.1_Missense_Mutation_p.S995L|NEB_uc010fnx.3_Missense_Mutation_p.S995L|NEB_uc021vrd.1_Missense_Mutation_p.S995L NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 995 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ATCTTCAATCGAGGTAAACTT 0.348000 75 5 0 0 1 0 0 CAP2 10486 broad.mit.edu 37 6 17507461 17507461 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:17507461G>A uc003ncb.3 + 4 605 c.362G>A c.(361-363)aGa>aAa p.R121K CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.R95K|CAP2_uc011djb.2_Missense_Mutation_p.R121K|CAP2_uc011djc.2_Intron|CAP2_uc011djd.2_Intron NM_006366 NP_006357 P40123 CAP2_HUMAN Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA. 121 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) CAAACTTTCAGAGAGAGAAAC 0.483000 38 4 0 0 1 0 0 MAGEB10 139422 broad.mit.edu 37 X 27840332 27840332 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:27840332C>T uc022bud.1 + 0 909 c.909C>T c.(907-909)ttC>ttT p.F303F MAGEB10_uc004dbw.3_Silent_p.F303F NM_182506 NP_872312 Q96LZ2 MAGBA_HUMAN Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA. 303 MAGE. p.F303L(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 CCAGTGAATTCTCAAACTGGT 0.498000 10 3 0 0 1 0 0 CCDC74A 90557 broad.mit.edu 37 2 132288234 132288234 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:132288234G>A uc002tta.3 + 2 430 c.378G>A c.(376-378)gaG>gaA p.E126E CCDC74A_uc002ttb.3_Intron|CCDC74A_uc021vpq.1_Silent_p.E126E|CCDC74A_uc021vpr.1_Silent_p.E168E NM_138770 NP_620125 Q96AQ1 CC74A_HUMAN Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA. 126 endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 TGTGGGTAGAGCCGGGAGGAC 0.667000 48 9 0 0 1 0 0 OASL 8638 broad.mit.edu 37 12 121465519 121465519 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:121465519A>T uc001tzj.1 - 3 765 c.759T>A c.(757-759)aaT>aaA p.N253K OASL_uc001tzk.1_Intron NM_003733 NP_003724 Q15646 OASL_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA. 253 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCAACATGAAATTCTCGTCTT 0.483000 493 34 0 0 1 0 0 ZNF611 81856 broad.mit.edu 37 19 53209878 53209878 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:53209878G>A uc002pzz.3 - 6 747 c.430C>T c.(430-432)Cac>Tac p.H144Y ZNF611_uc010eqc.3_Missense_Mutation_p.H74Y|ZNF611_uc010ydo.2_Missense_Mutation_p.H74Y|ZNF611_uc010ydp.2_Missense_Mutation_p.H144Y|ZNF611_uc010ydq.2_Missense_Mutation_p.H144Y|ZNF611_uc010ydr.2_Missense_Mutation_p.H75Y|ZNF611_uc002qaa.4_Missense_Mutation_p.H74Y|ZNF611_uc021uyy.1_Missense_Mutation_p.H75Y NM_030972 NP_001154973 Q8N823 ZN611_HUMAN Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA. 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) GCATGCCTGTGATCATGTTGG 0.393000 85 10 0 0 1 0 0 ARID3C 138715 broad.mit.edu 37 9 34625778 34625778 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:34625778C>T uc011lon.2 - 1 352 c.352G>A c.(352-354)Gaa>Aaa p.E118K NM_001017363 NP_001017363 A6NKF2 ARI3C_HUMAN Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA. 118 ARID. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 14 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) TCCAGAAATTCCTTCCTCTTG 0.542000 71 5 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160884741 160884741 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:160884741G>A uc002ube.2 - 5 1299 c.1087C>T c.(1087-1089)Cat>Tat p.H363Y PLA2R1_uc010zcp.2_Missense_Mutation_p.H363Y|PLA2R1_uc002ubf.3_Missense_Mutation_p.H363Y NM_007366 NP_031392 Q13018 PLA2R_HUMAN Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA. 363 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 ACTATTTCATGATCAATGTGG 0.333000 44 5 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6318824 6318824 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:6318824T>G uc003mwv.3 - 1 197 c.74A>C c.(73-75)gAt>gCt p.D25A F13A1_uc011dib.2_Missense_Mutation_p.D25A NM_000129 NP_000120 P00488 F13A_HUMAN Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. 25 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GGGCAGGTCATCTTCCGCTGC 0.552000 116 6 0 0 1 0 0 PLAGL1 5325 broad.mit.edu 37 6 144262626 144262626 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:144262626G>A uc003qjv.3 - 2 2593 c.1327C>T c.(1327-1329)Cct>Tct p.P443S PLAGL1_uc003qjx.3_Missense_Mutation_p.P443S|PLAGL1_uc003qjy.3_Missense_Mutation_p.P443S|PLAGL1_uc010khl.3_Missense_Mutation_p.P443S|PLAGL1_uc010khm.3_Missense_Mutation_p.P443S|PLAGL1_uc003qjz.3_Missense_Mutation_p.P443S|PLAGL1_uc003qka.3_Missense_Mutation_p.P443S|PLAGL1_uc003qkb.3_Missense_Mutation_p.P391S|PLAGL1_uc003qkc.3_Missense_Mutation_p.P443S|PLAGL1_uc003qkd.3_Missense_Mutation_p.P391S|PLAGL1_uc003qke.3_Missense_Mutation_p.P443S|PLAGL1_uc003qkf.3_Missense_Mutation_p.P443S|PLAGL1_uc003qkg.3_Missense_Mutation_p.P391S|PLAGL1_uc003qkh.3_Missense_Mutation_p.P443S|PLAGL1_uc003qki.3_Missense_Mutation_p.P391S|PLAGL1_uc003qkj.3_Missense_Mutation_p.P443S|PLAGL1_uc003qkk.3_Missense_Mutation_p.P391S|PLAGL1_uc003qkl.3_Missense_Mutation_p.P391S|PLAGL1_uc003qkm.3_Missense_Mutation_p.P443S|PLAGL1_uc010khn.3_Missense_Mutation_p.P443S|PLAGL1_uc003qkn.3_Missense_Mutation_p.P391S|PLAGL1_uc003qko.3_Missense_Mutation_p.P443S|PLAGL1_uc003qkp.3_Missense_Mutation_p.P391S|PLAGL1_uc003qjw.3_Missense_Mutation_p.P391S|PLAGL1_uc021zgj.1_Missense_Mutation_p.P391S NM_002656 NP_002647 Q9UM63 PLAL1_HUMAN Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA. 443 cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2) 13 OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885) AACACATGAGGGATGGGGGGC 0.527000 394 34 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160156126 160156126 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:160156126C>T uc001fve.4 + 20 3509 c.3030C>T c.(3028-3030)atC>atT p.I1010I ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Silent_p.I513I|ATP1A4_uc001fvh.3_Silent_p.I146I NM_144699 NP_653300 Q13733 AT1A4_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA. 1010 ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity p.E1009K(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ATGATGAAATCAGAAAACTCC 0.562000 220 28 0 0 1 0 0 CELA2B 51032 broad.mit.edu 37 1 15808769 15808769 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:15808769G>A uc001awl.3 + 3 262 c.237G>A c.(235-237)ggG>ggA p.G79G NM_015849 NP_056933 P08218 CEL2B_HUMAN Homo sapiens chymotrypsin-like elastase family, member 2B (CELA2B), mRNA. 79 Peptidase S1. G -> R (in dbSNP:rs3820071). proteolysis extracellular region serine-type endopeptidase activity p.G79V(1) breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 GCTCCTCCGGGATCTACCGCG 0.567000 67 5 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92470193 92470193 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:92470193G>A uc001xzy.3 - 10 4501 c.4127C>T c.(4126-4128)tCg>tTg p.S1376L TRIP11_uc010auf.2_Missense_Mutation_p.S1112L NM_004239 NP_004230 Q15643 TRIPB_HUMAN Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA. 1376 transcription from RNA polymerase II promoter Golgi apparatus|cytoskeleton|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) GGCAGCAATCGAATCAGACAA 0.378000 T PDGFRB AML 50 6 0 0 1 0 0 PRDM5 11107 broad.mit.edu 37 4 121774692 121774692 + Missense_Mutation SNP G A A rs142855444 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:121774692G>A uc003idn.3 - 2 431 c.181C>T c.(181-183)Cgt>Tgt p.R61C PRDM5_uc003ido.3_Missense_Mutation_p.R61C|PRDM5_uc010ine.3_Missense_Mutation_p.R61C|PRDM5_uc010inf.3_Missense_Mutation_p.R61C|PRDM5_uc003idp.1_Missense_Mutation_p.R61C NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN Homo sapiens PR domain containing 5 (PRDM5), mRNA. 61 SET. histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TTACTCCCACGAACCTGAAAC 0.423000 59 4 0 0 1 0 0 CRNKL1 51340 broad.mit.edu 37 20 20033115 20033116 + Silent DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:20033115_20033116GG>AA uc002wrs.3 - 1 386_387 c.354_355CC>TT c.(352-357)gtcctg>gtTTtg p.118_119VL>VL C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Silent_p.106_107VL>VL NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA. 118 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 GGAACTTGCAGGACTGACCTTT 0.609000 62 12 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618521 77618521 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:77618521G>A uc003yau.2 + 1 2585 c.2198G>A c.(2197-2199)gGc>gAc p.G733D ZFHX4_uc003yat.1_Missense_Mutation_p.G733D|ZFHX4_uc003yaw.1_Missense_Mutation_p.G733D NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 733 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTCCAAAATGGCAATGGTGAG 0.522000 HNSCC(33;0.089) 17 4 0 0 1 0 0 SLC7A9 11136 broad.mit.edu 37 19 33333180 33333180 + Missense_Mutation SNP G A A rs143618205 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:33333180G>A uc002ntv.4 - 10 1235 c.1118C>T c.(1117-1119)tCg>tTg p.S373L SLC7A9_uc002ntt.4_Non-coding_Transcript|SLC7A9_uc002ntu.4_Missense_Mutation_p.S373L|SLC7A9_uc021usa.1_Missense_Mutation_p.S373L|SLC7A9_uc002ntw.4_Missense_Mutation_p.S164L NM_001126335 NP_055085 P82251 BAT1_HUMAN Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA. 373 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding p.S373L(4) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) ATTGACTAACGAGTTTATGTC 0.398000 62 5 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109795453 109795453 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:109795453C>T uc001dxa.4 + 0 2813 c.2752C>T c.(2752-2754)Ccc>Tcc p.P918S NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA. 918 Cadherin 7. Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GAATGACAATCCCCCTGTCTT 0.567000 781 46 0 0 1 0 0 SAE1 10055 broad.mit.edu 37 19 47673089 47673089 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:47673089C>T uc002pgc.3 + 5 750 c.642C>T c.(640-642)tgC>tgT p.C214C SAE1_uc002pgd.3_Silent_p.C214C|SAE1_uc010ekx.3_Silent_p.C214C|SAE1_uc010ekw.3_Non-coding_Transcript|SAE1_uc010xyk.2_Silent_p.C40C|SAE1_uc002pge.3_Silent_p.C150C NM_005500 NP_005491 Q9UBE0 SAE1_HUMAN Homo sapiens SUMO1 activating enzyme subunit 1 (SAE1), transcript variant 1, mRNA. 214 protein sumoylation|protein ubiquitination nucleus ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity endometrium(3)|large_intestine(5)|lung(4)|ovary(1) 13 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278) TGGTCTTCTGCCCTGTTAAAG 0.483000 92 10 0 0 1 0 0 HBB 3043 broad.mit.edu 37 11 5247977 5247977 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:5247977G>A uc001mae.1 - 1 195 c.145C>T c.(145-147)Ctg>Ttg p.L49L CoTC_ribozyme_uc021qcu.1_5'Flank NM_000518 NP_000509 P68871 HBB_HUMAN Homo sapiens hemoglobin, beta (HBB), mRNA. 49 L -> P (in Bab-Saadoum; slightly unstable). blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1) 15 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) Iron Dextran(DB00893) GGAGTGGACAGATCCCCAAAG 0.532000 Sickle Cell Trait 40 4 0 0 1 0 0 GLRA2 2742 broad.mit.edu 37 X 14748447 14748447 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:14748447C>T uc010neq.3 + 8 1959 c.1199C>T c.(1198-1200)cCg>cTg p.P400L GLRA2_uc004cwe.4_Missense_Mutation_p.P400L|GLRA2_uc011mio.2_Missense_Mutation_p.P311L|GLRA2_uc010nep.3_Missense_Mutation_p.P400L|GLRA2_uc011mip.2_Missense_Mutation_p.P378L NM_002063 NP_002054 P23416 GLRA2_HUMAN Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA. 400 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity p.P400P(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) CTCCCACAACCGCCAAAAGAT 0.488000 20 4 0 0 1 0 0 ITLN1 55600 broad.mit.edu 37 1 160851087 160851087 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:160851087C>T uc001fxc.3 - 4 537 c.421G>A c.(421-423)Gac>Aac p.D141N NM_017625 NP_060095 Q8WWA0 ITLN1_HUMAN Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA. 141 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GCCTGGATGTCGTAGTAGCCA 0.592000 74 5 0 0 1 0 0 ACTL9 284382 broad.mit.edu 37 19 8808425 8808425 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:8808425G>A uc002mkl.2 - 0 748 c.627C>T c.(625-627)ttC>ttT p.F209F NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN Homo sapiens actin-like 9 (ACTL9), mRNA. 209 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 TGTAGCCCTGGAAGACGGGCA 0.682000 30 5 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65396321 65396321 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:65396321C>T uc001oey.2 + 23 3843 c.3843C>T c.(3841-3843)ctC>ctT p.L1281L PCNXL3_uc001oez.2_Silent_p.L168L NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA. 1281 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 AGGCCCTGCTCTCGGGGCTCT 0.652000 35 4 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141754563 141754563 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:141754563C>T uc003vwy.3 + 26 3223 c.3169C>T c.(3169-3171)Ccc>Tcc p.P1057S NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1057 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GATTTATGATCCCAACAAGAA 0.418000 45 4 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2939144 2939144 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:2939144G>A uc001ajz.3 + 0 1099 c.894G>A c.(892-894)gaG>gaA p.E298E NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN Homo sapiens actin-related protein T2 (ACTRT2), mRNA. 298 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) TCTTTGGGGAGATTGTGCTGT 0.602000 109 18 0 0 1 0 0 RILP 83547 broad.mit.edu 37 17 1551761 1551762 + Missense_Mutation DNP GG AC AC rs145398789 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:1551761_1551762GG>AC uc002ftd.3 - 4 997_998 c.703_704CC>GT c.(703-705)ccc>GTc p.P235V SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank NM_031430 NP_113618 Q96NA2 RILP_HUMAN Homo sapiens Rab interacting lysosomal protein (RILP), mRNA. 235 endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TGCCTCCGAGGGGCGCCCGAGC 0.639000 48 4 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43953567 43953567 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:43953567C>T uc010yny.2 + 16 2781 c.2698C>T c.(2698-2700)Cta>Tta p.L900L PLEKHH2_uc002rtf.3_Silent_p.L899L NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA. 900 PH 2. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AACTTACCTCCTAATTGGATC 0.338000 148 69 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2333321 2333322 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:2333321_2333322GG>AA uc002cpy.1 - 25 4612_4613 c.3900_3901CC>TT c.(3898-3903)gccccg>gcTTcg p.P1301S ABCA3_uc010bsk.1_Missense_Mutation_p.P1243S NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 1301 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CCGACCCCCGGGGCGCTCCAGG 0.653000 52 11 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42750540 42750540 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:42750540C>T uc003cly.4 - 15 2164 c.2080G>A c.(2080-2082)Gag>Aag p.E694K NM_144719 NP_653320 Q8IYE1 CCD13_HUMAN Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA. 694 p.E694K(2) endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 CCCAGGATCTCATGGTACATC 0.612000 54 5 0 0 1 0 0 SLC52A1 55065 broad.mit.edu 37 17 4936589 4936589 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:4936589G>A uc002gap.4 - 3 1814 c.1101C>T c.(1099-1101)ccC>ccT p.P367P SLC52A1_uc002gao.4_Silent_p.P367P|SLC52A1_uc010ckw.3_Silent_p.P245P|SLC52A1_uc010ckx.3_Intron NM_001104577 NP_060456 Q9NWF4 RFT_HUMAN Homo sapiens G protein-coupled receptor 172B (GPR172B), transcript variant 1, mRNA. 367 integral to plasma membrane receptor activity|riboflavin transporter activity TGCCCACCAGGGGTGGGCAGG 0.622000 82 9 0 0 1 0 0 TMEM184A 202915 broad.mit.edu 37 7 1595100 1595100 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:1595100G>A uc003skv.4 - 1 338 c.21C>T c.(19-21)atC>atT p.I7I TMEM184A_uc021zyr.1_5'UTR NM_001097620 NP_001091089 Q6ZMB5 T184A_HUMAN Homo sapiens transmembrane protein 184A (TMEM184A), mRNA. 7 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) CTGTCTCCAGGATCCCTGAGA 0.667000 79 5 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32598135 32598135 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:32598135C>T uc002yow.1 - 7 2188 c.1716G>A c.(1714-1716)caG>caA p.Q572Q TIAM1_uc011adk.1_Silent_p.Q572Q|TIAM1_uc011adl.1_Silent_p.Q572Q|TIAM1_uc002yox.1_Silent_p.Q180Q NM_003253 NP_003244 Q13009 TIAM1_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA. 572 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 TGTCAATCTTCTGTTCCAGTT 0.463000 98 5 0 0 1 0 0 OR2C1 4993 broad.mit.edu 37 16 3405943 3405943 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:3405943G>A uc002cuw.1 + 0 55 c.3G>A c.(1-3)atG>atA p.M1I NM_012368 NP_036500 O95371 OR2C1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA. 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 AACCAGTGATGGACGGGGTGA 0.458000 57 6 0 0 1 0 0 MASP2 10747 broad.mit.edu 37 1 11097823 11097823 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:11097823G>A uc001aru.3 - 6 967 c.935C>T c.(934-936)tCa>tTa p.S312L NM_006610 NP_006601 O00187 MASP2_HUMAN Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA. 312 Sushi 1. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) TTGCACAGGTGAAACGTGGCC 0.502000 OREG0013096 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 92 14 0 0 1 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77516015 77516015 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:77516015C>T uc001dhi.3 + 3 919 c.744C>T c.(742-744)atC>atT p.I248I ST6GALNAC5_uc010ori.2_3'UTR|ST6GALNAC5_uc009wbw.3_Non-coding_Transcript NM_030965 NP_112227 Q9BVH7 SIA7E_HUMAN Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA. 248 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 GTGACAGGATCAATGTTTATG 0.428000 97 6 0 0 1 0 0 TBRG4 9238 broad.mit.edu 37 7 45148715 45148715 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:45148715G>A uc011kcd.2 - 1 204 c.155C>T c.(154-156)tCc>tTc p.S52F TBRG4_uc003tmu.3_5'Flank|TBRG4_uc003tmv.3_Missense_Mutation_p.S41F|TBRG4_uc003tmw.3_Missense_Mutation_p.S41F|TBRG4_uc003tmx.3_Missense_Mutation_p.S41F NM_004749 NP_004740 Q969Z0 TBRG4_HUMAN Homo sapiens transforming growth factor beta regulator 4 (TBRG4), transcript variant 1, mRNA. 41 G1 phase of mitotic cell cycle|apoptosis|cell cycle arrest|cellular respiration|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2) 17 GGTGGCTGAGGAAGTCAGAGT 0.587000 91 30 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154317450 154317450 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:154317450C>T uc001fex.3 + 21 2389 c.2389C>T c.(2389-2391)Cac>Tac p.H797Y NM_020452 NP_065185 P98198 AT8B2_HUMAN Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA. 783 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GCTCCAGGCCCACGCACTGGA 0.582000 OREG0013835 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 94 11 0 0 1 0 0 KCNK18 338567 broad.mit.edu 37 10 118969283 118969283 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:118969283C>T uc010qsr.2 + 2 628 c.628C>T c.(628-630)Cca>Tca p.P210S NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA. 210 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) TGAAGAGCTTCCAGGCCCCAA 0.532000 59 4 0 0 1 0 0 HERPUD1 9709 broad.mit.edu 37 16 56977170 56977170 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:56977170C>T uc002eke.1 + 7 1553 c.1144C>T c.(1144-1146)Ctt>Ttt p.L382F HERPUD1_uc002ekf.1_Missense_Mutation_p.L381F|HERPUD1_uc002ekg.1_Missense_Mutation_p.L357F|HERPUD1_uc010cco.1_3'UTR|HERPUD1_uc010ccp.1_Missense_Mutation_p.L284F|HERPUD1_uc002ekh.1_Missense_Mutation_p.L200F NM_014685 NP_055500 Q15011 HERP1_HUMAN Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA. 382 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 11 TGCCTCTCTTCTTCCAGAAGG 0.532000 T ERG prostate 174 14 0 0 1 0 0 LOC146880 146880 broad.mit.edu 37 17 62754737 62754737 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:62754737G>A uc010wqc.2 - 6 c.1613C>T Homo sapiens Rho GTPase activating protein 27 pseudogene (LOC146880), non-coding RNA. TGAGACAAAGGGAGAAAGCTA 0.378000 58 17 0 0 1 0 0 TTC18 118491 broad.mit.edu 37 10 75082833 75082833 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:75082833G>A uc009xrc.3 - 9 1131 c.1010C>T c.(1009-1011)tCg>tTg p.S337L TTC18_uc001jty.3_Missense_Mutation_p.S337L|TTC18_uc009xrd.1_Missense_Mutation_p.S145L NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA. 337 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) ACCATGAAACGAAAGCTGAGC 0.403000 52 5 0 0 1 0 0 OVCH1 341350 broad.mit.edu 37 12 29648366 29648366 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:29648366C>T uc001rix.1 - 3 306 c.306G>A c.(304-306)gtG>gtA p.V102V NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN Homo sapiens ovochymase 1 (OVCH1), mRNA. 102 Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity p.T101I(1)|p.V102A(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) CCCCAGAAGTCACAGTTATAT 0.363000 38 9 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179642625 179642625 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:179642625G>A uc021vsy.1 - 24 4511 c.4286C>T c.(4285-4287)cCt>cTt p.P1429L TTN_uc021vsz.1_Missense_Mutation_p.P1383L|TTN_uc021vta.1_Missense_Mutation_p.P1383L|TTN_uc021vtb.1_Missense_Mutation_p.P1383L|TTN_uc002unb.2_Missense_Mutation_p.P1429L|AK123298_uc002unc.1_Non-coding_Transcript NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1429 ZIS5. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATCCGTGCAGGAGACATCCT 0.483000 12 3 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122664262 122664262 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:122664262C>T uc021pzt.1 + 24 3378 c.3132C>T c.(3130-3132)ggC>ggT p.G1044G WDR11_uc010qte.2_Silent_p.G646G|WDR11_uc001lfd.1_Silent_p.G562G|AX747838_uc001lfe.1_5'Flank NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN Homo sapiens WD repeat domain 11 (WDR11), mRNA. 1044 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 CCTCGTCAGGCCCCTCTCAGA 0.443000 53 5 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60702167 60702167 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:60702167C>T uc001nqi.3 + 8 1963 c.1770C>T c.(1768-1770)gaC>gaT p.D590D TMEM132A_uc001nqj.3_Silent_p.D589D NM_017870 NP_060340 Q24JP5 T132A_HUMAN Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA. 589 Golgi membrane|endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 GCGTGCTGGACTCGCGTGTAG 0.706000 33 4 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 56047350 56047350 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:56047350C>T uc003pcs.3 - 1 299 c.67G>A c.(67-69)Gaa>Aaa p.E23K COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.E23K|COL21A1_uc003pcu.1_Missense_Mutation_p.E23K NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 23 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TCCCCATCTTCAGCTAACACA 0.348000 12 3 0 0 1 0 0 ASTL 431705 broad.mit.edu 37 2 96798394 96798394 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:96798394C>T uc010yui.2 - 5 522 c.522G>A c.(520-522)caG>caA p.Q174Q NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA. 174 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 CCCGGCCCTTCTGGAGACACG 0.632000 97 16 0 0 1 0 0 AMOTL1 154810 broad.mit.edu 37 11 94533272 94533272 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:94533272C>T uc001pfb.3 + 2 1086 c.916C>T c.(916-918)Cct>Tct p.P306S AMOTL1_uc001pfc.3_Missense_Mutation_p.P256S NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN Homo sapiens angiomotin like 1 (AMOTL1), mRNA. 306 cytoplasm|tight junction identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 36 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) AGTGCTGGACCCTCGGGGTCC 0.597000 93 7 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76024113 76024113 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:76024113C>T uc010kbe.3 - 5 1974 c.1444G>A c.(1444-1446)Gaa>Aaa p.E482K FILIP1_uc003phy.1_Missense_Mutation_p.E479K|FILIP1_uc003phz.3_Missense_Mutation_p.E380K|FILIP1_uc003pia.3_Missense_Mutation_p.E479K|FILIP1_uc003pib.1_Missense_Mutation_p.E231K NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 479 p.E481Q(1) breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 CATTCCAATTCTTTAACTCGA 0.373000 38 4 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109347931 109347931 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:109347931G>A uc002tem.4 + 4 531 c.405_splice c.e4+1 p.K135_splice NM_006267 NP_006258 P49792 RBP2_HUMAN Homo sapiens RAN binding protein 2 (RANBP2), mRNA. 135 carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TAAACTAAAGGTAAACAAACA 0.323000 116 16 0 0 1 0 0 PRAM1 84106 broad.mit.edu 37 19 8563973 8563973 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:8563973G>A uc002mkd.3 - 1 782 c.719C>T c.(718-720)tCc>tTc p.S240F NM_032152 NP_115528 Q96QH2 PRAM_HUMAN Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA. 288 Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 CTGCGGCACGGACTTCTTAGG 0.617000 49 8 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50464038 50464038 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:50464038C>T uc010ybh.2 - 1 322 c.231G>A c.(229-231)cgG>cgA p.R77R SIGLEC11_uc010ybi.2_Silent_p.R77R NM_052884 NP_443116 Q96RL6 SIG11_HUMAN Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA. 77 Ig-like V-type. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) TTGGGCTGGTCCGTCCTTTGA 0.602000 39 12 0 0 1 0 0 SMAD7 4092 broad.mit.edu 37 18 46474785 46474785 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:46474785G>A uc002ldg.3 - 1 923 c.636C>T c.(634-636)tcC>tcT p.S212S SMAD7_uc010xde.2_5'UTR|SMAD7_uc021ujr.1_Silent_p.S212S NM_005904 NP_005895 O15105 SMAD7_HUMAN Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA. 212 Important for interaction with SMURF2. BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 10 Colorectal(1;0.0518) TCGGGTATCTGGAGTAAGGAG 0.393000 61 4 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 1005638 1005638 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:1005638G>A uc021qss.1 + 23 7408 c.6765G>A c.(6763-6765)aaG>aaA p.K2255K WNK1_uc001qio.4_Silent_p.K1995K|WNK1_uc021qst.1_Silent_p.K2247K|WNK1_uc001qip.4_Silent_p.K1747K|WNK1_uc001qir.4_Silent_p.K1168K NM_001184985 NP_001171914 Q9H4A3 WNK1_HUMAN Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA. 1995 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TGATACCAAAGAAAGAGAAGC 0.468000 62 12 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70476323 70476323 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:70476323G>A uc003xyg.2 + 3 674 c.113G>A c.(112-114)cGa>cAa p.R38Q SULF1_uc010lza.1_Missense_Mutation_p.R38Q|SULF1_uc003xyd.2_Missense_Mutation_p.R38Q|SULF1_uc003xye.2_Missense_Mutation_p.R38Q|SULF1_uc003xyf.2_Missense_Mutation_p.R38Q NM_001128206 NP_055985 Q8IWU6 SULF1_HUMAN Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA. 38 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway Golgi stack|cell surface|endoplasmic reticulum|extracellular space arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CAGCAGGAACGAAAAAACATC 0.493000 43 7 0 0 1 0 0 WAS 7454 broad.mit.edu 37 X 48547050 48547050 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:48547050G>A uc004dkm.4 + 10 989 c.932_splice c.e10-1 p.E311_splice NM_000377 NP_000368 P42768 WASP_HUMAN Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA. 311 T cell receptor signaling pathway|blood coagulation|defense response|epidermis development|immune response actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(315;1.27e-10) CCTCCACAGAGCCACTTCCGC 0.572000 """Mis, N, F, S""" lymphoma 23 4 0 0 1 0 0 NMUR2 56923 broad.mit.edu 37 5 151784098 151784098 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:151784098G>A uc003luv.2 - 0 743 c.577C>T c.(577-579)Ccc>Tcc p.P193S NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA. 193 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) GACCCATTGGGGAAGTAGTGG 0.582000 87 11 0 0 1 0 0 TFCP2L1 29842 broad.mit.edu 37 2 122038838 122038838 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:122038838G>A uc002tmx.3 - 1 165 c.72C>T c.(70-72)ctC>ctT p.L24L TFCP2L1_uc010flr.3_Silent_p.L24L NM_014553 NP_055368 Q9NZI6 TF2L1_HUMAN Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA. 24 Mediate transcriptional repression. female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) TGGGCAGAGCGAGCACATCAC 0.637000 97 19 0 0 1 0 0 LEFTY1 10637 broad.mit.edu 37 1 226075129 226075129 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:226075129T>A uc001hpo.3 - 2 787 c.707A>T c.(706-708)gAg>gTg p.E236V PYCR2_uc010pvj.2_Silent_p.G344G NM_020997 NP_066277 O75610 LFTY1_HUMAN Homo sapiens left-right determination factor 1 (LEFTY1), mRNA. 236 cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity|transforming growth factor beta receptor binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 10 Breast(184;0.197) GGTGTGCAGCTCCAGCTGGGG 0.612000 56 5 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82595196 82595196 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:82595196G>A uc003uhx.2 - 3 4197 c.3908C>T c.(3907-3909)cCt>cTt p.P1303L PCLO_uc003uhv.2_Missense_Mutation_p.P1303L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1242 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TAAACTCTGAGGTGTGCCAGA 0.448000 35 9 0 0 1 0 0 TDRD7 23424 broad.mit.edu 37 9 100204051 100204051 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:100204051A>G uc004axj.3 + 5 974 c.749A>G c.(748-750)aAt>aGt p.N250S TDRD7_uc011lux.2_Missense_Mutation_p.N176S NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN Homo sapiens tudor domain containing 7 (TDRD7), mRNA. 250 Lotus/OST-HTH 2. lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) AAGCATAACAATGGCATTTGG 0.343000 4 4 0 0 1 0 0 C19orf57 79173 broad.mit.edu 37 19 14000019 14000019 + Silent SNP G A A rs141570550 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:14000019G>A uc002mxl.1 - 5 1709 c.1650C>T c.(1648-1650)ttC>ttT p.F550F C19orf57_uc002mxk.1_Silent_p.F432F NM_024323 NP_077299 Q0VDD7 CS057_HUMAN Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA. 550 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GTGGGGCTTCGAAGTCAGAGG 0.607000 31 7 0 0 1 0 0 SERPINB12 89777 broad.mit.edu 37 18 61233987 61233987 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:61233987G>A uc010xeo.2 + 6 1021 c.1021G>A c.(1021-1023)Gat>Aat p.D341N SERPINB12_uc010xen.2_Missense_Mutation_p.D321N NM_080474 NP_536722 Q96P63 SPB12_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA. 321 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 GGGCATTACGGATATCTTTGA 0.433000 134 8 0 0 1 0 0 OR51A4 401666 broad.mit.edu 37 11 4967848 4967848 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:4967848G>A uc010qys.2 - 0 483 c.483C>T c.(481-483)ttC>ttT p.F161F NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA. 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AAGTGAAAGGGAAGGGAAGAA 0.433000 91 6 0 0 1 0 0 GCOM1 145781 broad.mit.edu 37 15 57910339 57910339 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:57910339G>A uc002aei.3 + 2 402 c.271G>A c.(271-273)Ggg>Agg p.G91R GCOM1_uc002aej.3_Missense_Mutation_p.G91R|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.G91R|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.G91R NM_001018100 NP_001018110 P0CAP1 GCOM1_HUMAN Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA. 91 intracellular signal transduction I band|extrinsic to internal side of plasma membrane endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 GGTGGTGTATGGGTGGTCCAC 0.448000 40 4 0 0 1 0 0 LRRC16B 90668 broad.mit.edu 37 14 24537878 24537878 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:24537878C>T uc001wlj.2 + 36 3925 c.3768C>T c.(3766-3768)ttC>ttT p.F1256F LRRC16B_uc001wlk.2_Silent_p.F309F|CPNE6_uc010tnv.2_5'Flank|CPNE6_uc001wlm.3_5'Flank|CPNE6_uc001wll.3_5'Flank NM_138360 NP_612369 Q8ND23 LR16B_HUMAN Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA. 1256 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) GGACCCTCTTCCCAGAGAGGA 0.592000 27 5 0 0 1 0 0 OSTCP1 202459 broad.mit.edu 37 6 159262695 159262695 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:159262695C>T uc003qrw.3 - 2 c.649G>A Homo sapiens oligosaccharyltransferase complex subunit pseudogene 1 (OSTCP1), non-coding RNA. AATCCAGTATCCATTGAGTTC 0.413000 55 4 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140581704 140581704 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140581704A>T uc003liy.3 + 0 2357 c.2357A>T c.(2356-2358)aAc>aTc p.N786I NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN Homo sapiens protocadherin beta 11 (PCDHB11), mRNA. 786 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGTGAAGAAAACTCCACCTTT 0.338000 26 7 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91755549 91755549 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:91755549G>A uc010aty.3 - 24 4495 c.4341C>T c.(4339-4341)gcC>gcT p.A1447A NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA. 1447 Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation cytoplasm|insoluble fraction PDZ domain binding|microtubule binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) GCGGCTGAGAGGCCGCCGGCG 0.632000 124 10 0 0 1 0 0 BPIFB2 80341 broad.mit.edu 37 20 31606532 31606532 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:31606532C>T uc002wyj.3 + 8 953 c.759C>T c.(757-759)tcC>tcT p.S253S NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA. 253 extracellular region lipid binding CCGAGGGCTCCATGGCCACCG 0.627000 100 18 0 0 1 0 0 ACP6 51205 broad.mit.edu 37 1 147131548 147131548 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:147131548G>A uc001epr.2 - 2 906 c.442C>T c.(442-444)Ccc>Tcc p.P148S ACP6_uc009wjj.1_Missense_Mutation_p.P105S NM_016361 NP_057445 Q9NPH0 PPA6_HUMAN Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA. 148 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1) 16 all_hematologic(923;0.0276) GAAAGAAAGGGAATGTCTTCC 0.483000 29 4 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128301981 128301981 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:128301981G>A uc003kuy.3 + 1 547 c.151G>A c.(151-153)Ggg>Agg p.G51R SLC27A6_uc003kuz.3_Missense_Mutation_p.G51R NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA. 51 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TGAAAAGAGAGGGGAGCTGGT 0.443000 79 7 0 0 1 0 0 MAPK8IP1 9479 broad.mit.edu 37 11 45919642 45919643 + Missense_Mutation DNP CC AT AT rs145799284 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:45919642_45919643CC>AT uc001nbr.3 + 1 433_434 c.108_109CC>AT c.(106-111)acccat>acATat p.H37Y MAPK8IP1_uc010rgp.1_Missense_Mutation_p.H21Y NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA. 37 vesicle-mediated transport nucleus|perinuclear region of cytoplasm MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) CCAGGCTCACCCATGACATCAG 0.545000 26 5 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873791 36873791 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:36873791C>T uc003cgj.3 - 20 7399 c.7151G>A c.(7150-7152)aGg>aAg p.R2384K NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2384 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GAAAAAGAGCCTCTTGTAGTC 0.463000 95 8 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137733918 137733918 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:137733918C>T uc003lcy.1 + 9 3083 c.2883C>T c.(2881-2883)ccC>ccT p.P961P KDM3B_uc010jew.1_Silent_p.P617P|KDM3B_uc011cys.1_5'UTR NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA. 961 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 TTTTAAGCCCCCAGCAAAGTG 0.478000 90 6 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15300083 15300083 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:15300083C>T uc002nan.3 - 7 1268 c.1192_splice c.e7+1 p.G398_splice NOTCH3_uc002nao.1_Splice_Site_p.G398_splice NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Homo sapiens notch 3 (NOTCH3), mRNA. 398 EGF-like 10; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GCTCCCCTCACCGATAGAGCA 0.642000 83 11 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101572567 101572568 + Missense_Mutation DNP CT TC TC TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:101572567_101572568CT>TC uc003knm.3 - 12 2456_2457 c.2169_2170AG>GA c.(2167-2172)gaaggg>gaGAgg p.G724R NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA. 724 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity p.E723Q(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) CCATTTCACCCTTCTTTTACTA 0.371000 5 3 0 0 1 0 0 PCDH7 5099 broad.mit.edu 37 4 30724158 30724158 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:30724158C>T uc003gsk.1 + 0 2122 c.1114C>T c.(1114-1116)Cgg>Tgg p.R372W PCDH7_uc011bxx.2_Missense_Mutation_p.R372W|PCDH7_uc021xnd.1_Missense_Mutation_p.R372W|PCDH7_uc021xnc.1_Missense_Mutation_p.R372W NM_002589 NP_002580 O60245 PCDH7_HUMAN Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA. 372 Cadherin 3. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 CGTCCTGCACCGGATCGACCG 0.677000 33 8 0 0 1 0 0 MYOC 4653 broad.mit.edu 37 1 171621638 171621638 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:171621638C>T uc001ghu.3 - 0 136 c.114G>A c.(112-114)agG>agA p.R38R MYOC_uc010pmk.2_Silent_p.R38R NM_000261 NP_000252 Q99972 MYOC_HUMAN Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA. 38 anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CATTGGCCTTCCTGAGCTGAG 0.607000 29 5 0 0 1 0 0 SSX8 280659 broad.mit.edu 37 X 52657338 52657338 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:52657338C>T uc011moa.1 + 4 c.605C>T SSX8_uc011mob.1_Non-coding_Transcript Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA. TCCAGAGAATCATCCCGAAGG 0.413000 61 5 0 0 1 0 0 LRRC52 440699 broad.mit.edu 37 1 165533028 165533028 + Silent SNP G A A rs148593286 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:165533028G>A uc001gde.2 + 1 965 c.909G>A c.(907-909)acG>acA p.T303T LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA. 303 integral to membrane NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1) 18 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) AAACCCAGACGAGCTCGGTCC 0.567000 88 15 0 0 1 0 0 TM2D3 80213 broad.mit.edu 37 15 102190335 102190335 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:102190335T>C uc002bxi.3 - 2 229 c.199A>G c.(199-201)Aag>Gag p.K67E TM2D3_uc010usg.1_Missense_Mutation_p.K41E|TM2D3_uc002bxh.3_Missense_Mutation_p.K2E|TM2D3_uc002bxj.3_Missense_Mutation_p.K41E|TM2D3_uc010ush.1_Missense_Mutation_p.K67E NM_078474 NP_510883 Q9BRN9 TM2D3_HUMAN Homo sapiens TM2 domain containing 3 (TM2D3), transcript variant 1, mRNA. 67 integral to membrane central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1) 10 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CTCGGACACTTCATCACATAA 0.423000 45 4 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95669314 95669314 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:95669314G>A uc001yef.2 - 8 2488 c.2372C>T c.(2371-2373)cCc>cTc p.P791L NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA. 791 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) GCTGGCACTGGGGAGGCTCTC 0.637000 41 6 0 0 1 0 0 EZH1 2145 broad.mit.edu 37 17 40858195 40858195 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:40858195G>A uc010wgu.2 - 14 1723 c.1687C>T c.(1687-1689)Cgt>Tgt p.R563C EZH1_uc002iaz.3_Missense_Mutation_p.R557C|EZH1_uc002iba.3_Missense_Mutation_p.R548C|EZH1_uc010wgt.2_Missense_Mutation_p.R487C|EZH1_uc010wgv.2_Missense_Mutation_p.R517C|EZH1_uc010wgw.2_Missense_Mutation_p.R418C|EZH1_uc010cyp.2_Missense_Mutation_p.R458C|EZH1_uc010cyq.2_Missense_Mutation_p.R474C|EZH1_uc010cyo.1_Missense_Mutation_p.R220C NM_001991 NP_001982 Q92800 EZH1_HUMAN Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA. 557 Cys-rich. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|chromatin binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) CCAGGGAAACGATTCTGACCT 0.483000 57 9 0 0 1 0 0 AKR1B1 231 broad.mit.edu 37 7 134133142 134133142 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:134133142G>A uc003vrp.1 - 5 730 c.656C>T c.(655-657)cCc>cTc p.P219L NM_001628 NP_001619 P15121 ALDR_HUMAN Homo sapiens aldo-keto reductase family 1, member B1 (aldose reductase) (AKR1B1), mRNA. 219 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2) 14 NADH(DB00157)|Sulindac(DB00605) AGCTCACCAGGGCCTGTCAGG 0.522000 85 5 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104640130 104640130 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:104640130C>T uc001yos.4 + 9 1955 c.1955C>T c.(1954-1956)cCc>cTc p.P652L NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN Homo sapiens kinesin family member 26A (KIF26A), mRNA. 652 Kinesin-motor. blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GCTGGGGGTCCCCTGTGTCTG 0.692000 29 4 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131639260 131639260 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:131639260C>T uc021qav.1 - 13 1441 c.1340G>A c.(1339-1341)cGa>cAa p.R447Q EBF3_uc001lki.2_Missense_Mutation_p.R461Q NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN Homo sapiens early B-cell factor 3 (EBF3), mRNA. 470 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding p.R461Q(1)|p.R470Q(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GACGTAGCCTCGCGGGGACAC 0.552000 126 9 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105944858 105944858 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:105944858A>T uc001kxw.3 - 15 2173 c.2057T>A c.(2056-2058)aTt>aAt p.I686N WDR96_uc009xxq.3_5'UTR|WDR96_uc001kxx.4_Missense_Mutation_p.I687N NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN Homo sapiens WD repeat domain 96 (WDR96), mRNA. 686 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CATTGACTGAATCCCATGACC 0.403000 67 10 0 0 1 0 0 OR7D2 162998 broad.mit.edu 37 19 9296644 9296644 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9296644C>T uc002mkz.1 + 0 375 c.187C>T c.(187-189)Ctc>Ttc p.L63F NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA. 63 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 GTACTTCTTCCTCTCCAACCT 0.542000 58 15 0 0 1 0 0 ALOX15 246 broad.mit.edu 37 17 4542357 4542357 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:4542357C>T uc002fyh.3 - 2 433 c.408G>A c.(406-408)agG>agA p.R136R ALOX15_uc010vsd.2_Silent_p.R97R|ALOX15_uc010vse.2_Silent_p.R158R NM_001140 NP_001131 P16050 LOX15_HUMAN Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA. 136 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) GGTACAACTTCCTTCTCTCTT 0.592000 97 10 0 0 1 0 0 PROK2 60675 broad.mit.edu 37 3 71821909 71821909 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:71821909G>A uc003dpa.4 - 3 510 c.356C>T c.(355-357)tCa>tTa p.S119L PROK2_uc003doz.4_Missense_Mutation_p.S98L NM_001126128 NP_001119600 Q9HC23 PROK2_HUMAN Homo sapiens prokineticin 2 (PROK2), transcript variant 1, mRNA. 119 activation of MAPK activity|angiogenesis|anti-apoptosis|cell proliferation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|neuropeptide signaling pathway|positive regulation of smooth muscle contraction|sensory perception of pain|spermatogenesis extracellular region G-protein-coupled receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306) TCGGTTAAATGAAGTCCGTAA 0.413000 46 6 0 0 1 0 0 IL1R2 7850 broad.mit.edu 37 2 102626190 102626190 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:102626190C>T uc002tbm.3 + 2 463 c.234C>T c.(232-234)gtC>gtT p.V78V IL1R2_uc002tbn.3_Silent_p.V78V|IL1R2_uc002tbo.1_Silent_p.V78V NM_004633 NP_775465 P27930 IL1R2_HUMAN Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA. 78 Ig-like C2-type 1. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) CTAGGACGGTCCCAGGAGAAG 0.597000 200 62 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43437823 43437823 + Silent SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:43437823A>T uc002lbm.3 - 41 7537 c.7437T>A c.(7435-7437)tcT>tcA p.S2479S EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Silent_p.S1033S|EPG5_uc002lbn.2_Silent_p.S1354S NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA. 2479 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 CTTACCTGTTAGACAAAGGCG 0.493000 46 6 0 0 1 0 0 PTPRA 5786 broad.mit.edu 37 20 3002852 3002852 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:3002852C>T uc010zqd.2 + 13 1664 c.1347C>T c.(1345-1347)atC>atT p.I449I PTPRA_uc002whj.3_Silent_p.I438I|PTPRA_uc002whk.3_Silent_p.I429I|PTPRA_uc002whl.3_Silent_p.I429I|PTPRA_uc002whm.3_Silent_p.I205I|PTPRA_uc002whn.3_Silent_p.I429I|PTPRA_uc002who.3_Silent_p.I101I NM_002836 NP_002827 P18433 PTPRA_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA. 438 Tyrosine-protein phosphatase 1. axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 CAGGGGCCATCGTGGTCCACT 0.602000 107 6 0 0 1 0 0 NXF5 55998 broad.mit.edu 37 X 101092580 101092580 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:101092580C>T uc011mrk.1 - 14 1326 c.966G>A c.(964-966)gtG>gtA p.V322V NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA. 322 NTF2; truncated. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding p.N321Y(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 TGAGGGAGTCCACGTTTCGTG 0.542000 41 9 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79948455 79948455 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:79948455G>A uc004edt.3 - 27 3510 c.3247C>T c.(3247-3249)Cag>Tag p.Q1083* BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Nonsense_Mutation_p.Q912*|BRWD3_uc004edq.3_Nonsense_Mutation_p.Q679*|BRWD3_uc010nmj.2_Nonsense_Mutation_p.Q679*|BRWD3_uc004edr.3_Nonsense_Mutation_p.Q753*|BRWD3_uc004eds.3_Nonsense_Mutation_p.Q679*|BRWD3_uc004edo.3_Nonsense_Mutation_p.Q679*|BRWD3_uc004edu.3_Nonsense_Mutation_p.Q753*|BRWD3_uc004edv.3_Nonsense_Mutation_p.Q679*|BRWD3_uc004edw.3_Nonsense_Mutation_p.Q679*|BRWD3_uc004edx.3_Nonsense_Mutation_p.Q679*|BRWD3_uc004edy.3_Nonsense_Mutation_p.Q679*|BRWD3_uc004edz.3_Nonsense_Mutation_p.Q753*|BRWD3_uc004eea.3_Nonsense_Mutation_p.Q753*|BRWD3_uc004eeb.3_Nonsense_Mutation_p.Q679* NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA. 1083 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 CTGTAACACTGGAAAGAACTA 0.403000 36 5 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 33003895 33003895 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:33003895G>A uc001rlj.4 - 4 1298 c.1183C>T c.(1183-1185)Cgt>Tgt p.R395C PKP2_uc001rlk.4_Missense_Mutation_p.R395C|PKP2_uc010skj.2_Missense_Mutation_p.R395C NM_004572 NP_004563 Q99959 PKP2_HUMAN Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. 395 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) AGGATGCCACGAAGCTGGTTA 0.408000 58 9 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34072483 34072483 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:34072483C>T uc001zhi.3 + 64 9279 c.9209C>T c.(9208-9210)aCc>aTc p.T3070I RYR3_uc010bar.3_Missense_Mutation_p.T3070I NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 3070 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.T3070A(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTGGAGCCCACCCTTAATCGC 0.527000 22 4 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88780812 88780812 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:88780812C>T uc001pcq.3 - 0 429 c.229G>A c.(229-231)Gaa>Aaa p.E77K GRM5_uc009yvm.3_Missense_Mutation_p.E77K|GRM5_uc009yvn.2_Missense_Mutation_p.E77K NM_001143831 NP_001137303 P41594 GRM5_HUMAN Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA. 77 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TTGATCCTTTCCAGGGTATGC 0.542000 9 3 0 0 1 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968916 62968916 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:62968916G>A uc002jez.3 - 2 c.506C>T AMZ2P1_uc002jfa.3_Non-coding_Transcript|AMZ2P1_uc002jfb.3_Non-coding_Transcript|AMZ2P1_uc010del.2_Non-coding_Transcript Homo sapiens archaelysin family metallopeptidase 2 pseudogene 1 (AMZ2P1), non-coding RNA. GACTCTAAAGGAACACCTTGT 0.353000 19 3 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 36910047 36910047 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:36910047C>T uc022abv.1 - 19 2566 c.1856G>A c.(1855-1857)gGa>gAa p.G619E ELMO1_uc003tfi.2_Missense_Mutation_p.G139E|ELMO1_uc003tfj.2_Missense_Mutation_p.G139E|ELMO1_uc011kbb.2_Non-coding_Transcript|ELMO1_uc011kbc.2_Missense_Mutation_p.G523E|ELMO1_uc003tfk.2_Missense_Mutation_p.G619E|ELMO1_uc010kxg.2_Missense_Mutation_p.G619E NM_001206482 NP_001193411 Q92556 ELMO1_HUMAN Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA. 619 PH. Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding p.T618T(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GCAGTCCTTTCCCGTCACCAC 0.413000 29 5 0 0 1 0 0 KRT6B 3854 broad.mit.edu 37 12 52844314 52844314 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:52844314C>T uc001sak.3 - 1 679 c.631G>A c.(631-633)Gag>Aag p.E211K NM_005555 NP_005546 P04259 K2C6B_HUMAN Homo sapiens keratin 6B (KRT6B), mRNA. 211 Linker 1.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) AACAACGGCTCCAGGTTCTGC 0.587000 64 14 0 0 1 0 0 abParts 0 broad.mit.edu 37 22 22758874 22758874 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:22758874G>A uc021wml.1 + 61 c.6664G>A Parts of antibodies, mostly variable regions. GGTACCAGCAGCTCCCAGGAA 0.562000 78 7 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14613944 14613944 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:14613944C>T uc003ssz.3 - 18 1853 c.1666G>A c.(1666-1668)Gaa>Aaa p.E556K DGKB_uc011jxt.2_Missense_Mutation_p.E537K|DGKB_uc003sta.3_Missense_Mutation_p.E556K|DGKB_uc011jxu.2_Missense_Mutation_p.E555K NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA. 556 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) AACATGATTTCTGTGCTGTTT 0.348000 109 12 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5841745 5841745 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:5841745C>T uc001qnm.2 - 14 1558 c.1486G>A c.(1486-1488)Gag>Aag p.E496K NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN Homo sapiens anoctamin 2 (ANO2), mRNA. 501 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TGGTTGCTCTCCTTTAGCATT 0.453000 31 5 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106866677 106866677 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:106866677G>A uc021ser.1 - 432 c.13543C>T Parts of antibodies, mostly variable regions. GCCTCCCCCAGACTCCACCAG 0.562000 48 4 0 0 1 0 0 TTLL5 23093 broad.mit.edu 37 14 76330014 76330014 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:76330014C>T uc010ask.2 + 29 3651 c.3376C>T c.(3376-3378)Ctg>Ttg p.L1126L TTLL5_uc001xrx.3_Silent_p.L1111L|TTLL5_uc001xrz.3_Silent_p.L686L|TTLL5_uc001xsa.3_Silent_p.L185L NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA. 1111 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) CTTCAGGAGCCTGCAGACAGG 0.488000 33 8 0 0 1 0 0 CSF1R 1436 broad.mit.edu 37 5 149457738 149457738 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:149457738G>A uc003lrl.3 - 3 861 c.666C>T c.(664-666)atC>atT p.I222I CSF1R_uc011dcd.2_Silent_p.I74I|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.I222I|CSF1R_uc011dce.1_Silent_p.I222I|CSF1R_uc011dcf.2_Silent_p.I222I NM_005211 NP_005202 P07333 CSF1R_HUMAN Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA. 222 Ig-like C2-type 3. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CTGAGCACACGATCTGGGCAG 0.582000 61 16 0 0 1 0 0 PRODH2 58510 broad.mit.edu 37 19 36297436 36297436 + Silent SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:36297436T>C uc002obx.1 - 7 1143 c.1125A>G c.(1123-1125)ggA>ggG p.G375G NM_021232 NP_067055 Q9UF12 PROD2_HUMAN Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA. 375 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCAGCTTCACTCCGAAGGCCA 0.627000 97 9 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99723974 99723974 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:99723974G>A uc001yga.3 - 1 528 c.261C>T c.(259-261)gcC>gcT p.A87A BCL11B_uc001ygb.3_Silent_p.A87A NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA. 87 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) TGTCATAGCAGGCACCCAAGC 0.587000 T TLX3 T-ALL 76 5 0 0 1 0 0 CD1D 912 broad.mit.edu 37 1 158151886 158151886 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:158151886C>T uc001frr.3 + 3 892 c.393C>T c.(391-393)ttC>ttT p.F131F CD1D_uc009wsr.1_Silent_p.F131F|CD1D_uc009wss.3_Silent_p.F131F|CD1D_uc009wst.1_Silent_p.F27F NM_001766 NP_001757 P15813 CD1D_HUMAN Homo sapiens CD1d molecule (CD1D), mRNA. 131 T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding p.F131L(2) endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) CAAATAACTTCTTCCATGTAG 0.498000 185 7 0 0 1 0 0 SP7 121340 broad.mit.edu 37 12 53722523 53722523 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:53722523C>T uc001sct.3 - 1 810 c.703G>A c.(703-705)Gga>Aga p.G235R SP7_uc001scv.3_Missense_Mutation_p.G235R|SP7_uc001scu.3_Missense_Mutation_p.G217R NM_152860 NP_690599 Q8TDD2 SP7_HUMAN Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA. 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 CCACTATTTCCCACTGCCTTG 0.612000 53 8 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73270725 73270725 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:73270725C>T uc001jrx.4 + 4 693 c.303C>T c.(301-303)ttC>ttT p.F101F CDH23_uc001jrw.4_Silent_p.F101F|CDH23_uc001jry.3_Silent_p.F101F|CDH23_uc001jrz.3_Silent_p.F101F|CDH23_uc021psl.1_Silent_p.F101F|CDH23_uc001jrv.3_Silent_p.F96F|CDH23_uc009xql.3_Silent_p.F101F NM_022124 NP_071407 Q9H251 CAD23_HUMAN Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. 101 Cadherin 1. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 AGTCAGAGTTCACCGTGGAGT 0.622000 97 5 0 0 1 0 0 ZCCHC4 29063 broad.mit.edu 37 4 25335045 25335045 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:25335045C>T uc003grl.4 + 3 606 c.570C>T c.(568-570)ctC>ctT p.L190L ZCCHC4_uc003grm.1_Non-coding_Transcript NM_024936 NP_079212 Q9H5U6 ZCHC4_HUMAN Homo sapiens zinc finger, CCHC domain containing 4 (ZCCHC4), mRNA. 190 methyltransferase activity|nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1) 9 Breast(46;0.0503) TTTCTGCCCTCGGATTCAGAA 0.393000 55 8 0 0 1 0 0 FAM199X 139231 broad.mit.edu 37 X 103434387 103434387 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:103434387C>T uc004elw.3 + 5 1406 c.1095C>T c.(1093-1095)ttC>ttT p.F365F FAM199X_uc004elx.3_Silent_p.F139F NM_207318 NP_997201 Q6PEV8 F199X_HUMAN Homo sapiens family with sequence similarity 199, X-linked (FAM199X), mRNA. 365 p.F365L(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 GTGGGCTCTTCCTTAACGAAG 0.498000 27 11 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38738884 38738884 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:38738884C>T uc003ciq.3 - 26 5827 c.5827G>A c.(5827-5829)Gaa>Aaa p.E1943K NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1943 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GCTTCATCTTCATTTTGTATT 0.478000 55 5 0 0 1 0 0 KDM2A 22992 broad.mit.edu 37 11 67012810 67012810 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:67012810C>T uc001ojw.3 + 13 2578 c.1714C>T c.(1714-1716)Cga>Tga p.R572* KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Nonsense_Mutation_p.R266*|KDM2A_uc010rpn.2_Nonsense_Mutation_p.R133*|KDM2A_uc001ojz.1_Nonsense_Mutation_p.R30* NM_012308 NP_036440 Q9Y2K7 KDM2A_HUMAN Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA. 572 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 AGTGCGATGTCGAAAATGCAA 0.552000 39 11 0 0 1 0 0 OR5A1 219982 broad.mit.edu 37 11 59211505 59211505 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:59211505G>A uc001nnx.1 + 0 864 c.864G>A c.(862-864)ctG>ctA p.L288L NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA. 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 TCCCCATGCTGAACCCTCTCA 0.473000 61 8 0 0 1 0 0 RSPH3 83861 broad.mit.edu 37 6 159420479 159420479 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:159420479C>T uc003qrx.3 - 0 720 c.530G>A c.(529-531)aGc>aAc p.S177N RSPH3_uc010kju.3_Missense_Mutation_p.S177N NM_031924 NP_114130 Q86UC2 RSPH3_HUMAN Homo sapiens radial spoke 3 homolog (Chlamydomonas) (RSPH3), mRNA. 177 endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7) 23 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) CTGCGTCAGGCTGTCCCGGTA 0.677000 60 4 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140731807 140731807 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140731807C>T uc003ljo.2 + 0 1980 c.1980C>T c.(1978-1980)ttC>ttT p.F660F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljq.2_5'Flank|PCDHGC5_uc011daq.2_Silent_p.F660F|PCDHGC5_uc003ljp.1_5'Flank NM_018922 NP_061745 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA. 666 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTAATCTTCGCGGATAGCC 0.657000 76 6 0 0 1 0 0 CDCA7 83879 broad.mit.edu 37 2 174231977 174231977 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:174231977T>G uc002uic.1 + 8 1416 c.1285T>G c.(1285-1287)Tat>Gat p.Y429D CDCA7_uc002uid.1_Missense_Mutation_p.Y350D|CDCA7_uc010zej.1_Missense_Mutation_p.Y385D|CDCA7_uc010zek.1_Missense_Mutation_p.Y308D NM_031942 NP_114148 Q9BWT1 CDCA7_HUMAN Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA. 350 regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.Y429Y(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) TTTAGCCAAATATCATGGCTT 0.453000 51 9 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25250979 25250979 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:25250979G>A uc003abg.2 + 5 629 c.472G>A c.(472-474)Gaa>Aaa p.E158K SGSM1_uc010guu.1_Missense_Mutation_p.E158K|SGSM1_uc003abh.2_Missense_Mutation_p.E158K|SGSM1_uc003abj.2_Missense_Mutation_p.E158K|SGSM1_uc003abi.1_Missense_Mutation_p.E133K|SGSM1_uc003abf.2_Missense_Mutation_p.E158K NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA. 158 RUN. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 CTATGAGAAGGAAGCTCTCCT 0.502000 30 4 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61432354 61432354 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:61432354C>T uc002jal.4 + 11 1986 c.1963C>T c.(1963-1965)Cta>Tta p.L655L TANC2_uc010wpe.2_Silent_p.L565L|TANC2_uc002jam.1_Silent_p.L22L NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA. 655 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 AGGGTCCTATCTATATCTGAA 0.383000 87 6 0 0 1 0 0 ACP6 51205 broad.mit.edu 37 1 147119331 147119331 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:147119331G>A uc001epr.2 - 9 1645 c.1181C>T c.(1180-1182)cCg>cTg p.P394L NM_016361 NP_057445 Q9NPH0 PPA6_HUMAN Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA. 394 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1) 16 all_hematologic(923;0.0276) CATGTCCAGCGGGCAGAGCCC 0.502000 56 7 0 0 1 0 0 RAB11FIP4 84440 broad.mit.edu 37 17 29858712 29858712 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:29858712C>T uc002hgn.1 + 14 2105 c.1876C>T c.(1876-1878)Ctg>Ttg p.L626L RAB11FIP4_uc002hgo.2_Silent_p.L524L NM_032932 NP_116321 Q86YS3 RFIP4_HUMAN Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA. 626 FIP-RBD.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) CCTCGCCATCCTGGACCACAA 0.567000 54 13 0 0 1 0 0 GTF2E2 2961 broad.mit.edu 37 8 30437808 30437809 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:30437808_30437809GG>AA uc003xig.3 - 6 1001_1002 c.748_749CC>TT c.(748-750)cca>TTa p.P250L NM_002095 NP_002086 P29084 T2EB_HUMAN Homo sapiens general transcription factor IIE, polypeptide 2, beta 34kDa (GTF2E2), mRNA. 250 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) CACTTTCTTTGGTCCAGATTCC 0.485000 38 9 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 33985519 33985519 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:33985519G>A uc001bxm.1 - 68 10806 c.10629C>T c.(10627-10629)tcC>tcT p.S3543S CSMD2_uc001bxn.1_Silent_p.S3399S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 3399 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGCGGCCAATGGACTCGGGGT 0.567000 27 11 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133220548 133220548 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:133220548G>A uc001uks.1 - 32 4209 c.4165C>T c.(4165-4167)Cct>Tct p.P1389S POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.P193S|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.P1362S NM_006231 NP_006222 Q07864 DPOE1_HUMAN Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA. 1389 DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TTGGAGCGAGGAAGGACCCGA 0.502000 DNA polymerases (catalytic subunits) 78 10 0 0 1 0 0 HEYL 26508 broad.mit.edu 37 1 40097199 40097199 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:40097199C>T uc001cdp.3 - 2 251 c.200G>A c.(199-201)cGa>cAa p.R67Q HEYL_uc010oiw.2_Missense_Mutation_p.R39Q NM_014571 NP_055386 Q9NQ87 HEYL_HUMAN Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA. 67 Helix-loop-helix motif.|Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity). Notch signaling pathway|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GACCAAGCGTCGCAATTCAGA 0.458000 63 4 0 0 1 0 0 UPK2 7379 broad.mit.edu 37 11 118828810 118828810 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:118828810G>A uc001puh.3 + 4 475 c.422G>A c.(421-423)aGg>aAg p.R141K NM_006760 NP_006751 O00526 UPK2_HUMAN Homo sapiens uroplakin 2 (UPK2), mRNA. 141 cellular membrane organization|epithelial cell differentiation|multicellular organismal development integral to endoplasmic reticulum membrane|integral to plasma membrane kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) TTGACAGGAAGGAACATGGAA 0.617000 69 6 0 0 1 0 0 SLC2A3 6515 broad.mit.edu 37 12 8083865 8083865 + Silent SNP G A A rs150412980 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:8083865G>A uc001qtr.3 - 3 748 c.486C>T c.(484-486)atC>atT p.I162I NM_006931 NP_008862 P11169 GTR3_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA. 162 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) TTCCAACAACGATGCCCAGCT 0.478000 52 5 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52523677 52523677 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:52523677C>T uc003ded.4 + 16 3573 c.3439C>T c.(3439-3441)Cac>Tac p.H1147Y NISCH_uc003dee.4_Missense_Mutation_p.H636Y|NISCH_uc003deg.1_Non-coding_Transcript NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN Homo sapiens nischarin (NISCH), mRNA. 1147 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CGAGCTCTTCCACAGCAGCAT 0.672000 62 9 0 0 1 0 0 QSOX2 169714 broad.mit.edu 37 9 139110984 139110984 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:139110984G>A uc010nbi.2 - 6 886 c.848C>T c.(847-849)tCg>tTg p.S283L NM_181701 NP_859052 Q6ZRP7 QSOX2_HUMAN Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA. 283 cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) CAAATAAGACGAAAAGAAGGC 0.468000 63 7 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20480929 20480929 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:20480929G>A uc010bwe.3 + 4 723 c.484G>A c.(484-486)Gaa>Aaa p.E162K ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.E83K|ACSM2A_uc002dhf.4_Missense_Mutation_p.E162K|ACSM2A_uc002dhg.4_Missense_Mutation_p.E162K|ACSM2A_uc010vay.2_Missense_Mutation_p.E83K NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA. 162 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 TGCTGGGGATGAAGTCATCCA 0.448000 44 6 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40351265 40351265 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:40351265C>T uc003gva.1 + 3 748 c.732C>T c.(730-732)ctC>ctT p.L244L NM_017581 NP_060051 Q9UGM1 ACHA9_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA. 244 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) TCGTCAACCTCCTCATCCCAT 0.517000 237 22 0 0 1 0 0 TMEM130 222865 broad.mit.edu 37 7 98453715 98453715 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:98453715C>T uc003upo.3 - 3 832 c.643G>A c.(643-645)Gaa>Aaa p.E215K TMEM130_uc011kiq.2_Missense_Mutation_p.E196K|TMEM130_uc011kir.2_Missense_Mutation_p.E215K|TMEM130_uc003upn.3_Missense_Mutation_p.E113K NM_001134450 NP_001127922 Q8N3G9 TM130_HUMAN Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA. 215 PKD. Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCCACCTCTTCCCACTCCGCC 0.577000 50 4 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94033889 94033889 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:94033889C>T uc003ung.1 + 6 772 c.301C>T c.(301-303)Cca>Tca p.P101S COL1A2_uc011kib.1_Missense_Mutation_p.P101S|COL1A2_uc022ahm.1_5'Flank|COL1A2_uc010lfh.1_5'Flank NM_000089 NP_000080 P08123 CO1A2_HUMAN Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. 101 Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) ACCTAGAGGCCCACCTGGTGC 0.428000 HNSCC(75;0.22) 25 6 0 0 1 0 0 FOXN1 8456 broad.mit.edu 37 17 26861902 26861902 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:26861902C>T uc010crm.3 + 7 1511 c.1313C>T c.(1312-1314)cCc>cTc p.P438L FOXN1_uc002hbj.3_Missense_Mutation_p.P438L NM_003593 NP_003584 O15353 FOXN1_HUMAN Homo sapiens forkhead box N1 (FOXN1), mRNA. 438 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) GGCAAGAACCCCCTGCAGGAC 0.667000 25 6 0 0 1 0 0 RASAL1 8437 broad.mit.edu 37 12 113556998 113556998 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:113556998G>A uc001tun.2 - 7 878 c.577C>T c.(577-579)Ccg>Tcg p.P193S RASAL1_uc010syp.2_Missense_Mutation_p.P193S|RASAL1_uc001tul.3_Missense_Mutation_p.P193S|RASAL1_uc001tum.2_Missense_Mutation_p.P193S|RASAL1_uc010syq.2_Missense_Mutation_p.P193S|RASAL1_uc001tuo.4_Missense_Mutation_p.P193S|RASAL1_uc010syr.2_Missense_Mutation_p.P193S NM_001193520 NP_001180449 O95294 RASL1_HUMAN Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA. 193 C2 2. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|metal ion binding|phospholipid binding p.P193S(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 AGTGGGGACGGGGCACCTGGC 0.597000 73 5 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117691489 117691489 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:117691489C>T uc001twn.2 - 17 3415 c.2704G>A c.(2704-2706)Gac>Aac p.D902N NOS1_uc021ren.1_Missense_Mutation_p.D532N|NOS1_uc021reo.1_Missense_Mutation_p.D532N|NOS1_uc001twm.2_Missense_Mutation_p.D868N NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 868 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.G901R(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TCTCTGAGGTCGGGCCCATCG 0.562000 69 5 0 0 1 0 0 LTF 4057 broad.mit.edu 37 3 46485071 46485071 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:46485071C>T uc003cpq.3 - 12 1757 c.1516G>A c.(1516-1518)Gaa>Aaa p.E506K LTF_uc003fzr.3_Missense_Mutation_p.E462K|LTF_uc010hjh.3_Missense_Mutation_p.E504K|LTF_uc003cpr.3_Missense_Mutation_p.E493K NM_002343 NP_001186078 P02788 TRFL_HUMAN Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA. 506 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) CTGAAATATTCATCTGGAGAG 0.502000 142 11 0 0 1 0 0 TBR1 10716 broad.mit.edu 37 2 162273265 162273265 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:162273265C>T uc002ubw.1 + 0 646 c.344C>T c.(343-345)tCt>tTt p.S115F TBR1_uc010foy.2_5'Flank NM_006593 NP_006584 Q16650 TBR1_HUMAN Homo sapiens T-box, brain, 1 (TBR1), mRNA. 115 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 CAGCCACAGTCTGCGGCCACT 0.637000 174 18 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175898126 175898126 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:175898126G>A uc003iuc.3 + 4 2120 c.1450G>A c.(1450-1452)Gga>Aga p.G484R ADAM29_uc003iud.3_Missense_Mutation_p.G484R|ADAM29_uc010irr.3_Missense_Mutation_p.G484R|ADAM29_uc011cki.2_Missense_Mutation_p.G484R|ADAM29_uc021xuo.1_Missense_Mutation_p.G484R NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 484 Cys-rich. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TGTGGAAGATGGAATTCCCTG 0.458000 23 4 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18022835 18022835 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:18022835G>A uc021trm.1 + 0 940 c.721G>A c.(721-723)Gac>Aac p.D241N MYO15A_uc021trl.1_Missense_Mutation_p.D241N NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 241 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CTATCACCGCGACGGCGACGA 0.652000 23 4 0 0 1 0 0 SMAD5 4090 broad.mit.edu 37 5 135508252 135508252 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:135508252C>A uc003lbj.1 + 6 1349 c.905C>A c.(904-906)cCt>cAt p.P302H SMAD5_uc003lbk.1_Missense_Mutation_p.P302H|SMAD5_uc003lbl.1_Missense_Mutation_p.P302H NM_001001419 NP_001001419 Q99717 SMAD5_HUMAN Homo sapiens SMAD family member 5 (SMAD5), transcript variant 2, mRNA. 302 MH2. BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding central_nervous_system(1)|large_intestine(4)|lung(3) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTCACAGATCCTTCAAATAAC 0.338000 28 4 0.014758 0.0148672 1 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885348 88885348 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:88885348G>A uc003ydz.3 - 0 949 c.852C>T c.(850-852)ttC>ttT p.F284F NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA. 284 p.F284F(2) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 ATGACACCAGGAATTGGCCAT 0.498000 46 12 0 0 1 0 0 GCM2 9247 broad.mit.edu 37 6 10874606 10874606 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:10874606G>A uc003mzn.4 - 4 1215 c.1143C>T c.(1141-1143)acC>acT p.T381T SYCP2L_uc011dim.1_Intron NM_004752 NP_004743 O75603 GCM2_HUMAN Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA. 381 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) TGGTGATCACGGTTTGTAGGG 0.557000 173 8 0 0 1 0 0 C17orf57 124989 broad.mit.edu 37 17 45507190 45507190 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:45507190A>G uc002iln.3 + 23 2932 c.2501A>G c.(2500-2502)cAg>cGg p.Q834R C17orf57_uc002ilm.3_Missense_Mutation_p.Q738R NM_152347 NP_689560 Q8IY85 CQ057_HUMAN Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA. 834 calcium ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3) 36 GCAGCTACACAGATACTCTTA 0.373000 59 5 0 0 1 0 0 ZNF432 9668 broad.mit.edu 37 19 52537686 52537686 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:52537686G>A uc002pyk.3 - 4 1564 c.1246C>T c.(1246-1248)Ctt>Ttt p.L416F NM_014650 NP_055465 O94892 ZN432_HUMAN Homo sapiens zinc finger protein 432 (ZNF432), mRNA. 416 L -> V (in a breast cancer sample; somatic mutation). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L416V(2) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) TGTACAATAAGATTACTCTTC 0.398000 77 13 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8979244 8979244 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:8979244C>T uc002mkp.3 - 70 42331 c.42127G>A c.(42127-42129)Gaa>Aaa p.E14043K MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.E860K|MUC16_uc021uog.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 14068 SEA 13. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGACCAGGTTCATTGTAACCT 0.488000 34 5 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17235223 17235223 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:17235223G>A uc002dfa.3 - 6 1459 c.1374C>T c.(1372-1374)ttC>ttT p.F458F NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN Homo sapiens xylosyltransferase I (XYLT1), mRNA. 458 glycosaminoglycan biosynthetic process Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GCTTCCGAATGAACCTGGGAG 0.577000 29 5 0 0 1 0 0 QSOX1 5768 broad.mit.edu 37 1 180151425 180151425 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:180151425C>T uc001gnz.3 + 5 798 c.723C>T c.(721-723)ttC>ttT p.F241F QSOX1_uc001gny.3_Silent_p.F241F|QSOX1_uc001gob.1_Non-coding_Transcript NM_002826 NP_002817 O00391 QSOX1_HUMAN Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA. 241 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 ACCTGCTGTTCCGGAATGGCT 0.607000 155 34 0 0 1 0 0 SGCA 6442 broad.mit.edu 37 17 48247506 48247506 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:48247506G>A uc002iqi.3 + 6 786 c.750G>A c.(748-750)gtG>gtA p.V250V SGCA_uc002iqj.3_Intron|SGCA_uc010wmi.2_Intron|BC126901_uc010dbn.1_5'Flank NM_000023 NP_000014 Q16586 SGCA_HUMAN Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA. 250 muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1) 14 CTGTGCAGGTGGATAAGTCAG 0.632000 23 5 0 0 1 0 0 IMMP2L 83943 broad.mit.edu 37 7 110303671 110303671 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:110303671C>T uc003vfq.2 - 5 958 c.515G>A c.(514-516)aGa>aAa p.R172K IMMP2L_uc010ljr.2_Missense_Mutation_p.R172K NM_032549 NP_115938 Q96T52 IMP2L_HUMAN Homo sapiens IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) (IMMP2L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 172 protein processing involved in protein targeting to mitochondrion|proteolysis integral to membrane|mitochondrial inner membrane peptidase complex|nucleus serine-type peptidase activity endometrium(3)|large_intestine(6)|lung(5) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173) TTCCTCTTCTCTCTGTACTGG 0.493000 48 5 0 0 1 0 0 ZNF662 389114 broad.mit.edu 37 3 42956672 42956672 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:42956672C>T uc003cmk.2 + 3 1371 c.1185C>T c.(1183-1185)ttC>ttT p.F395F ZNF662_uc003cmi.2_Silent_p.F369F|ZNF662_uc003cmj.2_Silent_p.F261F NM_001134656 NP_001128128 Q6ZS27 ZN662_HUMAN Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA. 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) GGAAAAGCTTCTTTTGCAAGG 0.463000 23 3 0 0 1 0 0 ADCK1 57143 broad.mit.edu 37 14 78390841 78390841 + Silent SNP C T T rs143243521 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:78390841C>T uc001xui.3 + 7 999 c.900C>T c.(898-900)ttC>ttT p.F300F ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Silent_p.F232F|ADCK1_uc001xuk.1_Silent_p.F174F|ADCK1_uc001xul.3_Silent_p.F7F NM_020421 NP_065154 Q86TW2 ADCK1_HUMAN Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA. 307 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) AGATGATCTTCGTCAATGGCT 0.582000 94 13 0 0 1 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869805 22869805 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:22869805C>T uc002zwe.3 - 1 403 c.150G>A c.(148-150)ggG>ggA p.G50G abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Silent_p.G50G NM_080740 NP_542778 P59817 Z280A_HUMAN Homo sapiens zinc finger protein 280A (ZNF280A), mRNA. 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TTGAAATCATCCCGACAAAGA 0.428000 63 14 0 0 1 0 0 RHAG 6005 broad.mit.edu 37 6 49586933 49586933 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:49586933G>A uc003ozk.4 - 1 362 c.300C>T c.(298-300)atC>atT p.I100I RHAG_uc010jzl.3_Silent_p.I100I|RHAG_uc010jzm.3_Silent_p.I100I NM_000324 NP_000315 Q02094 RHAG_HUMAN Homo sapiens Rh-associated glycoprotein (RHAG), mRNA. 100 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) GGCTTTGCAGGATTCCCTGTA 0.453000 54 4 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97547928 97547928 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:97547928G>A uc001drv.3 - 21 3002 c.2865C>T c.(2863-2865)aaC>aaT p.N955N NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 955 4Fe-4S ferredoxin-type 2. 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity p.N955K(2) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) ATTTACCACAGTTGATACACA 0.398000 39 8 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150164060 150164060 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:150164060C>T uc003whj.3 + 1 604 c.274C>T c.(274-276)Ccc>Tcc p.P92S NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 92 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GCTCTCTGCTCCCAGCCTCCA 0.507000 78 6 0 0 1 0 0 DYDC2 84332 broad.mit.edu 37 10 82126699 82126699 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:82126699C>T uc001kca.1 + 4 906 c.526C>T c.(526-528)Cct>Tct p.P176S DYDC2_uc001kbz.1_Non-coding_Transcript|DYDC2_uc001kcb.1_Missense_Mutation_p.P176S NM_032372 NP_115748 Q96IM9 DYDC2_HUMAN Homo sapiens DPY30 domain containing 2 (DYDC2), mRNA. 176 protein binding p.P176L(1) breast(1)|large_intestine(3)|lung(6)|skin(1) 11 Colorectal(32;0.229) CTCCAAATCTCCTTTTTAGGT 0.408000 110 5 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 72021046 72021046 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:72021046G>A uc002atb.1 + 7 1595 c.1516G>A c.(1516-1518)Gag>Aag p.E506K THSD4_uc002atd.1_Missense_Mutation_p.E180K|THSD4_uc010ukg.1_Missense_Mutation_p.E146K|THSD4_uc002ate.2_Missense_Mutation_p.E146K NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA. 506 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TCCCACCAACGAGATCTTGGA 0.458000 153 10 0 0 1 0 0 KIF7 374654 broad.mit.edu 37 15 90171980 90171980 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:90171980C>T uc002bof.2 - 18 3779 c.3702G>A c.(3700-3702)caG>caA p.Q1234Q KIF7_uc010upw.1_Silent_p.Q720Q NM_198525 NP_940927 Q2M1P5 KIF7_HUMAN Homo sapiens kinesin family member 7 (KIF7), mRNA. 1234 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) TTCCAGGAGCCTGTCTGCCCT 0.632000 36 5 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152286383 152286383 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152286383C>T uc001ezu.1 - 2 1015 c.979G>A c.(979-981)Gag>Aag p.E327K AK056431_uc001ezv.3_Non-coding_Transcript NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 327 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.W326S(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTTGACTGCTCCCACGCAGAT 0.567000 Ichthyosis 147 23 0 0 1 0 0 NT5C1B-RDH14 100526794 broad.mit.edu 37 2 18765398 18765398 + Missense_Mutation SNP C T T rs140827083 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:18765398C>T uc010exr.3 - 4 965 c.853G>A c.(853-855)Gag>Aag p.E285K NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.E343K|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.E283K|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.E343K|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.E326K|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.E360K|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.E345K|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.E283K|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Missense_Mutation_p.E135K NM_001199103 NP_001186032 Q96P26 5NT1B_HUMAN Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA. 343 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding ATGACGTTCTCATTGGTGAGC 0.572000 151 6 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140248996 140248996 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140248996G>A uc003lia.2 + 0 1166 c.308G>A c.(307-309)aGc>aAc p.S103N PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.S103N NM_018902 NP_061725 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA. 118 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGAGTGCAGCATCCACCTG 0.562000 205 38 0 0 1 0 0 HPD 3242 broad.mit.edu 37 12 122294236 122294236 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:122294236G>A uc001ubj.3 - 5 358 c.318C>T c.(316-318)atC>atT p.I106I HPD_uc001ubk.3_Silent_p.I67I NM_002150 NP_001165464 P32754 HPPD_HUMAN Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA. 106 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1) 18 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) TTACCTGCACGATGTAGTCAC 0.582000 55 8 0 0 1 0 0 CD300E 342510 broad.mit.edu 37 17 72613448 72613448 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:72613448C>T uc002jlb.2 - 1 334 c.197G>A c.(196-198)gGa>gAa p.G66E NM_181449 NP_852114 Q496F6 CLM2_HUMAN Homo sapiens CD300e molecule (CD300E), mRNA. 66 Ig-like V-type. integral to membrane|plasma membrane receptor activity breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 CTTCTCTTCTCCCTTGGTCTC 0.522000 82 8 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123324094 123324094 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:123324094C>T uc021pzz.1 - 4 1024 c.377_splice c.e4-1 p.D126_splice FGFR2_uc021pzv.1_Splice_Site_p.D126_splice|FGFR2_uc021pzw.1_Intron|FGFR2_uc021pzx.1_Splice_Site_p.D37_splice|FGFR2_uc021pzy.1_Splice_Site_p.D126_splice|FGFR2_uc010qtl.2_Splice_Site_p.D126_splice|FGFR2_uc010qtm.2_Intron|FGFR2_uc021qaa.1_Splice_Site_p.D126_splice|FGFR2_uc021qab.1_Splice_Site_p.D37_splice|FGFR2_uc021qac.1_Splice_Site_p.D56_splice|FGFR2_uc001lfn.4_Intron|FGFR2_uc010qtn.2_Splice_Site_p.D145_splice|FGFR2_uc010qto.2_Intron|FGFR2_uc001lfo.1_Splice_Site_p.D145_splice|FGFR2_uc010qtp.2_Splice_Site_p.D145_splice|FGFR2_uc010qtq.2_Splice_Site_p.D145_splice NM_000141 NP_000132 P21802 FGFR2_HUMAN Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA. 126 angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) GAGATGGCATCTGTATGCAAA 0.433000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 77 10 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45671422 45671422 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:45671422C>T uc021qgn.1 - 0 1052 c.1052G>A c.(1051-1053)cGa>cAa p.R351Q CHST1_uc001mys.2_Missense_Mutation_p.R351Q NM_003654 NP_003645 O43916 CHST1_HUMAN Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA. 351 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) CGCCGAGTTTCGCACGGTGCC 0.682000 65 6 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44955175 44955175 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:44955175G>A uc003coc.4 + 13 2086 c.2013G>A c.(2011-2013)gtG>gtA p.V671V NM_003241 NP_003232 P49221 TGM4_HUMAN Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA. 671 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) CCAAACAAGTGAAAGAGATTA 0.423000 OREG0015520 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 60 13 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702628 27702628 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:27702628G>A uc001itu.2 - 0 670 c.552C>T c.(550-552)ttC>ttT p.F184F NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 184 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GGCCCTGCACGAAGCGCCGCT 0.627000 157 7 0 0 1 0 0 GABRB1 2560 broad.mit.edu 37 4 47427765 47427765 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:47427765G>A uc003gxh.3 + 8 1529 c.1155G>A c.(1153-1155)acG>acA p.T385T GABRB1_uc011bze.2_Silent_p.T315T NM_000812 NP_000803 P18505 GBRB1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA. 385 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AAGTGCTCACGAGCGTGAGCG 0.622000 56 5 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158509713 158509713 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:158509713C>T uc003qqx.2 + 23 3471 c.3365C>T c.(3364-3366)tCg>tTg p.S1122L SYNJ2_uc003qqw.2_Missense_Mutation_p.S1122L|SYNJ2_uc003qqy.2_Missense_Mutation_p.S885L|SYNJ2_uc003qqz.2_Missense_Mutation_p.S739L|SYNJ2_uc003qra.2_Missense_Mutation_p.S465L NM_003898 NP_001171559 O15056 SYNJ2_HUMAN Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA. 1122 RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) GTGAAAAAGTCGGCTTCAGAT 0.522000 100 17 0 0 1 0 0 MTHFR 4524 broad.mit.edu 37 1 11854584 11854584 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:11854584G>A uc001atb.1 - 6 1445 c.1247C>T c.(1246-1248)tCt>tTt p.S416F MTHFR_uc001atc.2_Missense_Mutation_p.S393F NM_005957 NP_005948 P42898 MTHR_HUMAN Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA. 393 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) GGCAGGGGAAGAGGAATTGCC 0.597000 54 18 0 0 1 0 0 ACSM5 54988 broad.mit.edu 37 16 20439148 20439148 + Silent SNP C T T rs12921787 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:20439148C>T uc002dhe.3 + 6 1107 c.960C>T c.(958-960)gtC>gtT p.V320V NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA. 320 fatty acid metabolic process mitochondrial matrix ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 TCTGCTGTGTCCCAACCATCT 0.473000 117 8 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10725381 10725381 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:10725381G>A uc001aro.3 - 4 584 c.264C>T c.(262-264)atC>atT p.I88I CASZ1_uc001arp.1_Silent_p.I88I|CASZ1_uc009vmx.2_Silent_p.I112I NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA. 88 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CCCACTTCTCGATCACTGCCC 0.701000 102 8 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196664189 196664189 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:196664189G>A uc002utj.4 - 54 10285 c.10184C>T c.(10183-10185)cCa>cTa p.P3395L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3395 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTGCAACATTGGAATAACCTA 0.353000 74 6 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119626013 119626013 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:119626013C>T uc004bjt.2 - 10 1838 c.1737_splice c.e10-1 p.R579_splice ASTN2_uc022bml.1_Splice_Site_p.R275_splice|ASTN2_uc022bmm.1_Splice_Site_p.R279_splice NM_014010 NP_054729 O75129 ASTN2_HUMAN Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA. 630 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGCTTCTTCCCTTGGAGAGAA 0.423000 12 3 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24390604 24390604 + Missense_Mutation SNP C T T rs142799431 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:24390604C>T uc001bin.4 - 29 3743 c.3580G>A c.(3580-3582)Gat>Aat p.D1194N MYOM3_uc001bil.4_Missense_Mutation_p.D87N|MYOM3_uc001bim.4_Missense_Mutation_p.D851N NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 1194 Ig-like C2-type 3. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TCCCCTCGATCGTCAGAAACC 0.552000 77 5 0 0 1 0 0 KRT9 3857 broad.mit.edu 37 17 39727686 39727686 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39727686C>T uc002hxe.4 - 0 625 c.559G>A c.(559-561)Gat>Aat p.D187N JUP_uc010wfs.2_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN Homo sapiens keratin 9 (KRT9), mRNA. 187 Coil 1A.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) TCGTACCAATCCTGGATCTTA 0.488000 118 6 0 0 1 0 0 PRKG2 5593 broad.mit.edu 37 4 82125844 82125844 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:82125844C>T uc003hmh.2 - 0 371 c.358G>A c.(358-360)Gga>Aga p.G120R PRKG2_uc011cch.1_Missense_Mutation_p.G120R NM_006259 NP_006250 Q13237 KGP2_HUMAN Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA. 120 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 GCCTTTGCTCCCCTCCTGCTA 0.537000 55 15 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98846579 98846579 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:98846579C>T uc002syo.3 + 15 2481 c.2217C>T c.(2215-2217)gtC>gtT p.V739V VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Silent_p.V258V|VWA3B_uc002sym.3_Silent_p.V739V|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Silent_p.V396V|VWA3B_uc002syp.1_Silent_p.V131V|VWA3B_uc002syq.1_Silent_p.V15V|VWA3B_uc002syr.1_Silent_p.V56V NM_144992 NP_659429 Q502W6 VWA3B_HUMAN Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA. 739 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 AATCTGATGTCGATTCAACAC 0.388000 44 6 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16577468 16577468 + Silent SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:16577468A>G uc001ayg.3 - 9 2067 c.1851T>C c.(1849-1851)atT>atC p.I617I FBXO42_uc001ayf.3_Silent_p.I524I NM_018994 NP_061867 Q6P3S6 FBX42_HUMAN Homo sapiens F-box protein 42 (FBXO42), mRNA. 617 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) GGCGGCGAGCAATGGGAGGTA 0.582000 197 15 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212799454 212799454 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:212799454G>A uc010pth.1 - 0 c.660C>T FAM71A_uc001hjk.3_Missense_Mutation_p.R412Q Q8IYT1 FA71A_HUMAN Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) GGAAGGGAGCGAACCCAGGCC 0.622000 37 17 0 0 1 0 0 LOC649330 649330 broad.mit.edu 37 1 12907576 12907576 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12907576C>T uc010obf.2 - 1 793 c.567G>A c.(565-567)caG>caA p.Q189Q LOC649330_uc009vno.2_Silent_p.Q189Q NM_001013631 NP_001013653 B7ZW38 B7ZW38_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA. 189 nucleic acid binding|nucleotide binding TCTGTTTTATCTGGGTCAACT 0.428000 126 44 0 0 1 0 0 C11orf2 738 broad.mit.edu 37 11 64878954 64878954 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:64878954C>T uc001ocr.1 + 9 2284 c.2244C>T c.(2242-2244)ctC>ctT p.L748L TM7SF2_uc001oct.3_5'Flank|TM7SF2_uc010rny.2_5'Flank|TM7SF2_uc001ocu.3_5'Flank|TM7SF2_uc001ocv.3_5'Flank|C11orf2_uc001ocs.1_Silent_p.L624L NM_013265 NP_037397 Q9UID3 FFR_HUMAN Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA. 748 lipid transport|protein transport Golgi apparatus|integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1) 15 ACGAAGAACTCGTGCACTTGC 0.637000 46 4 0 0 1 0 0 SLC13A5 284111 broad.mit.edu 37 17 6606343 6606343 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:6606343G>A uc002gdj.3 - 4 750 c.662C>T c.(661-663)aCc>aTc p.T221I SLC13A5_uc010clq.3_Missense_Mutation_p.T178I|SLC13A5_uc002gdk.3_Missense_Mutation_p.T204I|SLC13A5_uc010vtf.2_Missense_Mutation_p.T221I|SLC13A5_uc002gdl.1_Missense_Mutation_p.T203I NM_177550 NP_808218 Q86YT5 S13A5_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA. 221 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 CAGGGTGGCGGTGCCCCCGAT 0.632000 95 5 0 0 1 0 0 PRDM11 56981 broad.mit.edu 37 11 45203369 45203369 + Missense_Mutation SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:45203369G>T uc001myo.3 + 2 403 c.154G>T c.(154-156)Gat>Tat p.D52Y NM_020229 NP_064614 Q9NQV5 PRD11_HUMAN Homo sapiens PR domain containing 11 (PRDM11), mRNA. 52 endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 AGCCGTGGGGGATATGGTGAC 0.602000 45 9 0.00448238 0.00451751 1 1 0 MDGA1 266727 broad.mit.edu 37 6 37622190 37622191 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:37622190_37622191GG>AA uc003onu.1 - 5 2020_2021 c.841_842CC>TT c.(841-843)cca>TTa p.P281L MDGA1_uc003onw.3_5'Flank NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA. 281 Ig-like 3. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 CAGGGGCAGTGGGCCAGGCCCA 0.639000 32 4 0 0 1 0 0 TTC4 7268 broad.mit.edu 37 1 55186844 55186844 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:55186844C>T uc001cxv.3 + 3 565 c.433C>T c.(433-435)Cgt>Tgt p.R145C HEATR8_uc001cxq.3_Non-coding_Transcript|TTC4_uc001cxx.4_Missense_Mutation_p.R134C O95801 TTC4_HUMAN Homo sapiens tetratricopeptide repeat domain 4 (TTC4), mRNA. 134 binding breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1) 9 AGGCAATTTTCGTTCTGCTCT 0.358000 15 3 0 0 1 0 0 C3orf70 285382 broad.mit.edu 37 3 184801295 184801295 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:184801295G>A uc003fpd.3 - 1 444 c.253C>T c.(253-255)Cct>Tct p.P85S NM_001025266 NP_001020437 A6NLC5 CC070_HUMAN Homo sapiens chromosome 3 open reading frame 70 (C3orf70), mRNA. 85 breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1) 13 GGCCTGGCAGGAATCTCAGTG 0.473000 72 5 0 0 1 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55044985 55044985 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55044985G>A uc010yfa.1 + 2 c.211G>A KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA. endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) CAGCCTGGCCGAGCCCTGTGG 0.572000 45 5 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71508806 71508806 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:71508806C>A uc011caw.1 + 8 1944 c.1663C>A c.(1663-1665)Cct>Act p.P555T NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN Homo sapiens enamelin (ENAM), mRNA. 555 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AATCCCTTCTCCTGCAAAAGA 0.423000 90 6 0.00198382 0.00200053 1 1 0 VIL1 7429 broad.mit.edu 37 2 219290451 219290451 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:219290451C>T uc002vib.3 + 2 286 c.264C>T c.(262-264)ttC>ttT p.F88F VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Silent_p.F88F|VIL1_uc002vic.1_Silent_p.F88F NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 88 Core.|Necessary for homodimerization. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGATGACTTCCTGAAGGGCC 0.612000 94 5 0 0 1 0 0 OR4F6 390648 broad.mit.edu 37 15 102346157 102346157 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:102346157C>T uc010utr.2 + 0 235 c.235C>T c.(235-237)Ccc>Tcc p.P79S NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA. 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) CTCCACAGCTCCCAAGATGAT 0.463000 122 14 0 0 1 0 0 FERMT3 83706 broad.mit.edu 37 11 63979141 63979141 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:63979141C>T uc001nyl.2 + 5 857 c.708C>T c.(706-708)ctC>ctT p.L236L FERMT3_uc001nym.2_Silent_p.L236L NM_178443 NP_848537 Q86UX7 URP2_HUMAN Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA. 236 FERM. integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 CGCGGTGTCTCATGCAGCAGG 0.672000 71 14 0 0 1 0 0 SLC4A8 9498 broad.mit.edu 37 12 51887520 51887520 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:51887520C>T uc001rys.1 + 19 2911 c.2733C>T c.(2731-2733)ttC>ttT p.F911F SLC4A8_uc001rym.3_Silent_p.F858F|SLC4A8_uc001ryn.3_Silent_p.F858F|SLC4A8_uc001ryo.2_Silent_p.F858F|SLC4A8_uc010snj.2_Silent_p.F938F|SLC4A8_uc001ryr.3_Silent_p.F911F NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA. 911 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) ACGGAGTTTTCCTTTACATGG 0.413000 125 17 0 0 1 0 0 KLRG1 10219 broad.mit.edu 37 12 9147804 9147804 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:9147804G>A uc001qvh.3 + 2 288 c.277G>A c.(277-279)Gaa>Aaa p.E93K KLRG1_uc001qvg.3_Missense_Mutation_p.E93K NM_005810 NP_005801 Q96E93 KLRG1_HUMAN Homo sapiens killer cell lectin-like receptor subfamily G, member 1 (KLRG1), mRNA. 93 C-type lectin. cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response integral to membrane receptor activity|sugar binding p.E93Q(2)|p.E92K(1) breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 8 CTCAGTGGAGGAAAAGGACTG 0.448000 9 4 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55133465 55133465 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:55133465G>A uc003han.4 + 5 1100 c.769G>A c.(769-771)Ggc>Agc p.G257S PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.G151S|PDGFRA_uc003ham.2_Non-coding_Transcript NM_006206 NP_006197 P16234 PGFRA_HUMAN Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA. 257 Ig-like C2-type 3. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GAAAGGCAAAGGCATCACAAT 0.443000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 44 4 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140306915 140306915 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140306915G>A uc003lih.2 + 0 614 c.438G>A c.(436-438)ccG>ccA p.P146P PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.P146P NM_018898 NP_061721 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA. 170 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.P146L(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTACTCTCCCGAATGCCCAAG 0.592000 62 7 0 0 1 0 0 GSTA1 2938 broad.mit.edu 37 6 52657764 52657764 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:52657764C>T uc003paz.3 - 5 548 c.436G>A c.(436-438)Gac>Aac p.D146N GSTA1_uc021zan.1_Missense_Mutation_p.D146N NM_145740 NP_665683 P08263 GSTA1_HUMAN Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA. 146 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 12 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) ACAAGGTAGTCTTGTCCATGG 0.532000 66 10 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3102723 3102723 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:3102723C>T uc001akf.3 + 1 154 c.72C>T c.(70-72)ccC>ccT p.P24P PRDM16_uc001ake.3_Silent_p.P24P|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Silent_p.P24P NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 24 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) TGTATGAGCCCAACCGGGACC 0.632000 T EVI1 """MDS, AML""" 94 6 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48267003 48267003 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:48267003C>T uc003toq.2 + 5 637 c.613C>T c.(613-615)Ctt>Ttt p.L205F ABCA13_uc003top.2_Missense_Mutation_p.L205F|ABCA13_uc010kyr.2_5'UTR NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 205 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGCAGTGAACCTTCTCCAGAC 0.353000 19 3 0 0 1 0 0 NARS2 79731 broad.mit.edu 37 11 78147750 78147750 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:78147750G>A uc001ozi.3 - 13 1776 c.1400C>T c.(1399-1401)cCt>cTt p.P467L NARS2_uc010rsq.2_Missense_Mutation_p.P240L NM_024678 NP_001230180 Q96I59 SYNM_HUMAN Homo sapiens asparaginyl-tRNA synthetase 2, mitochondrial (putative) (NARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 467 asparaginyl-tRNA aminoacylation mitochondrial matrix ATP binding|asparagine-tRNA ligase activity|nucleic acid binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1) 27 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) CCTTGGGAAAGGGATAACATC 0.463000 111 8 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47570385 47570385 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:47570385G>A uc002pga.4 - 14 3178 c.3140C>T c.(3139-3141)tCt>tTt p.S1047F ZC3H4_uc002pgb.1_Non-coding_Transcript NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA. 1047 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GAGGATGCGAGACAGAAGTTC 0.706000 33 11 0 0 1 0 0 DEGS1 8560 broad.mit.edu 37 1 224377347 224377347 + Missense_Mutation SNP G C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:224377347G>C uc001hoj.3 + 1 280 c.151G>C c.(151-153)Gtt>Ctt p.V51L NM_003676 NP_003667 O15121 DEGS1_HUMAN Homo sapiens delta(4)-desaturase, sphingolipid 1 (DEGS1), mRNA. 51 sphingolipid metabolic process|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity breast(1)|kidney(3)|large_intestine(2)|lung(4) 10 Breast(184;0.193) GBM - Glioblastoma multiforme(131;0.00643) AATTATGATGGTTCTCACCCA 0.368000 77 13 0 0 1 0 0 OR10P1 121130 broad.mit.edu 37 12 56031272 56031272 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:56031272C>T uc010spq.2 + 0 597 c.597C>T c.(595-597)tcC>tcT p.S199S NM_206899 NP_996782 Q8NGE3 O10P1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA. 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 GCGAGATCTCCGTGATGACAG 0.547000 85 5 0 0 1 0 0 OR8B12 219858 broad.mit.edu 37 11 124413072 124413072 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:124413072C>T uc010sam.2 - 0 479 c.479G>A c.(478-480)gGa>gAa p.G160E NM_001005195 NP_001005195 Q8NGG6 OR8BC_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA. 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G160E(2) breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) CATTATGCTTCCTGTGTGGGC 0.502000 14 4 0 0 1 0 0 ODZ1 10178 broad.mit.edu 37 X 123539081 123539081 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:123539081C>T uc010nqy.3 - 26 5255 c.5191G>A c.(5191-5193)Ggt>Agt p.G1731S ODZ1_uc011muj.2_Missense_Mutation_p.G1730S|ODZ1_uc004euj.3_Missense_Mutation_p.G1724S NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 1724 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 CGCAGGGAACCATCTGGATTC 0.537000 9 6 0 0 1 0 0 TUBB7P 56604 broad.mit.edu 37 4 190903874 190903874 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:190903874T>C uc011clg.2 - 3 1111 c.893A>G c.(892-894)aAc>aGc p.N298S Q99867 TBB4Q_HUMAN Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system. 370 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity GGCTGTGTTGTTCCCAGTGAA 0.547000 110 6 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77973170 77973170 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:77973170C>T uc003ugx.3 - 8 1587 c.1333G>A c.(1333-1335)Gag>Aag p.E445K MAGI2_uc003ugy.3_Missense_Mutation_p.E445K|MAGI2_uc010ldx.1_Missense_Mutation_p.E54K|MAGI2_uc010ldy.1_Missense_Mutation_p.E54K|MAGI2_uc011kgr.1_Missense_Mutation_p.E277K|MAGI2_uc011kgs.1_Missense_Mutation_p.E282K NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA. 445 PDZ 2. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TCATCAGGCTCGTCTCCACCA 0.478000 42 6 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38738878 38738878 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:38738878C>T uc003ciq.3 - 26 5833 c.5833G>A c.(5833-5835)Gaa>Aaa p.E1945K NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1945 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CTGGTGGCTTCATCTTCATTT 0.478000 56 5 0 0 1 0 0 TDO2 6999 broad.mit.edu 37 4 156835556 156835556 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:156835556G>A uc003ipf.1 + 7 872 c.808G>A c.(808-810)Gag>Aag p.E270K NM_005651 NP_005642 P48775 T23O_HUMAN Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA. 270 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity p.E270D(1) breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) CTTATTTGATGAGAAACGTCA 0.353000 14 4 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7808467 7808467 + Silent SNP C T T rs146189491 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:7808467C>T uc002gjd.2 + 25 4301 c.4299C>T c.(4297-4299)ttC>ttT p.F1433F CHD3_uc002gje.2_Silent_p.F1374F|CHD3_uc002gjf.2_Silent_p.F1374F|CHD3_uc002gjh.2_5'UTR|SCARNA21_uc002gji.1_5'Flank NM_001005271 NP_001005271 Q12873 CHD3_HUMAN Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA. 1374 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) ATGAAGACTTCGATGAACGTC 0.512000 64 5 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11738872 11738872 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:11738872T>C uc002rbk.1 + 14 2519 c.2219T>C c.(2218-2220)cTg>cCg p.L740P GREB1_uc002rbo.1_Missense_Mutation_p.L374P NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA. 740 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CAGTATGTTCTGAAGCTAGAC 0.458000 93 13 0 0 1 0 0 AGXT 189 broad.mit.edu 37 2 241814562 241814562 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:241814562C>T uc002waa.4 + 6 838 c.717C>T c.(715-717)tcC>tcT p.S239S AGXT_uc002wab.4_5'Flank NM_000030 NP_000021 P21549 SPYA_HUMAN Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA. 239 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) AGCCCTTCTCCTTCTACCTGG 0.602000 62 8 0 0 1 0 0 MKLN1 4289 broad.mit.edu 37 7 131151038 131151038 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:131151038C>T uc011kpm.2 + 14 1856 c.1792C>T c.(1792-1794)Cat>Tat p.H598Y MKLN1_uc011kpl.2_Missense_Mutation_p.H575Y|MKLN1_uc010lmh.2_Missense_Mutation_p.H598Y|MKLN1_uc003vqs.3_Missense_Mutation_p.H391Y|MKLN1_uc003vqu.3_Missense_Mutation_p.H88Y NM_013255 NP_037387 Q9UL63 MKLN1_HUMAN Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA. 598 signal transduction cytoplasm protein binding p.H598D(2)|p.V597I(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) ATTATAGGTTCATTACTTATT 0.358000 86 8 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72163011 72163011 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:72163011C>T uc002fcc.4 - 12 2091 c.1919G>A c.(1918-1920)gGa>gAa p.G640E PMFBP1_uc002fcd.3_Missense_Mutation_p.G635E|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Missense_Mutation_p.G490E|PMFBP1_uc010cgo.1_5'Flank NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 640 p.A639T(1) NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TTCAAGTTCTCCCTCCATCAG 0.488000 215 19 0 0 1 0 0 FATE1 89885 broad.mit.edu 37 X 150889963 150889963 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:150889963C>T uc004fex.3 + 2 415 c.331C>T c.(331-333)Cat>Tat p.H111Y NM_033085 NP_149076 Q969F0 FATE1_HUMAN Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA. 111 endoplasmic reticulum|integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1) 15 Acute lymphoblastic leukemia(192;6.56e-05) CATACGTTTCCATTATGATCG 0.602000 29 18 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130343217 130343217 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:130343217C>T uc010scd.2 + 7 2354 c.2354C>T c.(2353-2355)tCc>tTc p.S785F NM_139055 NP_620686 Q8TE58 ATS15_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA. 785 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GAGGTCCTCTCCGTGGGGAAG 0.672000 103 5 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152720790 152720790 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:152720790G>A uc021zhb.1 - 45 7421 c.7198C>T c.(7198-7200)Cag>Tag p.Q2400* SYNE1_uc003qot.4_Nonsense_Mutation_p.Q2407*|SYNE1_uc003qou.4_Nonsense_Mutation_p.Q2400*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.Q2383* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 2400 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGGCTGGCCTGGGTTTTGGAG 0.507000 HNSCC(10;0.0054) 70 5 0 0 1 0 0 IRF9 10379 broad.mit.edu 37 14 24633331 24633331 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:24633331C>T uc001wmq.3 + 5 1457 c.637C>T c.(637-639)Cct>Tct p.P213S RNF31_uc001wmp.3_Non-coding_Transcript|IRF9_uc010alj.3_Missense_Mutation_p.P111S NM_006084 NP_006075 Q00978 IRF9_HUMAN Homo sapiens interferon regulatory factor 9 (IRF9), mRNA. 213 interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(265;0.00853) GTTTCTGCTTCCTCCAGAGCC 0.532000 82 9 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39229746 39229746 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:39229746G>A uc003cjk.2 - 1 1420 c.1191C>T c.(1189-1191)gtC>gtT p.V397V XIRP1_uc003cji.3_Silent_p.V397V|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.V397V NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 397 actin binding p.K396E(1) breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GACCCACTTGGACCTTGTCTC 0.592000 159 19 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3221963 3221963 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:3221963C>T uc021xkv.1 + 52 7442 c.7297C>T c.(7297-7299)Cct>Tct p.P2433S NM_002111 NP_002102 P42858 HD_HUMAN Homo sapiens huntingtin (HTT), mRNA. 2433 Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CACAGCATTCCCTGAGATCCC 0.512000 113 11 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37172795 37172795 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:37172795C>T uc022abv.1 - 13 1841 c.1131G>A c.(1129-1131)ggG>ggA p.G377G ELMO1_uc011kbc.2_Silent_p.G281G|ELMO1_uc003tfk.2_Silent_p.G377G|ELMO1_uc010kxg.2_Silent_p.G377G NM_001206482 NP_001193411 Q92556 ELMO1_HUMAN Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA. 377 ELMO. Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GAGCCAACATCCCAGGTGGAG 0.453000 54 11 0 0 1 0 0 RNF5P1 286140 broad.mit.edu 37 8 38458362 38458362 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:38458362G>A uc003xly.3 - 0 414 c.357C>T c.(355-357)ttC>ttT p.F119F Homo sapiens ring finger protein 5 pseudogene 1 (RNF5P1), non-coding RNA. ATGAGAAGTGGAAGCCCCCGG 0.572000 345 21 0 0 1 0 0 ACSS2 55902 broad.mit.edu 37 20 33500982 33500982 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:33500982G>A uc010gey.2 + 2 579 c.458G>A c.(457-459)cGa>cAa p.R153Q ACSS2_uc002xbc.2_Missense_Mutation_p.R58Q|ACSS2_uc010zum.1_Intron|ACSS2_uc002xbd.2_Missense_Mutation_p.R153Q|ACSS2_uc002xbe.2_Intron NM_001076552 NP_001070020 Q9NR19 ACSA_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA. 153 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus ATP binding|acetate-CoA ligase activity|protein binding cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9) 21 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) AATGTTCTCCGAAAACAGGGT 0.532000 68 5 0 0 1 0 0 SNRNP200 23020 broad.mit.edu 37 2 96950135 96950135 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:96950135G>A uc002svu.3 - 30 4485 c.4353C>T c.(4351-4353)ttC>ttT p.F1451F SNRNP200_uc002svt.3_Silent_p.F61F|SNRNP200_uc010yuj.2_Non-coding_Transcript|SNRNP200_uc002svv.1_5'UTR NM_014014 NP_054733 O75643 U520_HUMAN Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA. 1451 Helicase ATP-binding 2. U5 snRNP|catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 CATCCACCACGAAGAGGTTGA 0.557000 50 15 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55143576 55143576 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55143576C>T uc002qgj.3 + 5 889 c.549C>T c.(547-549)tcC>tcT p.S183S LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.S183S|LILRB1_uc002qgk.3_Silent_p.S183S|LILRB1_uc002qgm.3_Silent_p.S183S|LILRB1_uc010erq.3_Silent_p.S183S|LILRB1_uc010err.3_Non-coding_Transcript NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA. 183 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity p.F182F(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CCATCTTCTCCGTGGGCCCCG 0.577000 HNSCC(37;0.09) 96 15 0 0 1 0 0 THAP4 51078 broad.mit.edu 37 2 242572423 242572423 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:242572423G>A uc002wbt.3 - 1 1442 c.1149C>T c.(1147-1149)tcC>tcT p.S383S NM_015963 NP_057047 Q8WY91 THAP4_HUMAN Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA. 383 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) CCTGGCTGTCGGAGCGGCTGA 0.637000 32 4 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113444379 113444379 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:113444379C>T uc001tuj.3 + 7 1770 c.1630C>T c.(1630-1632)Cgc>Tgc p.R544C OAS2_uc001tui.1_Missense_Mutation_p.R544C NM_016817 NP_058197 P29728 OAS2_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA. 544 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|RNA binding|nucleotidyltransferase activity NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GGATTTAATTCGCCTGGTGAA 0.473000 86 7 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124351025 124351025 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:124351025C>T uc001lgk.1 + 18 2274 c.2168C>T c.(2167-2169)tCg>tTg p.S723L DMBT1_uc001lgl.1_Missense_Mutation_p.S713L|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.S723L|DMBT1_uc021qag.1_Missense_Mutation_p.S713L|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.S723L|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 723 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TTACCTCCATCGACAGTAGGT 0.453000 242 19 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24922732 24922732 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:24922732C>T uc001ywo.3 + 0 2192 c.1718C>T c.(1717-1719)cCt>cTt p.P573L NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 573 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GCGGTAGACCCTGAAGTAGTT 0.458000 75 5 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56373378 56373378 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:56373378C>T uc002qmd.4 + 4 2461 c.2039C>T c.(2038-2040)tCt>tTt p.S680F NLRP4_uc002qmf.3_Missense_Mutation_p.S605F|NLRP4_uc010etf.3_Missense_Mutation_p.S511F NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 680 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GTTTCCTTTTCTGGCCAGAGT 0.433000 53 6 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45774547 45774547 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:45774547C>T uc010gpt.1 + 1 282 c.182C>T c.(181-183)tCg>tTg p.S61L TRPM2_uc002zet.1_Missense_Mutation_p.S61L|TRPM2_uc002zeu.1_Missense_Mutation_p.S61L|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.S61L NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 61 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 AGCCTCAGTTCGTGGATTCCT 0.458000 77 11 0 0 1 0 0 DTWD1 56986 broad.mit.edu 37 15 49917396 49917396 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:49917396G>A uc001zxq.3 + 2 309 c.32G>A c.(31-33)cGa>cAa p.R11Q DTWD1_uc001zxp.4_Non-coding_Transcript|DTWD1_uc001zxs.3_Missense_Mutation_p.R11Q|DTWD1_uc001zxr.3_5'UTR NM_020234 NP_064619 Q8N5C7 DTWD1_HUMAN Homo sapiens DTW domain containing 1 (DTWD1), transcript variant 1, mRNA. 11 endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;0.0384) all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05) TTTCTCAAACGAAGTGAAGAA 0.328000 9 7 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139151308 139151308 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:139151308G>A uc003yuy.3 - 17 3993 c.3822C>T c.(3820-3822)tcC>tcT p.S1274S FAM135B_uc003yux.3_Silent_p.S1175S|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 1274 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTAGAGACCCGGATTTCTTCA 0.403000 HNSCC(54;0.14) 64 6 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1269216 1269216 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:1269216G>A uc001lta.3 + 30 11165 c.11106G>A c.(11104-11106)acG>acA p.T3702T NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 3702 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CAGCCACTACGACTGAGTCCA 0.667000 173 19 0 0 1 0 0 C17orf57 124989 broad.mit.edu 37 17 45456599 45456599 + Missense_Mutation SNP G A A rs144068587 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:45456599G>A uc002iln.3 + 13 1993 c.1562G>A c.(1561-1563)cGa>cAa p.R521Q C17orf57_uc002ilm.3_Missense_Mutation_p.R425Q|C17orf57_uc010daz.1_Missense_Mutation_p.R473Q NM_152347 NP_689560 Q8IY85 CQ057_HUMAN Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA. 521 EF-hand 1. calcium ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3) 36 GCCAAGGAGCGAAGTTTTCCT 0.363000 36 6 0 0 1 0 0 PRODH2 58510 broad.mit.edu 37 19 36297438 36297438 + Missense_Mutation SNP C T T rs148473605 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:36297438C>T uc002obx.1 - 7 1141 c.1123G>A c.(1123-1125)Gga>Aga p.G375R NM_021232 NP_067055 Q9UF12 PROD2_HUMAN Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA. 375 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGCTTCACTCCGAAGGCCAGG 0.627000 98 9 0 0 1 0 0 TNNT2 7139 broad.mit.edu 37 1 201331106 201331106 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:201331106C>T uc001gwf.3 - 12 714 c.645G>A c.(643-645)aaG>aaA p.K215K TNNT2_uc009wzn.3_5'Flank|TNNT2_uc009wzo.3_5'Flank|TNNT2_uc009wzp.3_Non-coding_Transcript|TNNT2_uc021phc.1_Silent_p.K208K|TNNT2_uc001gwg.3_Silent_p.K205K|TNNT2_uc001gwh.3_Silent_p.K196K|TNNT2_uc001gwi.3_Silent_p.K175K|TNNT2_uc009wzr.3_Silent_p.K146K NM_000364 NP_000355 P45379 TNNT2_HUMAN Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA. 218 R -> L (in CMD1D). ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9) 20 GAATCTTCTTCTTCTTTTCCC 0.577000 OREG0014076 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 173 7 0 0 1 0 0 MCM5 4174 broad.mit.edu 37 22 35812752 35812752 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:35812752C>T uc003anu.4 + 11 1629 c.1535C>T c.(1534-1536)tCg>tTg p.S512L MCM5_uc003anv.4_Missense_Mutation_p.S469L|MCM5_uc010gws.2_Non-coding_Transcript|MCM5_uc003anw.1_Missense_Mutation_p.S296L NM_006739 NP_006730 P33992 MCM5_HUMAN Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA. 512 MCM. DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex ATP binding|DNA binding|helicase activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 ACCATCTTGTCGCGCTTCGAC 0.597000 99 10 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37270685 37270686 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:37270685_37270686CC>TT uc001caz.2 - 14 2602_2603 c.2467_2468GG>AA c.(2467-2469)ggc>AAc p.G823N GRIK3_uc001cba.1_Missense_Mutation_p.G823N NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 823 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) AATGAAGATGCCCCCGATCTTC 0.594000 104 8 0 0 1 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60349337 60349337 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:60349337C>T uc002izq.2 - 4 323 c.211G>A c.(211-213)Gag>Aag p.E71K TBC1D3P2_uc010woz.2_Non-coding_Transcript|DQ571391_uc010wpa.1_5'Flank|DQ580080_uc021ubh.1_5'Flank Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA. breast(2)|kidney(1)|lung(2) 5 CGGCTGATCTCCCGCCGAATT 0.557000 417 27 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90318032 90318032 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:90318032C>T uc004apc.3 + 24 3098 c.2960C>T c.(2959-2961)tCg>tTg p.S987L DAPK1_uc004apd.3_Missense_Mutation_p.S987L|DAPK1_uc011ltg.2_Missense_Mutation_p.S921L|DAPK1_uc011lth.2_Missense_Mutation_p.S724L NM_004938 NP_004929 P53355 DAPK1_HUMAN Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA. 987 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 CAGCTGATGTCGCTGCAGCAG 0.597000 Chronic Lymphocytic Leukemia, Familial Clustering of 62 5 0 0 1 0 0 SCGN 10590 broad.mit.edu 37 6 25689716 25689716 + Nonsense_Mutation SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:25689716G>T uc003nfb.3 + 8 792 c.589G>T c.(589-591)Gaa>Taa p.E197* SCGN_uc010jpz.3_Nonsense_Mutation_p.E88* NM_006998 NP_008929 O76038 SEGN_HUMAN Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA. 197 EF-hand 5. extracellular region|transport vesicle membrane calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 TTCTACTGAAGAAAGGAAAAG 0.388000 53 6 0.248553 0.249631 1 1 0 SLC2A10 81031 broad.mit.edu 37 20 45354272 45354272 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:45354272C>T uc002xsl.3 + 1 694 c.597C>T c.(595-597)atC>atT p.I199I NM_030777 NP_110404 O95528 GTR10_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA. 199 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) AGGACCTCATCCCACTCCAGG 0.622000 74 9 0 0 1 0 0 RBM18 92400 broad.mit.edu 37 9 125004171 125004171 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:125004171G>A uc004bma.2 - 5 731 c.565C>T c.(565-567)Cga>Tga p.R189* RBM18_uc004blz.2_Non-coding_Transcript|RBM18_uc010mvy.2_Non-coding_Transcript|RBM18_uc011lyp.1_Non-coding_Transcript NM_033117 NP_149108 Q96H35 RBM18_HUMAN Homo sapiens RNA binding motif protein 18 (RBM18), transcript variant 1, mRNA. 189 RNA binding|nucleotide binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 7 CATCATCTTCGAGATTTCCAT 0.403000 30 5 0 0 1 0 0 AMPD2 271 broad.mit.edu 37 1 110168004 110168004 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:110168004C>T uc009wfh.1 + 2 875 c.333C>T c.(331-333)ttC>ttT p.F111F AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Silent_p.F30F|AMPD2_uc001dyc.1_Silent_p.F111F|AMPD2_uc010ovr.1_Intron|AMPD2_uc010ovs.1_5'UTR|AMPD2_uc001dyd.1_5'Flank NM_004037 NP_004028 Q01433 AMPD2_HUMAN Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA. 111 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) TCAAGCACTTCCCGCTCGACC 0.677000 94 27 0 0 1 0 0 KRTAP1-3 81850 broad.mit.edu 37 17 39191045 39191045 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39191045C>T uc002hvv.3 - 0 63 c.29G>A c.(28-30)gGa>gAa p.G10E NM_030966 NP_112228 Q8IUG1 KRA13_HUMAN Homo sapiens keratin associated protein 1-3 (KRTAP1-3), mRNA. 10 extracellular region|keratin filament structural constituent of epidermis p.C9S(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCTGGGATATCCACAGAAGCT 0.587000 62 4 0 0 1 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12943161 12943161 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12943161G>A uc001aun.2 - 1 126 c.55C>T c.(55-57)Ctg>Ttg p.L19L NM_001009611 NP_001009611 O60810 PRAM4_HUMAN Homo sapiens PRAME family member 4 (PRAMEF4), mRNA. 19 p.L19M(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCCCTTAGCAGGCTCCGCCCT 0.562000 191 14 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141607771 141607771 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:141607771G>A uc002tvj.1 - 28 5811 c.4839C>T c.(4837-4839)ttC>ttT p.F1613F LRP1B_uc010fnl.1_Silent_p.F795F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 1613 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.D1612D(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGATGCATCGAAGTCTATCA 0.373000 TSP Lung(27;0.18) 24 6 0 0 1 0 0 GH2 2689 broad.mit.edu 37 17 61958002 61958002 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:61958002G>A uc002jcl.1 - 3 648 c.586C>T c.(586-588)Ccc>Tcc p.P196S GH2_uc002jcn.1_Intron|GH2_uc002jco.1_Intron|GH2_uc002jcm.1_Intron NM_022557 NP_072051 P01242 SOM2_HUMAN Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA. 0 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 TTCACGAGGGGAAATGAAGAA 0.562000 113 14 0 0 1 0 0 POLA2 23649 broad.mit.edu 37 11 65061632 65061632 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:65061632C>T uc001odj.3 + 13 1585 c.1253C>T c.(1252-1254)tCc>tTc p.S418F POLA2_uc010rod.1_Missense_Mutation_p.S210F|POLA2_uc001odk.3_Missense_Mutation_p.S115F NM_002689 NP_002680 Q14181 DPOA2_HUMAN Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA. 418 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) AGCTCCGGCTCCCACCTTGTC 0.522000 446 32 0 0 1 0 0 P4HB 5034 broad.mit.edu 37 17 79813082 79813082 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:79813082G>A uc002kbn.1 - 3 757 c.560C>T c.(559-561)aCt>aTt p.T187I P4HB_uc002kbm.1_5'UTR NM_000918 NP_000909 P07237 PDIA1_HUMAN Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA. 187 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) ACTGTTGGAAGTGATCCCAAA 0.532000 247 19 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168112875 168112875 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:168112875G>A uc010jjg.3 - 30 3813 c.3393C>T c.(3391-3393)gaC>gaT p.D1131D SLIT3_uc003mab.3_Silent_p.D1124D NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 1124 EGF-like 6. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACTCGTACTGGTCGCATGGGC 0.642000 27 4 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101549206 101549206 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:101549206C>T uc002bwr.3 + 6 1246 c.927C>T c.(925-927)ctC>ctT p.L309L LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA. 309 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGCTGAACCTCTCCGACAACC 0.632000 OREG0023521 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 6 0 0 1 0 0 LAIR1 3903 broad.mit.edu 37 19 54871658 54871658 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:54871658G>A uc002qfk.1 - 3 696 c.386C>T c.(385-387)tCc>tTc p.S129F LAIR1_uc002qfl.1_Intron|LAIR1_uc002qfm.1_Missense_Mutation_p.S128F|LAIR1_uc002qfn.1_Intron|LAIR1_uc010yex.2_Missense_Mutation_p.S122F|LAIR1_uc002qfo.3_Missense_Mutation_p.S111F NM_002287 NP_002278 Q6GTX8 LAIR1_HUMAN Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA. 129 integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) TGTGTCCGGGGAGTCCGGGCC 0.622000 58 4 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808509 18808509 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:18808509G>A uc001bax.3 + 0 1086 c.1034G>A c.(1033-1035)aGa>aAa p.R345K KLHDC7A_uc009vpg.3_Missense_Mutation_p.R127K NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA. 345 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GCAGCCGAAAGAGCCGCCTCC 0.677000 20 5 0 0 1 0 0 GOLGA6A 342096 broad.mit.edu 37 15 74363359 74363359 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:74363359C>T uc002axa.1 - 17 2015 c.1974G>A c.(1972-1974)ctG>ctA p.L658L DQ572823_uc010ulg.2_5'Flank|DQ582073_uc021sqc.1_5'Flank NM_001038640 NP_001033729 Q9NYA3 GOG6A_HUMAN Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA. 658 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1) 16 CGTTGTTGTCCAGGCTCACTT 0.622000 98 5 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198340 170198340 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:170198340G>A uc003fgz.2 - 6 2047 c.1731C>T c.(1729-1731)ttC>ttT p.F577F CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA. 577 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) AGCAGAAGATGAACATGAGGA 0.562000 33 4 0 0 1 0 0 SLC39A8 64116 broad.mit.edu 37 4 103189035 103189035 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:103189035C>T uc003hwb.1 - 5 1571 c.1042G>A c.(1042-1044)Gag>Aag p.E348K SLC39A8_uc011ceo.1_Missense_Mutation_p.E348K|SLC39A8_uc003hwa.1_Missense_Mutation_p.E281K|SLC39A8_uc003hwc.2_Missense_Mutation_p.E348K NM_022154 NP_071437 Q9C0K1 S39A8_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA. 348 integral to membrane|organelle membrane|plasma membrane zinc ion transmembrane transporter activity p.H347H(1) large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Hepatocellular(203;0.217) all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142) TTACCTAACTCGTGGGGAAAC 0.448000 12 4 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51175596 51175596 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:51175596G>A uc021tif.1 - 1 568 c.246C>T c.(244-246)ctC>ctT p.L82L SALL1_uc021tid.1_Silent_p.L82L|SALL1_uc021tie.1_Silent_p.L179L|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 179 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TCAGGTCCCCGAGTTGAGGTA 0.617000 60 11 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156641393 156641393 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:156641393G>A uc001fpq.3 - 3 2720 c.2587C>T c.(2587-2589)Cta>Tta p.L863L NES_uc021pbh.1_5'Flank NM_006617 NP_006608 P48681 NEST_HUMAN Homo sapiens nestin (NES), mRNA. 863 Tail. QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780). G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCCTTTTCTAGAGGATTCATT 0.458000 98 17 0 0 1 0 0 ZNF658 26149 broad.mit.edu 37 9 40773305 40773305 + Missense_Mutation SNP G A A rs146060713 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:40773305G>A uc004abs.2 - 4 2122 c.1970C>T c.(1969-1971)cCc>cTc p.P657L ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.P657L NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN Homo sapiens zinc finger protein 658 (ZNF658), mRNA. 657 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) ACATTCATAGGGTTTCTCCCC 0.423000 63 11 0 0 1 0 0 NIPAL1 152519 broad.mit.edu 37 4 48037601 48037601 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:48037601C>T uc003gxw.3 + 5 711 c.645C>T c.(643-645)atC>atT p.I215I NM_207330 NP_997213 Q6NVV3 NIPA3_HUMAN Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA. 215 integral to membrane endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 TTGCTGTGATCATAACTGTGA 0.368000 86 5 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884053 24884053 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:24884053C>T uc001wpf.4 + 8 3416 c.3098C>T c.(3097-3099)tCc>tTc p.S1033F NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 1033 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GAGTGCCCGTCCCTTTCGGAG 0.647000 51 8 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207175457 207175457 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:207175457A>G uc002vbp.2 + 4 6455 c.6205A>G c.(6205-6207)Ata>Gta p.I2069V NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 2069 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 CCTGAGTGTAATAGTACCAGA 0.368000 25 3 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45923453 45923453 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:45923453G>A uc010zxy.1 - 4 627 c.545C>T c.(544-546)tCc>tTc p.S182F ZMYND8_uc010ghr.1_Missense_Mutation_p.S130F|ZMYND8_uc002xst.1_Missense_Mutation_p.S130F|ZMYND8_uc002xsu.1_Missense_Mutation_p.S155F|ZMYND8_uc002xsv.1_Missense_Mutation_p.S130F|ZMYND8_uc002xsw.1_5'UTR|ZMYND8_uc002xsx.1_5'UTR|ZMYND8_uc002xsy.1_Missense_Mutation_p.S130F|ZMYND8_uc002xsz.1_Intron|ZMYND8_uc002xta.1_Missense_Mutation_p.S155F|ZMYND8_uc002xtb.1_Missense_Mutation_p.S175F|ZMYND8_uc002xss.2_Missense_Mutation_p.S155F|ZMYND8_uc010zxz.1_Missense_Mutation_p.S150F|ZMYND8_uc002xtc.1_Missense_Mutation_p.S175F|ZMYND8_uc002xtd.1_Missense_Mutation_p.S150F|ZMYND8_uc002xte.1_Missense_Mutation_p.S155F|ZMYND8_uc010zya.1_Missense_Mutation_p.S155F|ZMYND8_uc002xtf.1_Missense_Mutation_p.S175F|ZMYND8_uc002xtg.3_Missense_Mutation_p.S149F|ZMYND8_uc010ghs.2_Missense_Mutation_p.S149F NM_183047 NP_898868 Q9ULU4 PKCB1_HUMAN Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA. 155 Bromo. protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GAGCAGGTAGGATAACTGTTC 0.398000 83 6 0 0 1 0 0 ISL2 64843 broad.mit.edu 37 15 76634064 76634064 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:76634064C>T uc002bbw.1 + 5 1046 c.968C>T c.(967-969)tCc>tTc p.S323F ISL2_uc021sqw.1_Non-coding_Transcript NM_145805 NP_665804 Q96A47 ISL2_HUMAN Homo sapiens ISL LIM homeobox 2 (ISL2), mRNA. 323 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 CCCCAGGTCTCCTTCTCCGAG 0.677000 95 6 0 0 1 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51645855 51645855 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:51645855C>T uc002pvv.1 + 0 298 c.229C>T c.(229-231)Cca>Tca p.P77S SIGLEC7_uc002pvw.1_Missense_Mutation_p.P77S|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Missense_Mutation_p.P77S NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA. 77 Ig-like V-type. cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) CTGGAAGGCTCCAGTGGCCAC 0.567000 81 12 0 0 1 0 0 PRKCZ 5590 broad.mit.edu 37 1 2103579 2103579 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:2103579C>T uc001aiq.3 + 11 1308 c.1147C>T c.(1147-1149)Ctc>Ttc p.L383F PRKCZ_uc001air.3_Missense_Mutation_p.L200F|PRKCZ_uc010nyw.2_Missense_Mutation_p.L279F|PRKCZ_uc001ais.3_Missense_Mutation_p.L200F|PRKCZ_uc010nyx.2_Non-coding_Transcript|PRKCZ_uc001ait.3_Missense_Mutation_p.L231F NM_002744 NP_001028754 Q05513 KPCZ_HUMAN Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA. 383 Protein kinase. anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) GGACAACGTCCTCCTGGATGC 0.627000 43 8 0 0 1 0 0 EPCAM 4072 broad.mit.edu 37 2 47600655 47600655 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:47600655C>T uc002rvx.3 + 1 488 c.130C>T c.(130-132)Cgt>Tgt p.R44C NM_002354 NP_002345 P16422 EPCAM_HUMAN Homo sapiens epithelial cell adhesion molecule (EPCAM), mRNA. 44 positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding p.0?(2)|p.?(1) endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1) 15 GAATAATAATCGTCAATGCCA 0.318000 14 7 0 0 1 0 0 ZNF429 353088 broad.mit.edu 37 19 21719572 21719572 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:21719572C>T uc002nqd.1 + 3 854 c.717C>T c.(715-717)aaC>aaT p.N239N ZNF429_uc010ecu.2_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN Homo sapiens zinc finger protein 429 (ZNF429), mRNA. 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 AAGCATTTAACCACTACTCAA 0.393000 35 5 0 0 1 0 0 OR4D6 219983 broad.mit.edu 37 11 59224871 59224871 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:59224871G>A uc010rku.2 + 0 438 c.438G>A c.(436-438)gtG>gtA p.V146V NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA. 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V146V(2) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 CCTTGGTGGTGGCTTCTTGGG 0.507000 94 22 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34073120 34073120 + Missense_Mutation SNP C T T rs139624793 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:34073120C>T uc002hjv.2 - 5 1424 c.1396G>A c.(1396-1398)Gag>Aag p.E466K NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA. 466 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCCAGGCACTCGGCTGGGCCA 0.622000 109 9 0 0 1 0 0 C1orf87 127795 broad.mit.edu 37 1 60456402 60456402 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:60456402G>A uc001czs.2 - 11 1692 c.1584C>T c.(1582-1584)ttC>ttT p.F528F C1orf87_uc001czr.1_Silent_p.F120F NM_152377 NP_689590 Q8N0U7 CA087_HUMAN Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA. 528 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 CTCCCGAACGGAATCTGCGCA 0.483000 52 20 0 0 1 0 0 SEMA3F 6405 broad.mit.edu 37 3 50211707 50211707 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:50211707G>A uc003cyj.3 + 4 578 c.380G>A c.(379-381)cGa>cAa p.R127Q SEMA3F_uc003cyk.3_Missense_Mutation_p.R127Q NM_004186 NP_004177 Q13275 SEM3F_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA. 127 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) CCCTGGAACCGAACACACCTG 0.662000 72 5 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6958515 6958515 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:6958515G>A uc002knm.3 - 54 8019 c.7925C>T c.(7924-7926)tCg>tTg p.S2642L LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Missense_Mutation_p.S95L|LAMA1_uc010wzj.2_Missense_Mutation_p.S2118L NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 2642 Laminin G-like 3. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCATGGAACGATCTTCTCAT 0.463000 44 6 0 0 1 0 0 FGD4 121512 broad.mit.edu 37 12 32755144 32755144 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:32755144C>A uc010ske.2 + 6 1306 c.1222C>A c.(1222-1224)Ctt>Att p.L408I FGD4_uc001rlc.3_Missense_Mutation_p.L381I|FGD4_uc001rky.3_Missense_Mutation_p.L48I|FGD4_uc001rkz.3_Missense_Mutation_p.L296I|FGD4_uc001rla.3_5'UTR|FGD4_uc001rlb.1_Non-coding_Transcript NM_139241 NP_640334 Q96M96 FGD4_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA. 296 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding p.Y407N(1) breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) GGCACCATTCCTTAAGATGTA 0.328000 107 9 7.03913e-09 7.13258e-09 1 1 0 MTMR11 10903 broad.mit.edu 37 1 149901600 149901600 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:149901600G>A uc001etl.4 - 15 2107 c.1856C>T c.(1855-1857)cCt>cTt p.P619L SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Missense_Mutation_p.P547L NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA. 619 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CAGCCCTGGAGGTAAAGGGCA 0.592000 92 7 0 0 1 0 0 MTMR12 54545 broad.mit.edu 37 5 32248971 32248971 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:32248971G>A uc003jhq.3 - 8 973 c.803C>T c.(802-804)tCc>tTc p.S268F MTMR12_uc010iuk.3_Missense_Mutation_p.S268F|MTMR12_uc010iul.3_Missense_Mutation_p.S268F NM_001040446 NP_001035536 Q9C0I1 MTMRC_HUMAN Homo sapiens myotubularin related protein 12 (MTMR12), mRNA. 268 Myotubularin phosphatase. cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 ATTGTGGCAGGACCAACACCA 0.408000 113 14 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39229874 39229874 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:39229874C>T uc003cjk.2 - 1 1292 c.1063G>A c.(1063-1065)Gac>Aac p.D355N XIRP1_uc003cji.3_Missense_Mutation_p.D355N|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.D355N NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 355 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TTCAGAGTGTCCAGCGCTCGG 0.567000 124 7 0 0 1 0 0 OR52B6 340980 broad.mit.edu 37 11 5602848 5602848 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:5602848C>T uc010qzi.2 + 0 742 c.742C>T c.(742-744)Ctt>Ttt p.L248F HBG1_uc001mak.1_Intron NM_001005162 NP_001005162 Q8NGF0 O52B6_HUMAN Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA. 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTCCGCCTCCTTTCTCAAGA 0.502000 136 8 0 0 1 0 0 PRKACG 5568 broad.mit.edu 37 9 71628021 71628021 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:71628021C>T uc004agy.3 - 0 1019 c.988G>A c.(988-990)Gac>Aac p.D330N NM_002732 NP_002723 P22612 KAPCG_HUMAN Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA. 330 AGC-kinase C-terminal. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 TCCTCGTAGTCGTCAAAGTTA 0.527000 67 5 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230272017 230272017 + Missense_Mutation SNP A C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:230272017A>C uc002vpv.3 - 9 1801 c.1654T>G c.(1654-1656)Tgt>Ggt p.C552G NM_139072 NP_620711 Q8NFT8 DNER_HUMAN Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA. 552 EGF-like 9.|Follistatin-like. Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) CCGTTCAGACAGCTGACGTTA 0.527000 24 6 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53671347 53671347 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:53671347C>T uc001sck.2 + 9 2270 c.2179C>T c.(2179-2181)Cgt>Tgt p.R727C ESPL1_uc001scj.2_Missense_Mutation_p.R402C|ESPL1_uc010soe.1_5'Flank NM_012291 NP_036423 Q14674 ESPL1_HUMAN Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA. 727 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 CCAGGAAGATCGTTTCCTATA 0.502000 72 7 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3779715 3779715 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:3779715G>A uc002cvv.3 - 30 5537 c.5333C>T c.(5332-5334)tCg>tTg p.S1778L CREBBP_uc002cvw.3_Missense_Mutation_p.S1740L NM_004380 NP_004371 Q92793 CBP_HUMAN Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA. 1778 Interaction with TRERF1. N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia cytoplasm|nuclear body MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GTGCACCAGCGACTGGATGCA 0.662000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 36 7 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123366088 123366088 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:123366088G>A uc003ego.3 - 26 4884 c.4602C>T c.(4600-4602)atC>atT p.I1534I MYLK_uc010hrr.3_Intron|MYLK_uc011bjv.2_Silent_p.I334I|MYLK_uc011bjw.2_Silent_p.I1534I|MYLK_uc003egp.3_Silent_p.I1465I|MYLK_uc003egq.3_Silent_p.I1534I|MYLK_uc003egr.3_Silent_p.I1465I|MYLK_uc003egs.3_Silent_p.I1358I NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 1534 Protein kinase. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GGACCATGACGATGTTGGCCT 0.567000 43 6 0 0 1 0 0 PIGR 5284 broad.mit.edu 37 1 207105095 207105095 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:207105095C>T uc001hez.3 - 8 2245 c.2061G>A c.(2059-2061)gaG>gaA p.E687E PIGR_uc009xbz.3_Silent_p.E687E NM_002644 NP_002635 P01833 PIGR_HUMAN Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA. 687 extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCCTGGAGTTCTCGAAGTCTG 0.517000 118 9 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113857312 113857312 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:113857312G>A uc010rxb.2 + 6 1029 c.796G>A c.(796-798)Gac>Aac p.D266N HTR3A_uc010rxa.2_Missense_Mutation_p.D266N|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.D245N NM_213621 NP_998786 P46098 5HT3A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA. 260 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) CATGGTCATGGACATCGTGGG 0.577000 64 8 0 0 1 0 0 CD101 9398 broad.mit.edu 37 1 117552761 117552761 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:117552761C>T uc010oxb.1 + 1 391 c.333C>T c.(331-333)ctC>ctT p.L111L CD101_uc009whd.3_Silent_p.L111L|CD101_uc010oxc.1_Silent_p.L111L|CD101_uc010oxd.1_Silent_p.L111L NM_004258 NP_004249 Q93033 IGSF2_HUMAN Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA. 111 Ig-like C2-type 1. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TCTCAAAACTCCAGATGAAGG 0.478000 27 8 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31588393 31588393 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:31588393C>T uc002rnv.1 - 22 2553 c.2474G>A c.(2473-2475)cGa>cAa p.R825Q NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 825 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity p.R825Q(2)|p.R825*(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CAGCATGCATCGCACAGGGCG 0.577000 81 6 0 0 1 0 0 SLC26A10 65012 broad.mit.edu 37 12 58016868 58016868 + Missense_Mutation SNP C T T rs138048824 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:58016868C>T uc001spe.3 + 6 1312 c.1001C>T c.(1000-1002)tCg>tTg p.S334L SLC26A10_uc001spf.3_Non-coding_Transcript|SLC26A10_uc009zpz.2_5'Flank NM_133489 NP_597996 Q8NG04 S2610_HUMAN Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA. 334 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) TTTCCCAACTCGGCTACGCTG 0.547000 186 16 0 0 1 0 0 PABPC4 8761 broad.mit.edu 37 1 40029401 40029401 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:40029401G>A uc001cdl.2 - 11 2451 c.1553C>T c.(1552-1554)gCt>gTt p.A518V PABPC4_uc010oiv.1_Missense_Mutation_p.A502V|PABPC4_uc001cdm.2_Missense_Mutation_p.A489V NM_001135653 NP_001129125 Q13310 PABP4_HUMAN Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA. 502 RNA catabolic process|RNA processing|blood coagulation|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GTTCTGCACAGCTGTGGGAAC 0.562000 85 8 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56355349 56355349 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:56355349G>A uc002ivu.1 - 6 1220 c.1043C>T c.(1042-1044)cCc>cTc p.P348L NM_000250 NP_000241 P05164 PERM_HUMAN Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA. 348 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) CCTGGCCAGGGGCTCCTCGCT 0.647000 43 4 0 0 1 0 0 RBBP5 5929 broad.mit.edu 37 1 205065952 205065952 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:205065952G>A uc010prd.2 - 10 1640 c.1359C>T c.(1357-1359)ccC>ccT p.P453P RBBP5_uc010pre.2_Silent_p.P291P|RBBP5_uc001hbu.2_Silent_p.P418P|RBBP5_uc001hbv.2_Silent_p.P418P NM_005057 NP_005048 Q15291 RBBP5_HUMAN Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA. 418 histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 27 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) CATCCGGTGGGGGGCCGTAAG 0.502000 123 10 0 0 1 0 0 SUN3 256979 broad.mit.edu 37 7 48068524 48068524 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:48068524T>A uc003tof.3 - 1 109 c.12A>T c.(10-12)aaA>aaT p.K4N SUN3_uc003tog.3_Missense_Mutation_p.K4N|SUN3_uc011kcf.2_5'UTR NM_152782 NP_689995 Q8TAQ9 SUN3_HUMAN Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA. 4 integral to membrane p.K4E(1) central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTGCCTTTGTTTTTCCACTCA 0.433000 39 5 0 0 1 0 0 GJB4 127534 broad.mit.edu 37 1 35227422 35227422 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:35227422C>T uc001bxw.4 + 0 567 c.567C>T c.(565-567)ttC>ttT p.F189F GJB4_uc001bxv.1_Silent_p.F189F NM_153212 NP_694944 Q9NTQ9 CXB4_HUMAN Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA. 189 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) TCACCTACTTCATGGTGACCA 0.602000 64 17 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32052303 32052304 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:32052303_32052304GG>AA uc003nzl.2 - 7 3533_3534 c.3331_3332CC>TT c.(3331-3333)ccc>TTc p.P1111F NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1198 Fibronectin type-III 3. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CGAGCGCTGGGGTCCTTCCACG 0.614000 598 39 0 0 1 0 0 FBXO18 84893 broad.mit.edu 37 10 5951148 5951148 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:5951148C>T uc001iit.3 + 5 1168 c.1064C>T c.(1063-1065)cCg>cTg p.P355L FBXO18_uc001iir.3_Missense_Mutation_p.P230L|FBXO18_uc001iis.3_Missense_Mutation_p.P304L|FBXO18_uc009xig.3_Missense_Mutation_p.P230L NM_032807 NP_835363 Q8NFZ0 FBX18_HUMAN Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA. 304 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 AAGTGCTCTCCGAGTGTGGAT 0.572000 76 5 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101603327 101603327 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:101603327C>T uc001thz.4 - 0 690 c.300G>A c.(298-300)gcG>gcA p.A100A NM_145913 NP_666018 Q8N695 SC5A8_HUMAN Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA. 100 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity p.A100A(2) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GGAAGACCTCCGCGCTGATGA 0.597000 13 3 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 981176 981176 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:981176C>T uc001ack.2 + 14 2650 c.2600C>T c.(2599-2601)tCg>tTg p.S867L NM_198576 NP_940978 O00468 AGRIN_HUMAN Homo sapiens agrin (AGRN), mRNA. 867 Laminin EGF-like 2. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GGGCTGTGCTCGTGTAAGCCC 0.662000 103 12 0 0 1 0 0 CEACAM3 1084 broad.mit.edu 37 19 42301836 42301836 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:42301836C>T uc002orn.1 + 1 456 c.380C>T c.(379-381)tCa>tTa p.S127L CEACAM3_uc010eia.1_Missense_Mutation_p.S127L|CEACAM3_uc002oro.1_Non-coding_Transcript NM_001815 NP_001806 P40198 CEAM3_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA. 127 Ig-like V-type. integral to membrane endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 GTCATAAAGTCAGATCTTGTG 0.453000 176 26 0 0 1 0 0 KIF17 57576 broad.mit.edu 37 1 21031351 21031351 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:21031351G>A uc001bdr.4 - 4 830 c.712C>T c.(712-714)Ctg>Ttg p.L238L KIF17_uc001bds.4_Silent_p.L238L NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA. 238 Kinesin-motor. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) AGGTCCACCAGGTTCAGCTTG 0.677000 65 8 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233136146 233136146 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:233136146C>T uc001hvl.2 - 29 5468 c.5233G>A c.(5233-5235)Gag>Aag p.E1745K PCNXL2_uc001hvk.1_Missense_Mutation_p.E397K|PCNXL2_uc001hvm.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 1745 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GTGAGCAGCTCTTCCTTGTTG 0.602000 79 15 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38996016 38996016 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:38996016C>T uc002oit.3 + 52 8508 c.8378C>T c.(8377-8379)cCc>cTc p.P2793L RYR1_uc002oiu.3_Missense_Mutation_p.P2793L|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 2793 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ATGCTGAGGCCCTACAAGACC 0.552000 19 3 0 0 1 0 0 GTF2H4 2968 broad.mit.edu 37 6 30879800 30879800 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:30879800C>T uc003nsa.1 + 9 1042 c.835C>T c.(835-837)Cgg>Tgg p.R279W GTF2H4_uc010jsf.2_3'UTR|GTF2H4_uc011dmv.1_3'UTR|VARS2_uc003nsc.2_5'Flank|VARS2_uc003nsd.3_5'Flank|VARS2_uc011dmx.2_5'Flank|VARS2_uc011dmy.2_5'Flank|VARS2_uc011dmz.2_5'Flank|VARS2_uc011dna.2_5'Flank|VARS2_uc011dnb.2_5'Flank|VARS2_uc011dnc.2_5'Flank NM_001517 NP_001508 Q92759 TF2H4_HUMAN Homo sapiens general transcription factor IIH, polypeptide 4, 52kDa (GTF2H4), mRNA. 279 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GAGGAAATCTCGGCGTTACTA 0.502000 Nucleotide excision repair (NER) 58 5 0 0 1 0 0 PODN 127435 broad.mit.edu 37 1 53544334 53544334 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:53544334C>T uc001cuv.3 + 7 1464 c.1296C>T c.(1294-1296)acC>acT p.T432T PODN_uc010onr.2_Silent_p.T413T|PODN_uc010ons.2_Silent_p.T290T|PODN_uc001cuw.3_Silent_p.T413T NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN Homo sapiens podocan (PODN), transcript variant 1, mRNA. 384 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GCGTGCGCACCCTCATGATCC 0.622000 117 7 0 0 1 0 0 ZBP1 81030 broad.mit.edu 37 20 56191482 56191482 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:56191482C>T uc002xyo.3 - 1 358 c.77G>A c.(76-78)gGc>gAc p.G26D ZBP1_uc010gjm.3_Missense_Mutation_p.G26D|ZBP1_uc002xyp.3_Intron|ZBP1_uc010zzn.2_Missense_Mutation_p.G26D NM_030776 NP_110403 Q9H171 ZBP1_HUMAN Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA. 26 cytoplasm|nucleus RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) CACCGGGGAGCCAGCCTCTGT 0.577000 91 16 0 0 1 0 0 AP2B1 163 broad.mit.edu 37 17 33932734 33932734 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:33932734C>T uc002hjr.3 + 3 343 c.154C>T c.(154-156)Cca>Tca p.P52S AP2B1_uc002hjq.3_Missense_Mutation_p.P52S|AP2B1_uc010wci.2_Missense_Mutation_p.P52S|AP2B1_uc002hjs.3_5'UTR|AP2B1_uc002hjt.3_Missense_Mutation_p.P52S|AP2B1_uc010ctv.3_Missense_Mutation_p.P52S NM_001282 NP_001273 P63010 AP2B1_HUMAN Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 2, mRNA. 52 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) TTCTCTCTTTCCAGACGTAGT 0.438000 60 6 0 0 1 0 0 ARRDC5 645432 broad.mit.edu 37 19 4896785 4896785 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:4896785G>A uc002mbm.3 - 1 399 c.399C>T c.(397-399)ttC>ttT p.F133F NM_001080523 NP_001073992 A6NEK1 ARRD5_HUMAN Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA. 133 signal transduction endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) AAGCTTGTACGAAATAGAAGA 0.458000 85 7 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140222521 140222521 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140222521G>A uc003lhs.2 + 0 1615 c.1615G>A c.(1615-1617)Gac>Aac p.D539N PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.D539N NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 553 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCGCGCGCGACGCGGGCGT 0.672000 137 10 0 0 1 0 0 ZNF827 152485 broad.mit.edu 37 4 146686877 146686877 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:146686877C>T uc003ikn.3 - 11 2922 c.2874G>A c.(2872-2874)aaG>aaA p.K958K ZNF827_uc003ikm.3_Silent_p.K958K|ZNF827_uc010iox.3_Silent_p.K608K|ZNF827_uc003ikl.3_Silent_p.K43K NM_178835 NP_849157 Q17R98 ZN827_HUMAN Homo sapiens zinc finger protein 827 (ZNF827), mRNA. 958 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) CGCTGGGGGTCTTCCTGTCTT 0.453000 64 4 0 0 1 0 0 IL27RA 9466 broad.mit.edu 37 19 14157118 14157118 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:14157118G>A uc002mxx.3 + 6 1344 c.921G>A c.(919-921)gaG>gaA p.E307E NM_004843 NP_004834 Q6UWB1 I27RA_HUMAN Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA. 307 cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 26 CAAGCTGGGAGCCTCTCACCA 0.602000 205 14 0 0 1 0 0 CALCOCO1 57658 broad.mit.edu 37 12 54115306 54115306 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:54115306C>T uc001sef.3 - 5 847 c.703G>A c.(703-705)Gat>Aat p.D235N CALCOCO1_uc010som.2_Missense_Mutation_p.D202N|CALCOCO1_uc010son.2_Missense_Mutation_p.D112N|CALCOCO1_uc009znd.3_Missense_Mutation_p.D235N|CALCOCO1_uc001seg.3_Missense_Mutation_p.D112N|CALCOCO1_uc001seh.2_Missense_Mutation_p.D235N|CALCOCO1_uc010soo.1_Missense_Mutation_p.D228N NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA. 235 Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 28 TGGATGTCATCCTCTAGCTCC 0.567000 260 48 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219894839 219894839 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:219894839G>A uc002vjl.1 - 9 1337 c.1253C>T c.(1252-1254)cCg>cTg p.P418L CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Missense_Mutation_p.P407L|CCDC108_uc010zkq.1_Missense_Mutation_p.P353L NM_194302 NP_919278 Q6ZU64 CC108_HUMAN Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA. 418 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTTCTCTCCCGGAAGCACGAT 0.562000 OREG0015211 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 63 18 0 0 1 0 0 SPATA25 128497 broad.mit.edu 37 20 44515131 44515131 + Splice_Site SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:44515131A>G uc002xqf.3 - 2 719 c.710_splice c.e2+1 NM_080608 NP_542175 Q9BR10 CT165_HUMAN Homo sapiens spermatogenesis associated 25 (SPATA25), mRNA. integral to membrane AAACCACCCTACATATCTGGT 0.537000 220 12 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154225334 154225334 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:154225334T>G uc004fmt.3 - 2 473 c.302A>C c.(301-303)gAt>gCt p.D101A F8_uc011mzx.1_Missense_Mutation_p.D66A NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 101 F5/8 type A 1.|Plastocyanin-like 1. D -> G (in HEMA; severe).|D -> H (in HEMA; severe sporadic).|D -> V (in HEMA). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GACCACTGTATCATAAACCTC 0.453000 55 9 0 0 1 0 0 RASGRP4 115727 broad.mit.edu 37 19 38903606 38903606 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:38903606G>A uc021uub.1 - 11 1714 c.1500C>T c.(1498-1500)ttC>ttT p.F500F RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Silent_p.F431F|RASGRP4_uc021uua.1_Silent_p.F466F|RASGRP4_uc021uuc.1_Silent_p.F408F|RASGRP4_uc021uud.1_Silent_p.F403F|RASGRP4_uc021uue.1_Silent_p.F311F|RASGRP4_uc021uuf.1_Silent_p.F486F NM_170604 NP_733749 Q8TDF6 GRP4_HUMAN Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA. 500 EF-hand. activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1) 23 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CATGGCAGGCGAAGGGAAAAT 0.567000 74 6 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152279786 152279786 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152279786C>T uc001ezu.1 - 2 7612 c.7576G>A c.(7576-7578)Ggc>Agc p.G2526S NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 2526 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCCTGGAGCCGTCTCCTGAT 0.602000 Ichthyosis 256 42 0 0 1 0 0 ULBP3 79465 broad.mit.edu 37 6 150387045 150387045 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:150387045G>A uc003qns.3 - 1 423 c.342C>T c.(340-342)ttC>ttT p.F114F ULBP3_uc011eej.1_5'Flank|ULBP3_uc011eek.1_Silent_p.F65F NM_024518 NP_078794 Q9BZM4 N2DL3_HUMAN Homo sapiens UL16 binding protein 3 (ULBP3), mRNA. 114 MHC class I alpha-1 like. antigen processing and presentation|immune response|natural killer cell activation MHC class I protein complex|anchored to membrane MHC class I receptor activity central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 9 Ovarian(120;0.12) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.45e-12) CACTGGGTGTGAAATCCTCCA 0.542000 81 5 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35833970 35833970 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:35833970G>A uc011axy.2 + 17 2344 c.2132G>A c.(2131-2133)gGa>gAa p.G711E ARPP21_uc003cga.3_Missense_Mutation_p.G691E|ARPP21_uc003cgb.3_Missense_Mutation_p.G710E|ARPP21_uc003cgf.3_Missense_Mutation_p.G546E|ARPP21_uc003cgg.3_Missense_Mutation_p.G233E NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA. 710 Gln-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 AACCAACAAGGAACTCCGGTG 0.463000 19 6 0 0 1 0 0 GSTCD 79807 broad.mit.edu 37 4 106640287 106640287 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:106640287C>T uc003hxz.4 + 2 569 c.497C>T c.(496-498)tCt>tTt p.S166F GSTCD_uc003hxx.2_Missense_Mutation_p.S166F|GSTCD_uc003hxy.4_Missense_Mutation_p.S79F|GSTCD_uc011cfb.2_Intron|GSTCD_uc010ils.2_Missense_Mutation_p.S166F NM_001031720 NP_001026890 Q8NEC7 GSTCD_HUMAN Homo sapiens glutathione S-transferase, C-terminal domain containing (GSTCD), transcript variant 1, mRNA. 166 GST C-terminal. cytoplasm rRNA methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 14 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) AGAGAATCTTCTGACCAGCCC 0.408000 32 7 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1098761 1098761 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:1098761C>T uc001lsx.1 + 38 7146 c.7119C>T c.(7117-7119)gcC>gcT p.A2373A NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 4739 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CCTACGCAGCCCTCTGTGCCC 0.662000 6 3 0 0 1 0 0 ALKBH1 8846 broad.mit.edu 37 14 78146285 78146285 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:78146285G>A uc001xuc.1 - 3 493 c.484C>T c.(484-486)Cga>Tga p.R162* NM_006020 NP_006011 Q13686 ALKB1_HUMAN Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA. 162 DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.R162R(2) endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) AGTAAACTTCGGGGTCTCCGT 0.403000 36 6 0 0 1 0 0 CLN3 1201 broad.mit.edu 37 16 28497722 28497722 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:28497722G>A uc002dpo.3 - 7 946 c.623C>T c.(622-624)tCc>tTc p.S208F NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Missense_Mutation_p.S130F|CLN3_uc002dpm.3_Missense_Mutation_p.S154F|CLN3_uc010vcu.2_Missense_Mutation_p.S108F|CLN3_uc010vcv.2_Missense_Mutation_p.S184F|CLN3_uc002dpp.3_Missense_Mutation_p.S208F|CLN3_uc021tfs.1_Intron|CLN3_uc002dpt.1_Missense_Mutation_p.S108F|CLN3_uc002dpq.1_Intron|CLN3_uc010bye.1_Missense_Mutation_p.S208F|CLN3_uc002dpr.1_Intron|CLN3_uc010byf.1_Intron|CLN3_uc002dps.1_Intron|CLN3_uc002dpu.1_Intron|CLN3_uc002dpw.1_Intron|CLN3_uc010vcw.1_Missense_Mutation_p.S154F|CLN3_uc002dqa.2_Missense_Mutation_p.S259F|CLN3_uc010vcx.1_Missense_Mutation_p.S108F|CLN3_uc002dpx.1_Intron|CLN3_uc002dpy.1_Intron|CLN3_uc002dpz.1_Non-coding_Transcript NM_000086 NP_001035897 Q13286 CLN3_HUMAN Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA. 208 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport Golgi membrane|Golgi stack|autophagic vacuole|caveola|cytosol|early endosome|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1) 15 CTGCTGAGGGGAGAGGCCGGC 0.682000 48 8 0 0 1 0 0 SLC5A11 115584 broad.mit.edu 37 16 24881283 24881283 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:24881283C>T uc002dmu.3 + 3 500 c.269C>T c.(268-270)tCa>tTa p.S90L SLC5A11_uc002dms.3_Missense_Mutation_p.S26L|SLC5A11_uc010vcd.2_Missense_Mutation_p.S90L|SLC5A11_uc002dmt.3_Missense_Mutation_p.S26L|SLC5A11_uc010vce.2_Intron|SLC5A11_uc010bxt.3_Missense_Mutation_p.S26L NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA. 90 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) CTGGCAGGGTCAGGTGCTGCT 0.468000 62 6 0 0 1 0 0 TRIM46 80128 broad.mit.edu 37 1 155156339 155156339 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:155156339C>T uc001fhs.1 + 9 2036 c.1953C>T c.(1951-1953)ttC>ttT p.F651F TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Silent_p.F525F|TRIM46_uc001fhu.1_Silent_p.F628F|TRIM46_uc001fhw.1_Non-coding_Transcript|TRIM46_uc021pao.1_Non-coding_Transcript NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN Homo sapiens tripartite motif containing 46 (TRIM46), mRNA. 651 B30.2/SPRY. intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CGCCACCCTTCGCTTTCCTAA 0.647000 89 6 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8610586 8610586 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:8610586G>A uc002mkg.3 - 12 1442 c.1304C>T c.(1303-1305)cCa>cTa p.P435L NM_012335 NP_036467 O00160 MYO1F_HUMAN Homo sapiens myosin IF (MYO1F), mRNA. 435 Myosin head-like. unconventional myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 GTACTGGATTGGAGTCCAGCG 0.577000 238 20 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9578896 9578896 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9578896C>T uc002mlp.1 - 9 937 c.727G>A c.(727-729)Gaa>Aaa p.E243K ZNF560_uc010dwr.1_Missense_Mutation_p.E137K NM_152476 NP_689689 Q96MR9 ZN560_HUMAN Homo sapiens zinc finger protein 560 (ZNF560), mRNA. 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TGAATACATTCAGACGTGTTG 0.388000 23 5 0 0 1 0 0 TMEM179 388021 broad.mit.edu 37 14 105063332 105063332 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:105063332G>A uc001yox.1 - 1 457 c.438C>T c.(436-438)ccC>ccT p.P146P NM_207379 NP_997262 Q6ZVK1 T179A_HUMAN Homo sapiens transmembrane protein 179 (TMEM179), mRNA. 146 integral to membrane endometrium(1)|lung(2)|skin(1) 4 all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.129) CGCACCTGTGGGGTACGGTGC 0.657000 34 5 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164719 139164719 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:139164719C>T uc003yuy.3 - 12 2170 c.1999G>A c.(1999-2001)Gag>Aag p.E667K FAM135B_uc003yux.3_Missense_Mutation_p.E568K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E229K|FAM135B_uc003yvb.3_Missense_Mutation_p.E229K NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 667 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GAGAGTTCCTCCTGCTCTTCT 0.517000 HNSCC(54;0.14) 60 5 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8418357 8418357 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:8418357G>A uc001ape.3 - 20 5048 c.4238C>T c.(4237-4239)cCc>cTc p.P1413L RERE_uc001apf.3_Missense_Mutation_p.P1413L|RERE_uc001apd.3_Missense_Mutation_p.P859L NM_012102 NP_036234 Q9P2R6 RERE_HUMAN Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA. 1413 NLS-bearing substrate import into nucleus|multicellular organismal development mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P1413P(1) central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) TCGGGCCAGGGGATCGCTGGT 0.652000 35 10 0 0 1 0 0 TUSC5 286753 broad.mit.edu 37 17 1183455 1183455 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:1183455G>A uc002fsi.1 + 0 499 c.160G>A c.(160-162)Gag>Aag p.E54K NM_172367 NP_758955 Q8IXB3 TUSC5_HUMAN Homo sapiens tumor suppressor candidate 5 (TUSC5), mRNA. 54 response to biotic stimulus integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TCTGGATCTGGAGCAGAACAG 0.637000 68 6 0 0 1 0 0 HPSE2 60495 broad.mit.edu 37 10 100904148 100904148 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:100904148G>A uc001kpn.2 - 2 530 c.457C>T c.(457-459)Cga>Tga p.R153* HPSE2_uc009xwc.2_Nonsense_Mutation_p.R153*|HPSE2_uc001kpo.2_Nonsense_Mutation_p.R153*|HPSE2_uc009xwd.2_Intron NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA. 153 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity p.R153Q(1) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) ACATCACTTCGAACAATGTCT 0.403000 36 5 0 0 1 0 0 SLC7A1 6541 broad.mit.edu 37 13 30091297 30091297 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:30091297G>A uc001uso.3 - 10 2048 c.1661C>T c.(1660-1662)aCc>aTc p.T554I NM_003045 NP_003036 P30825 CTR1_HUMAN Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 (SLC7A1), mRNA. 554 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2) 24 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) TGAGAGCTTGGTCTTGCTCTC 0.642000 15 4 0 0 1 0 0 OTOP2 92736 broad.mit.edu 37 17 72921689 72921689 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:72921689G>A uc010wrp.2 + 2 444 c.352G>A c.(352-354)Gat>Aat p.D118N USH1G_uc002jme.1_5'Flank|USH1G_uc010wro.1_5'Flank|OTOP2_uc002jmf.1_Missense_Mutation_p.D118N NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN Homo sapiens otopetrin 2 (OTOP2), mRNA. 118 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) CCTCATCATGGATGTCTTCAA 0.557000 125 6 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179562682 179562682 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:179562682G>A uc010pnp.2 + 2 838 c.320G>A c.(319-321)gGa>gAa p.G107E TDRD5_uc021pfm.1_Missense_Mutation_p.G107E|TDRD5_uc001gnf.2_Missense_Mutation_p.G107E|TDRD5_uc021pfn.1_Missense_Mutation_p.G107E NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 107 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding p.K106N(1) NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 ATGCATAAGGGAAGACCTAGT 0.458000 36 14 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79579741 79579741 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:79579741G>A uc001jzk.3 - 15 3508 c.3438C>T c.(3436-3438)tcC>tcT p.S1146S DLG5_uc001jzi.3_5'UTR|DLG5_uc001jzj.3_Silent_p.S561S|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Silent_p.S750S NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA. 1146 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GGAGCTCCGGGGAGAGTTCTC 0.622000 89 4 0 0 1 0 0 SEL1L2 80343 broad.mit.edu 37 20 13858217 13858217 + Missense_Mutation SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:13858217G>T uc010gcf.3 - 10 1057 c.975C>A c.(973-975)ttC>ttA p.F325L SEL1L2_uc002woq.4_Missense_Mutation_p.F186L|SEL1L2_uc010zrl.2_Missense_Mutation_p.F325L|SEL1L2_uc002wor.3_Non-coding_Transcript NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA. 325 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 CTGCCTTTAAGAAGTAGTGTA 0.338000 30 5 3.59834e-05 3.63868e-05 1 1 0 CPAMD8 27151 broad.mit.edu 37 19 17086957 17086957 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:17086957G>A uc002nfb.3 - 15 1936 c.1904C>T c.(1903-1905)tCa>tTa p.S635L NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 588 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 ATACGTCACTGAAACCTTGGC 0.562000 36 9 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98810890 98810890 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:98810890G>A uc002syo.3 + 11 1936 c.1672G>A c.(1672-1674)Gaa>Aaa p.E558K VWA3B_uc010yvh.2_Missense_Mutation_p.E408K|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.E77K|VWA3B_uc002sym.3_Missense_Mutation_p.E558K|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.E215K|VWA3B_uc002syp.1_5'UTR NM_144992 NP_659429 Q502W6 VWA3B_HUMAN Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA. 558 VWFA. p.R557L(2) NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGCTTGGCGGGAACAACTTGC 0.383000 202 7 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79366681 79366681 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:79366681C>T uc003hlb.2 + 41 6111 c.5671C>T c.(5671-5673)Cgt>Tgt p.R1891C FRAS1_uc003hkw.3_Missense_Mutation_p.R1891C|FRAS1_uc010ijj.2_Missense_Mutation_p.R311C NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 1890 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGCAGGTGATCGTTTTGGCCC 0.393000 34 5 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29644278 29644278 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:29644278C>T uc001bru.3 + 25 3691 c.3562C>T c.(3562-3564)Ccg>Tcg p.P1188S PTPRU_uc009vtq.3_Missense_Mutation_p.P1184S|PTPRU_uc009vtr.3_Missense_Mutation_p.P1175S|PTPRU_uc001brw.3_Missense_Mutation_p.P1178S|PTPRU_uc001brx.3_5'Flank NM_005704 NP_005695 Q92729 PTPRU_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA. 1188 Tyrosine-protein phosphatase 2. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CTCGGTCACCCCGCCGCTGGA 0.667000 55 18 0 0 1 0 0 CDC45 8318 broad.mit.edu 37 22 19494939 19494939 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:19494939C>T uc011aha.2 + 11 1029 c.951C>T c.(949-951)tcC>tcT p.S317S CDC45_uc021wlg.1_Non-coding_Transcript|CDC45_uc011agz.1_Silent_p.S280S|CDC45_uc002zpr.3_Silent_p.S285S|CDC45_uc002zpt.3_Silent_p.S239S NM_001178010 NP_001171481 O75419 CDC45_HUMAN Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA. 285 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 AGCACTGGTCCCTCCATGACA 0.607000 103 21 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60699339 60699339 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:60699339C>T uc001nqi.3 + 5 1391 c.1198C>T c.(1198-1200)Ctt>Ttt p.L400F TMEM132A_uc001nqj.3_Missense_Mutation_p.L399F|TMEM132A_uc001nqk.3_Missense_Mutation_p.L412F|TMEM132A_uc001nql.1_Missense_Mutation_p.L412F NM_017870 NP_060340 Q24JP5 T132A_HUMAN Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA. 399 Golgi membrane|endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CATCAGAGCCCTTATCCCACT 0.627000 78 11 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8176655 8176655 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:8176655C>T uc002mjf.3 - 31 3979 c.3962_splice c.e31-1 p.D1321_splice NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 1321 EGF-like 20; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TCATCCAGGTCTGCAGGAGAT 0.637000 58 10 0 0 1 0 0 ODZ1 10178 broad.mit.edu 37 X 123657239 123657239 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:123657239C>T uc010nqy.3 - 16 3072 c.3008G>A c.(3007-3009)aGg>aAg p.R1003K ODZ1_uc011muj.2_Missense_Mutation_p.R1002K|ODZ1_uc004euj.3_Missense_Mutation_p.R1003K NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 1003 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 AATAGTTCCCCTCTCTGGACA 0.438000 17 4 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46916759 46916759 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:46916759C>T uc001ndn.4 - 10 1510 c.1267G>A c.(1267-1269)Ggc>Agc p.G423S NM_002334 NP_002325 O75096 LRP4_HUMAN Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA. 423 EGF-like 2; calcium-binding (Potential). Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) AGTTCATAGCCTGTTTCACAC 0.612000 66 4 0 0 1 0 0 ZBTB39 9880 broad.mit.edu 37 12 57398520 57398520 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:57398520T>A uc001sml.2 - 1 335 c.182A>T c.(181-183)aAt>aTt p.N61I ZBTB39_uc021qzg.1_Missense_Mutation_p.N61I NM_014830 NP_055645 O15060 ZBT39_HUMAN Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA. 61 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 AAGCCCAGTATTCAGGAAGAG 0.552000 128 18 0 0 1 0 0 TMCO7 79613 broad.mit.edu 37 16 68961554 68961554 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:68961554C>T uc002ewi.4 + 12 2223 c.2211C>T c.(2209-2211)atC>atT p.I737I NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA. 737 integral to membrane binding endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2) 20 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) ATCCGGTCATCCAAGAACTCG 0.468000 89 8 0 0 1 0 0 UBN1 29855 broad.mit.edu 37 16 4925047 4925047 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:4925047C>T uc002cyb.3 + 14 2975 c.2636C>T c.(2635-2637)tCc>tTc p.S879F UBN1_uc010uxw.2_Missense_Mutation_p.S879F|UBN1_uc002cyc.3_Missense_Mutation_p.S879F NM_001079514 NP_058632 Q9NPG3 UBN1_HUMAN Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA. 879 Ser-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 CCAGCCTCGTCCTCTTCTGCC 0.572000 79 8 0 0 1 0 0 CEP70 80321 broad.mit.edu 37 3 138213864 138213864 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:138213864G>A uc003esl.3 - 17 1985 c.1787C>T c.(1786-1788)tCa>tTa p.S596L CEP70_uc011bmk.2_Missense_Mutation_p.S576L|CEP70_uc011bml.2_Missense_Mutation_p.S578L|CEP70_uc011bmm.2_Missense_Mutation_p.S444L NM_024491 NP_077817 Q8NHQ1 CEP70_HUMAN Homo sapiens centrosomal protein 70kDa (CEP70), mRNA. 596 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 TTTTCAGTATGAAAGTACTTT 0.264000 134 13 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40474489 40474489 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:40474489C>T uc002hzl.1 - 20 2152 c.1912G>A c.(1912-1914)Gaa>Aaa p.E638K STAT3_uc002hzk.1_Missense_Mutation_p.E638K|STAT3_uc002hzm.1_Missense_Mutation_p.E638K|STAT3_uc010wgh.1_Missense_Mutation_p.E540K|STAT3_uc002hzn.1_Missense_Mutation_p.E638K NM_139276 NP_644805 P40763 STAT3_HUMAN Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA. 638 SH2. JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) GTGTATGGTTCCACGGACTGG 0.453000 Hyperimmunoglobulin E Recurrent Infection Syndrome 163 14 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60921218 60921218 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:60921218G>A uc002ycq.3 - 9 1403 c.1336C>T c.(1336-1338)Cga>Tga p.R446* LAMA5_uc021wfw.1_Nonsense_Mutation_p.R446* NM_005560 NP_005551 O15230 LAMA5_HUMAN Homo sapiens laminin, alpha 5 (LAMA5), mRNA. 446 Laminin EGF-like 3. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGTAGCATCGACCCGTCAGG 0.657000 31 6 0 0 1 0 0 PARP6 56965 broad.mit.edu 37 15 72553947 72553947 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:72553947G>A uc002auc.3 - 7 956 c.497C>T c.(496-498)aCc>aTc p.T166I PARP6_uc002aua.3_Missense_Mutation_p.T31I|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Missense_Mutation_p.T166I NM_020214 NP_064599 Q2NL67 PARP6_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA. 166 NAD+ ADP-ribosyltransferase activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 18 CTTCTTGATGGTACCACTTGC 0.478000 171 50 0 0 1 0 0 MAP2K6 5608 broad.mit.edu 37 17 67515549 67515549 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:67515549C>T uc002jij.3 + 4 630 c.342C>T c.(340-342)acC>acT p.T114T MAP2K6_uc002jii.3_Silent_p.T114T|MAP2K6_uc002jik.3_Silent_p.T144T NM_002758 NP_002749 P52564 MP2K6_HUMAN Homo sapiens mitogen-activated protein kinase kinase 6 (MAP2K6), mRNA. 114 Protein kinase. DNA damage induced protein phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|cell cycle arrest|innate immune response|muscle cell differentiation|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) TCACTGTCACCTTTTATGGCG 0.443000 101 6 0 0 1 0 0 CDRT1 374286 broad.mit.edu 37 17 15517241 15517241 + Silent SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:15517241A>T uc002gor.1 - 8 2044 c.1707T>A c.(1705-1707)gtT>gtA p.V569V CDRT1_uc002gov.4_Silent_p.V259V O95170 CDRT1_HUMAN Homo sapiens tripartite motif containing 16 (TRIM16), mRNA. 259 endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541) CATCCAGGTCAACCAATAGAT 0.468000 101 14 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155348104 155348104 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:155348104G>A uc009wqq.3 - 9 6795 c.6315C>T c.(6313-6315)acC>acT p.T2105T ASH1L_uc001fkt.3_Silent_p.T2100T NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA. 2105 AWS. DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|chromosome|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AGCCCTTCCTGGTGTCATCAT 0.418000 199 19 0 0 1 0 0 C11orf74 119710 broad.mit.edu 37 11 36669621 36669621 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:36669621C>T uc001mwy.1 + 4 487 c.414C>T c.(412-414)tcC>tcT p.S138S C11orf74_uc001mwx.1_Non-coding_Transcript|C11orf74_uc001mwz.1_Silent_p.S64S|C11orf74_uc010rfe.1_Non-coding_Transcript|C11orf74_uc010rfd.2_Non-coding_Transcript NM_138787 NP_620142 Q86VG3 CK074_HUMAN Homo sapiens chromosome 11 open reading frame 74 (C11orf74), mRNA. 138 breast(1)|kidney(1)|large_intestine(1)|lung(5) 8 all_lung(20;0.226) all_hematologic(20;0.0118) GCATTCCTTCCTGTATCCCTT 0.478000 24 3 0 0 1 0 0 POU2F1 5451 broad.mit.edu 37 1 167381364 167381364 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:167381364C>T uc001gec.3 + 14 1894 c.1655C>T c.(1654-1656)cCt>cTt p.P552L POU2F1_uc001gee.3_Missense_Mutation_p.P575L|POU2F1_uc010plh.2_Missense_Mutation_p.P512L|POU2F1_uc001ged.3_Missense_Mutation_p.P550L|POU2F1_uc001gef.3_Missense_Mutation_p.P564L|POU2F1_uc001geg.3_Missense_Mutation_p.P450L|POU2F1_uc009wvg.1_Non-coding_Transcript NM_001198783 NP_001185712 P14859 PO2F1_HUMAN Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA. 552 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 ACCTCCACTCCTTTGTCCTCC 0.602000 23 8 0 0 1 0 0 SLAMF1 6504 broad.mit.edu 37 1 160589593 160589593 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:160589593C>T uc001fwl.4 - 4 1183 c.837G>A c.(835-837)acG>acA p.T279T SLAMF1_uc010pjk.2_Intron|SLAMF1_uc010pjl.2_Intron|SLAMF1_uc010pjm.2_Intron NM_003037 NP_003028 Q13291 SLAF1_HUMAN Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA. 279 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity p.T279K(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GGGCATAGATCGTAAGGCTTT 0.443000 28 8 0 0 1 0 0 PDZD3 79849 broad.mit.edu 37 11 119060201 119060201 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:119060201G>A uc001pwb.3 + 8 2240 c.1716G>A c.(1714-1716)taG>taA p.*572* PDZD3_uc001pvz.3_Silent_p.*506*|PDZD3_uc010rzd.2_Silent_p.*493*|PDZD3_uc001pvy.3_Silent_p.*492*|PDZD3_uc001pwa.3_Silent_p.*202* Q86UT5 NHRF4_HUMAN Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA. 0 cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport apical part of cell|brush border|cytosol|membrane fraction|subapical complex guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 14 all_hematologic(175;0.0977) Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.52e-05) ATCTACTGTAGAGCACCCCTG 0.562000 97 12 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123087242 123087242 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:123087242C>T uc001ucv.3 + 45 4943 c.4780C>T c.(4780-4782)Cac>Tac p.H1594Y KNTC1_uc010taf.2_Intron NM_014708 NP_055523 P50748 KNTC1_HUMAN Homo sapiens kinetochore associated 1 (KNTC1), mRNA. 1594 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) ACTGCCTTTTCACCTGATATT 0.363000 42 7 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 17976544 17976544 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:17976544C>T uc010gqw.1 + 1 205 c.205C>T c.(205-207)Cgc>Tgc p.R69C CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'Flank NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA. 111 DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) CCTGCCTCTTCGCACACGGGT 0.542000 88 11 0 0 1 0 0 ACAP1 9744 broad.mit.edu 37 17 7240682 7240682 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:7240682G>A uc002ggd.2 + 1 311 c.105G>A c.(103-105)ctG>ctA p.L35L NM_014716 NP_055531 Q15027 ACAP1_HUMAN Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA. 35 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 AGACCCGTCTGGAAAAGGTGA 0.557000 68 7 0 0 1 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15586356 15586356 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:15586356G>A uc002nbg.3 - 1 1258 c.1125C>T c.(1123-1125)gcC>gcT p.A375A PGLYRP2_uc002nbf.4_Silent_p.A375A NM_052890 NP_443122 Q96PD5 PGRP2_HUMAN Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA. 375 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 CACCCAGGAAGGCCTCAGTGA 0.557000 153 29 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21101837 21101837 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:21101837C>T uc001iqi.3 - 23 2776 c.2379G>A c.(2377-2379)aaG>aaA p.K793K NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Silent_p.K130K|NEBL_uc021pnu.1_Silent_p.K130K NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 793 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 AGCCTCTCCCCTTTGTTTTTT 0.423000 11 3 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37949149 37949149 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:37949149T>G uc002hsu.3 - 3 263 c.201A>C c.(199-201)agA>agC p.R67S IKZF3_uc002htd.3_Missense_Mutation_p.R33S|IKZF3_uc010cwd.3_Intron|IKZF3_uc002hsv.3_Missense_Mutation_p.R33S|IKZF3_uc010cwe.3_Missense_Mutation_p.R67S|IKZF3_uc010cwf.3_Intron|IKZF3_uc010cwg.3_Intron|IKZF3_uc002hsw.3_Missense_Mutation_p.R67S|IKZF3_uc002hsx.3_Missense_Mutation_p.R67S|IKZF3_uc002hsy.3_Missense_Mutation_p.R67S|IKZF3_uc002hsz.3_Missense_Mutation_p.R67S|IKZF3_uc002hta.3_Missense_Mutation_p.R67S|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Intron|IKZF3_uc002htc.3_5'UTR NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA. 67 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CATTCTCATCTCTTTCACTGT 0.348000 27 3 0 0 1 0 0 RGS8 85397 broad.mit.edu 37 1 182616020 182616020 + Silent SNP C T T rs147293552 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:182616020C>T uc010pnw.1 - 6 651 c.393G>A c.(391-393)acG>acA p.T131T RGS8_uc001gpn.1_Silent_p.T131T|RGS8_uc001gpm.1_Silent_p.T149T NM_001102450 NP_001095920 P57771 RGS8_HUMAN Homo sapiens regulator of G-protein signaling 8 (RGS8), transcript variant 2, mRNA. 131 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.T149T(1) haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 5 GGTTCTTCCTCGTGGCTTCTC 0.527000 98 9 0 0 1 0 0 HSD3B2 3284 broad.mit.edu 37 1 119964903 119964903 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:119964903C>T uc001ehs.3 + 2 1552 c.779C>T c.(778-780)cCt>cTt p.P260L HSD3B2_uc021ost.1_Missense_Mutation_p.P260L|HSD3B2_uc001eht.3_Missense_Mutation_p.P260L|HSD3B2_uc001ehu.3_Intron NM_001166120 NP_001159592 P26439 3BHS2_HUMAN Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA. 260 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity p.T259M(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) GATGACACGCCTCACCAAAGC 0.512000 8 3 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34059748 34059748 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:34059748G>A uc003oir.4 - 1 1011 c.648C>T c.(646-648)ctC>ctT p.L216L GRM4_uc011dsn.2_Silent_p.L216L|GRM4_uc010jvh.3_Silent_p.L216L|GRM4_uc010jvi.3_Intron|GRM4_uc010jvk.1_Silent_p.L135L|GRM4_uc011dsl.2_Silent_p.L76L|GRM4_uc003oiq.3_Silent_p.L83L|GRM4_uc011dsm.2_Silent_p.L47L NM_000841 NP_000832 Q14833 GRM4_HUMAN Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA. 216 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) AGTTCCACTTGAGGGCACGGA 0.617000 41 5 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13418631 13418631 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:13418631C>T uc002mwy.3 - 14 2187 c.1951G>A c.(1951-1953)Gat>Aat p.D651N CACNA1A_uc010dzc.2_Missense_Mutation_p.D177N|CACNA1A_uc010xnd.2_Missense_Mutation_p.D651N|CACNA1A_uc021ups.1_Missense_Mutation_p.D651N|CACNA1A_uc010xne.2_Missense_Mutation_p.D651N|CACNA1A_uc010dze.2_Missense_Mutation_p.D651N|CACNA1A_uc021upt.1_Missense_Mutation_p.D652N NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 652 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GGAAAAGTATCGAAGTTGGTG 0.557000 94 16 0 0 1 0 0 LILRB4 11006 broad.mit.edu 37 19 55179188 55179188 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55179188G>A uc002qgp.3 + 10 1506 c.1144G>A c.(1144-1146)Gaa>Aaa p.E382K LILRB4_uc002qgq.3_Missense_Mutation_p.E381K|LILRB4_uc010ert.3_Missense_Mutation_p.E423K|LILRB4_uc010eru.3_Missense_Mutation_p.E412K NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA. 382 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) ACTGTCTGGGGAATTCCTGGA 0.592000 24 4 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2812843 2812843 + Missense_Mutation SNP C T T rs142703288 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:2812843C>T uc002crk.3 + 10 2863 c.2314C>T c.(2314-2316)Cgc>Tgc p.R772C SRRM2_uc002crj.1_Missense_Mutation_p.R676C|SRRM2_uc002crl.1_Missense_Mutation_p.R772C|SRRM2_uc010bsu.1_Missense_Mutation_p.R676C NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 772 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 AGCAAAATCTCGCTTGTCTTT 0.512000 201 15 0 0 1 0 0 CCDC113 29070 broad.mit.edu 37 16 58288049 58288049 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:58288049C>T uc002ene.3 + 2 455 c.376C>T c.(376-378)Ctg>Ttg p.L126L CCDC113_uc010vid.2_Intron NM_014157 NP_054876 Q9H0I3 CC113_HUMAN Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA. 126 protein complex large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 GGAACGCGACCTGCAGCATCA 0.557000 78 7 0 0 1 0 0 GAB1 2549 broad.mit.edu 37 4 144354782 144354782 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:144354782C>T uc003ijd.3 + 2 865 c.506C>T c.(505-507)cCa>cTa p.P169L GAB1_uc003ije.3_Missense_Mutation_p.P169L|GAB1_uc011chq.2_Missense_Mutation_p.P66L NM_207123 NP_997006 Q13480 GAB1_HUMAN Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA. 169 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 30 all_hematologic(180;0.158) AATGTTCCACCACACCTGGAA 0.453000 28 9 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20559468 20559468 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:20559468C>T uc002dhj.4 - 8 1224 c.1014G>A c.(1012-1014)ggG>ggA p.G338G ACSM2B_uc002dhk.4_Silent_p.G338G|ACSM2B_uc010bwf.1_Silent_p.G338G NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 338 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding p.G338R(1) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 GAAGGGACTCCCCTCCAGCGA 0.532000 62 14 0 0 1 0 0 RNF220 55182 broad.mit.edu 37 1 44877835 44877835 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:44877835C>T uc001clv.1 + 1 426 c.66C>T c.(64-66)tcC>tcT p.S22S RNF220_uc001clw.1_Silent_p.S22S NM_018150 NP_060620 Q5VTB9 RN220_HUMAN Homo sapiens ring finger protein 220 (RNF220), mRNA. 22 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 CTCTGGCATCCCCAGCACTGA 0.572000 77 15 0 0 1 0 0 CDR1 1038 broad.mit.edu 37 X 139866504 139866504 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:139866504G>A uc004fbg.1 - 0 220 c.28C>T c.(28-30)Ctg>Ttg p.L10L AK054921_uc004fbf.1_Non-coding_Transcript NM_004065 NP_004056 P51861 CDR1_HUMAN Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA. 10 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) ACGTCTTCCAGAAAATCCACG 0.428000 34 5 0 0 1 0 0 C3orf25 90288 broad.mit.edu 37 3 129120694 129120694 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:129120694C>T uc003emg.3 - 9 1624 c.1461_splice c.e9-1 p.R487_splice RPL32P3_uc003ema.3_5'Flank|RPL32P3_uc003emb.3_5'Flank|RPL32P3_uc003emd.1_5'Flank NM_207307 NP_997190 Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2) 23 CCTTCAGCTTCCTGGAAAACA 0.537000 15 4 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33154504 33154504 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:33154504C>T uc003ocx.1 - 4 926 c.698G>A c.(697-699)aGg>aAg p.R233K COL11A2_uc003ocy.1_Missense_Mutation_p.R233K|COL11A2_uc003ocz.1_Missense_Mutation_p.R233K|COL11A2_uc003oda.3_Missense_Mutation_p.R233K NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 233 Nonhelical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GGGTCTTTCCCTCTGGCCCCC 0.562000 118 35 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96917830 96917830 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:96917830C>T uc001yfn.2 + 9 1065 c.1021C>T c.(1021-1023)Cga>Tga p.R341* NM_152327 NP_689540 Q96M32 KAD7_HUMAN Homo sapiens adenylate kinase 7 (AK7), mRNA. 341 cell projection organization cytosol ATP binding|adenylate kinase activity|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) TTTTAATATTCGATGGGCTGC 0.393000 43 5 0 0 1 0 0 TMC1 117531 broad.mit.edu 37 9 75403355 75403355 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:75403355G>A uc004aiz.1 + 13 1525 c.985G>A c.(985-987)Gaa>Aaa p.E329K TMC1_uc010moz.1_Missense_Mutation_p.E287K|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.E183K|TMC1_uc010mpa.1_Missense_Mutation_p.E183K NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN Homo sapiens transmembrane channel-like 1 (TMC1), mRNA. 329 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 CGGCAATCCTGAAACAGCAGA 0.393000 25 4 0 0 1 0 0 SFXN3 81855 broad.mit.edu 37 10 102799291 102799291 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:102799291C>T uc010qpx.2 + 10 1099 c.939C>T c.(937-939)atC>atT p.I313I SFXN3_uc001ksp.3_Silent_p.I309I NM_030971 NP_112233 Q9BWM7 SFXN3_HUMAN Homo sapiens sideroflexin 3 (SFXN3), mRNA. 309 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Colorectal(252;0.234) Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) GAGCTCAGATCCATGAGCAAA 0.537000 116 7 0 0 1 0 0 ACOT11 26027 broad.mit.edu 37 1 55072914 55072914 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:55072914C>T uc001cxm.2 + 13 1654 c.1478C>T c.(1477-1479)tCg>tTg p.S493L ACOT11_uc001cxj.2_Missense_Mutation_p.S371L|ACOT11_uc001cxl.2_Missense_Mutation_p.S493L NM_015547 NP_056362 Q8WXI4 ACO11_HUMAN Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA. 493 START. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity p.A492D(1) NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 ATCCTGGCCTCGAGGCGGAAG 0.627000 45 12 0 0 1 0 0 UBE2O 63893 broad.mit.edu 37 17 74387427 74387427 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:74387427G>A uc002jrm.4 - 17 3541 c.3476C>T c.(3475-3477)cCc>cTc p.P1159L UBE2O_uc002jrl.4_Missense_Mutation_p.P763L NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA. 1159 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 CACCCCGTTGGGCAGTGCCTG 0.642000 39 10 0 0 1 0 0 HIP1 3092 broad.mit.edu 37 7 75182875 75182875 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:75182875G>A uc003uds.2 - 21 2217 c.2172C>T c.(2170-2172)gcC>gcT p.A724A HIP1_uc011kfz.2_Silent_p.A724A NM_005338 NP_005329 O00291 HIP1_HUMAN Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA. 724 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 ACTGCTTACAGGCCTCGGTCA 0.562000 T PDGFRB CMML 36 9 0 0 1 0 0 ZSCAN2 54993 broad.mit.edu 37 15 85164531 85164531 + Missense_Mutation SNP G A A rs144452460 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:85164531G>A uc002bkr.3 + 2 1331 c.1105G>A c.(1105-1107)Gaa>Aaa p.E369K ZSCAN2_uc010bmz.1_Missense_Mutation_p.E367K|ZSCAN2_uc010bna.3_Missense_Mutation_p.E219K|ZSCAN2_uc010uoz.1_Intron|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron NM_181877 NP_870992 Q7Z7L9 ZSCA2_HUMAN Homo sapiens zinc finger and SCAN domain containing 2 (ZSCAN2), transcript variant 1, mRNA. 369 cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E369K(2) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1) 19 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) AGAATGCGGCGAAAGCTTTAG 0.502000 102 8 0 0 1 0 0 FAM113A 64773 broad.mit.edu 37 20 2816862 2816862 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:2816862G>A uc002wgz.1 - 6 1437 c.940C>T c.(940-942)Cca>Tca p.P314S FAM113A_uc010zqa.1_Missense_Mutation_p.P161S|FAM113A_uc002whc.1_Missense_Mutation_p.P263S NM_022760 NP_073597 Q9H1Q7 F113A_HUMAN Homo sapiens family with sequence similarity 113, member A (FAM113A), mRNA. 314 Poly-Pro. hydrolase activity|protein binding p.P313P(1) breast(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(4) 17 gaagaaggtgggggtgggagc 0.602000 94 5 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41149419 41149419 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:41149419C>T uc003jmk.2 - 16 2757 c.2547G>A c.(2545-2547)agG>agA p.R849R C6_uc003jml.1_Silent_p.R849R NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 849 C5b-binding domain. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.R849R(2) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AAAGTCTTGTCCTTTCAAGAC 0.418000 9 4 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823255 38823255 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:38823255C>T uc003avs.1 - 1 980 c.883G>A c.(883-885)Gag>Aag p.E295K KCNJ4_uc003avt.1_Missense_Mutation_p.E295K|KCNJ4_uc021wpp.1_Missense_Mutation_p.E295K NM_004981 NP_690607 P48050 IRK4_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA. 295 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex PDZ domain binding|inward rectifier potassium channel activity endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) GCCGTGGCCTCCACCATGCCC 0.627000 36 8 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79403901 79403901 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:79403901G>A uc001diq.4 - 4 616 c.460C>T c.(460-462)Ctt>Ttt p.L154F NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA. 154 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GTTGGTGAAAGATCTGTCACA 0.338000 17 7 0 0 1 0 0 KANK2 25959 broad.mit.edu 37 19 11303708 11303708 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:11303708G>A uc002mqm.3 - 1 1127 c.1048C>T c.(1048-1050)Ccc>Tcc p.P350S KANK2_uc021upe.1_Missense_Mutation_p.P350S|KANK2_uc002mqo.4_Missense_Mutation_p.P350S|KANK2_uc002mqp.1_Missense_Mutation_p.P159S|KANK2_uc002mqq.3_Missense_Mutation_p.P350S NM_015493 NP_056308 Q63ZY3 KANK2_HUMAN Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA. 350 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CGCTGTGCGGGGGCGCCAGCG 0.716000 20 4 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53630442 53630442 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:53630442G>A uc004dsp.3 - 26 3165 c.2763C>T c.(2761-2763)tcC>tcT p.S921S NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA. 921 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ACTGGTTTACGGAGATGGAAC 0.418000 7 4 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228886515 228886515 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:228886515C>T uc002vpq.2 - 5 656 c.609G>A c.(607-609)acG>acA p.T203T SPHKAP_uc002vpp.2_Silent_p.T203T|SPHKAP_uc010zlx.1_Silent_p.T203T NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 203 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AGGAACAGTTCGTGTCATCCT 0.463000 41 5 0 0 1 0 0 PDPR 55066 broad.mit.edu 37 16 70154551 70154551 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:70154551C>T uc002eyf.1 + 2 1113 c.156C>T c.(154-156)atC>atT p.I52I CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Intron NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA. 52 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) GAGGTGGAATCACGGGCACTT 0.572000 60 6 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32188271 32188271 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:32188271T>G uc003obb.3 - 5 1209 c.1070A>C c.(1069-1071)gAt>gCt p.D357A NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.D357A NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 357 EGF-like 9; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 AATACAGTCATCCAGGTTCTC 0.612000 281 17 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42333050 42333050 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:42333050G>A uc002igf.4 - 13 1940 c.1791C>T c.(1789-1791)ttC>ttT p.F597F SLC4A1_uc021tyc.1_Intron NM_000342 NP_000333 P02730 B3AT_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA. 597 Involved in anion transport.|Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CCTTGCCAGGGAAATAGGAGC 0.587000 75 4 0 0 1 0 0 LOC649330 649330 broad.mit.edu 37 1 12908038 12908038 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12908038C>T uc010obf.2 - 1 331 c.105G>A c.(103-105)gcG>gcA p.A35A LOC649330_uc009vno.2_Silent_p.A35A NM_001013631 NP_001013653 B7ZW38 B7ZW38_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA. 35 nucleic acid binding|nucleotide binding p.A35A(1) TGGAAAAGATCGCCTCCACAT 0.473000 76 4 0 0 1 0 0 SLC2A5 6518 broad.mit.edu 37 1 9097990 9097990 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:9097990T>C uc001apo.3 - 10 1560 c.1268A>G c.(1267-1269)aAc>aGc p.N423S SLC2A5_uc010nzy.2_Missense_Mutation_p.N364S|SLC2A5_uc010nzz.2_Missense_Mutation_p.N308S|SLC2A5_uc010oaa.2_Missense_Mutation_p.N379S NM_003039 NP_003030 P22732 GTR5_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA. 423 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CACGGTGAAGTTGGAGAGCCA 0.632000 37 14 0 0 1 0 0 SOCS7 30837 broad.mit.edu 37 17 36521269 36521269 + Missense_Mutation SNP C T T rs145376452 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:36521269C>T uc002hqa.3 + 3 1158 c.1037C>T c.(1036-1038)cCg>cTg p.P346L SOCS7_uc010cvl.3_Intron|SOCS7_uc002hqb.3_Non-coding_Transcript NM_014598 NP_055413 O14512 SOCS7_HUMAN Homo sapiens suppressor of cytokine signaling 7 (SOCS7), mRNA. 346 Mediates interaction with SORBS3.|Poly-Pro. intracellular signal transduction|negative regulation of signal transduction|regulation of growth cytoplasm|nucleus|plasma membrane SH3 domain binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5) 9 Breast(7;3.47e-17) CCCCTACCTCCGCCTCCTCCA 0.498000 50 9 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125521504 125521504 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:125521504G>A uc001lhk.1 - 10 1986 c.1661C>T c.(1660-1662)tCc>tTc p.S554F CPXM2_uc001lhj.3_Non-coding_Transcript NM_198148 NP_937791 Q8N436 CPXM2_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA. 554 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GGAGGCATAGGAGTAGGCCAG 0.662000 57 5 0 0 1 0 0 ACTG1 71 broad.mit.edu 37 17 79478095 79478095 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:79478095G>A uc002kak.2 - 4 1100 c.842C>T c.(841-843)tCc>tTc p.S281F ACTG1_uc002kag.3_Non-coding_Transcript|ACTG1_uc002kal.2_Missense_Mutation_p.S281F|ACTG1_uc021ufb.1_5'Flank NM_001199954 NP_001186883 P63261 ACTG_HUMAN Homo sapiens actin, gamma 1 (ACTG1), transcript variant 1, mRNA. 281 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1) 29 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) CTTCATGATGGAGTTGAAGGT 0.562000 88 35 0 0 1 0 0 FAM210A 125228 broad.mit.edu 37 18 13666501 13666501 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:13666501G>A uc010dlh.3 - 4 1229 c.797C>T c.(796-798)tCc>tTc p.S266F FAM210A_uc010dlg.3_3'UTR|FAM210A_uc010dli.3_Missense_Mutation_p.S266F|FAM210A_uc002ksj.4_Missense_Mutation_p.S266F|FAM210A_uc010dlj.3_Non-coding_Transcript NM_001098801 NP_689565 Q96ND0 CR019_HUMAN Homo sapiens family with sequence similarity 210, member A (FAM210A), transcript variant 1, mRNA. 266 integral to membrane TTTCTTAAAGGAAACTTTTTC 0.358000 25 5 0 0 1 0 0 SLC6A17 388662 broad.mit.edu 37 1 110738354 110738354 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:110738354T>G uc009wfq.3 + 9 2100 c.1639T>G c.(1639-1641)Tat>Gat p.Y547D NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA. 547 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) GGCCTGGATTTATGGAACCAA 0.522000 44 3 0 0 1 0 0 BPIFC 254240 broad.mit.edu 37 22 32841979 32841979 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:32841979C>T uc003amn.2 - 3 379 c.379G>A c.(379-381)Gac>Aac p.D127N BPIFC_uc010gwo.2_5'UTR|BPIFC_uc011amb.1_Intron NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN Homo sapiens BPI fold containing family C (BPIFC), mRNA. 127 extracellular region lipopolysaccharide binding|phospholipid binding CCTCCTGTGTCTTGGCTGTTT 0.478000 44 8 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9434098 9434098 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:9434098G>A uc021wam.1 + 28 2964 c.2949G>A c.(2947-2949)atG>atA p.M983I PLCB4_uc010gbw.1_Missense_Mutation_p.M983I|PLCB4_uc010gbx.3_Missense_Mutation_p.M995I|PLCB4_uc021wal.1_Missense_Mutation_p.M983I|PLCB4_uc002wnh.3_Missense_Mutation_p.M830I NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 983 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AGAAGGCAATGAAGAAGAAGG 0.388000 7 4 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38993313 38993313 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:38993313C>T uc002oit.3 + 47 7911 c.7781C>T c.(7780-7782)tCg>tTg p.S2594L RYR1_uc002oiu.3_Missense_Mutation_p.S2594L|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 2594 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.R2593H(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CGGGGTCGTTCGCTCACCAAG 0.652000 37 8 0 0 1 0 0 TNFAIP2 7127 broad.mit.edu 37 14 103593877 103593877 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:103593877C>T uc001ymm.1 + 1 902 c.771C>T c.(769-771)ttC>ttT p.F257F TNFAIP2_uc010awo.1_Intron|TNFAIP2_uc010txz.1_5'UTR NM_006291 NP_006282 Q03169 TNAP2_HUMAN Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA. 257 angiogenesis|cell differentiation extracellular space NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 11 Melanoma(154;0.155) Epithelial(46;0.191) ACCAGCACTTCGCGGCCCACC 0.677000 17 4 0 0 1 0 0 UROC1 131669 broad.mit.edu 37 3 126219538 126219538 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:126219538C>T uc010hsi.2 - 12 1379 c.1325_splice c.e12+1 p.S442_splice UROC1_uc003eiz.2_Splice_Site_p.S382_splice NM_001165974 NP_001159446 Q96N76 HUTU_HUMAN Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA. 382 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) CAAGTAGCACCTTTCCTGGAC 0.602000 85 7 0 0 1 0 0 PACS1 55690 broad.mit.edu 37 11 65978611 65978611 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:65978611C>T uc001oha.2 + 3 675 c.541C>T c.(541-543)Cat>Tat p.H181Y PACS1_uc001ogz.1_Missense_Mutation_p.H181Y NM_018026 NP_060496 Q6VY07 PACS1_HUMAN Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA. 181 Missing (in Ref. 2; BAC04831). interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 GTAGTACCCTCATTTCCTTAA 0.488000 186 19 0 0 1 0 0 SIAH3 283514 broad.mit.edu 37 13 46425736 46425736 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:46425736G>A uc001vap.3 - 0 111 c.29C>T c.(28-30)gCt>gTt p.A10V NM_198849 NP_942146 Q8IW03 SIAH3_HUMAN Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA. 10 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 ATCTAATACAGCCCCAAAGCA 0.537000 37 5 0 0 1 0 0 ICK 22858 broad.mit.edu 37 6 52874275 52874275 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:52874275G>A uc003pbh.2 - 12 2073 c.1583C>T c.(1582-1584)tCt>tTt p.S528F ICK_uc003pbi.2_Missense_Mutation_p.S528F NM_016513 NP_057597 Q9UPZ9 ICK_HUMAN Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA. 528 intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TGTCCCTGAAGATTTTCCAGA 0.413000 34 4 0 0 1 0 0 OR1F2P 26184 broad.mit.edu 37 16 3266316 3266316 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:3266316G>A uc010uwv.2 + 0 755 c.607G>A c.(607-609)Gcc>Acc p.A203T Homo sapiens olfactory receptor, family 1, subfamily F, member 2 (OR1F2P), non-coding RNA. AAGATGGAAAGCCTTCTCCAC 0.527000 22 4 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142200475 142200475 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:142200475G>A uc003yvy.3 + 19 3376 c.3098G>A c.(3097-3099)gGc>gAc p.G1033D DENND3_uc010mep.3_Missense_Mutation_p.G994D|DENND3_uc003ywa.1_Missense_Mutation_p.G83D|DENND3_uc003ywb.3_Missense_Mutation_p.G83D NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 1033 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CCGCGAGGTGGCCTGACGTCC 0.647000 43 14 0 0 1 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55286736 55286736 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55286736G>A uc010erz.1 + 3 528 c.490G>A c.(490-492)Ggg>Agg p.G164R KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Non-coding_Transcript|KIR2DL1_uc002qhb.1_Missense_Mutation_p.G164R NM_014218 NP_055033 P43626 KI2L1_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA. 164 Ig-like C2-type 2. immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) ATCCAGGGAAGGGGAGGCCCA 0.612000 110 5 0 0 1 0 0 OR7G2 390882 broad.mit.edu 37 19 9213024 9213024 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9213024C>T uc010xkk.2 - 0 959 c.959G>A c.(958-960)gGa>gAa p.G320E NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA. 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 CCTCAAGGTTCCTTTCATGTC 0.443000 44 4 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117431893 117431893 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:117431893G>A uc003vjf.3 - 3 1449 c.1357C>T c.(1357-1359)Cag>Tag p.Q453* NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA. 453 Pro-rich. breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GCATTGCCCTGAAATCTAAAT 0.478000 225 15 0 0 1 0 0 TTLL4 9654 broad.mit.edu 37 2 219603031 219603031 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:219603031C>T uc002viy.3 + 2 1002 c.632C>T c.(631-633)tCc>tTc p.S211F TTLL4_uc010zkl.1_Missense_Mutation_p.S46F|TTLL4_uc010fvx.3_Missense_Mutation_p.S211F NM_014640 NP_055455 Q14679 TTLL4_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA. 211 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity p.S210Y(1) endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) CCACTCTCTTCCTCCTATAAG 0.532000 73 12 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12904461 12904461 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:12904461C>T uc004cvc.3 + 2 973 c.834C>T c.(832-834)ccC>ccT p.P278P NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN Homo sapiens toll-like receptor 7 (TLR7), mRNA. 278 I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) ATAATTCTCCCCTACAGATCC 0.398000 32 4 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42049962 42049962 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:42049962G>A uc001cgz.4 - 3 1720 c.507C>T c.(505-507)tcC>tcT p.S169S HIVEP3_uc001cha.4_Silent_p.S169S|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 169 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) AGGAGACCTGGGAAGGACGAG 0.602000 140 9 0 0 1 0 0 ISCA2 122961 broad.mit.edu 37 14 74961580 74961580 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:74961580C>T uc001xpz.2 + 3 370 c.342C>T c.(340-342)gcC>gcT p.A114A NPC2_uc001xpy.3_5'Flank|NPC2_uc010tus.2_5'Flank NM_194279 NP_919255 Q86U28 ISCA2_HUMAN Homo sapiens iron-sulfur cluster assembly 2 homolog (S. cerevisiae) (ISCA2), mRNA. 114 iron-sulfur cluster assembly mitochondrion iron-sulfur cluster binding|metal ion binding|structural molecule activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00146) ATAGCTTGGCCTTCGTGAAAG 0.498000 64 4 0 0 1 0 0 SIX6 4990 broad.mit.edu 37 14 60977969 60977969 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:60977969G>A uc001xfa.4 + 1 919 c.740G>A c.(739-741)tGa>tAa p.*247* NM_007374 NP_031400 O95475 SIX6_HUMAN Homo sapiens SIX homeobox 6 (SIX6), mRNA. 0 organ morphogenesis|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2) 11 OV - Ovarian serous cystadenocarcinoma(108;0.088) TGCGACATCTGAGTTGCCCAT 0.562000 69 6 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201750306 201750306 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:201750306C>T uc021phi.1 + 4 1879 c.1532C>T c.(1531-1533)tCa>tTa p.S511L NAV1_uc001gwu.3_Missense_Mutation_p.S511L|NAV1_uc001gwv.1_Missense_Mutation_p.S19L|NAV1_uc001gww.2_Missense_Mutation_p.S120L|NAV1_uc001gwx.3_Missense_Mutation_p.S120L|NAV1_uc001gwy.1_5'Flank NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA. 511 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 TGTGATGATTCATCCAAGGGT 0.552000 91 5 0 0 1 0 0 GLS2 27165 broad.mit.edu 37 12 56874097 56874097 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:56874097C>T uc001slj.3 - 1 536 c.257G>A c.(256-258)cGa>cAa p.R86Q GLS2_uc021qzb.1_Missense_Mutation_p.R49Q|GLS2_uc021qzc.1_Non-coding_Transcript|GLS2_uc021qzd.1_5'UTR|GLS2_uc009zos.3_Non-coding_Transcript|GLS2_uc001slk.3_5'UTR|GLS2_uc009zot.3_5'UTR NM_013267 NP_037399 Q9UI32 GLSL_HUMAN Homo sapiens glutaminase 2 (liver, mitochondrial) (GLS2), nuclear gene encoding mitochondrial protein, mRNA. 86 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GATAGGGATTCGTTCCTGTCC 0.478000 67 8 0 0 1 0 0 PRIC285 85441 broad.mit.edu 37 20 62196998 62196998 + Silent SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:62196998A>T uc002yfm.2 - 8 4069 c.3177T>A c.(3175-3177)gcT>gcA p.A1059A PRIC285_uc002yfl.1_Silent_p.A490A NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA. 1059 Ala-rich. cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2) 47 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) GCCAGAAGTCAGCCTCTGCAT 0.672000 41 4 0 0 1 0 0 SSTR1 6751 broad.mit.edu 37 14 38678772 38678772 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:38678772C>T uc021rsi.1 + 0 178 c.178C>T c.(178-180)Ctg>Ttg p.L60L SSTR1_uc001wul.1_Silent_p.L60L NM_001049 NP_001040 P30872 SSR1_HUMAN Homo sapiens somatostatin receptor 1 (SSTR1), mRNA. 60 G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) CAGCGCCATCCTGATCTCTTT 0.642000 40 6 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89350159 89350159 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:89350159G>A uc002fmx.1 - 8 3252 c.2791C>T c.(2791-2793)Cct>Tct p.P931S ANKRD11_uc002fmy.1_Missense_Mutation_p.P931S|ANKRD11_uc002fnc.1_Missense_Mutation_p.P931S|ANKRD11_uc002fnb.1_Missense_Mutation_p.P888S NM_013275 NP_037407 Q6UB99 ANR11_HUMAN Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA. 931 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) AGGTAGCCAGGGACACTTTTA 0.542000 134 7 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94038411 94038411 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:94038411G>A uc001ybv.1 + 11 1479 c.1396G>A c.(1396-1398)Gaa>Aaa p.E466K UNC79_uc001ybs.1_Missense_Mutation_p.E466K NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 643 integral to membrane p.E466K(1) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TCAGTTAAAAGAATTCAGGGA 0.408000 16 5 0 0 1 0 0 CYP4F22 126410 broad.mit.edu 37 19 15636216 15636217 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:15636216_15636217GG>AA uc002nbh.4 + 2 236_237 c.69_70GG>AA c.(67-72)gcggtg>gcAAtg p.V24M NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA. 24 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 GCATATACGCGGTGTCCACCCT 0.644000 41 8 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884435 24884435 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:24884435C>T uc001wpf.4 + 8 3798 c.3480C>T c.(3478-3480)ttC>ttT p.F1160F NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 1160 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 AGCTGCCCTTCCGCCTGGAGG 0.647000 56 4 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106969055 106969055 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:106969055G>A uc003prh.3 + 1 3660 c.2748G>A c.(2746-2748)ttG>ttA p.L916L NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN Homo sapiens absent in melanoma 1 (AIM1), mRNA. 916 sugar binding p.L916*(1) breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) ACTCCAGTTTGAAAAGTCCAA 0.423000 58 4 0 0 1 0 0 C15orf55 256646 broad.mit.edu 37 15 34640229 34640229 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:34640229C>T uc010ucc.2 + 2 542 c.160C>T c.(160-162)Cct>Tct p.P54S C15orf55_uc010ucd.2_Missense_Mutation_p.P44S|C15orf55_uc001zif.3_Missense_Mutation_p.P26S NM_175741 NP_786883 Q86Y26 NUT_HUMAN Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA. 26 Pro-rich. cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) large_intestine(2)|ovary(3)|skin(2) 7 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) GTCTCCATCCCCTGCACTTCC 0.532000 T """BRD3, BRD4""" lethal midline carcinoma 55 6 0 0 1 0 0 TDRD10 126668 broad.mit.edu 37 1 154516517 154516517 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:154516517G>A uc009wow.3 + 8 1420 c.582G>A c.(580-582)ggG>ggA p.G194G TDRD10_uc001ffd.3_Silent_p.G194G|TDRD10_uc001ffe.3_Silent_p.G115G NM_001098475 NP_001091945 Q5VZ19 TDR10_HUMAN Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA. 194 RNA binding|nucleotide binding p.R193L(2) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) GCGTCCGTGGGGAGGCGGGGC 0.622000 122 17 0 0 1 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35180711 35180711 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:35180711G>A uc003teq.1 - 10 1386 c.279C>T c.(277-279)ttC>ttT p.F93F DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA. ACATCAAAATGAAACTAAGGG 0.264000 11 3 0 0 1 0 0 UNC80 285175 broad.mit.edu 37 2 210658535 210658535 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:210658535G>A uc010zjc.1 + 6 970 c.890G>A c.(889-891)gGa>gAa p.G297E UNC80_uc021vvx.1_Missense_Mutation_p.G297E|UNC80_uc002vdj.1_Missense_Mutation_p.G297E NM_032504 NP_115893 Q8N2C7 UNC80_HUMAN Homo sapiens unc-80 homolog (C. elegans) (UNC80), transcript variant 1, mRNA. 297 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 TCCTTTGATGGAAGTCTGTCC 0.483000 55 5 0 0 1 0 0 SERPINF2 5345 broad.mit.edu 37 17 1651891 1651891 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:1651891G>A uc002ftk.1 + 8 793 c.716_splice c.e8-1 p.G239_splice SERPINF2_uc010vqr.1_Splice_Site_p.G175_splice|SERPINF2_uc021tnm.1_Splice_Site_p.G239_splice NM_000934 NP_001159392 P08697 A2AP_HUMAN Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA. 239 acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) Streptokinase(DB00086) CTGGGTTTCAGGTTTCTGGAG 0.632000 91 19 0 0 1 0 0 INMT 11185 broad.mit.edu 37 7 30793474 30793474 + Silent SNP G A A rs113474959 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:30793474G>A uc003tbs.1 + 1 298 c.282G>A c.(280-282)ctG>ctA p.L94L FAM188B_uc010kwe.3_5'UTR|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Silent_p.L93L NM_006774 NP_006765 O95050 INMT_HUMAN Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA. 94 cytoplasm amine N-methyltransferase activity kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1) 23 GGGAGGAGCTGGAAAAGTGGC 0.562000 181 13 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151509334 151509334 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:151509334G>A uc010ipj.3 - 40 6473 c.6229C>T c.(6229-6231)Cct>Tct p.P2077S LRBA_uc003ilt.4_Missense_Mutation_p.P725S|LRBA_uc003ilu.4_Missense_Mutation_p.P2066S NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 2077 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding p.G2076G(1) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) AGGCTAACAGGACCTGCCAAA 0.433000 20 5 0 0 1 0 0 DNPEP 23549 broad.mit.edu 37 2 220247935 220247935 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:220247935G>A uc002vle.2 - 10 999 c.853_splice c.e10-1 p.A285_splice DNPEP_uc002vli.2_Splice_Site_p.A232_splice|DNPEP_uc010zlg.2_Splice_Site_p.A293_splice NM_012100 NP_036232 Q9ULA0 DNPEP_HUMAN Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA. 275 peptide metabolic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Renal(207;0.0474) Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) L-Glutamic Acid(DB00142) ATCTATCAAGGCCTGGTTCAG 0.587000 57 4 0 0 1 0 0 OR4E2 26686 broad.mit.edu 37 14 22133660 22133660 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:22133660C>T uc010tmd.2 + 0 364 c.364C>T c.(364-366)Cgt>Tgt p.R122C NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) GGCGTATGATCGTTACGTGGC 0.468000 64 5 0 0 1 0 0 PPYR1 5540 broad.mit.edu 37 10 47087593 47087593 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:47087593G>A uc001jee.3 + 2 1229 c.810G>A c.(808-810)atG>atA p.M270I ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.M270I|PPYR1_uc021ppu.1_Missense_Mutation_p.M270I NM_005972 NP_005963 P50391 NPY4R_HUMAN Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA. 270 blood circulation|digestion|feeding behavior integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TGGTGGTGATGGTGGTGGCCT 0.602000 96 5 0 0 1 0 0 ADAP2 55803 broad.mit.edu 37 17 29253878 29253878 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:29253878G>A uc010csk.3 + 2 556 c.277G>A c.(277-279)Gcc>Acc p.A93T ADAP2_uc002hfy.3_Missense_Mutation_p.A87T|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Missense_Mutation_p.A87T NM_018404 NP_060874 Q9NPF8 ADAP2_HUMAN Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA. 87 Arf-GAP. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.V93A(1)|p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 CCGTGTGAAGGCCAAGTTCGA 0.493000 31 5 0 0 1 0 0 TRPM5 29850 broad.mit.edu 37 11 2429124 2429124 + Missense_Mutation SNP G A A rs78068524 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:2429124G>A uc010qxl.2 - 18 2810 c.2801C>T c.(2800-2802)tCc>tTc p.S934F TRPM5_uc001lwm.4_Missense_Mutation_p.S934F|TRPM5_uc009ydn.3_Missense_Mutation_p.S936F NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA. 934 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) TGGGTGGGTGGAGCAGTTCAC 0.617000 298 55 0 0 1 0 0 KBTBD12 166348 broad.mit.edu 37 3 127702981 127702981 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:127702981C>T uc010hsr.3 + 4 1735 c.1732C>T c.(1732-1734)Cca>Tca p.P578S KBTBD12_uc003ejy.4_Missense_Mutation_p.P185S|KBTBD12_uc010hsq.3_Non-coding_Transcript|KBTBD12_uc003eka.4_Missense_Mutation_p.P153S NM_207335 NP_997218 Q3ZCT8 KBTBC_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA. 578 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 GGAACTGGACCCATGGGAAAA 0.458000 90 7 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460341 107460341 + Silent SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:107460341G>T uc002tdq.3 - 1 212 c.93C>A c.(91-93)acC>acA p.T31T ST6GAL2_uc002tdr.3_Silent_p.T31T|ST6GAL2_uc002tds.3_Silent_p.T31T NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 31 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GGTTGCTGTCGGTGAAGTAGA 0.572000 55 4 0.150653 0.151351 1 1 0 SLC2A10 81031 broad.mit.edu 37 20 45353687 45353687 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:45353687C>T uc002xsl.3 + 1 109 c.12C>T c.(10-12)tcC>tcT p.S4S NM_030777 NP_110404 O95528 GTR10_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA. 4 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) TAGGCCACTCCCCACCTGTCC 0.507000 81 5 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74288017 74288017 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:74288017G>A uc002jrd.1 - 3 2473 c.2293C>T c.(2293-2295)Ctg>Ttg p.L765L QRICH2_uc010dgw.1_Intron NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN Homo sapiens glutamine rich 2 (QRICH2), mRNA. 765 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 GGTTGTACCAGGCCATGTGGA 0.532000 158 10 0 0 1 0 0 VPS26B 112936 broad.mit.edu 37 11 134114857 134114857 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:134114857C>T uc001qhe.3 + 4 1203 c.747C>T c.(745-747)ttC>ttT p.F249F NM_052875 NP_443107 Q4G0F5 VP26B_HUMAN Homo sapiens vacuolar protein sorting 26 homolog B (S. pombe) (VPS26B), mRNA. 249 protein transport|vacuolar transport cytosol|retromer complex breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7) 14 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216) TCCGGCTCTTCCTGGCCGGGT 0.597000 OREG0021548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 4 0 0 1 0 0 MAT1A 4143 broad.mit.edu 37 10 82033635 82033635 + Missense_Mutation SNP A C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:82033635A>C uc001kbw.3 - 8 1345 c.1090T>G c.(1090-1092)Ttg>Gtg p.L364V NM_000429 NP_000420 Q00266 METK1_HUMAN Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA. 364 S-adenosylmethionine biosynthetic process|methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TTCAAGTCCAAATCCCTGCAT 0.498000 89 9 0 0 1 0 0 NR2E3 10002 broad.mit.edu 37 15 72105937 72105937 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:72105937G>A uc002ati.3 + 6 1145 c.955G>A c.(955-957)Gag>Aag p.E319K NR2E3_uc002ath.1_Missense_Mutation_p.E319K NM_014249 NP_055064 Q9Y5X4 NR2E3_HUMAN Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA. 319 phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|endometrium(1)|lung(1) 3 GACCCCCACGGAGTTTGCCTG 0.607000 40 6 0 0 1 0 0 DENND1C 79958 broad.mit.edu 37 19 6468065 6468065 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:6468065G>A uc002mfe.3 - 22 1948 c.1856C>T c.(1855-1857)tCc>tTc p.S619F DENND1C_uc002mfb.3_Missense_Mutation_p.S169F|DENND1C_uc002mfc.3_Missense_Mutation_p.S169F|DENND1C_uc002mfd.3_Missense_Mutation_p.S169F|DENND1C_uc010xje.2_Missense_Mutation_p.S575F NM_024898 NP_079174 Q8IV53 DEN1C_HUMAN Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA. 619 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 GGATGGCAGGGAAAGGGGCTG 0.537000 38 5 0 0 1 0 0 ALG13 79868 broad.mit.edu 37 X 110970077 110970077 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:110970077C>T uc011msy.2 + 15 1871 c.1770C>T c.(1768-1770)ttC>ttT p.F590F ALG13_uc011msx.2_Silent_p.F486F|ALG13_uc011msz.2_Silent_p.F512F|ALG13_uc011mta.2_Silent_p.F486F|ALG13_uc011mtb.2_Silent_p.F486F NM_001099922 NP_001093392 Q9NP73 ALG13_HUMAN Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA. 590 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding endometrium(2)|lung(10)|skin(1) 13 AGAAGATGTTCAAGAAAATTC 0.448000 25 15 0 0 1 0 0 MBIP 51562 broad.mit.edu 37 14 36768293 36768293 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:36768293G>A uc001wtm.2 - 8 1119 c.1031C>T c.(1030-1032)cCa>cTa p.P344L MBIP_uc001wto.2_Missense_Mutation_p.P343L|MBIP_uc010tpy.1_Missense_Mutation_p.P203L|MBIP_uc001wtn.2_3'UTR NM_016586 NP_057670 Q9NS73 MBIP1_HUMAN Homo sapiens MAP3K12 binding inhibitory protein 1 (MBIP), transcript variant 1, mRNA. 344 Interaction with MAP3K12. histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus identical protein binding|protein kinase inhibitor activity breast(2)|large_intestine(1)|lung(5) 8 all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164) Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781) GBM - Glioblastoma multiforme(112;0.0191) AGTTTTTCATGGAAGGTGGTG 0.363000 51 10 0 0 1 0 0 NOX3 50508 broad.mit.edu 37 6 155750012 155750012 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:155750012C>T uc003qqm.3 - 8 1164 c.1061G>A c.(1060-1062)cGg>cAg p.R354Q NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN Homo sapiens NADPH oxidase 3 (NOX3), mRNA. 354 FAD-binding FR-type. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding p.R354W(1) cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) TCCTGCTGCCCGGATGTGCAC 0.617000 60 6 0 0 1 0 0 KRT35 3886 broad.mit.edu 37 17 39637053 39637053 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39637053C>T uc002hws.3 - 0 340 c.297G>A c.(295-297)gaG>gaA p.E99E NM_002280 NP_002271 Q92764 KRT35_HUMAN Homo sapiens keratin 35 (KRT35), mRNA. 99 Coil 1A.|Rod. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) ATTGCATGGTCTCCTTCTCAT 0.642000 53 8 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7289618 7289618 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:7289618C>T uc001qss.3 + 5 1696 c.1158C>T c.(1156-1158)ttC>ttT p.F386F CLSTN3_uc001qsr.3_Silent_p.F374F NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN Homo sapiens calsyntenin 3 (CLSTN3), mRNA. 374 homophilic cell adhesion Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 GTGACCACTTCACCCTGTCCT 0.592000 53 6 0 0 1 0 0 OGFR 11054 broad.mit.edu 37 20 61441003 61441003 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:61441003C>T uc002ydj.3 + 3 421 c.386C>T c.(385-387)tCc>tTc p.S129F OGFR_uc002ydk.3_Missense_Mutation_p.S112F|OGFR_uc002ydl.3_Missense_Mutation_p.S77F NM_007346 NP_031372 Q9NZT2 OGFR_HUMAN Homo sapiens opioid growth factor receptor (OGFR), mRNA. 129 regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) GACAATCACTCCTACATCCAG 0.612000 78 18 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39442827 39442827 + Missense_Mutation SNP C T T rs150907859 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:39442827C>T uc003xni.3 + 1 143 c.88C>T c.(88-90)Cca>Tca p.P30S ADAM18_uc003xnh.3_Missense_Mutation_p.P30S|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.P30S NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 30 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TGTCACAGTTCCACGGAAGAT 0.343000 19 4 0 0 1 0 0 BAI2 576 broad.mit.edu 37 1 32221700 32221700 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:32221700G>A uc001btn.3 - 3 1092 c.738C>T c.(736-738)acC>acT p.T246T BAI2_uc010ogp.2_Silent_p.T234T|BAI2_uc010ogq.2_Silent_p.T246T|BAI2_uc001bto.3_Silent_p.T246T|BAI2_uc001btq.1_Silent_p.T234T|BAI2_uc010ogr.1_Silent_p.T234T NM_001703 NP_001694 O60241 BAI2_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA. 246 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) CATTGGACAGGGTGTGGGCAG 0.667000 120 11 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70923464 70923464 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:70923464C>T uc021vjc.1 - 4 652 c.387G>A c.(385-387)ggG>ggA p.G129G ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Silent_p.G129G|ADD2_uc002sgz.3_Silent_p.G129G|ADD2_uc010fdt.2_Silent_p.G129G|ADD2_uc002shc.2_Silent_p.G129G|ADD2_uc010fdu.2_Silent_p.G145G NM_001185054 NP_001608 P35612 ADDB_HUMAN Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA. 129 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding F-actin capping protein complex|cytoplasm|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 TGAGCCGCTCCCCTTTGGCCA 0.592000 32 5 0 0 1 0 0 SRPX2 27286 broad.mit.edu 37 X 99917235 99917235 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:99917235G>A uc004egb.3 + 3 706 c.226G>A c.(226-228)Gga>Aga p.G76R NM_014467 NP_055282 O60687 SRPX2_HUMAN Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA. 76 Sushi 1. angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1) 19 CTCACCGAAGGGAGGAAATTA 0.507000 44 6 0 0 1 0 0 ATP2C2 9914 broad.mit.edu 37 16 84488517 84488517 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:84488517G>A uc010chj.3 + 20 2163 c.2074G>A c.(2074-2076)Ggg>Agg p.G692R ATP2C2_uc002fhx.3_Missense_Mutation_p.G692R|ATP2C2_uc002fhy.3_Missense_Mutation_p.G709R|ATP2C2_uc002fhz.3_Missense_Mutation_p.G541R NM_014861 NP_055676 O75185 AT2C2_HUMAN Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA. 692 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 GATCGCCATGGGGCAGACAGG 0.572000 50 6 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48393715 48393715 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:48393715G>A uc001rqu.3 - 1 460 c.279C>T c.(277-279)ctC>ctT p.L93L COL2A1_uc001rqv.3_Intron NM_001844 NP_001835 P02458 CO2A1_HUMAN Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA. 93 axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding p.G93A(1)|p.L93L(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) TGGCAGTGGCGAGGTCAGTTG 0.498000 73 9 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7675609 7675609 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:7675609C>T uc002mgu.4 + 8 1106 c.1005C>T c.(1003-1005)gcC>gcT p.A335A CAMSAP3_uc002mgv.4_Silent_p.A308A NM_001080429 NP_001073898 Q9P1Y5 CAMP3_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA. 308 P -> S (in dbSNP:rs3745358). epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 TGATGCTGGCCGAGTTGTTCA 0.662000 139 9 0 0 1 0 0 BMP7 655 broad.mit.edu 37 20 55758908 55758908 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:55758908G>A uc010gip.1 - 3 1357 c.828C>T c.(826-828)ttC>ttT p.F276F BMP7_uc002xyc.3_Silent_p.F276F NM_001719 NP_001710 P18075 BMP7_HUMAN Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA. 276 BMP signaling pathway|SMAD protein signal transduction|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of MAP kinase activity|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of glomerular mesangial cell proliferation|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) AAGCCACCATGAAGGGCTGCT 0.622000 46 8 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 440029 440029 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:440029G>A uc003bot.3 + 24 3856 c.3214G>A c.(3214-3216)Gat>Aat p.D1072N CHL1_uc003bou.3_Missense_Mutation_p.D1056N|CHL1_uc003bow.2_Missense_Mutation_p.D1056N|CHL1_uc011asi.2_Intron NM_006614 NP_006605 O00533 CHL1_HUMAN Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA. 1056 axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) GGGCGATAATGATAGCATTTT 0.383000 26 7 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238287632 238287632 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:238287632G>A uc002vwl.2 - 5 2429 c.2144C>T c.(2143-2145)tCg>tTg p.S715L COL6A3_uc002vwo.2_Missense_Mutation_p.S509L|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Missense_Mutation_p.S509L|COL6A3_uc002vwr.3_Missense_Mutation_p.S308L|COL6A3_uc010znk.1_Intron NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 715 Nonhelical region.|VWFA 4. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GTTCAGGCCCGAACCTCCCTG 0.537000 32 6 0 0 1 0 0 C17orf28 283987 broad.mit.edu 37 17 72958339 72958339 + Missense_Mutation SNP C T T rs141799560 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:72958339C>T uc002jmj.4 - 4 750 c.601G>A c.(601-603)Gat>Aat p.D201N C17orf28_uc010wrs.2_5'UTR|C17orf28_uc002jmk.2_Missense_Mutation_p.D200N NM_030630 NP_085133 Q8IV36 CQ028_HUMAN Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA. 201 integral to membrane|plasma membrane protein binding endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1) 17 all_lung(278;0.151)|Lung NSC(278;0.185) CGGTTCATATCGTGGATGTAG 0.647000 62 14 0 0 1 0 0 CAMKV 79012 broad.mit.edu 37 3 49897117 49897117 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:49897117G>A uc003cxt.1 - 10 1333 c.1140C>T c.(1138-1140)gcC>gcT p.A380A CAMKV_uc011bcy.1_Silent_p.A305A|CAMKV_uc003cxv.1_Silent_p.A352A|CAMKV_uc003cxw.1_Silent_p.A212A|CAMKV_uc003cxx.1_Silent_p.A212A|CAMKV_uc003cxu.2_Intron|CAMKV_uc011bcz.1_Intron|CAMKV_uc011bda.1_Intron NM_024046 NP_076951 Q8NCB2 CAMKV_HUMAN Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA. 380 Ala-rich. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GGTCTGCGGGGGCCACATTAT 0.647000 100 10 0 0 1 0 0 DAPK2 23604 broad.mit.edu 37 15 64200735 64200735 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:64200735C>T uc002amr.3 - 11 1128 c.1097G>A c.(1096-1098)aGg>aAg p.R366K DAPK2_uc010uim.2_Non-coding_Transcript NM_014326 NP_055141 Q9UIK4 DAPK2_HUMAN Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA. 366 apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 11 LUAD - Lung adenocarcinoma(2;0.215) GGTGCTGCTCCTCCTCCGTGG 0.607000 23 4 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150429861 150429861 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:150429861C>T uc009wlr.3 + 7 1169 c.968C>T c.(967-969)tCc>tTc p.S323F RPRD2_uc010pcc.1_Missense_Mutation_p.S297F|RPRD2_uc001eup.4_Missense_Mutation_p.S297F NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA. 323 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CCAGTTCCTTCCCCAAGCATG 0.463000 113 8 0 0 1 0 0 FAM196A 642938 broad.mit.edu 37 10 128974285 128974285 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:128974285C>T uc001lju.1 - 0 416 c.375G>A c.(373-375)ggG>ggA p.G125G DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Silent_p.G125G|FAM196A_uc001ljv.1_Silent_p.G125G|FAM196A_uc009yap.1_Silent_p.G125G NM_001039762 NP_001034851 Q6ZSG2 F196A_HUMAN Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA. 125 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TTTTGAGGTTCCCCTTTTTGC 0.542000 38 5 0 0 1 0 0 SLC9A9 285195 broad.mit.edu 37 3 142987748 142987748 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:142987748G>A uc003evn.3 - 14 1888 c.1679C>T c.(1678-1680)tCc>tTc p.S560F NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA. 560 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 AAGCAGCCTGGAAATCGGACC 0.483000 72 4 0 0 1 0 0 C22orf15 150248 broad.mit.edu 37 22 24106828 24106828 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:24106828G>A uc011aja.2 + 3 539 c.253G>A c.(253-255)Gga>Aga p.G85R C22orf15_uc002zxv.1_3'UTR|C22orf15_uc002zxu.3_Missense_Mutation_p.G90R NM_182520 NP_872326 Q8WYQ4 CV015_HUMAN Homo sapiens chromosome 22 open reading frame 15 (C22orf15), mRNA. 85 breast(1)|pancreas(1) 2 Medulloblastoma(6;6.27e-05)|all_neural(6;0.00518) TGTCACAGAGGGAGAGGACAT 0.572000 41 4 0 0 1 0 0 NCF4 4689 broad.mit.edu 37 22 37268428 37268428 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:37268428G>A uc003apy.4 + 6 772 c.588G>A c.(586-588)gtG>gtA p.V196V NCF4_uc003apz.4_Silent_p.V196V NM_000631 NP_000622 Q15080 NCF4_HUMAN Homo sapiens neutrophil cytosolic factor 4, 40kDa (NCF4), transcript variant 1, mRNA. 196 SH3. cell communication|immune response|oxidation-reduction process NADPH oxidase complex|cytosol phosphatidylinositol binding|protein dimerization activity cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 CTGGAGATGTGATCTTCCTCC 0.473000 83 20 0 0 1 0 0 RHBG 57127 broad.mit.edu 37 1 156348107 156348107 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:156348107C>T uc010pho.2 + 3 628 c.590C>T c.(589-591)tCg>tTg p.S197L RHBG_uc010phm.1_Intron|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Missense_Mutation_p.S128L|RHBG_uc009wrz.3_Missense_Mutation_p.S165L|RHBG_uc001for.3_Missense_Mutation_p.S167L NM_020407 NP_065140 Q9H310 RHBG_HUMAN Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA. 197 transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding p.S197S(1) endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) CTCGTCCTTTCGCGGGTTCTG 0.627000 133 6 0 0 1 0 0 TMEM41B 440026 broad.mit.edu 37 11 9308057 9308057 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:9308057G>A uc001mhm.3 - 5 978 c.651C>T c.(649-651)atC>atT p.I217I TMEM41B_uc001mhn.2_Silent_p.I217I NM_015012 NP_055827 Q5BJD5 TM41B_HUMAN Homo sapiens transmembrane protein 41B (TMEM41B), transcript variant 1, mRNA. 217 integral to membrane kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2) 7 all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972) CAGGAGATGTGATATTAATAA 0.338000 106 11 0 0 1 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806084 97806084 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:97806084C>T uc011bgs.2 + 0 68 c.68C>T c.(67-69)cCa>cTa p.P23L NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA. 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R22*(1) endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 ACAGATCGACCATGGCTGCAC 0.423000 70 11 0 0 1 0 0 ANAPC4 29945 broad.mit.edu 37 4 25379079 25379079 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:25379079C>T uc003gro.3 + 1 159 c.30C>T c.(28-30)tcC>tcT p.S10S NM_013367 NP_037499 Q9UJX5 APC4_HUMAN Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA. 10 G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) GTTTCCCATCCTTCCGGGTGG 0.632000 36 5 0 0 1 0 0 NDOR1 27158 broad.mit.edu 37 9 140108292 140108292 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:140108292C>T uc004clx.3 + 3 483 c.372C>T c.(370-372)ctC>ctT p.L124L NDOR1_uc004clw.3_Silent_p.L124L|NDOR1_uc011mes.2_Silent_p.L124L|NDOR1_uc004cly.3_Silent_p.L124L NM_001144026 NP_001137498 Q9UHB4 NDOR1_HUMAN Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA. 124 Flavodoxin-like. cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GCAGCGCCCTCCTGCCCGTGT 0.677000 26 5 0 0 1 0 0 SEMA3C 10512 broad.mit.edu 37 7 80374244 80374244 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:80374244C>T uc011kgw.2 - 17 2355 c.2276G>A c.(2275-2277)aGt>aAt p.S759N SEMA3C_uc003uhj.3_Missense_Mutation_p.S741N NM_006379 NP_006370 Q99985 SEM3C_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA. 741 immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 CCTGTTTCTACTTTTCCGACT 0.403000 20 3 0 0 1 0 0 TRPM5 29850 broad.mit.edu 37 11 2434411 2434411 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:2434411C>T uc010qxl.2 - 13 2058 c.2049G>A c.(2047-2049)ctG>ctA p.L683L TRPM5_uc001lwm.4_Silent_p.L683L|TRPM5_uc009ydn.3_Silent_p.L685L NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA. 683 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CCAGGCTGTCCAGGTCCTGCA 0.701000 76 5 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413501 105413501 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:105413501G>A uc010axc.1 - 6 8407 c.8287C>T c.(8287-8289)Ccc>Tcc p.P2763S AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P2663S NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 2763 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCCGCCTTGGGGCCTTTCAGG 0.607000 157 34 0 0 1 0 0 LRIT3 345193 broad.mit.edu 37 4 110791708 110791708 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:110791708C>T uc003hzx.4 + 2 1861 c.1668C>T c.(1666-1668)ttC>ttT p.F556F LRIT3_uc003hzw.4_Silent_p.F418F NM_198506 NP_940908 Q3SXY7 LRIT3_HUMAN Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA. 556 integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) TGATTTGTTTCTTGTTGTACA 0.393000 39 6 0 0 1 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47251796 47251796 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:47251796G>A uc003oyv.3 - 2 1554 c.1121C>T c.(1120-1122)tCg>tTg p.S374L NM_014452 NP_055267 O75509 TNR21_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA. 374 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) CAGAGTCCTCGAGCTTTTCCG 0.517000 66 11 0 0 1 0 0 FAM189B 10712 broad.mit.edu 37 1 155220458 155220458 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:155220458G>A uc001fjm.3 - 8 1725 c.1119C>T c.(1117-1119)ggC>ggT p.G373G FAM189B_uc009wql.3_Silent_p.G175G|FAM189B_uc001fjn.3_Silent_p.G277G|FAM189B_uc001fjo.3_Silent_p.G355G|FAM189B_uc001fjp.3_Intron NM_006589 NP_006580 P81408 F189B_HUMAN Homo sapiens family with sequence similarity 189, member B (FAM189B), transcript variant 1, mRNA. 373 integral to membrane WW domain binding breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 TGAGGCAGTAGCCGGCACGGC 0.701000 43 4 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123298130 123298130 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:123298130G>A uc021pzz.1 - 5 1371 c.724C>T c.(724-726)Cac>Tac p.H242Y FGFR2_uc021pzv.1_Missense_Mutation_p.H242Y|FGFR2_uc021pzw.1_Missense_Mutation_p.H127Y|FGFR2_uc021pzx.1_Missense_Mutation_p.H153Y|FGFR2_uc021pzy.1_Missense_Mutation_p.H242Y|FGFR2_uc010qtl.2_Missense_Mutation_p.H242Y|FGFR2_uc010qtm.2_Missense_Mutation_p.H127Y|FGFR2_uc021qaa.1_Missense_Mutation_p.H242Y|FGFR2_uc021qab.1_Missense_Mutation_p.H153Y|FGFR2_uc021qac.1_Missense_Mutation_p.H172Y|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.H261Y|FGFR2_uc010qto.2_Missense_Mutation_p.H146Y|FGFR2_uc001lfo.1_Missense_Mutation_p.H261Y|FGFR2_uc010qtp.2_Missense_Mutation_p.H261Y|FGFR2_uc010qtq.2_Missense_Mutation_p.H261Y NM_000141 NP_000132 P21802 FGFR2_HUMAN Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA. 242 Ig-like C2-type 2. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TGGTACGTGTGATTGATGGAC 0.493000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 18 4 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15709696 15709696 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:15709696G>A uc002ddr.3 - 15 3451 c.3244C>T c.(3244-3246)Ccc>Tcc p.P1082S KIAA0430_uc002ddq.3_Missense_Mutation_p.P916S|KIAA0430_uc010uzv.2_Missense_Mutation_p.P1079S|KIAA0430_uc010uzw.2_Missense_Mutation_p.P1082S NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA. 1081 peroxisome RNA binding|nucleotide binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 CCAGTGTTGGGAGGCGGGGGC 0.463000 76 8 0 0 1 0 0 KIAA0754 643314 broad.mit.edu 37 1 39876768 39876768 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:39876768C>T uc009vvt.1 + 0 1593 c.831C>T c.(829-831)ccC>ccT p.P277P MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN Homo sapiens KIAA0754 (KIAA0754), mRNA. 141 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGCAGCACCCCCTTGGGGACA 0.522000 OREG0013393 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 4 0 0 1 0 0 AGBL4 84871 broad.mit.edu 37 1 49119053 49119053 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:49119053G>A uc010omx.1 - 7 989 c.831C>T c.(829-831)atC>atT p.I277I AGBL4_uc001cru.2_Silent_p.I265I|AGBL4_uc010omw.1_5'UTR|AGBL4_uc010omy.1_Silent_p.I88I|AGBL4_uc001crv.1_Silent_p.I118I NM_032785 NP_116174 Q5VU57 CBPC6_HUMAN Homo sapiens ATP/GTP binding protein-like 4 (AGBL4), mRNA. 265 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding p.I265I(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 15 Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037) GCATTGGTGCGATCTTGAAGA 0.473000 4 3 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49168416 49168416 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:49168416G>A uc003cwe.3 - 6 1181 c.882C>T c.(880-882)ccC>ccT p.P294P LAMB2_uc003cwf.1_Silent_p.P294P NM_002292 NP_002283 P55268 LAMB2_HUMAN Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA. 294 Laminin EGF-like 1. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity p.P294P(2) NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCCCTGGGGCGGGTGCACACT 0.612000 79 4 0 0 1 0 0 FIBIN 387758 broad.mit.edu 37 11 27016166 27016166 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:27016166G>A uc001mrd.3 + 0 539 c.93G>A c.(91-93)ggG>ggA p.G31G NM_203371 NP_976249 Q8TAL6 FIBIN_HUMAN Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA. 31 Golgi apparatus|extracellular region p.G31G(2) breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 TGTCCAATGGGACTCTGCACC 0.542000 41 7 0 0 1 0 0 ZP3 7784 broad.mit.edu 37 7 76054470 76054470 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:76054470G>A uc003ufd.4 + 0 199 c.189G>A c.(187-189)ggG>ggA p.G63G ZP3_uc003ufc.4_Silent_p.G12G NM_001110354 NP_009086 P21754 ZP3_HUMAN Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA. 63 ZP. binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of T cell proliferation|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade Golgi apparatus|endoplasmic reticulum|extracellular space|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 TTGGCACCGGGAAGCTCATCA 0.587000 23 4 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65263298 65263298 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:65263298C>T uc001xht.3 - 9 1369 c.1318G>A c.(1318-1320)Gaa>Aaa p.E440K SPTB_uc001xhr.3_Missense_Mutation_p.E440K|SPTB_uc001xhs.3_Missense_Mutation_p.E440K|SPTB_uc001xhu.3_Missense_Mutation_p.E440K NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 440 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CGCTGGTTTTCACTGAGCCAG 0.602000 58 7 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21239331 21239331 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:21239331G>A uc002red.3 - 20 3440 c.3312C>T c.(3310-3312)gtC>gtT p.V1104V NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1104 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCATGAGGGCGACCTCAGTAA 0.478000 304 21 0 0 1 0 0 FARSA 2193 broad.mit.edu 37 19 13039215 13039215 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:13039215G>A uc002mvs.2 - 6 830 c.782C>T c.(781-783)gCc>gTc p.A261V FARSA_uc010xmv.1_Missense_Mutation_p.A230V NM_004461 NP_004452 Q9Y285 SYFA_HUMAN Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA. 261 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 20 L-Phenylalanine(DB00120) CTGGAAGAGGGCGTCAAAGTT 0.597000 88 21 0 0 1 0 0 PASK 23178 broad.mit.edu 37 2 242082329 242082329 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:242082329G>A uc002wao.2 - 1 252 c.119C>T c.(118-120)tCg>tTg p.S40L PASK_uc010zol.2_5'UTR|PASK_uc010zom.2_Missense_Mutation_p.S40L|PASK_uc010fzl.2_Missense_Mutation_p.S40L|PASK_uc010zon.2_Intron|PASK_uc021vzf.1_Missense_Mutation_p.S40L|PASK_uc002waq.3_Missense_Mutation_p.S40L NM_015148 NP_055963 Q96RG2 PASK_HUMAN Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA. 40 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) TGAGGAAAACGACCTGCTGGG 0.587000 44 10 0 0 1 0 0 DCDC5 100506627 broad.mit.edu 37 11 30974044 30974044 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:30974044C>T uc009yjk.1 - 8 1076 c.1007G>A c.(1006-1008)tGg>tAg p.W336* DCDC5_uc021qfk.1_5'UTR|DCDC5_uc009yjl.1_Intron|DCDC5_uc001msu.2_Nonsense_Mutation_p.W507* NM_020869 NP_065920 Q6ZRR9 DCDC5_HUMAN Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA. 0 intracellular signal transduction NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1) 31 AAGCTTGTTCCATAGAGGATT 0.408000 12 4 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11452352 11452352 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:11452352G>A uc021zzo.1 - 17 3865 c.3613C>T c.(3613-3615)Cct>Tct p.P1205S THSD7A_uc021zzn.1_Missense_Mutation_p.P1203S NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA. 1205 TSP type-1 11. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ACAGCATTAGGGCAAGATCTT 0.413000 HNSCC(18;0.044) 17 3 0 0 1 0 0 RGL1 23179 broad.mit.edu 37 1 183885675 183885675 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:183885675C>T uc001gqm.3 + 16 2410 c.1949C>T c.(1948-1950)cCg>cTg p.P650L RGL1_uc010pog.2_Missense_Mutation_p.P613L|RGL1_uc010poh.2_Missense_Mutation_p.P613L|RGL1_uc001gqo.3_Missense_Mutation_p.P615L|RGL1_uc010poi.2_Missense_Mutation_p.P586L NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA. 615 Ras-associating. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ral guanyl-nucleotide exchange factor activity|protein binding p.P650P(1) breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 TCCTCCCCTCCGTCCTGCAAC 0.507000 48 4 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20544117 20544117 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:20544117G>A uc003gpr.1 + 21 2348 c.2144_splice c.e21-1 p.G715_splice SLIT2_uc003gps.1_Splice_Site_p.G707_splice NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 715 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TGCGATTTAGGAAATGATGAC 0.408000 55 5 0 0 1 0 0 FAM190A 401145 broad.mit.edu 37 4 91230397 91230397 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:91230397C>T uc003hsv.4 + 1 1302 c.962C>T c.(961-963)cCt>cTt p.P321L FAM190A_uc003hsu.3_Missense_Mutation_p.P321L|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.P321L NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA. 321 NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 ATTATGTCTCCTGGGAAATAT 0.418000 22 7 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40657350 40657350 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:40657350C>T uc001zlk.1 + 5 811 c.722C>T c.(721-723)tCg>tTg p.S241L NM_033510 NP_277045 A7MBM2 DISP2_HUMAN Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA. 241 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CACTTCAGCTCGAGCTCCCAC 0.612000 104 7 0 0 1 0 0 KCNH8 131096 broad.mit.edu 37 3 19295239 19295239 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:19295239G>A uc003cbk.1 + 1 365 c.170G>A c.(169-171)cGa>cAa p.R57Q KCNH8_uc011awe.1_Missense_Mutation_p.R57Q|KCNH8_uc010hex.1_5'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA. 57 PAS. integral to membrane two-component sensor activity p.R57Q(2)|p.R57*(1)|p.R57R(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 GGATTTGCCCGAACTGAAGTC 0.458000 29 4 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237730007 237730007 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:237730007C>T uc001hyl.1 + 27 3475 c.3355C>T c.(3355-3357)Cgt>Tgt p.R1119C NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 1119 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.P1118H(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGGTTGGAGTCGTCCTGGTTG 0.532000 109 7 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110510796 110510796 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:110510796C>T uc003yne.3 + 65 10809 c.10705C>T c.(10705-10707)Cca>Tca p.P3569S NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 3569 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCCTAGATCTCCATCAGGTGA 0.353000 HNSCC(38;0.096) 39 7 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67776851 67776851 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:67776851G>A uc002lkp.2 - 27 3854 c.3786C>T c.(3784-3786)tcC>tcT p.S1262S RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Silent_p.S350S NM_173630 NP_775901 Q86VV8 RTTN_HUMAN Homo sapiens rotatin (RTTN), mRNA. 1262 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) TCCGCTCAAGGGACGGCAGGC 0.512000 43 8 0 0 1 0 0 ALDH4A1 8659 broad.mit.edu 37 1 19213005 19213005 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:19213005G>A uc001bbb.3 - 4 526 c.250_splice c.e4-1 p.P84_splice ALDH4A1_uc010ocu.2_Splice_Site_p.P24_splice|ALDH4A1_uc001bbc.3_Splice_Site_p.P84_splice|ALDH4A1_uc021ohl.1_Splice_Site_p.P84_splice NM_170726 NP_001154976 P30038 AL4A1_HUMAN Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA. 84 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) TGGTTAAAAGGCTGAAAGGAG 0.557000 41 9 0 0 1 0 0 PRPF4B 8899 broad.mit.edu 37 6 4032372 4032372 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:4032372C>T uc003mvv.3 + 1 712 c.621C>T c.(619-621)atC>atT p.I207I PRPF4B_uc011dhv.1_Non-coding_Transcript NM_003913 NP_003904 Q13523 PRP4B_HUMAN Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA. 207 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) GTATTGAAATCGTTAAAGAGA 0.348000 85 10 0 0 1 0 0 SDF4 51150 broad.mit.edu 37 1 1153970 1153970 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:1153970G>A uc001adh.4 - 5 1109 c.780C>T c.(778-780)tcC>tcT p.S260S SDF4_uc001adg.3_Non-coding_Transcript|SDF4_uc001adi.4_Silent_p.S260S|SDF4_uc009vjw.3_Non-coding_Transcript NM_016176 NP_057260 Q9BRK5 CAB45_HUMAN Homo sapiens stromal cell derived factor 4 (SDF4), transcript variant 2, mRNA. 260 EF-hand 4. UV protection|cerebellum development|fat cell differentiation|response to ethanol|zymogen granule exocytosis Golgi lumen|bleb|late endosome|soluble fraction calcium ion binding|identical protein binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) CCACGGGCAGGGAGATGAACT 0.607000 68 8 0 0 1 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30683449 30683449 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:30683449G>A uc003ahi.3 - 7 921 c.804C>T c.(802-804)acC>acT p.T268T TBC1D10A_uc003ahd.3_Silent_p.T95T|TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Non-coding_Transcript|TBC1D10A_uc003ahh.3_Non-coding_Transcript|TBC1D10A_uc010gvq.3_Non-coding_Transcript|TBC1D10A_uc010gvr.3_5'UTR|TBC1D10A_uc010gvs.2_5'UTR NM_031937 NP_114143 Q9BXI6 TB10A_HUMAN Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 2, mRNA. 0 Rab-GAP TBC. intracellular|microvillus PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 GGGCGATCTTGGTGACCCCAG 0.612000 OREG0026457 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 64 4 0 0 1 0 0 LRIT1 26103 broad.mit.edu 37 10 85997355 85997356 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:85997355_85997356GG>AA uc001kcz.1 - 1 231_232 c.209_210CC>TT c.(208-210)gcc>gTT p.A70V NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA. 70 integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 CCCTGCGTATGGCCGTCCGCTC 0.673000 81 6 0 0 1 0 0 CRTC3 64784 broad.mit.edu 37 15 91147627 91147627 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:91147627C>T uc002bpp.3 + 4 530 c.424C>T c.(424-426)Cct>Tct p.P142S CRTC3_uc002bpo.3_Missense_Mutation_p.P142S NM_022769 NP_073606 Q6UUV7 CRTC3_HUMAN Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA. 142 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) GCAGCAGCCTCCTTGGAAAGA 0.438000 T MAML2 salivary gland mucoepidermoid 66 5 0 0 1 0 0 EFCAB3 146779 broad.mit.edu 37 17 60493519 60493519 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:60493519G>A uc010wpc.2 + 11 1373 c.1302G>A c.(1300-1302)tgG>tgA p.W434* EFCAB3_uc002izu.2_Nonsense_Mutation_p.W382* NM_001144933 NP_001138405 Q8N7B9 EFCB3_HUMAN Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA. 382 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) CATGGTCCTGGAATGTTTGCC 0.408000 70 4 0 0 1 0 0 MEP1A 4224 broad.mit.edu 37 6 46800960 46800960 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:46800960C>T uc011dwh.1 + 9 1386 c.1378C>T c.(1378-1380)Ccc>Tcc p.P460S MEP1A_uc010jzh.1_Missense_Mutation_p.P432S|MEP1A_uc011dwg.1_Missense_Mutation_p.P154S|MEP1A_uc011dwi.1_Missense_Mutation_p.P332S NM_005588 NP_005579 Q16819 MEP1A_HUMAN Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA. 432 MATH. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) AACCCCCTGCCCCACAGGGGT 0.517000 52 4 0 0 1 0 0 NANOS2 339345 broad.mit.edu 37 19 46417599 46417599 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:46417599C>T uc002pdu.3 - 0 438 c.353G>A c.(352-354)gGt>gAt p.G118D NM_001029861 NP_001025032 P60321 NANO2_HUMAN Homo sapiens nanos homolog 2 (Drosophila) (NANOS2), mRNA. 118 germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|perinuclear region of cytoplasm RNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2) 6 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231) CTGCTGGCCACCGTTAAGCGG 0.672000 34 4 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165560956 165560956 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:165560956G>A uc002ucp.3 - 7 1445 c.1223C>T c.(1222-1224)cCa>cTa p.P408L COBLL1_uc002ucq.3_Missense_Mutation_p.P408L|COBLL1_uc010zcw.2_Missense_Mutation_p.P474L|COBLL1_uc010zcx.2_Missense_Mutation_p.P454L|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Missense_Mutation_p.P177L NM_014900 NP_055715 Q53SF7 COBL1_HUMAN Homo sapiens COBL-like 1 (COBLL1), mRNA. 446 p.P408T(1) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 TGTCATACCTGGGCTGGATAG 0.423000 57 11 0 0 1 0 0 CLCN6 1185 broad.mit.edu 37 1 11887244 11887244 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:11887244C>T uc001ate.4 + 9 919 c.806C>T c.(805-807)tCg>tTg p.S269L CLCN6_uc009vnf.1_Silent_p.F272F|CLCN6_uc009vng.1_Silent_p.F260F|CLCN6_uc009vnh.1_Missense_Mutation_p.S269L|CLCN6_uc010oat.2_5'UTR|CLCN6_uc010oau.2_Missense_Mutation_p.S247L NM_001286 NP_001277 P51797 CLCN6_HUMAN Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA. 269 cell volume homeostasis|signal transduction endosome membrane|integral to membrane ATP binding|antiporter activity|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GAGGAGGGTTCGTCCTTCTGG 0.552000 63 4 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17607200 17607200 + Missense_Mutation SNP G A A rs138012325 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:17607200G>A uc001bai.3 + 14 1710 c.1670G>A c.(1669-1671)cGg>cAg p.R557Q NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA. 557 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GTGCTGAAGCGGGAGCTGGGC 0.592000 76 22 0 0 1 0 0 SIRT6 51548 broad.mit.edu 37 19 4180894 4180894 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:4180894G>A uc002lzo.3 - 1 139 c.79C>T c.(79-81)Ccg>Tcg p.P27S ANKRD24_uc010dtt.1_5'Flank|SIRT6_uc002lzq.3_Missense_Mutation_p.P27S|SIRT6_uc002lzp.3_Missense_Mutation_p.P27S|SIRT6_uc010xid.2_Intron|SIRT6_uc002lzr.3_Intron NM_016539 NP_057623 Q8N6T7 SIRT6_HUMAN Homo sapiens sirtuin 6 (SIRT6), transcript variant 1, mRNA. 27 chromatin silencing|protein ADP-ribosylation nuclear telomeric heterochromatin|nucleoplasm NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18) AGCTCCTCCGGGGGGTCGAAG 0.637000 37 4 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50140003 50140003 + Silent SNP G A A rs6096459 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:50140003G>A uc002xwd.3 - 1 997 c.777C>T c.(775-777)gcC>gcT p.A259A NFATC2_uc002xwc.3_Silent_p.A259A|NFATC2_uc010zyv.2_Silent_p.A40A|NFATC2_uc010zyw.2_Silent_p.A40A|NFATC2_uc002xwe.3_Silent_p.A239A|NFATC2_uc010zyx.2_Silent_p.A239A|NFATC2_uc010zyy.2_Silent_p.A40A|NFATC2_uc010zyz.2_Silent_p.A40A NM_173091 NP_775114 Q13469 NFAC2_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA. 259 3 X approximate SP repeats. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GGGCAACCAAGGCCTCGGCGC 0.751000 45 8 0 0 1 0 0 SELE 6401 broad.mit.edu 37 1 169699608 169699608 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:169699608G>A uc001ggm.4 - 4 837 c.680C>T c.(679-681)tCt>tTt p.S227F C1orf112_uc001ggj.3_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN Homo sapiens selectin E (SELE), mRNA. 227 Sushi 1. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) CCATTCTCCAGAGGACATACA 0.473000 29 8 0 0 1 0 0 XPNPEP1 7511 broad.mit.edu 37 10 111631566 111631567 + Missense_Mutation DNP GA AT AT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:111631566_111631567GA>AT uc001kyp.2 - 16 1625_1626 c.1505_1506TC>AT c.(1504-1506)ttc>tAT p.F502Y XPNPEP1_uc009xxt.2_Missense_Mutation_p.F478Y|XPNPEP1_uc001kyq.2_Missense_Mutation_p.F388Y NM_020383 NP_065116 Q9NQW7 XPP1_HUMAN Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA. 459 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity p.C502C(2) endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1) 31 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) TTCCAGTCGGGAAAACGGCTGC 0.460000 85 5 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3683932 3683932 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:3683932G>A uc002wja.3 - 4 1140 c.1140C>T c.(1138-1140)gcC>gcT p.A380A SIGLEC1_uc002wiz.4_Silent_p.A380A|SIGLEC1_uc002wjc.3_Silent_p.A291A NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 380 Ig-like C2-type 3. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CAGCCCTAGTGGCCAAGTGCA 0.592000 48 4 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56379215 56379215 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:56379215G>A uc002qmd.4 + 5 2749 c.2327G>A c.(2326-2328)aGc>aAc p.S776N NLRP4_uc002qmf.3_Missense_Mutation_p.S701N|NLRP4_uc010etf.3_Intron NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 776 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GCCCTGTGCAGCCCAGACACG 0.537000 44 9 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161116303 161116303 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:161116303C>T uc003lyu.2 + 4 828 c.490C>T c.(490-492)Cct>Tct p.P164S GABRA6_uc003lyv.2_5'Flank NM_000811 NP_000802 Q16445 GBRA6_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA. 164 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GGTTAACTTTCCTATGGATGG 0.388000 TCGA Ovarian(5;0.080) 56 6 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52395698 52395698 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:52395698C>T uc011bef.2 + 29 5157 c.4896C>T c.(4894-4896)ttC>ttT p.F1632F NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 1632 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GGGCCTGCTTCGACGAGTTCA 0.642000 5 3 0 0 1 0 0 ZNF530 348327 broad.mit.edu 37 19 58117551 58117551 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:58117551T>G uc002qpk.2 + 2 878 c.658T>G c.(658-660)Ttt>Gtt p.F220V ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_5'Flank NM_020880 NP_065931 Q6P9A1 ZN530_HUMAN Homo sapiens zinc finger protein 530 (ZNF530), mRNA. 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CAGGAAATCTTTTAGAGAGAA 0.443000 51 5 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109804458 109804458 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:109804458C>T uc001dxa.4 + 4 4387 c.4326C>T c.(4324-4326)ttC>ttT p.F1442F NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA. 1442 Laminin G-like 1. Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TGTCCCCATTCGTGCCCGGAG 0.592000 168 31 0 0 1 0 0 HYAL4 23553 broad.mit.edu 37 7 123508466 123508466 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:123508466C>T uc003vlc.3 + 2 777 c.139C>T c.(139-141)Cct>Tct p.P47S HYAL4_uc011knz.2_Missense_Mutation_p.P47S NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA. 47 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity p.P47L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 TCAAAGGAAACCTTTTATAGC 0.348000 37 5 0 0 1 0 0 METTL7B 196410 broad.mit.edu 37 12 56077729 56077729 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:56077729G>A uc010spr.2 + 1 840 c.631G>A c.(631-633)Gat>Aat p.D211N NM_152637 NP_689850 Q6UX53 MET7B_HUMAN Homo sapiens methyltransferase like 7B (METTL7B), mRNA. 211 methyltransferase activity kidney(1)|large_intestine(1)|lung(4) 6 GACCTGGAAGGATCTTGAGAA 0.547000 62 4 0 0 1 0 0 ZNF557 79230 broad.mit.edu 37 19 7075675 7075675 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:7075675C>T uc002mga.3 + 3 526 c.41C>T c.(40-42)tCc>tTc p.S14F ZNF557_uc002mgb.3_Intron|ZNF557_uc002mgc.3_Missense_Mutation_p.S14F NM_024341 NP_077317 Q8N988 ZN557_HUMAN Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA. 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 Lung(535;0.179) GCTCTGTCTTCCCTGTTCCCA 0.552000 42 12 0 0 1 0 0 ZNF778 197320 broad.mit.edu 37 16 89293954 89293954 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:89293954C>T uc021tms.1 + 6 1597 c.1258C>T c.(1258-1260)Ccc>Tcc p.P420S ZNF778_uc010vpg.2_Missense_Mutation_p.P155S|ZNF778_uc002fmv.3_Missense_Mutation_p.P392S|ZNF778_uc002fmw.2_Missense_Mutation_p.P350S NM_001201407 NP_001188336 Q96MU6 ZN778_HUMAN Homo sapiens zinc finger protein 778 (ZNF778), transcript variant 1, mRNA. 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(80;0.0269) TGGAATAAAACCCTATACATG 0.463000 52 4 0 0 1 0 0 FNBP1 23048 broad.mit.edu 37 9 132671209 132671209 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:132671209C>T uc004byw.1 - 11 1474 c.1255G>A c.(1255-1257)Gat>Aat p.D419N FNBP1_uc011mbv.1_Missense_Mutation_p.D409N|FNBP1_uc011mbw.1_Missense_Mutation_p.D414N|FNBP1_uc004bza.2_Missense_Mutation_p.D353N|FNBP1_uc004byz.1_Missense_Mutation_p.D390N|FNBP1_uc011mbu.1_Missense_Mutation_p.D47N|FNBP1_uc004byx.1_Missense_Mutation_p.D335N|FNBP1_uc004byy.1_Missense_Mutation_p.D325N NM_015033 NP_055848 Q96RU3 FNBP1_HUMAN Homo sapiens formin binding protein 1 (FNBP1), mRNA. 419 Interaction with RND2 (By similarity).|Required for self-association and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) TTTAACTCATCGACTTTCTGC 0.423000 T MLL AML 14 3 0 0 1 0 0 MEOX2 4223 broad.mit.edu 37 7 15652155 15652155 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:15652155C>T uc003stc.3 - 2 1053 c.772G>A c.(772-774)Gaa>Aaa p.E258K NM_005924 NP_005915 P50222 MEOX2_HUMAN Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA. 258 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) TTCACCAGTTCCTTTTCCCGA 0.507000 67 5 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71894588 71894588 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:71894588C>T uc010fen.3 + 47 5541 c.5400C>T c.(5398-5400)gtC>gtT p.V1800V DYSF_uc010fei.3_Silent_p.V1778V|DYSF_uc010feh.3_Silent_p.V1768V|DYSF_uc002sig.4_Silent_p.V1747V|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.V1792V|DYSF_uc010fee.3_Silent_p.V1782V|DYSF_uc010fef.3_Silent_p.V1799V|DYSF_uc002sie.3_Silent_p.V1761V|DYSF_uc010feo.3_Silent_p.V1793V|DYSF_uc010fej.3_Silent_p.V1769V|DYSF_uc010fel.3_Silent_p.V1748V|DYSF_uc010fem.3_Silent_p.V1783V|DYSF_uc002sif.3_Silent_p.V1762V|DYSF_uc010fek.3_Silent_p.V1779V|DYSF_uc010yqy.2_Silent_p.V642V|DYSF_uc010yqz.2_Silent_p.V522V NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 1761 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 AGGGCCTGGTCCCGGAGCACG 0.642000 69 10 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1616172 1616172 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:1616172C>T uc002wfm.1 - 3 887 c.822G>A c.(820-822)agG>agA p.R274R SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA. 274 Ig-like C1-type 2. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 GGTAGAACTTCCTCACCTGGC 0.547000 91 11 0 0 1 0 0 LOC392232 392232 broad.mit.edu 37 8 73163731 73163731 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:73163731C>T uc022avu.1 - 0 c.139G>A Homo sapiens transient receptor potential cation channel, subfamily A, member 1 pseudogene (LOC392232), non-coding RNA. TCCCGCACATCCTCATAGACA 0.642000 69 7 0 0 1 0 0 DMRT2 10655 broad.mit.edu 37 9 1056845 1056845 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:1056845C>T uc003zha.3 + 3 1458 c.1258C>T c.(1258-1260)Cat>Tat p.H420Y DMRT2_uc003zhb.4_3'UTR|DMRT2_uc003zgy.4_Missense_Mutation_p.H264Y|DMRT2_uc011llt.2_3'UTR|DMRT2_uc022bcw.1_3'UTR|DMRT2_uc011llv.2_Missense_Mutation_p.H420Y NM_181872 NP_870987 Q9Y5R5 DMRT2_HUMAN Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA. 420 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(1)|prostate(2) 4 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) CCTTCAGGGTCATCAGGCTGT 0.562000 70 8 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3224648 3224648 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:3224648C>T uc022aqr.1 - 19 3411 c.3021G>A c.(3019-3021)acG>acA p.T1007T CSMD1_uc011kwj.2_Silent_p.T400T|CSMD1_uc003wqe.3_Silent_p.T164T NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1008 CUB 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTGCCTTGATCGTATGAGGCA 0.478000 8 4 0 0 1 0 0 IL4I1 259307 broad.mit.edu 37 19 50399229 50399229 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:50399229G>A uc002pqv.2 - 5 951 c.122C>T c.(121-123)cCc>cTc p.P41L IL4I1_uc002pqt.1_Missense_Mutation_p.P32L|IL4I1_uc021uxy.1_Missense_Mutation_p.P54L|IL4I1_uc002pqu.2_Missense_Mutation_p.P54L|IL4I1_uc010eno.2_Missense_Mutation_p.P40L NM_152899 NP_690863 Q96RQ9 OXLA_HUMAN Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA. 32 lysosome L-amino-acid oxidase activity endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) TTTCTCGAAGGGGTCTTGGCT 0.617000 57 6 0 0 1 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134459920 134459920 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:134459920G>A uc022bos.1 - 19 2952 c.2793C>T c.(2791-2793)ttC>ttT p.F931F RAPGEF1_uc022bot.1_Silent_p.F913F NM_198679 NP_941372 Q13905 RPGF1_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA. 913 Ras-GEF. activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome SH3 domain binding|guanyl-nucleotide exchange factor activity NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) TGATCTTGATGAACTTCAAGA 0.567000 92 14 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51264798 51264798 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:51264798G>A uc011bds.2 + 15 1485 c.1462G>A c.(1462-1464)Gga>Aga p.G488R NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. 488 DHR-1. cytoplasm GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TCCTCGCTGGGGAGAAATTAT 0.502000 63 15 0 0 1 0 0 LIPG 9388 broad.mit.edu 37 18 47113180 47113180 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:47113180C>T uc002ldv.3 + 8 1693 c.1441C>T c.(1441-1443)Cgc>Tgc p.R481C LIPG_uc010xdh.2_Missense_Mutation_p.R407C NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN Homo sapiens lipase, endothelial (LIPG), mRNA. 481 PLAT. cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 GCTCTGGTTTCGCAAGTGTCG 0.507000 46 12 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124257473 124257473 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:124257473C>T uc001uft.4 + 3 331 c.306C>T c.(304-306)ttC>ttT p.F102F NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 102 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGGTGTTTTTCCTCAGAAATA 0.468000 88 8 0 0 1 0 0 ITPRIP 85450 broad.mit.edu 37 10 106075107 106075107 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:106075107G>A uc001kyf.3 - 2 1156 c.703C>T c.(703-705)Ctg>Ttg p.L235L ITPRIP_uc001kye.3_Silent_p.L235L|ITPRIP_uc001kyg.3_Silent_p.L235L|ITPRIP_uc021pxv.1_Silent_p.L235L NM_033397 NP_203755 Q8IWB1 IPRI_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA. 235 plasma membrane p.L235L(1) breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 TGGCGATCCAGGGGCACTGAG 0.652000 59 7 0 0 1 0 0 MRPL55 128308 broad.mit.edu 37 1 228295508 228295508 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:228295508G>A uc001hrz.4 - 4 486 c.197C>T c.(196-198)tCc>tTc p.S66F MRPL55_uc001hsg.4_Missense_Mutation_p.S30F|MRPL55_uc009xex.3_Missense_Mutation_p.S30F|MRPL55_uc001hsa.4_Missense_Mutation_p.S30F|MRPL55_uc001hsb.4_Missense_Mutation_p.S30F|MRPL55_uc001hsc.4_Missense_Mutation_p.S30F|MRPL55_uc001hsd.4_Missense_Mutation_p.S30F|MRPL55_uc001hse.4_Missense_Mutation_p.S30F|MRPL55_uc001hsf.4_Missense_Mutation_p.S30F NM_181462 NP_852127 Q7Z7F7 RM55_HUMAN Homo sapiens mitochondrial ribosomal protein L55 (MRPL55), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA. 30 translation mitochondrial large ribosomal subunit structural constituent of ribosome central_nervous_system(1)|lung(4) 5 Prostate(94;0.0405) AGCTCGCCAGGAGGATGTGTG 0.632000 64 4 0 0 1 0 0 CAPRIN1 4076 broad.mit.edu 37 11 34104504 34104504 + Nonsense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:34104504T>G uc001mvh.1 + 8 1071 c.882T>G c.(880-882)taT>taG p.Y294* CAPRIN1_uc001mvg.3_Nonsense_Mutation_p.Y294*|CAPRIN1_uc001mvi.2_Nonsense_Mutation_p.Y294*|CAPRIN1_uc001mvj.1_Nonsense_Mutation_p.Y213* NM_005898 NP_005889 Q14444 CAPR1_HUMAN Homo sapiens cell cycle associated protein 1 (CAPRIN1), transcript variant 1, mRNA. 294 negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule RNA binding|protein binding breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 18 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) CTTTGCAGTATGTAAATAGAC 0.383000 33 6 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6145998 6145998 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:6145998G>A uc003mwv.3 - 14 2176 c.2053C>T c.(2053-2055)Cgg>Tgg p.R685W F13A1_uc011dib.2_Intron NM_000129 NP_000120 P00488 F13A_HUMAN Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. 685 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GAGTTGGGCCGGATTTCACTG 0.517000 20 4 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43383710 43383710 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:43383710G>A uc002ovd.1 - 0 162 c.24C>T c.(22-24)ccC>ccT p.P8P PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.P8P|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Silent_p.P8P|PSG3_uc002ova.2_Silent_p.P8P|PSG3_uc002ouz.2_Silent_p.P8P|PSG3_uc002ovb.3_Silent_p.P8P NM_006905 NP_008836 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA. 8 defense response|female pregnancy extracellular region p.P7fs*19(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GCTGTGTGCAGGGAGGGGCTG 0.572000 98 22 0 0 1 0 0 MPEG1 219972 broad.mit.edu 37 11 58978763 58978764 + Missense_Mutation DNP CC AT AT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:58978763_58978764CC>AT uc001nnu.4 - 0 1731_1732 c.1575_1576GG>AT c.(1573-1578)gcggtc>gcATtc p.V526F NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN Homo sapiens macrophage expressed 1 (MPEG1), mRNA. 526 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) CCAAAGGGGACCGCAAACCTGC 0.520000 34 16 0 0 1 0 0 RAB6B 51560 broad.mit.edu 37 3 133547639 133547639 + Missense_Mutation SNP G A A rs149351332 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:133547639G>A uc003epy.3 - 7 1001 c.620C>T c.(619-621)tCc>tTc p.S207F RAB6B_uc011blu.1_Missense_Mutation_p.S194F NM_016577 NP_057661 Q9NRW1 RAB6B_HUMAN Homo sapiens RAB6B, member RAS oncogene family (RAB6B), mRNA. 207 protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction Golgi membrane|cytoplasmic membrane-bounded vesicle GTP binding|GTPase activity|protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 11 GCATTAGCAGGAGCAGCCGCC 0.587000 239 44 0 0 1 0 0 CCBE1 147372 broad.mit.edu 37 18 57115254 57115254 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:57115254G>A uc002lib.3 - 6 806 c.736C>T c.(736-738)Cca>Tca p.P246S CCBE1_uc010dpq.3_Silent_p.F21F|CCBE1_uc002lia.3_Missense_Mutation_p.P99S NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA. 246 Collagen-like 1. lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) GGAGGTCCTGGAAGGTAGGTG 0.577000 80 6 0 0 1 0 0 SPANXE 171489 broad.mit.edu 37 X 140785712 140785712 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:140785712C>T uc004fbq.3 - 1 297 c.204G>A c.(202-204)gtG>gtA p.V68V NM_145665 NP_663698 Q8TAD1 SPNXE_HUMAN Homo sapiens SPANX family, member E (SPANXE), mRNA. 68 V -> L (in dbSNP:rs5953618). cytoplasm|nucleus Acute lymphoblastic leukemia(192;7.65e-05) CGTGGTCATTCACCAGTTCCT 0.448000 130 15 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82456558 82456558 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:82456558C>T uc001dit.4 + 20 4122 c.3941C>T c.(3940-3942)tCt>tTt p.S1314F LPHN2_uc001dis.3_Missense_Mutation_p.S294F|LPHN2_uc001diu.3_Missense_Mutation_p.S1314F|LPHN2_uc001div.3_3'UTR|LPHN2_uc009wcd.3_3'UTR|LPHN2_uc001diw.3_Missense_Mutation_p.S941F NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 1370 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AACAGAGACTCTCTTTATACA 0.517000 10 3 0 0 1 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29896970 29896970 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:29896970G>A uc010vec.2 - 7 1554 c.1309C>T c.(1309-1311)Ctc>Ttc p.L437F BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.L367F|SEZ6L2_uc002dur.4_Missense_Mutation_p.L367F|SEZ6L2_uc002duq.4_Missense_Mutation_p.L437F|SEZ6L2_uc010ved.2_Missense_Mutation_p.L393F|SEZ6L2_uc002dus.4_Missense_Mutation_p.L323F NM_001243332 NP_001230261 Q6UXD5 SE6L2_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA. 437 CUB 2. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCCACGTAGAGGGACTGGGCG 0.607000 79 8 0 0 1 0 0 PTGS2 5743 broad.mit.edu 37 1 186645059 186645059 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:186645059C>T uc001gsb.3 - 7 1365 c.1228G>A c.(1228-1230)Gaa>Aaa p.E410K PTGS2_uc009wyo.3_Missense_Mutation_p.E257K NM_000963 NP_000954 P35354 PGH2_HUMAN Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA. 410 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154) GTGAATGATTCAACAAACTGG 0.358000 34 5 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20808005 20808005 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:20808005C>T uc002npb.1 - 3 828 c.678G>A c.(676-678)gaG>gaA p.E226E ZNF626_uc002npc.1_Silent_p.E150E NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA. 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 TGTAGGGTTTCTCTCCAGTAT 0.398000 19 3 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2024297 2024297 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:2024297C>T uc003wpx.4 + 10 1335 c.1197C>T c.(1195-1197)gtC>gtT p.V399V MYOM2_uc011kwi.2_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 399 Fibronectin type-III 1. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GGGACTACGTCATCGTGACCT 0.622000 25 7 0 0 1 0 0 SPANXE 171489 broad.mit.edu 37 X 140785748 140785748 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:140785748C>T uc004fbq.3 - 1 261 c.168G>A c.(166-168)agG>agA p.R56R NM_145665 NP_663698 Q8TAD1 SPNXE_HUMAN Homo sapiens SPANX family, member E (SPANXE), mRNA. 56 cytoplasm|nucleus Acute lymphoblastic leukemia(192;7.65e-05) TAAAGTTCCTCCTGTAGCGAA 0.488000 132 36 0 0 1 0 0 LRP6 4040 broad.mit.edu 37 12 12284868 12284868 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:12284868G>A uc001rah.4 - 17 3999 c.3857C>T c.(3856-3858)cCt>cTt p.P1286L BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Intron NM_002336 NP_002327 O75581 LRP6_HUMAN Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA. 1286 LDL-receptor class A 1. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) TGAGCATACAGGACAATTGAG 0.498000 266 22 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98001937 98001937 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:98001937G>A uc003dsj.1 + 0 206 c.206G>A c.(205-207)gGg>gAg p.G69E NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA. 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G69W(1) breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 TTTTTTCTTGGGAGTTTAGCC 0.403000 79 7 0 0 1 0 0 TM6SF2 53345 broad.mit.edu 37 19 19379523 19379523 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:19379523G>A uc002nmd.1 - 5 575 c.525C>T c.(523-525)acC>acT p.T175T HAPLN4_uc002nmc.3_Intron NM_001001524 NP_001001524 Q9BZW4 TM6S2_HUMAN Homo sapiens transmembrane 6 superfamily member 2 (TM6SF2), mRNA. 175 integral to membrane breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Epithelial(12;0.0151) GGTAGGGGATGGTGAGGAAGA 0.607000 35 4 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76482354 76482354 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:76482354G>A uc010dhp.2 - 44 7178 c.7053C>T c.(7051-7053)ttC>ttT p.F2351F NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGGTGAACACGAAGTACAGCT 0.627000 40 5 0 0 1 0 0 ALDH3B2 222 broad.mit.edu 37 11 67433035 67433035 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:67433035C>T uc001omr.3 - 6 866 c.427G>A c.(427-429)Gac>Aac p.D143N ALDH3B2_uc001oms.3_Missense_Mutation_p.D143N|ALDH3B2_uc009ysa.1_Missense_Mutation_p.D143N NM_000695 NP_001026786 P48448 AL3B2_HUMAN Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA. 143 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) GTCTGGGGGTCGCAGTTGTCG 0.637000 156 14 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21878027 21878027 + Missense_Mutation SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:21878027G>T uc001war.2 - 9 2412 c.2347C>A c.(2347-2349)Cca>Aca p.P783T CHD8_uc001was.2_Missense_Mutation_p.P504T|CHD8_uc001wav.1_5'UTR NM_001170629 NP_001164100 Q9HCK8 CHD8_HUMAN Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA. 783 Chromo 2. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TTGAGTTCTGGGTGCCTTGAC 0.373000 48 4 1 1 1 1 0 APOL1 8542 broad.mit.edu 37 22 36661378 36661378 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:36661378C>T uc003ape.3 + 6 818 c.544C>T c.(544-546)Cag>Tag p.Q182* APOL1_uc011amn.1_Nonsense_Mutation_p.Q43*|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Nonsense_Mutation_p.Q43*|APOL1_uc003apf.3_Nonsense_Mutation_p.Q166*|APOL1_uc011amp.2_Nonsense_Mutation_p.Q166*|APOL1_uc011amq.2_Nonsense_Mutation_p.Q148*|APOL1_uc010gwx.3_Nonsense_Mutation_p.Q43* NM_145343 NP_003652 O14791 APOL1_HUMAN Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA. 166 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 AGATGGGGTTCAGAAGGTCCA 0.532000 109 8 0 0 1 0 0 ARSE 415 broad.mit.edu 37 X 2867671 2867672 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:2867671_2867672GG>AA uc011mhh.2 - 6 1063_1064 c.602_603CC>TT c.(601-603)tcc>tTT p.S201F ARSE_uc011mhi.2_Missense_Mutation_p.S122F|ARSE_uc004crc.4_Missense_Mutation_p.S176F P51690 ARSE_HUMAN Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA. 176 skeletal system development Golgi stack arylsulfatase activity|metal ion binding p.S176F(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CACCCATCAAGGAGAAAGGCAT 0.515000 14 5 0 0 1 0 0 PUF60 22827 broad.mit.edu 37 8 144898752 144898752 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:144898752G>A uc003yzs.3 - 11 1682 c.1618C>T c.(1618-1620)Cgc>Tgc p.R540C SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzq.3_Missense_Mutation_p.R497C|PUF60_uc003yzr.3_Missense_Mutation_p.R480C|PUF60_uc003yzt.3_Missense_Mutation_p.R523C NM_078480 NP_510965 Q9UHX1 PUF60_HUMAN Homo sapiens poly-U binding splicing factor 60KDa (PUF60), transcript variant 1, mRNA. 540 Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical. RNA splicing|apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|RNA binding|nucleotide binding|protein binding NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2) 14 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) ACCACCTTGCGGCCAGCAAAC 0.532000 145 7 0 0 1 0 0 LRRC55 219527 broad.mit.edu 37 11 56954853 56954853 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:56954853T>C uc001njl.2 + 1 1072 c.925T>C c.(925-927)Ttc>Ctc p.F309L NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA. 279 Poly-Glu. integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 GTTCGTGGGCTTCGTGGTCTC 0.582000 56 4 0 0 1 0 0 TRIM68 55128 broad.mit.edu 37 11 4621926 4621926 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:4621926G>A uc001lzf.2 - 6 1328 c.1038C>T c.(1036-1038)atC>atT p.I346I TRIM68_uc010qyj.2_Non-coding_Transcript NM_018073 NP_060543 Q6AZZ1 TRI68_HUMAN Homo sapiens tripartite motif containing 68 (TRIM68), mRNA. 346 B30.2/SPRY. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding p.I346I(2) breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) TTCCCAGGACGATATTATAGC 0.527000 21 6 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 33985459 33985459 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:33985459G>A uc001bxm.1 - 68 10866 c.10689C>T c.(10687-10689)ttC>ttT p.F3563F CSMD2_uc001bxn.1_Silent_p.F3419F NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 3419 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGAGGGCGATGAAAGGCACCA 0.602000 53 4 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9317791 9317791 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:9317791C>T uc001qvl.3 - 18 2460 c.2431G>A c.(2431-2433)Gga>Aga p.G811R PZP_uc009zgl.3_Missense_Mutation_p.G680R|PZP_uc010sgo.1_Non-coding_Transcript|PZP_uc009zgm.1_Missense_Mutation_p.G143R NM_002864 NP_002855 Homo sapiens pregnancy-zone protein (PZP), mRNA. breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 AAGACCTCTCCACGAATCACA 0.512000 69 5 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139163511 139163511 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:139163511C>T uc003yuy.3 - 12 3378 c.3207G>A c.(3205-3207)caG>caA p.Q1069Q FAM135B_uc003yux.3_Silent_p.Q970Q|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.Q631Q|FAM135B_uc003yvb.3_Silent_p.Q631Q NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 1069 p.Q1069H(3) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ATCCCAAAGGCTGATGGGTGA 0.527000 HNSCC(54;0.14) 34 5 0 0 1 0 0 C9orf152 401546 broad.mit.edu 37 9 112963346 112963346 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:112963346G>A uc011lwk.2 - 1 1156 c.602C>T c.(601-603)cCt>cTt p.P201L C9orf152_uc022blq.1_5'Flank NM_001012993 NP_001013011 Q5JTZ5 CI152_HUMAN Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA. 201 NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 TATGGAAAGAGGACATTGAGT 0.527000 46 13 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121732522 121732522 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:121732522C>T uc010flp.3 + 7 1235 c.1205C>T c.(1204-1206)tCa>tTa p.S402L GLI2_uc002tmq.1_Missense_Mutation_p.S74L|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.S74L|GLI2_uc002tmu.4_Intron|GLI2_uc010flo.1_Intron|GLI2_uc002tmw.1_Intron NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 402 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GGACACGGCTCATGTGGGTGT 0.567000 67 15 0 0 1 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A G G rs138671696 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:62968690A>G uc002jez.3 - 3 c.641T>C AMZ2P1_uc002jfa.3_Non-coding_Transcript|AMZ2P1_uc002jfb.3_Non-coding_Transcript|AMZ2P1_uc010del.2_Non-coding_Transcript Homo sapiens archaelysin family metallopeptidase 2 pseudogene 1 (AMZ2P1), non-coding RNA. AAAATTCCACAAGTCTCTTGG 0.373000 106 4 0 0 1 0 0 RAB41 347517 broad.mit.edu 37 X 69504464 69504464 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:69504464G>A uc010nkv.3 + 7 683 c.637G>A c.(637-639)Gag>Aag p.E213K NM_001032726 NP_001027898 Q5JT25 RAB41_HUMAN Homo sapiens RAB41, member RAS oncogene family (RAB41), mRNA. 214 protein transport|small GTPase mediated signal transduction GTP binding p.F213F(1) breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2) 14 GGAATCCTTCGAGGAGTCAGG 0.463000 21 11 0 0 1 0 0 PRKD2 25865 broad.mit.edu 37 19 47219486 47219486 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:47219486G>A uc002pfh.3 - 1 484 c.142C>T c.(142-144)Cac>Tac p.H48Y PRKD2_uc002pfg.3_5'Flank|PRKD2_uc002pfi.3_Missense_Mutation_p.H48Y|PRKD2_uc002pfj.3_Missense_Mutation_p.H48Y|PRKD2_uc010xye.2_Missense_Mutation_p.H48Y|PRKD2_uc002pfk.3_5'UTR NM_001079881 NP_001073351 Q9BZL6 KPCD2_HUMAN Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA. 48 T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) ATCTGGATGTGAAAGGAGACC 0.697000 49 5 0 0 1 0 0 NT5C1B-RDH14 100526794 broad.mit.edu 37 2 18757556 18757556 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:18757556C>T uc010exr.3 - 7 1341 c.1229G>A c.(1228-1230)gGg>gAg p.G410E NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.G468E|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.G408E|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.G468E|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.G451E|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.G485E|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.G470E|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.G408E NM_001199103 NP_001186032 Q96P26 5NT1B_HUMAN Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA. 468 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding GACAGCATCCCCATCAAAGGC 0.448000 19 3 0 0 1 0 0 SFI1 9814 broad.mit.edu 37 22 31985558 31985558 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:31985558C>T uc003ale.3 + 14 1932 c.1539C>T c.(1537-1539)ttC>ttT p.F513F SFI1_uc003ald.1_Silent_p.F489F|SFI1_uc003alf.3_Silent_p.F482F|SFI1_uc003alg.3_Silent_p.F431F|SFI1_uc011alp.2_Silent_p.F431F|SFI1_uc011alq.2_Silent_p.F458F|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA. 513 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 CAACACGTTTCCACAGGTATG 0.537000 66 7 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50929170 50929170 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:50929170C>T uc002lfe.2 + 18 3458 c.2842C>T c.(2842-2844)Ccc>Tcc p.P948S DCC_uc010xdr.1_Missense_Mutation_p.P776S|DCC_uc010dpf.2_Missense_Mutation_p.P583S NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 948 Fibronectin type-III 6. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CACCTCTGCTCCCAAGGACTT 0.463000 103 5 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49671596 49671596 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:49671596G>A uc002efs.3 - 4 1765 c.1467C>T c.(1465-1467)ttC>ttT p.F489F ZNF423_uc010vgn.2_Silent_p.F372F NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN Homo sapiens zinc finger protein 423 (ZNF423), mRNA. 489 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TGATGTCGGCGAACATCTCGG 0.557000 55 10 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 56138562 56138562 + Missense_Mutation SNP C T T rs140716525 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:56138562C>T uc010qhy.1 - 4 708 c.313G>A c.(313-315)Gga>Aga p.G105R PCDH15_uc010qhq.2_Missense_Mutation_p.G105R|PCDH15_uc010qhr.2_Missense_Mutation_p.G100R|PCDH15_uc021pqv.1_Missense_Mutation_p.G100R|PCDH15_uc021pqw.1_Missense_Mutation_p.G105R|PCDH15_uc010qht.2_Missense_Mutation_p.G100R|PCDH15_uc021pqx.1_Missense_Mutation_p.G100R|PCDH15_uc001jjv.1_Missense_Mutation_p.G78R|PCDH15_uc021pqy.1_Missense_Mutation_p.G100R|PCDH15_uc021pqz.1_Missense_Mutation_p.G78R|PCDH15_uc010qhv.1_Missense_Mutation_p.G100R|PCDH15_uc010qhw.1_Missense_Mutation_p.G100R|PCDH15_uc010qhx.1_Missense_Mutation_p.G100R|PCDH15_uc010qhz.1_Missense_Mutation_p.G100R|PCDH15_uc010qia.1_Missense_Mutation_p.G78R|PCDH15_uc001jju.1_Missense_Mutation_p.G100R|PCDH15_uc010qib.1_Missense_Mutation_p.G78R|PCDH15_uc001jjw.3_Missense_Mutation_p.G100R NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 100 Cadherin 1. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.D104H(1) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) AGAACTCTTCCGGTGCTGTTC 0.358000 HNSCC(58;0.16) 11 3 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12735962 12735962 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:12735962C>T uc004cuz.2 + 15 3523 c.3017C>T c.(3016-3018)tCg>tTg p.S1006L FRMPD4_uc011mij.2_Missense_Mutation_p.S998L NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA. 1006 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 GAGACTAAGTCGGTCACTGAC 0.537000 46 8 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 3678647 3678647 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:3678647C>T uc003smx.3 + 2 609 c.470C>T c.(469-471)cCa>cTa p.P157L NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 157 Ig-like C2-type 1. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TACATTATTCCATCTTTGCAG 0.403000 26 3 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390597 197390597 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:197390597C>T uc001gtz.3 + 5 1848 c.1639C>T c.(1639-1641)Cag>Tag p.Q547* CRB1_uc010poz.2_Nonsense_Mutation_p.Q478*|CRB1_uc009wza.3_Nonsense_Mutation_p.Q435*|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Nonsense_Mutation_p.Q547*|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Nonsense_Mutation_p.Q28*|CRB1_uc001gub.1_Nonsense_Mutation_p.Q196* NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 547 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CTTATCAATTCAGGTCAATAA 0.458000 49 9 0 0 1 0 0 MCMDC2 157777 broad.mit.edu 37 8 67786609 67786609 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:67786609C>T uc003xwz.4 + 2 314 c.143C>T c.(142-144)cCc>cTc p.P48L MCMDC2_uc003xwv.3_Missense_Mutation_p.P48L|MCMDC2_uc011lev.2_Missense_Mutation_p.P48L|MCMDC2_uc011lew.2_Intron|MCMDC2_uc011lex.2_Intron|MCMDC2_uc003xwy.4_Missense_Mutation_p.P48L NM_173518 NP_775789 Q4G0Z9 CH045_HUMAN Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA. 48 DNA replication ATP binding|DNA binding endometrium(2)|kidney(2)|lung(5) 9 TTAATAAATCCCTCTGATGTT 0.308000 37 4 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144945117 144945117 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:144945117C>T uc003zaa.1 - 0 2318 c.2305G>A c.(2305-2307)Gac>Aac p.D769N NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 769 cytoplasm|cytoskeleton protein binding|structural molecule activity p.F768F(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTGTTGGGGTCGAAGAAGCCC 0.627000 115 12 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2984134 2984134 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:2984134C>T uc003smv.3 - 4 730 c.396G>A c.(394-396)atG>atA p.M132I NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 132 T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.Q132>HTLMTWW(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TGACCTCGTTCATCAGGAAGT 0.602000 Mis DLBCL 78 5 0 0 1 0 0 KIF3B 9371 broad.mit.edu 37 20 30898189 30898189 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:30898189C>T uc002wxq.3 + 1 789 c.609C>T c.(607-609)gtC>gtT p.V203V KIF3B_uc010ztv.2_Silent_p.V203V|KIF3B_uc010ztw.2_Silent_p.V203V NM_004798 NP_004789 O15066 KIF3B_HUMAN Homo sapiens kinesin family member 3B (KIF3B), mRNA. 203 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ACCGTTCTGTCGGTGCTACCA 0.493000 32 4 0 0 1 0 0 C4orf21 55345 broad.mit.edu 37 4 113539774 113539774 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:113539774G>A uc003iau.3 - 5 1635 c.1424C>T c.(1423-1425)tCa>tTa p.S475L C4orf21_uc003iaw.3_Missense_Mutation_p.S475L NM_018392 NP_060862 Q86YA3 CD021_HUMAN Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA. 475 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) AGATGACTCTGATTGTTCATA 0.353000 53 6 0 0 1 0 0 OLFML3 56944 broad.mit.edu 37 1 114524263 114524263 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:114524263T>A uc001eer.1 + 2 1202 c.1093T>A c.(1093-1095)Ttt>Att p.F365I OLFML3_uc001ees.1_Missense_Mutation_p.F345I|OLFML3_uc001eet.1_Missense_Mutation_p.F221I NM_020190 NP_064575 Q9NRN5 OLFL3_HUMAN Homo sapiens olfactomedin-like 3 (OLFML3), mRNA. 365 Olfactomedin-like. multicellular organismal development extracellular region breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1) 14 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTCCCTTATTTTCCCCGCAG 0.582000 51 5 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183713528 183713528 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:183713528C>T uc003ivd.1 + 24 5778 c.5703C>T c.(5701-5703)acC>acT p.T1901T NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1901 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CTCGCCACACCATGCAGACCA 0.552000 63 6 0 0 1 0 0 LGALS12 85329 broad.mit.edu 37 11 63276098 63276098 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:63276098C>T uc001nxc.2 + 1 550 c.209C>T c.(208-210)cCt>cTt p.P70L LGALS12_uc001nxa.2_Missense_Mutation_p.P70L|LGALS12_uc001nxb.2_Missense_Mutation_p.P70L|LGALS12_uc001nxd.2_Missense_Mutation_p.P9L|LGALS12_uc001nxe.2_Missense_Mutation_p.P9L|LGALS12_uc009yot.2_Silent_p.P32P NM_001142535 NP_001136007 Q96DT0 LEG12_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA. 70 Galectin 1. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 GGAGTGGTCCCTCTAGATGCA 0.572000 58 4 0 0 1 0 0 NPC1 4864 broad.mit.edu 37 18 21136323 21136323 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:21136323G>A uc002kum.4 - 7 1484 c.1210C>T c.(1210-1212)Cgg>Tgg p.R404W NPC1_uc010xaz.2_Missense_Mutation_p.R205W|NPC1_uc010xba.1_Missense_Mutation_p.R249W NM_000271 NP_000262 O15118 NPC1_HUMAN Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA. 404 R -> P (in NPC1).|R -> Q (in NPC1).|R -> W (in NPC1). autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) TGCTCCGTCCGGAAGAAAGGC 0.562000 42 8 0 0 1 0 0 UBQLNL 143630 broad.mit.edu 37 11 5536668 5536668 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:5536668C>T uc001maz.4 - 0 1289 c.1004G>A c.(1003-1005)aGc>aAc p.S335N HBG1_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN Homo sapiens ubiquilin-like (UBQLNL), mRNA. 335 endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) ACCACCAGAGCTATTATAGAT 0.502000 55 6 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154680484 154680484 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:154680484G>A uc021pah.1 - 8 2523 c.2209C>T c.(2209-2211)Ccg>Tcg p.P737S KCNN3_uc001ffo.3_Missense_Mutation_p.P417S|KCNN3_uc001ffp.3_Missense_Mutation_p.P722S NM_001204087 NP_001191016 Q9UGI6 KCNN3_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA. 727 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) TACGGGGTCGGGAAGGAGGTG 0.562000 158 19 0 0 1 0 0 PRSS22 64063 broad.mit.edu 37 16 2905736 2905736 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:2905736G>A uc002cry.1 - 3 464 c.398C>T c.(397-399)tCc>tTc p.S133F NM_022119 NP_071402 Q9GZN4 BSSP4_HUMAN Homo sapiens protease, serine, 22 (PRSS22), mRNA. 133 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2) 10 TTCCTTCCAGGAATACACAGG 0.622000 61 11 0 0 1 0 0 ACOXL 55289 broad.mit.edu 37 2 111691128 111691128 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:111691128C>T uc010yxk.1 + 11 1192 c.968C>T c.(967-969)tCg>tTg p.S323L ACOXL_uc021vmm.1_Missense_Mutation_p.S146L|ACOXL_uc021vmn.1_Missense_Mutation_p.S146L NM_001142807 NP_001136279 Q9NUZ1 ACOXL_HUMAN Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA. 323 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 AACAGTCGCTCGCTGCAGGCT 0.627000 42 4 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140736846 140736846 + Silent SNP C T T rs139727169 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140736846C>T uc003ljq.2 + 0 2079 c.2079C>T c.(2077-2079)ctC>ctT p.L693L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljs.2_5'Flank|PCDHGC5_uc003ljp.1_Silent_p.L693L|PCDHGC5_uc011dar.2_5'Flank NM_018917 NP_061740 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA. 694 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACTCTATCTCGTGGTGGCAG 0.607000 21 3 0 0 1 0 0 CHAF1A 10036 broad.mit.edu 37 19 4409665 4409665 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:4409665C>T uc002mal.3 + 2 969 c.869C>T c.(868-870)cCc>cTc p.P290L NM_005483 NP_005474 Q13111 CAF1A_HUMAN Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA. 290 Binds to CBX1 chromo shadow domain. DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CTGAGCTCTCCCTCTTCCACC 0.617000 Chromatin Structure 44 12 0 0 1 0 0 PM20D1 148811 broad.mit.edu 37 1 205813996 205813996 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:205813996C>T uc001hdj.3 - 3 595 c.519G>A c.(517-519)ctG>ctA p.L173L PM20D1_uc009xbr.3_Non-coding_Transcript NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA. 173 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) ACTTCCTGATCAGCAGGAGCT 0.488000 53 4 0 0 1 0 0 MTMR14 64419 broad.mit.edu 37 3 9724895 9724895 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:9724895C>T uc003brz.3 + 9 1082 c.931C>T c.(931-933)Ctg>Ttg p.L311L MTMR14_uc003bsa.3_Silent_p.L311L|MTMR14_uc003bsb.3_Silent_p.L311L|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_Silent_p.L65L|MTMR14_uc003bsc.3_Non-coding_Transcript|MTMR14_uc021wss.1_5'Flank NM_001077525 NP_001070993 Q8NCE2 MTMRE_HUMAN Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA. 311 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) ACAAAACTACCTGAAGCTGCT 0.428000 54 4 0 0 1 0 0 UGT2B15 7366 broad.mit.edu 37 4 69533878 69533878 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:69533878C>T uc021xow.1 - 1 911 c.753G>A c.(751-753)atG>atA p.M251I NM_001076 NP_001067 P54855 UDB15_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA. 251 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity CAGCTTTCCCCATTGTCTCAA 0.363000 29 6 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16279248 16279248 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:16279248C>T uc010gqp.2 - 3 1027 c.975G>A c.(973-975)gtG>gtA p.V325V POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.V44V|POTEH_uc002zlj.1_Silent_p.V160V NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA. 325 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TTAAAAATTTCACCACTTGCT 0.328000 144 8 0 0 1 0 0 OR10J5 127385 broad.mit.edu 37 1 159505359 159505359 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:159505359C>T uc010piw.2 - 0 439 c.439G>A c.(439-441)Ggg>Agg p.G147R NM_001004469 NP_001004469 Q8NHC4 O10J5_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA. 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C146S(1) kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) CCAAAGGACCCACACACCAGC 0.512000 41 4 0 0 1 0 0 RNF186 54546 broad.mit.edu 37 1 20141037 20141037 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:20141037G>A uc001bcr.3 - 0 735 c.558C>T c.(556-558)atC>atT p.I186I NM_019062 NP_061935 Q9NXI6 RN186_HUMAN Homo sapiens ring finger protein 186 (RNF186), mRNA. 186 integral to membrane zinc ion binding kidney(1)|lung(3)|urinary_tract(1) 5 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGGCCAGGGCGATGATGAAGG 0.627000 88 7 0 0 1 0 0 BMP10 27302 broad.mit.edu 37 2 69093224 69093224 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:69093224C>T uc002sez.1 - 1 973 c.814G>A c.(814-816)Gaa>Aaa p.E272K NM_014482 NP_055297 O95393 BMP10_HUMAN Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA. 272 BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis Z disc|cell surface|extracellular space cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 GAAATCATTTCATTCAGTTCC 0.463000 18 4 0 0 1 0 0 ARMC8 25852 broad.mit.edu 37 3 138003356 138003356 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:138003356C>T uc003esa.1 + 19 2134 c.1767C>T c.(1765-1767)atC>atT p.I589I NME9_uc003esd.1_Intron|NME9_uc010huf.1_Intron|NME9_uc003ese.1_Intron|ARMC8_uc011bmf.1_Silent_p.I572I|ARMC8_uc011bmg.1_Silent_p.I536I|ARMC8_uc011bmh.1_Silent_p.I530I|ARMC8_uc003esb.1_Silent_p.I561I|ARMC8_uc003esc.1_Silent_p.I361I|ARMC8_uc003esf.1_Silent_p.I172I NM_015396 NP_056211 Q8IUR7 ARMC8_HUMAN Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA. 603 binding endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1) 16 TACAGAAAATCAAGTATTACA 0.383000 133 11 0 0 1 0 0 ACR 49 broad.mit.edu 37 22 51178159 51178159 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:51178159G>A uc003bnh.4 + 2 331 c.319G>A c.(319-321)Gaa>Aaa p.E107K BC050343_uc003bng.3_5'Flank|ACR_uc010hbh.1_Missense_Mutation_p.E107K NM_001097 NP_001088 P10323 ACRO_HUMAN Homo sapiens acrosin (ACR), mRNA. 107 Peptidase S1. acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) CGGAGCAAAGGAAATTACATA 0.468000 98 15 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181480585 181480585 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:181480585C>T uc009wxt.3 + 2 646 c.451C>T c.(451-453)Cat>Tat p.H151Y CACNA1E_uc001gow.3_Missense_Mutation_p.H151Y|CACNA1E_uc009wxs.3_Missense_Mutation_p.H151Y|CACNA1E_uc009wxr.3_Missense_Mutation_p.H58Y NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 151 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.F150F(1) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GTTCATCTTCCATAAGGGCTC 0.478000 123 16 0 0 1 0 0 PODN 127435 broad.mit.edu 37 1 53547716 53547716 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:53547716G>A uc001cuv.3 + 9 2037 c.1869G>A c.(1867-1869)caG>caA p.Q623Q PODN_uc010onr.2_Silent_p.Q604Q|PODN_uc010ons.2_Silent_p.Q481Q|PODN_uc001cuw.3_Silent_p.Q604Q NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN Homo sapiens podocan (PODN), transcript variant 1, mRNA. 575 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AGCACCTGCAGGTCTTGGACA 0.572000 75 8 0 0 1 0 0 MCOLN1 57192 broad.mit.edu 37 19 7594574 7594574 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:7594574C>T uc002mgo.3 + 10 1476 c.1335C>T c.(1333-1335)atC>atT p.I445I MCOLN1_uc002mgp.3_Silent_p.I410I NM_020533 NP_065394 Q9GZU1 MCLN1_HUMAN Homo sapiens mucolipin 1 (MCOLN1), mRNA. 445 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTGGCTGGATCGTGCTGGGGC 0.582000 138 8 0 0 1 0 0 G6PC 2538 broad.mit.edu 37 17 41063293 41063293 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:41063293C>T uc002icb.1 + 4 1003 c.924C>T c.(922-924)gtC>gtT p.V308V G6PC_uc010whf.1_3'UTR NM_000151 NP_000142 P35575 G6PC_HUMAN Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA. 308 gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) TCCTGCACGTCTTTGACTCCT 0.562000 156 26 0 0 1 0 0 TRIB3 57761 broad.mit.edu 37 20 368793 368793 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:368793C>T uc002wdn.3 + 2 537 c.220C>T c.(220-222)Ctg>Ttg p.L74L TRIB3_uc002wdm.3_Silent_p.L47L NM_021158 NP_066981 Q96RU7 TRIB3_HUMAN Homo sapiens tribbles homolog 3 (Drosophila) (TRIB3), mRNA. 47 Protein kinase. apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of MAP kinase activity|regulation of glucose transport|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1) 21 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) GCCCCCCTGCCTGTTGCCCCT 0.637000 73 16 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58108937 58108937 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:58108937G>A uc003djj.2 + 20 3409 c.3244G>A c.(3244-3246)Gag>Aag p.E1082K FLNB_uc010hne.2_Missense_Mutation_p.E1082K|FLNB_uc003djk.2_Missense_Mutation_p.E1082K|FLNB_uc010hnf.2_Missense_Mutation_p.E1082K|FLNB_uc003djl.2_Missense_Mutation_p.E913K|FLNB_uc003djm.2_Missense_Mutation_p.E913K NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 1082 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) AGGTCCGTGCGAGGCCAAAAT 0.567000 105 5 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14439236 14439236 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:14439236G>A uc002yja.4 + 9 c.2754G>A Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA. AAAAATTAGGGAAGAATTAGG 0.294000 8 4 0 0 1 0 0 STMN4 81551 broad.mit.edu 37 8 27100000 27100000 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:27100000T>A uc011lak.2 - 2 137 c.23A>T c.(22-24)gAg>gTg p.E8V STMN4_uc003xfj.3_Missense_Mutation_p.E8V|STMN4_uc011lai.2_Missense_Mutation_p.E8V|STMN4_uc011laj.2_5'UTR|STMN4_uc003xfk.3_Missense_Mutation_p.E8V|STMN4_uc010luo.3_Missense_Mutation_p.E8V NM_030795 NP_110422 Q9H169 STMN4_HUMAN Homo sapiens stathmin-like 4 (STMN4), mRNA. 8 intracellular signal transduction endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1) 11 Ovarian(32;0.00167) UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142) CTTCATCTTCTCTTTGTAGGC 0.577000 28 5 0 0 1 0 0 DHX35 60625 broad.mit.edu 37 20 37620139 37620139 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:37620139C>T uc002xjh.3 + 5 523 c.493C>T c.(493-495)Ccg>Tcg p.P165S DHX35_uc010zwa.2_Missense_Mutation_p.P10S|DHX35_uc010zwc.2_Missense_Mutation_p.P134S|DHX35_uc010zwb.2_Missense_Mutation_p.P10S NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA. 165 Helicase ATP-binding. catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding p.P165P(1) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) GATGGTTGATCCGTTGTTAAC 0.353000 24 6 0 0 1 0 0 LHX6 26468 broad.mit.edu 37 9 124988736 124988736 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:124988736G>A uc004blx.4 - 3 452 c.380C>T c.(379-381)tCc>tTc p.S127F LHX6_uc010mvw.3_Missense_Mutation_p.S98F|LHX6_uc022bmx.1_Missense_Mutation_p.S116F|LHX6_uc004bly.4_Missense_Mutation_p.S127F NM_014368 NP_055183 Q9UPM6 LHX6_HUMAN Homo sapiens LIM homeobox 6 (LHX6), transcript variant 1, mRNA. 98 Required for interaction with LBD1 (By similarity). cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(5) 8 GCGACACACGGAGCACTCGAG 0.637000 110 21 0 0 1 0 0 KRT32 3882 broad.mit.edu 37 17 39623286 39623286 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39623286C>T uc002hwr.3 - 0 353 c.292G>A c.(292-294)Gaa>Aaa p.E98K NM_002278 NP_002269 Q14532 K1H2_HUMAN Homo sapiens keratin 32 (KRT32), mRNA. 98 Coil 1A.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) TGCATGGTTTCCTTCTCATTG 0.607000 102 14 0 0 1 0 0 MTMR3 8897 broad.mit.edu 37 22 30412626 30412626 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:30412626C>T uc003agv.4 + 14 1941 c.1613C>T c.(1612-1614)tCa>tTa p.S538L MTMR3_uc003agu.4_Missense_Mutation_p.S538L|MTMR3_uc003agw.4_Missense_Mutation_p.S538L NM_021090 NP_066576 Q13615 MTMR3_HUMAN Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA. 538 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TCCGTGTGGTCACTTCTTCGG 0.498000 121 10 0 0 1 0 0 CHRM5 1133 broad.mit.edu 37 15 34356376 34356376 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:34356376C>T uc001zhk.1 + 2 2128 c.1458C>T c.(1456-1458)gtC>gtT p.V486V CHRM5_uc001zhl.1_Silent_p.V486V|CHRM5_uc021sir.1_Silent_p.V486V NM_012125 NP_036257 P08912 ACM5_HUMAN Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA. 486 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) TGTGCTATGTCAATAGCACTG 0.483000 90 5 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196654241 196654241 + Silent SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:196654241T>C uc001gtj.4 + 6 1078 c.838T>C c.(838-840)Tta>Cta p.L280L CFH_uc001gti.4_Silent_p.L280L|CFH_uc009wyw.3_Silent_p.L280L|CFH_uc009wyx.3_Silent_p.L216L NM_000186 NP_000177 P08603 CFAH_HUMAN Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 280 Sushi 5. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CTACTCACCTTTAAGGATTAA 0.348000 10 3 0 0 1 0 0 C17orf53 78995 broad.mit.edu 37 17 42230109 42230109 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:42230109C>T uc002ifi.2 + 4 1650 c.1413C>T c.(1411-1413)ttC>ttT p.F471F C17orf53_uc010czq.2_Silent_p.F471F|C17orf53_uc002ifj.2_Intron|C17orf53_uc002ifk.1_Intron NM_024032 NP_076937 Q8N3J3 CQ053_HUMAN Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA. 471 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) CTAGCTGCTTCCTCTGTACCT 0.537000 82 7 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56572533 56572533 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:56572533G>A uc002iwj.2 - 15 3080 c.2970C>T c.(2968-2970)gtC>gtT p.V990V NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN Homo sapiens myotubularin related protein 4 (MTMR4), mRNA. 990 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTGTGCTAGAGACTTGCTTTG 0.498000 140 22 0 0 1 0 0 POU2F2 5452 broad.mit.edu 37 19 42626697 42626697 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:42626697C>T uc002osp.3 - 1 122 c.60G>A c.(58-60)gaG>gaA p.E20E POU2F2_uc002osn.3_Silent_p.E20E|POU2F2_uc002osq.3_Silent_p.E20E|POU2F2_uc002osr.2_Silent_p.E20E NM_001207025 NP_001193954 P09086 PO2F2_HUMAN Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA. 20 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A19A(1) kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) GACCTTGCTTCTCGGCCTCCA 0.622000 33 4 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27157868 27157868 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:27157868C>T uc011lno.2 + 1 534 c.92C>T c.(91-93)tCc>tTc p.S31F TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.S31F|TEK_uc003zqi.4_Missense_Mutation_p.S31F|TEK_uc011lnp.2_Intron|TEK_uc003zqj.1_Missense_Mutation_p.S8F NM_000459 NP_000450 Q02763 TIE2_HUMAN Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA. 31 angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TTGATCAATTCCCTACCTCTT 0.458000 113 13 0 0 1 0 0 MSS51 118490 broad.mit.edu 37 10 75186374 75186374 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:75186374G>A uc009xrh.3 - 4 635 c.562C>T c.(562-564)Ctg>Ttg p.L188L MSS51_uc001juc.3_Silent_p.L165L|MSS51_uc001jud.3_Silent_p.L165L|MSS51_uc009xrg.3_Silent_p.F87F NM_001024593 NP_001019764 Q4VC12 ZMY17_HUMAN Homo sapiens zinc finger, MYND-type containing 17 (ZMYND17), mRNA. 165 zinc ion binding CCTGTGACCAGAAGCCATTCC 0.463000 142 10 0 0 1 0 0 HLA-DRA 3122 broad.mit.edu 37 6 32410965 32410965 + Missense_Mutation SNP C T T rs61117681 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:32410965C>T uc003obh.3 + 2 441 c.332C>T c.(331-333)cCt>cTt p.P111L HLA-DRA_uc003obi.3_Intron NM_019111 NP_061984 P01903 DRA_HUMAN Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA. 111 Alpha-2. T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane MHC class II receptor activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 CCCCCAGTACCTCCAGAGGTA 0.502000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of 32 3 0 0 1 0 0 PTPN22 26191 broad.mit.edu 37 1 114372269 114372269 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:114372269G>A uc001eds.3 - 17 2325 c.2195C>T c.(2194-2196)tCa>tTa p.S732L PTPN22_uc021orx.1_Missense_Mutation_p.S704L|PTPN22_uc009wgq.3_Missense_Mutation_p.S677L|PTPN22_uc021ory.1_Missense_Mutation_p.S708L|PTPN22_uc010owo.2_Missense_Mutation_p.S488L|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.S732L|PTPN22_uc009wgs.2_Missense_Mutation_p.S605L NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA. 732 T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm SH3 domain binding|kinase binding|protein tyrosine phosphatase activity NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGAAGATGTTGAATTTTCCAT 0.363000 80 33 0 0 1 0 0 COPS6 10980 broad.mit.edu 37 7 99688740 99688740 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:99688740G>A uc003usu.3 + 6 645 c.614G>A c.(613-615)cGa>cAa p.R205Q DD413568_uc022aif.1_5'Flank NM_006833 NP_006824 Q7L5N1 CSN6_HUMAN Homo sapiens COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis) (COPS6), mRNA. 205 cullin deneddylation|interspecies interaction between organisms cytoplasm|signalosome protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1) 12 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) CACGTAGCCCGAATGACAGCA 0.562000 52 15 0 0 1 0 0 TMCC3 57458 broad.mit.edu 37 12 94975869 94975869 + Missense_Mutation SNP C T T rs144591334 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:94975869C>T uc001tdj.2 - 1 642 c.524G>A c.(523-525)cGa>cAa p.R175Q TMCC3_uc001tdi.2_Missense_Mutation_p.R144Q NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA. 175 integral to membrane p.R175Q(2) NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 GGGGGCAGTTCGAGATTTCAC 0.498000 97 5 0 0 1 0 0 IQSEC1 9922 broad.mit.edu 37 3 12962040 12962040 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:12962040G>A uc003bxt.2 - 5 1961 c.1952C>T c.(1951-1953)aCc>aTc p.T651I IQSEC1_uc003bxu.3_Missense_Mutation_p.T529I|IQSEC1_uc011auw.1_Missense_Mutation_p.T637I NM_014869 NP_055684 Q6DN90 IQEC1_HUMAN Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA. 651 SEC7. regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GATGAAAATGGTGTCTGGGTT 0.597000 86 9 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220356962 220356962 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:220356962G>A uc010fwg.3 + 39 9591 c.9591G>A c.(9589-9591)aaG>aaA p.K3197K NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 3197 Protein kinase 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity p.R3196*(1) breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TCTTGCGAAAGGTTCTCTCTG 0.612000 39 8 0 0 1 0 0 WDR25 79446 broad.mit.edu 37 14 100934477 100934477 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:100934477C>T uc010avx.3 + 2 1035 c.942C>T c.(940-942)ttC>ttT p.F314F WDR25_uc001yhn.3_Silent_p.F314F|WDR25_uc010avy.3_Intron|WDR25_uc001yho.3_Silent_p.F57F NM_001161476 NP_078791 Q64LD2 WDR25_HUMAN Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA. 314 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) GCTTTGACTTCGCGCTGCACC 0.642000 152 35 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95670708 95670708 + Silent SNP G A A rs111287470 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:95670708G>A uc001yef.2 - 8 1094 c.978C>T c.(976-978)ttC>ttT p.F326F NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA. 326 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) CAGTCAGAACGAAGACTTTGC 0.443000 113 14 0 0 1 0 0 MFSD4 148808 broad.mit.edu 37 1 205549803 205549803 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:205549803C>T uc001hcv.4 + 2 530 c.444C>T c.(442-444)ttC>ttT p.F148F MFSD4_uc010prk.2_Intron|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.F93F NM_181644 NP_857595 Q8N468 MFSD4_HUMAN Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA. 148 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) TCCATTTCTTCGTGGGCTTTG 0.637000 127 39 0 0 1 0 0 CWC22 57703 broad.mit.edu 37 2 180818940 180818940 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:180818940G>A uc010frh.1 - 15 1981 c.1681C>T c.(1681-1683)Cca>Tca p.P561S CWC22_uc002uno.2_Missense_Mutation_p.P83S|CWC22_uc002unp.2_Missense_Mutation_p.P561S NM_020943 NP_065994 Q9HCG8 CWC22_HUMAN Homo sapiens CWC22 spliceosome-associated protein homolog (S. cerevisiae) (CWC22), mRNA. 561 MI. catalytic step 2 spliceosome RNA binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1) 30 ACACTCCATGGAAGTGAATCA 0.343000 9 3 0 0 1 0 0 GLT25D2 23127 broad.mit.edu 37 1 183938543 183938543 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:183938543G>A uc001gqr.3 - 4 1064 c.692C>T c.(691-693)cCc>cTc p.P231L GLT25D2_uc010poj.1_Missense_Mutation_p.P231L|GLT25D2_uc001gqs.3_Missense_Mutation_p.P111L NM_015101 NP_055916 Q8IYK4 GT252_HUMAN Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA. 231 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2) 31 CATGGGGACGGGGAAGCAGCC 0.522000 54 5 0 0 1 0 0 PPP3CB 5532 broad.mit.edu 37 10 75239252 75239252 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:75239252G>A uc001juf.3 - 1 244 c.109C>T c.(109-111)Cgc>Tgc p.R37C PPP3CB_uc001jue.3_Missense_Mutation_p.R37C|PPP3CB_uc001jug.3_Missense_Mutation_p.R37C|PPP3CB_uc001juh.2_5'UTR|PPP3CB_uc001jui.2_Missense_Mutation_p.R37C NM_001142353 NP_001135825 P16298 PP2BB_HUMAN Homo sapiens protein phosphatase 3, catalytic subunit, beta isozyme (PPP3CB), transcript variant 1, mRNA. 37 Catalytic. breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1) 22 Prostate(51;0.0119) GATGTCAAGCGATGTGTTGGG 0.358000 31 7 0 0 1 0 0 UBXN10 127733 broad.mit.edu 37 1 20517370 20517370 + Missense_Mutation SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:20517370G>T uc001bdb.3 + 1 400 c.316G>T c.(316-318)Ggg>Tgg p.G106W UBXN10_uc021oia.1_Missense_Mutation_p.G106W NM_152376 NP_689589 Q96LJ8 UBX10_HUMAN Homo sapiens UBX domain protein 10 (UBXN10), mRNA. 106 endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2) 14 AGTACCCACTGGGGCTTCCTC 0.527000 60 4 1 1 1 1 0 EPB41L4B 54566 broad.mit.edu 37 9 111938890 111938890 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:111938890C>T uc004bdz.1 - 24 2869 c.2574G>A c.(2572-2574)gaG>gaA p.E858E NM_019114 NP_061987 Q9H329 E41LB_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA. 858 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGGAGACGGTCTCTGTCAAAG 0.552000 38 5 0 0 1 0 0 PIP5KL1 138429 broad.mit.edu 37 9 130687489 130687489 + Missense_Mutation SNP G A A rs145403966 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:130687489G>A uc011mao.2 - 8 859 c.814C>T c.(814-816)Ctc>Ttc p.L272F PIP5KL1_uc004bsu.3_Missense_Mutation_p.L69F NM_001135219 NP_001128691 Q5T9C9 PI5L1_HUMAN Homo sapiens phosphatidylinositol-4-phosphate 5-kinase-like 1 (PIP5KL1), transcript variant 1, mRNA. 272 PIPK. cytoplasm|membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1) 8 AGCTCCCGGAGGAAGGTGGTA 0.642000 69 6 0 0 1 0 0 GRIN1 2902 broad.mit.edu 37 9 140034155 140034155 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:140034155C>T uc004clk.3 + 0 547 c.217C>T c.(217-219)Cag>Tag p.Q73* GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Nonsense_Mutation_p.Q70*|GRIN1_uc004cln.3_Nonsense_Mutation_p.Q73*|GRIN1_uc004clo.3_Nonsense_Mutation_p.Q73*|GRIN1_uc004clm.3_Nonsense_Mutation_p.Q73*|GRIN1_uc004cll.3_Nonsense_Mutation_p.Q73* NM_007327 NP_015566 Q05586 NMDZ1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA. 73 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CAACGCCATCCAGATGGCTCT 0.647000 64 5 0 0 1 0 0 KCNA3 3738 broad.mit.edu 37 1 111216458 111216458 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:111216458C>T uc001dzv.1 - 0 1198 c.974G>A c.(973-975)cGa>cAa p.R325Q NM_002232 NP_002223 P22001 KCNA3_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA. 325 voltage-gated potassium channel complex delayed rectifier potassium channel activity p.R325*(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) CATGATGTTTCGCGAGAAGGT 0.532000 88 12 0 0 1 0 0 SPANXE 171489 broad.mit.edu 37 X 140785745 140785745 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:140785745C>T uc004fbq.3 - 1 264 c.171G>A c.(169-171)agG>agA p.R57R NM_145665 NP_663698 Q8TAD1 SPNXE_HUMAN Homo sapiens SPANX family, member E (SPANXE), mRNA. 57 cytoplasm|nucleus Acute lymphoblastic leukemia(192;7.65e-05) TTTTAAAGTTCCTCCTGTAGC 0.483000 154 14 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48680201 48680201 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:48680201C>T uc002irk.1 + 19 4308 c.3936C>T c.(3934-3936)ctC>ctT p.L1312L CACNA1G_uc002iri.1_Silent_p.L1312L|CACNA1G_uc002irj.1_Silent_p.L1289L|CACNA1G_uc002irl.1_Silent_p.L1289L|CACNA1G_uc002irm.1_Silent_p.L1289L|CACNA1G_uc002irn.1_Silent_p.L1289L|CACNA1G_uc002iro.1_Silent_p.L1289L|CACNA1G_uc002irp.1_Silent_p.L1312L|CACNA1G_uc002irq.1_Silent_p.L1289L|CACNA1G_uc002irr.1_Silent_p.L1312L|CACNA1G_uc002irs.1_Silent_p.L1312L|CACNA1G_uc002irt.1_Silent_p.L1312L|CACNA1G_uc002iru.1_Silent_p.L1289L|CACNA1G_uc002irv.1_Silent_p.L1312L|CACNA1G_uc002irw.1_Silent_p.L1289L|CACNA1G_uc002irx.1_Silent_p.L1225L|CACNA1G_uc002iry.1_Silent_p.L1225L|CACNA1G_uc002isg.1_Silent_p.L1225L|CACNA1G_uc002ish.1_Silent_p.L1225L|CACNA1G_uc002isi.1_Silent_p.L1202L|CACNA1G_uc002irz.1_Silent_p.L1225L|CACNA1G_uc002isa.1_Silent_p.L1225L|CACNA1G_uc002isd.1_Silent_p.L1225L|CACNA1G_uc002isb.1_Silent_p.L1225L|CACNA1G_uc002isc.1_Silent_p.L1225L|CACNA1G_uc002ise.1_Silent_p.L1225L|CACNA1G_uc002isf.1_Silent_p.L1225L|CACNA1G_uc002isj.3_Silent_p.L36L NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 1312 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TCCTGACCCTCTCCAATTACA 0.587000 42 4 0 0 1 0 0 CLEC4E 26253 broad.mit.edu 37 12 8691854 8691854 + Missense_Mutation SNP G A A rs137962363 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:8691854G>A uc001quo.1 - 2 344 c.179C>T c.(178-180)cCt>cTt p.P60L NM_014358 NP_055173 Q9ULY5 CLC4E_HUMAN Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA. 60 integral to membrane sugar binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) GAAATTCTCAGGTAGCTGAAA 0.358000 123 11 0 0 1 0 0 C14orf37 145407 broad.mit.edu 37 14 58604994 58604994 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:58604994C>T uc010tro.2 - 2 1395 c.1197G>A c.(1195-1197)gaG>gaA p.E399E C14orf37_uc001xdc.3_Silent_p.E361E|C14orf37_uc001xdd.3_Silent_p.E361E|C14orf37_uc001xde.3_Silent_p.E361E NM_001001872 NP_001001872 Q86TY3 CN037_HUMAN Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA. 361 integral to membrane binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 CCTGTGCAGCCTCTGTCCAAG 0.552000 152 21 0 0 1 0 0 C7orf31 136895 broad.mit.edu 37 7 25175643 25175643 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:25175643G>A uc003sxn.1 - 9 2282 c.1721C>T c.(1720-1722)tCg>tTg p.S574L NM_138811 NP_620166 Q8N865 CG031_HUMAN Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA. 574 p.S574L(2) autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 CTTCATCCCCGAATGCTCATT 0.383000 66 8 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167218000 167218000 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:167218000A>T uc003fev.1 - 13 2220 c.1916T>A c.(1915-1917)tTt>tAt p.F639Y WDR49_uc003feu.1_Missense_Mutation_p.F464Y|WDR49_uc011bpd.1_Missense_Mutation_p.F604Y|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN Homo sapiens WD repeat domain 49 (WDR49), mRNA. 639 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 TTCTTTCCTAAAGTATTTCTC 0.438000 69 13 0 0 1 0 0 FAM214A 56204 broad.mit.edu 37 15 52897394 52897394 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:52897394G>A uc010ugf.2 - 5 2551 c.2417C>T c.(2416-2418)tCc>tTc p.S806F FAM214A_uc002acg.4_Missense_Mutation_p.S799F|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Missense_Mutation_p.S711F NM_019600 NP_062546 Q32MH5 K1370_HUMAN Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA. 799 TCCATCCAAGGAATGAAAATT 0.328000 85 6 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60042544 60042544 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:60042544G>A uc002izo.3 - 19 4744 c.4667C>T c.(4666-4668)cCt>cTt p.P1556L NM_005121 NP_005112 Q9UHV7 MED13_HUMAN Homo sapiens mediator complex subunit 13 (MED13), mRNA. 1556 Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TGGAAACGAAGGTAGTTTATT 0.428000 93 13 0 0 1 0 0 ERCC3 2071 broad.mit.edu 37 2 128028988 128028988 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:128028988G>A uc002toh.1 - 11 1964 c.1869C>T c.(1867-1869)ctC>ctT p.L623L ERCC3_uc002toe.1_Silent_p.L378L|ERCC3_uc002tof.1_Silent_p.L559L|ERCC3_uc002tog.1_Silent_p.L559L NM_000122 NP_000113 P19447 ERCC3_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA. 623 Helicase C-terminal. DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) AGATCTGAATGAGGACATTTG 0.453000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 135 17 0 0 1 0 0 SUSD4 55061 broad.mit.edu 37 1 223465962 223465962 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:223465962G>A uc001hnx.3 - 1 814 c.180C>T c.(178-180)ccC>ccT p.P60P SUSD4_uc001hny.4_Silent_p.P60P|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Silent_p.P60P|SUSD4_uc010pux.1_Intron NM_017982 NP_060452 Q5VX71 SUSD4_HUMAN Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA. 60 Sushi 1. integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) CGGGAATGCCGGGGTCAGCAC 0.517000 20 5 0 0 1 0 0 NAPRT1 93100 broad.mit.edu 37 8 144657673 144657673 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:144657673G>A uc003yyo.4 - 9 1236 c.1211C>T c.(1210-1212)cCa>cTa p.P404L C8orf73_uc010mff.3_5'Flank|C8orf73_uc010mfg.1_5'Flank|NAPRT1_uc003yym.4_Missense_Mutation_p.P404L|NAPRT1_uc003yyn.4_Missense_Mutation_p.P404L|NAPRT1_uc011lkh.2_Missense_Mutation_p.P404L Q6XQN6 PNCB_HUMAN Homo sapiens nicotinate phosphoribosyltransferase domain containing 1 (NAPRT1), mRNA. 404 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process Golgi apparatus|cytosol|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) CTTCATTCGTGGCTGGCCCCC 0.677000 36 6 0 0 1 0 0 PLRG1 5356 broad.mit.edu 37 4 155460287 155460287 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:155460287G>A uc003iny.3 - 11 1246 c.1121C>T c.(1120-1122)tCa>tTa p.S374L PLRG1_uc003inz.3_Missense_Mutation_p.S365L NM_002669 NP_002660 O43660 PLRG1_HUMAN Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA. 374 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1) 22 all_hematologic(180;0.215) Renal(120;0.0854) AGCCCTAACTGATTTTTTGTG 0.353000 21 4 0 0 1 0 0 KIFC2 90990 broad.mit.edu 37 8 145695010 145695010 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:145695010C>T uc003zcz.3 + 11 1425 c.1360C>T c.(1360-1362)Cca>Tca p.P454S KIFC2_uc003zda.3_5'Flank NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN Homo sapiens kinesin family member C2 (KIFC2), mRNA. 454 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GGTCTTCCCTCCAGACGCCAG 0.617000 68 13 0 0 1 0 0 OR4C13 283092 broad.mit.edu 37 11 49974457 49974457 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:49974457C>T uc010rhz.2 + 0 515 c.483C>T c.(481-483)atC>atT p.I161I NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA. 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 TCCTCTTCATCTGTCAATTAC 0.443000 34 7 0 0 1 0 0 GPR162 27239 broad.mit.edu 37 12 6939120 6939120 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:6939120G>A uc001qra.1 + 2 627 c.593G>A c.(592-594)cGa>cAa p.R198Q GPR162_uc001qrb.1_Missense_Mutation_p.R6Q|GPR162_uc001qqy.1_Missense_Mutation_p.R134Q NM_014262 NP_055077 Q16538 GP162_HUMAN Homo sapiens leprecan-like 2 (LEPREL2), mRNA. 0 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 AAGTACAGACGAATGTCGGGA 0.592000 74 5 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33484668 33484668 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:33484668C>T uc021vft.1 + 12 2432 c.2409C>T c.(2407-2409)ccC>ccT p.P803P LTBP1_uc002rou.3_Silent_p.P477P|LTBP1_uc002rov.3_Silent_p.P424P|LTBP1_uc010ymz.2_Silent_p.P477P|LTBP1_uc010yna.2_Silent_p.P424P NM_206943 NP_996826 Q14766 LTBP1_HUMAN Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA. 803 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CAACTGCACCCCCTGAAAAGG 0.289000 35 14 0 0 1 0 0 TRPC3 7222 broad.mit.edu 37 4 122853481 122853481 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:122853481G>A uc003ieg.2 - 1 1006 c.932C>T c.(931-933)gCc>gTc p.A311V TRPC3_uc010inr.2_Missense_Mutation_p.A238V|TRPC3_uc003ief.2_Missense_Mutation_p.A238V|TRPC3_uc011cgl.1_5'UTR NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA. 226 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity p.K310N(1) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GAGCTCTAGGGCCGTAAGCAC 0.597000 21 4 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76486467 76486467 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:76486467G>A uc002fex.1 + 6 1282 c.1143G>A c.(1141-1143)agG>agA p.R381R CNTNAP4_uc002feu.1_Silent_p.R377R|CNTNAP4_uc002fev.1_Silent_p.R242R|CNTNAP4_uc010chb.1_Silent_p.R305R|CNTNAP4_uc002few.2_Silent_p.R353R NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 378 cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TGAGCTCCAGGAGTTATTTAG 0.418000 63 7 0 0 1 0 0 PAX3 5077 broad.mit.edu 37 2 223086039 223086039 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:223086039T>C uc010fwo.3 - 5 1241 c.860A>G c.(859-861)aAc>aGc p.N287S PAX3_uc002vmt.2_Missense_Mutation_p.N287S|PAX3_uc002vmy.2_Missense_Mutation_p.N286S|PAX3_uc002vmv.2_Missense_Mutation_p.N287S|PAX3_uc002vmw.2_Missense_Mutation_p.N287S|PAX3_uc002vmx.2_Missense_Mutation_p.N287S NM_181457 NP_852122 P23760 PAX3_HUMAN Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA. 287 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AATGAGATGGTTGAAAGCCAT 0.507000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 29 4 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 147744125 147744125 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:147744125G>A uc004fcp.3 + 2 1356 c.877G>A c.(877-879)Gat>Aat p.D293N AFF2_uc004fco.3_Missense_Mutation_p.D289N|AFF2_uc004fcq.3_Missense_Mutation_p.D289N|AFF2_uc004fcr.3_Missense_Mutation_p.D289N|AFF2_uc011mxb.2_Missense_Mutation_p.D293N|AFF2_uc004fcs.3_Missense_Mutation_p.D289N NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 293 RNA splicing|brain development|mRNA processing|regulation of RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CAGACCCATGGATGGCCAGGA 0.493000 36 4 0 0 1 0 0 BC034827 0 broad.mit.edu 37 8 26237320 26237320 + RNA SNP G C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:26237320G>C uc003xew.3 - 1 c.2629C>G Homo sapiens cDNA clone IMAGE:4826633. CTTAAAACTCGACTGGTGCTG 0.463000 34 6 0 0 1 0 0 AOC2 314 broad.mit.edu 37 17 40997973 40997973 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:40997973C>T uc002ibu.3 + 0 1365 c.1330C>T c.(1330-1332)Cat>Tat p.H444Y AOC2_uc002ibt.3_Missense_Mutation_p.H444Y NM_009590 NP_033720 O75106 AOC2_HUMAN Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA. 444 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) CCTTCAAAATCATTTCTATGG 0.517000 59 5 0 0 1 0 0 MSH3 4437 broad.mit.edu 37 5 80021296 80021296 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:80021296C>T uc003kgz.3 + 8 1618 c.1365C>T c.(1363-1365)gtC>gtT p.V455V NM_002439 NP_002430 P20585 MSH3_HUMAN Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA. 455 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) GAATTCGAGTCGAAAGGATGG 0.343000 Mismatch excision repair (MMR) 29 4 0 0 1 0 0 OR5M10 390167 broad.mit.edu 37 11 56344324 56344324 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:56344324G>A uc001niz.1 - 0 874 c.874C>T c.(874-876)Cta>Tta p.L292L OR8U8_uc001nit.2_Intron NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA. 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 CTGTTCCGTAGGCTATAGATC 0.388000 174 15 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8418589 8418589 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:8418589G>A uc001ape.3 - 20 4816 c.4006C>T c.(4006-4008)Ccc>Tcc p.P1336S RERE_uc001apf.3_Missense_Mutation_p.P1336S|RERE_uc001apd.3_Missense_Mutation_p.P782S NM_012102 NP_036234 Q9P2R6 RERE_HUMAN Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA. 1336 NLS-bearing substrate import into nucleus|multicellular organismal development mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GGGTGCAGGGGGTCCAGCTCT 0.697000 25 5 0 0 1 0 0 SERPINE1 5054 broad.mit.edu 37 7 100777017 100777017 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:100777017G>A uc003uxt.3 + 4 890 c.742G>A c.(742-744)Gaa>Aaa p.E248K SERPINE1_uc011kkj.2_Missense_Mutation_p.E233K|SERPINE1_uc003uxu.2_Missense_Mutation_p.E79K NM_000602 NP_000593 P05121 PAI1_HUMAN Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA. 248 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) CGACATCCTGGAACTGCCCTA 0.552000 60 5 0 0 1 0 0 RPLP0P2 113157 broad.mit.edu 37 11 61404484 61404485 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:61404484_61404485CC>TT uc001nrz.1 + 4 1088_1089 c.333_334CC>TT c.(331-336)acccgt>acTTgt p.R112C Homo sapiens ribosomal protein, large, P0 pseudogene 2 (RPLP0P2), non-coding RNA. CAGCTGCCACCCGTGCTGGTGC 0.559000 17 3 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20618814 20618814 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:20618814G>A uc003gpr.1 + 34 4333 c.4129G>A c.(4129-4131)Gga>Aga p.G1377R SLIT2_uc003gps.1_Missense_Mutation_p.G1369R NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 1377 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CCCTTGCCTTGGAAATAAGTA 0.567000 40 7 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133036805 133036805 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:133036805C>T uc003ytg.2 - 12 1357 c.1357G>A c.(1357-1359)Gag>Aag p.E453K OC90_uc011lix.1_Missense_Mutation_p.E453K NM_001080399 NP_001073868 Q02509 OC90_HUMAN Homo sapiens otoconin 90 (OC90), mRNA. 469 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) CCGAGGTCCTCCTGTGGAGGG 0.622000 24 4 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134670819 134670820 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:134670819_134670820GG>AA uc003eqt.3 + 2 1105_1106 c.730_731GG>AA c.(730-732)ggg>AAg p.G244K EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Intron NM_004441 NP_004432 P54762 EPHB1_HUMAN Homo sapiens EPH receptor B1 (EPHB1), mRNA. 244 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CAACGGGGATGGGGAATGGATG 0.579000 117 8 0 0 1 0 0 SLC12A2 6558 broad.mit.edu 37 5 127477568 127477568 + Silent SNP C T T rs111727169 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:127477568C>T uc003kus.3 + 9 1832 c.1668C>T c.(1666-1668)atC>atT p.I556I SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Silent_p.I556I NM_001046 NP_001037 P55011 S12A2_HUMAN Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA. 556 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity p.I556I(2) breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) ATGACACTATCGTAACAGAGC 0.363000 33 4 0 0 1 0 0 SPATC1 375686 broad.mit.edu 37 8 145095065 145095065 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:145095065C>T uc011lkw.2 + 1 569 c.467C>T c.(466-468)tCc>tTc p.S156F SPATC1_uc011lkx.2_Missense_Mutation_p.S156F NM_198572 NP_940974 Q76KD6 SPERI_HUMAN Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA. 156 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTGGCCAGTTCCCTGGGCCTG 0.672000 3 4 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9067646 9067647 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9067646_9067647GG>AA uc002mkp.3 - 2 20003_20004 c.19799_19800CC>TT c.(19798-19800)acc>aTT p.T6600I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6602 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T6599T(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTCAGAAGTGGTGGTCCCCAC 0.441000 67 18 0 0 1 0 0 ADCK4 79934 broad.mit.edu 37 19 41220227 41220227 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:41220227G>A uc002oor.2 - 2 480 c.178C>T c.(178-180)Cgc>Tgc p.R60C ADCK4_uc002ooq.2_Missense_Mutation_p.R60C|ADCK4_uc002oos.2_Missense_Mutation_p.R60C|ITPKC_uc002oot.3_5'Flank NM_024876 NP_079152 Q96D53 ADCK4_HUMAN Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA. 60 integral to membrane protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) CGTGCCCTGCGAATGTCCTCC 0.602000 56 12 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79973140 79973141 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:79973140_79973141GG>AA uc004edt.3 - 18 2425_2426 c.2162_2163CC>TT c.(2161-2163)gcc>gTT p.A721V BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.A550V|BRWD3_uc004edq.3_Missense_Mutation_p.A317V|BRWD3_uc010nmj.2_Missense_Mutation_p.A317V|BRWD3_uc004edr.3_Missense_Mutation_p.A391V|BRWD3_uc004eds.3_Missense_Mutation_p.A317V|BRWD3_uc004edo.3_Missense_Mutation_p.A317V|BRWD3_uc004edu.3_Missense_Mutation_p.A391V|BRWD3_uc004edv.3_Missense_Mutation_p.A317V|BRWD3_uc004edw.3_Missense_Mutation_p.A317V|BRWD3_uc004edx.3_Missense_Mutation_p.A317V|BRWD3_uc004edy.3_Missense_Mutation_p.A317V|BRWD3_uc004edz.3_Missense_Mutation_p.A391V|BRWD3_uc004eea.3_Missense_Mutation_p.A391V|BRWD3_uc004eeb.3_Missense_Mutation_p.A317V NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA. 721 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 CTCTTTCAGTGGCCATCTGGCT 0.411000 36 20 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174684 51174684 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:51174684C>T uc021tif.1 - 1 1480 c.1158G>A c.(1156-1158)ggG>ggA p.G386G SALL1_uc021tid.1_Silent_p.G386G|SALL1_uc021tie.1_Silent_p.G483G|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 483 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AGAACCTGTTCCCGCAGATGT 0.522000 81 13 0 0 1 0 0 LGI2 55203 broad.mit.edu 37 4 25005663 25005663 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:25005663G>A uc003grf.2 - 7 1147 c.1048C>T c.(1048-1050)Ctg>Ttg p.L350L NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA. 350 extracellular region p.L350L(2) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) ACTGTGGACAGACCAGCCTTT 0.478000 29 6 0 0 1 0 0 CNOT4 4850 broad.mit.edu 37 7 135073606 135073606 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:135073606G>A uc003vsv.2 - 10 1999 c.1668C>T c.(1666-1668)acC>acT p.T556T CNOT4_uc011kpy.2_Intron|CNOT4_uc011kpz.2_Intron|CNOT4_uc003vst.3_Intron|CNOT4_uc003vss.3_Intron|CNOT4_uc003vsu.2_Silent_p.T553T NM_001190848 NP_001177777 O95628 CNOT4_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA. 556 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 AATGGGAAGAGGTTGACAGTG 0.473000 47 4 0 0 1 0 0 OR51F2 119694 broad.mit.edu 37 11 4843134 4843134 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:4843134C>T uc010qyn.2 + 0 519 c.519C>T c.(517-519)gtC>gtT p.V173V NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA. 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TGTTGCCAGTCATGCTCTTTG 0.443000 88 6 0 0 1 0 0 COX8A 1351 broad.mit.edu 37 11 63743713 63743713 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:63743713T>C uc001nye.3 + 1 205 c.131T>C c.(130-132)cTt>cCt p.L44P NM_004074 NP_004065 P10176 COX8A_HUMAN Homo sapiens cytochrome c oxidase subunit VIIIA (ubiquitous) (COX8A), mRNA. 44 respiratory electron transport chain integral to membrane|mitochondrial inner membrane cytochrome-c oxidase activity GCCGTTGGGCTTACCTCCTGC 0.572000 177 22 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109696104 109696104 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:109696104G>A uc004eor.2 + 2 2505 c.2259G>A c.(2257-2259)gtG>gtA p.V753V RGAG1_uc011msr.1_Silent_p.V753V NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA. 753 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 CCTCTGATGTGATGTCCACAC 0.542000 30 11 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9066073 9066073 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9066073G>A uc002mkp.3 - 2 21577 c.21373C>T c.(21373-21375)Cct>Tct p.P7125S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7127 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAAGTCACAGGAAGAGGAGAG 0.517000 27 9 0 0 1 0 0 SERPINC1 462 broad.mit.edu 37 1 173881128 173881128 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:173881128C>T uc001gjt.3 - 2 552 c.433G>A c.(433-435)Gag>Aag p.E145K NM_000488 NP_000479 P01008 ANT3_HUMAN Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA. 145 blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1) 25 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) GATGTTTTCTCAGATATGGTG 0.433000 44 9 0 0 1 0 0 FGF23 8074 broad.mit.edu 37 12 4479941 4479941 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:4479941G>A uc001qmq.1 - 2 470 c.324C>T c.(322-324)ttC>ttT p.F108F NM_020638 NP_065689 Q9GZV9 FGF23_HUMAN Homo sapiens fibroblast growth factor 23 (FGF23), mRNA. 108 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity p.F108F(2) NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) TCTCCGGGTCGAAATAGTGCT 0.617000 69 12 0 0 1 0 0 CCBP2 1238 broad.mit.edu 37 3 42906917 42906917 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:42906917C>T uc003cme.3 + 2 1101 c.923C>T c.(922-924)tCc>tTc p.S308F CCBP2_uc003cmf.3_Missense_Mutation_p.S308F|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Missense_Mutation_p.S308F NM_001296 NP_001287 O00590 CCBP2_HUMAN Homo sapiens chemokine binding protein 2 (CCBP2), mRNA. 308 chemotaxis|immune response|multicellular organismal development integral to plasma membrane C-X-C chemokine receptor activity p.S308F(2) NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1) 26 KIRC - Kidney renal clear cell carcinoma(284;0.241) TGCTGCTTTTCCCCCATCCTG 0.577000 108 6 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238245121 238245121 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:238245121C>T uc002vwl.2 - 39 8907 c.8622G>A c.(8620-8622)acG>acA p.T2874T COL6A3_uc002vwo.2_Silent_p.T2668T|COL6A3_uc010znj.1_Silent_p.T2267T|COL6A3_uc002vwj.2_Silent_p.T255T NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 2874 Nonhelical region.|Thr-rich. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TCACCGGCTTCGTTGTCGTCA 0.433000 133 15 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124756538 124756538 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:124756538G>A uc001qbg.3 - 15 2756 c.2616C>T c.(2614-2616)tcC>tcT p.S872S ROBO4_uc010sas.2_Silent_p.S727S|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.3_Silent_p.S430S NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA. 872 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CATTGGCTAAGGAGCCCTCGC 0.667000 25 7 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234854546 234854546 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:234854546C>T uc002vvh.3 + 6 786 c.746C>T c.(745-747)cCa>cTa p.P249L TRPM8_uc010fyj.3_5'UTR NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA. 249 integral to membrane p.P249P(1) breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) ACAAGAGATCCACTGTATATC 0.438000 73 8 0 0 1 0 0 GABRR1 2569 broad.mit.edu 37 6 89910949 89910949 + Missense_Mutation SNP G A A rs143197057 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:89910949G>A uc003pna.2 - 2 664 c.209C>T c.(208-210)tCg>tTg p.S70L GABRR1_uc011dzv.1_Missense_Mutation_p.S47L NM_002042 NP_002033 P24046 GBRR1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA. 70 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity p.S69T(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) TGTCAGAGGCGATTTGGTGAT 0.478000 85 6 0 0 1 0 0 OR4B1 119765 broad.mit.edu 37 11 48238638 48238638 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:48238638G>A uc010rhs.2 + 0 277 c.277G>A c.(277-279)Gaa>Aaa p.E93K NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA. 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 CATCTCTCTGGAAGGCTGTCT 0.448000 46 7 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136573491 136573491 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:136573491G>A uc004cep.4 - 10 1522 c.1388C>T c.(1387-1389)tCc>tTc p.S463F SARDH_uc004ceo.3_Missense_Mutation_p.S463F|SARDH_uc011mdo.2_Missense_Mutation_p.S295F|SARDH_uc011mdn.2_Missense_Mutation_p.S463F NM_001134707 NP_009032 Q9UL12 SARDH_HUMAN Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 463 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity p.E462Q(1) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) CTTGGCGTAGGACTCATGGCT 0.652000 73 15 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814328 137814328 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:137814328G>A uc002tva.1 + 1 385 c.385G>A c.(385-387)Gaa>Aaa p.E129K THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.E19K NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TGAAATATGCGAACACTTTGC 0.517000 69 15 0 0 1 0 0 LMNB2 84823 broad.mit.edu 37 19 2434083 2434083 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:2434083G>A uc002lvy.3 - 7 1250 c.1163C>T c.(1162-1164)cCa>cTa p.P388L NM_032737 NP_116126 Q03252 LMNB2_HUMAN Homo sapiens lamin B2 (LMNB2), mRNA. 388 Tail. nuclear inner membrane structural molecule activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGCGAGGATGGGCTGGGGGA 0.706000 43 4 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48264261 48264261 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:48264261G>A uc002iqm.3 - 47 3680 c.3554C>T c.(3553-3555)cCt>cTt p.P1185L NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 1185 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GGGACCAGGAGGTCCAGGAGG 0.647000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 32 10 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149129129 149129129 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:149129129G>A uc003wfv.3 - 5 2397 c.2234C>T c.(2233-2235)tCg>tTg p.S745L NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN Homo sapiens zinc finger protein 777 (ZNF777), mRNA. 745 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CCGCTCGCGCGAGTGCACGCG 0.672000 80 5 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154395958 154395958 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:154395958G>A uc010jih.1 + 0 2699 c.2539G>A c.(2539-2541)Gaa>Aaa p.E847K NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 847 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGCAGAAAGTGAAGATAGGCC 0.438000 30 5 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113299452 113299452 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:113299452C>T uc003ynu.3 - 57 9331 c.9172G>A c.(9172-9174)Gat>Aat p.D3058N CSMD3_uc003yns.3_Missense_Mutation_p.D2260N|CSMD3_uc003ynt.3_Missense_Mutation_p.D3018N|CSMD3_uc011lhx.2_Missense_Mutation_p.D2889N NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 3058 Sushi 22. integral to membrane|plasma membrane p.D3058N(2) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTACCTGGATCGCCACATGTC 0.443000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 3 0 0 1 0 0 ARMC1 55156 broad.mit.edu 37 8 66534583 66534583 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:66534583G>A uc003xvl.3 - 2 445 c.190C>T c.(190-192)Cga>Tga p.R64* ARMC1_uc011leo.2_Missense_Mutation_p.S25L NM_018120 NP_060590 Q9NVT9 ARMC1_HUMAN Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA. 64 metal ion transport metal ion binding cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1) 14 Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235) GCCAAGTATCGAAGAGCCTAC 0.353000 74 7 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167133742 167133742 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:167133742G>A uc010fpl.3 - 15 2933 c.2592C>T c.(2590-2592)atC>atT p.I864I BC051759_uc002udp.3_Non-coding_Transcript NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 875 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TGAAGACGATGATGGCCAACA 0.463000 35 4 0 0 1 0 0 ETV6 2120 broad.mit.edu 37 12 12022498 12022498 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:12022498C>T uc001qzz.3 + 4 878 c.604C>T c.(604-606)Cgg>Tgg p.R202W ETV6_uc001raa.1_5'UTR NM_001987 NP_001978 P41212 ETV6_HUMAN Homo sapiens ets variant 6 (ETV6), mRNA. 202 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L201P(1) ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) GCGGCCCCTCCGGTCCCCCCT 0.632000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 154 9 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60757548 60757548 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:60757548C>T uc002jad.3 + 14 2718 c.2316C>T c.(2314-2316)ttC>ttT p.F772F MRC2_uc010ddq.1_Non-coding_Transcript|MRC2_uc002jae.3_5'Flank|MRC2_uc002jaf.3_5'Flank NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN Homo sapiens mannose receptor, C type 2 (MRC2), mRNA. 772 C-type lectin 4. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 ACCACAATTTCGACCGGAGCC 0.647000 55 6 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111156230 111156230 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:111156230G>A uc001vqx.3 + 43 4464 c.4175G>A c.(4174-4176)gGa>gAa p.G1392E NM_001846 NP_001837 P08572 CO4A2_HUMAN Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA. 1392 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGGATTGCAGGAATCCCCCAG 0.682000 45 7 0 0 1 0 0 KRT13 3860 broad.mit.edu 37 17 39661323 39661323 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39661323T>G uc002hwu.1 - 0 543 c.480A>C c.(478-480)gaA>gaC p.E160D KRT13_uc002hwv.1_Missense_Mutation_p.E160D|KRT13_uc010wfr.2_Missense_Mutation_p.E53D|KRT13_uc010cxo.3_Missense_Mutation_p.E160D|KRT13_uc021txk.1_Missense_Mutation_p.E53D NM_153490 NP_705694 P13646 K1C13_HUMAN Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA. 160 Coil 1B.|Rod. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) CCCGGAGCTCTTCAATGGTCT 0.592000 35 5 0 0 1 0 0 NR5A2 2494 broad.mit.edu 37 1 200017564 200017564 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:200017564C>T uc001gvb.3 + 4 934 c.728C>T c.(727-729)tCc>tTc p.S243F NR5A2_uc001gvc.3_Missense_Mutation_p.S197F|NR5A2_uc009wzh.3_Missense_Mutation_p.S203F|NR5A2_uc010pph.2_Missense_Mutation_p.S171F NM_205860 NP_995582 O00482 NR5A2_HUMAN Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA. 243 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) TTTGTAACATCCCCCATTAGC 0.527000 80 12 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20986562 20986562 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:20986562C>T uc010vbe.2 - 50 8252 c.8252G>A c.(8251-8253)gGa>gAa p.G2751E DNAH3_uc010vbd.2_Missense_Mutation_p.G186E NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2751 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TACCTTGATTCCTTGGGCAAT 0.473000 147 19 0 0 1 0 0 PLD3 23646 broad.mit.edu 37 19 40883698 40883698 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:40883698C>T uc002onm.4 + 11 1589 c.1191C>T c.(1189-1191)ctC>ctT p.L397L PLD3_uc002onj.4_Silent_p.L397L|PLD3_uc002onn.3_Silent_p.L397L NM_001031696 NP_036400 Q8IV08 PLD3_HUMAN Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA. 397 lipid catabolic process endoplasmic reticulum membrane|integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248) CTCAGAAACTCTTTGTGGTCC 0.602000 34 4 0 0 1 0 0 OPCML 4978 broad.mit.edu 37 11 132527177 132527177 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:132527177G>A uc010sck.2 - 1 255 c.205C>T c.(205-207)Cta>Tta p.L69L OPCML_uc001qgu.3_Silent_p.L62L|OPCML_uc001qgs.3_Silent_p.L69L|OPCML_uc001qgt.3_Silent_p.L69L|OPCML_uc010scl.2_Silent_p.L28L NM_002545 NP_002536 Q14982 OPCM_HUMAN Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA. 69 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) CTGCGGTTTAGCCAGGCCACC 0.537000 31 6 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61601593 61601593 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:61601593T>A uc002jay.3 + 1 250 c.170T>A c.(169-171)gTg>gAg p.V57E KCNH6_uc002jax.1_Missense_Mutation_p.V57E|KCNH6_uc010wpl.2_5'UTR|KCNH6_uc010wpm.2_Missense_Mutation_p.V57E|KCNH6_uc002jaz.1_Missense_Mutation_p.V57E NM_030779 NP_110406 Q9H252 KCNH6_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA. 57 PAS. regulation of transcription, DNA-dependent|signal transduction p.R56R(1) breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) TACTCCCGAGTGGAGGTGATG 0.612000 164 10 0 0 1 0 0 CCDC135 84229 broad.mit.edu 37 16 57752293 57752293 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:57752293G>A uc002emi.3 + 7 1201 c.1112G>A c.(1111-1113)tGg>tAg p.W371* CCDC135_uc002emj.3_Nonsense_Mutation_p.W371*|CCDC135_uc002emk.3_Nonsense_Mutation_p.W306* NM_032269 NP_115645 Q8IY82 CC135_HUMAN Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA. 371 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 CCTGTGAGATGGGAGTACATG 0.527000 133 11 0 0 1 0 0 LCE3A 353142 broad.mit.edu 37 1 152595469 152595469 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152595469C>T uc010pdt.2 - 0 111 c.111G>A c.(109-111)ggG>ggA p.G37G NM_178431 NP_848518 Q5TA76 LCE3A_HUMAN Homo sapiens late cornified envelope 3A (LCE3A), mRNA. 37 keratinization endometrium(1)|lung(5) 6 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCCCACAGCCCCCAGAGCTTG 0.652000 57 7 0 0 1 0 0 LARP1 23367 broad.mit.edu 37 5 154179196 154179196 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:154179196C>T uc003lvo.3 + 8 1216 c.1192C>T c.(1192-1194)Cgt>Tgt p.R398C LARP1_uc021ygh.1_Missense_Mutation_p.R270C|LARP1_uc021ygi.1_Missense_Mutation_p.R475C|LARP1_uc010jie.1_Missense_Mutation_p.R270C NM_015315 NP_056130 Q6PKG0 LARP1_HUMAN Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA. 475 HTH La-type RNA-binding. RNA binding|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGAGAAAGTTCGTAGGAGGGA 0.483000 71 21 0 0 1 0 0 CP 1356 broad.mit.edu 37 3 148919985 148919985 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:148919985C>T uc003ewy.4 - 6 1505 c.1252G>A c.(1252-1254)Ggc>Agc p.G418S CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.G199S|CP_uc003ewz.3_Missense_Mutation_p.G418S|CP_uc010hvf.1_Missense_Mutation_p.G144S NM_000096 NP_000087 P00450 CERU_HUMAN Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA. 418 F5/8 type A 2.|Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) TTATAAGAGCCTCCAATTCTT 0.453000 58 4 0 0 1 0 0 SIK1 150094 broad.mit.edu 37 21 44841184 44841184 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:44841184G>A uc002zdf.2 - 5 690 c.563C>T c.(562-564)cCg>cTg p.P188L NM_173354 NP_775490 P57059 SIK1_HUMAN Homo sapiens salt-inducible kinase 1 (SIK1), mRNA. 188 Protein kinase. anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 GGCGGCATACGGGGGGCTCCC 0.587000 84 8 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768061 31768061 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:31768061C>T uc002nsy.4 - 1 2703 c.2638G>A c.(2638-2640)Gag>Aag p.E880K NM_020856 NP_065907 Q63HK5 TSH3_HUMAN Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA. 880 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TCAGCCTCCTCCAGAGTGGCC 0.582000 38 9 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23855815 23855815 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:23855815C>T uc001wjv.3 - 32 4739 c.4668G>A c.(4666-4668)gaG>gaA p.E1556E NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 1556 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TCTTGCCCTCCTCGTGCTCCA 0.632000 145 12 0 0 1 0 0 IPW 3653 broad.mit.edu 37 15 25331747 25331747 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:25331747C>T uc001yyb.4 + 2 c.356C>T IPW_uc001yxh.1_Intron|IPW_uc001yxm.1_Intron|IPW_uc001yxn.4_Intron|IPW_uc001yxy.3_Intron|IPW_uc001yyd.3_Intron|IPW_uc001yye.1_Non-coding_Transcript|SNORD116-20_uc001yyf.3_5'Flank Homo sapiens imprinted in Prader-Willi syndrome (non-protein coding) (IPW), non-coding RNA. ATACCGTCATCCTCGTCGAAC 0.468000 69 10 0 0 1 0 0 HNRNPL 3191 broad.mit.edu 37 19 39338017 39338017 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:39338017G>A uc021uuh.1 - 1 336 c.325C>T c.(325-327)Ctg>Ttg p.L109L HNRNPL_uc021uui.1_5'UTR NM_001533 NP_001005335 P14866 HNRPL_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA. 109 RRM 1. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding p.L109L(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) CCGTCAATCAGGCCCCTGATG 0.522000 67 4 0 0 1 0 0 GCKR 2646 broad.mit.edu 37 2 27730641 27730641 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:27730641G>A uc002rky.3 + 13 1303 c.1237G>A c.(1237-1239)Gat>Aat p.D413N GCKR_uc010ezd.3_Missense_Mutation_p.D411N|GCKR_uc010ylu.2_Missense_Mutation_p.D223N NM_001486 NP_001477 Q14397 GCKR_HUMAN Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA. 413 SIS 2. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) TTTCACCCTGGATGGTGAGAG 0.542000 34 26 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11111118 11111118 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:11111118G>A uc003jfa.1 - 13 2460 c.2315C>T c.(2314-2316)tCg>tTg p.S772L CTNND2_uc010itt.2_Missense_Mutation_p.S681L|CTNND2_uc011cmy.1_Missense_Mutation_p.S435L|CTNND2_uc011cmz.1_Missense_Mutation_p.S339L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.S339L NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 772 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CAGCCGGTACGAGAGGTTCCT 0.537000 94 10 0 0 1 0 0 APLP2 334 broad.mit.edu 37 11 129999953 129999953 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:129999953C>T uc010sby.2 + 10 1633 c.1476C>T c.(1474-1476)gcC>gcT p.A492A APLP2_uc001qfp.3_Silent_p.A492A|APLP2_uc001qfq.3_Silent_p.A436A|APLP2_uc010sbz.2_Silent_p.A280A|APLP2_uc001qfr.3_Silent_p.A258A|APLP2_uc001qfs.3_Silent_p.A263A|APLP2_uc021qsg.1_Silent_p.A502A|APLP2_uc001qfv.3_Silent_p.A383A NM_001642 NP_001633 Q06481 APLP2_HUMAN Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA. 492 G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) TTCTCCAGGCCTTACGGCGTT 0.448000 68 12 0 0 1 0 0 POFUT2 23275 broad.mit.edu 37 21 46705836 46705836 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:46705836G>A uc002zhc.3 - 1 164 c.139C>T c.(139-141)Ctg>Ttg p.L47L POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_Silent_p.L47L|POFUT2_uc011afp.1_Silent_p.L47L|POFUT2_uc011afq.1_Silent_p.L47L|LOC642852_uc002zhf.3_5'Flank NM_133635 NP_598368 Q9Y2G5 OFUT2_HUMAN Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA. 47 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity p.L46V(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(79;0.243) ACGTCATACAGAAGATACCTG 0.562000 87 6 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52556155 52556155 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:52556155G>A uc003dej.3 + 58 6448 c.6374G>A c.(6373-6375)gGt>gAt p.G2125D STAB1_uc003dek.1_Missense_Mutation_p.G140D|STAB1_uc003del.3_Missense_Mutation_p.G12D NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 2125 EGF-like 15. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GACTACGAGGGTGATGGCTGG 0.662000 48 6 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121980581 121980581 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:121980581G>A uc003eew.4 + 3 1137 c.699G>A c.(697-699)agG>agA p.R233R CASR_uc003eev.4_Silent_p.R233R NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 233 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CTGAGGAAAGGGATATCTGCA 0.502000 136 6 0 0 1 0 0 KRT16 3868 broad.mit.edu 37 17 39767630 39767630 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39767630C>T uc002hxg.4 - 2 877 c.738G>A c.(736-738)gaG>gaA p.E246E JUP_uc010wfs.2_Intron NM_005557 NP_005548 P08779 K1C16_HUMAN Homo sapiens keratin 16 (KRT16), mRNA. 246 Coil 1B.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) AGGCCAGCTCCTCCTTCAGGC 0.647000 64 4 0 0 1 0 0 GLCE 26035 broad.mit.edu 37 15 69561393 69561393 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:69561393G>A uc002ary.1 + 4 1892 c.1664G>A c.(1663-1665)gGc>gAc p.G555D NM_015554 NP_056369 O94923 GLCE_HUMAN Homo sapiens glucuronic acid epimerase (GLCE), mRNA. 555 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 TATGACACTGGCTCAGGAACC 0.488000 55 7 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47390724 47390724 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:47390724T>A uc002leb.2 - 27 3918 c.3630A>T c.(3628-3630)aaA>aaT p.K1210N MYO5B_uc002lea.2_Missense_Mutation_p.K351N NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 1210 protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TCTTCAGCTTTTTGTTCTCTG 0.592000 154 36 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12557622 12557622 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12557622C>T uc001atv.3 + 67 12872 c.12731C>T c.(12730-12732)tCt>tTt p.S4244F VPS13D_uc001atw.3_Missense_Mutation_p.S4219F|VPS13D_uc001atx.3_Missense_Mutation_p.S3431F|VPS13D_uc009vnl.3_Non-coding_Transcript|VPS13D_uc010obd.2_Missense_Mutation_p.S242F NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 4243 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CCCCGATATTCTGAGAGCCAG 0.542000 55 21 0 0 1 0 0 EIF2C3 192669 broad.mit.edu 37 1 36509116 36509116 + Silent SNP C T T rs145947091 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:36509116C>T uc001bzp.3 + 16 2586 c.2241C>T c.(2239-2241)ttC>ttT p.F747F EIF2C3_uc001bzq.3_Silent_p.F513F NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA. 747 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol RNA binding|protein binding p.F747F(2) NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4) 33 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CATATGAGTTCGATTTTTACC 0.348000 40 4 0 0 1 0 0 GAA 2548 broad.mit.edu 37 17 78081398 78081398 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:78081398C>T uc002jxp.3 + 3 1102 c.735C>T c.(733-735)ttC>ttT p.F245F GAA_uc002jxo.3_Silent_p.F245F|GAA_uc002jxq.3_Silent_p.F245F NM_000152 NP_001073272 P10253 LYAG_HUMAN Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA. 245 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) CGGACCAGTTCCTTCAGCTGT 0.637000 137 24 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573155 140573155 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140573155C>T uc003lix.3 + 0 1204 c.1030C>T c.(1030-1032)Ccc>Tcc p.P344S NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN Homo sapiens protocadherin beta 10 (PCDHB10), mRNA. 344 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAATGACAATCCCCCTGAACT 0.418000 72 7 0 0 1 0 0 IRAK2 3656 broad.mit.edu 37 3 10283842 10283842 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:10283842G>A uc003bve.1 + 12 1884 c.1808G>A c.(1807-1809)aGg>aAg p.R603K NM_001570 NP_001561 O43187 IRAK2_HUMAN Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA. 603 I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 GAGGCCAAAAGGAAACTGATG 0.418000 60 4 0 0 1 0 0 SLC22A1 6580 broad.mit.edu 37 6 160557581 160557581 + Silent SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:160557581T>A uc003qtc.3 + 5 1065 c.960T>A c.(958-960)ctT>ctA p.L320L SLC22A1_uc003qtd.3_Silent_p.L320L NM_003057 NP_003048 O15245 S22A1_HUMAN Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA. 320 basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding SLC22A1/CUTA(2) breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1) 21 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) CCTAGATGCTTTCCCTCGAAG 0.597000 94 5 0 0 1 0 0 MPEG1 219972 broad.mit.edu 37 11 58978900 58978900 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:58978900C>T uc001nnu.4 - 0 1595 c.1439G>A c.(1438-1440)gGg>gAg p.G480E NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN Homo sapiens macrophage expressed 1 (MPEG1), mRNA. 480 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) GAAGAGGCCCCCAAAAAGCAG 0.493000 83 9 0 0 1 0 0 FAM167A 83648 broad.mit.edu 37 8 11282031 11282031 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:11282031C>T uc010lry.1 - 2 1116 c.496G>A c.(496-498)Gat>Aat p.D166N TDH_uc003wtu.2_Intron|TDH_uc003wtv.2_Intron|FAM167A_uc003wtw.2_Missense_Mutation_p.D166N NM_053279 NP_444509 Q96KS9 F167A_HUMAN Homo sapiens family with sequence similarity 167, member A (FAM167A), mRNA. 166 breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1) 9 TAGGTGGCATCGTTGAGCATC 0.592000 73 9 0 0 1 0 0 FOSL2 2355 broad.mit.edu 37 2 28634950 28634950 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:28634950C>T uc002rma.3 + 3 1425 c.616C>T c.(616-618)Ctg>Ttg p.L206L FOSL2_uc021vfg.1_Silent_p.L198L|FOSL2_uc010ymi.2_Silent_p.L167L NM_005253 NP_005244 P15408 FOSL2_HUMAN Homo sapiens FOS-like antigen 2 (FOSL2), mRNA. 206 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L206M(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) AGCCCCTGGGCTGCAGCCCAT 0.667000 55 26 0 0 1 0 0 FLJ00322 0 broad.mit.edu 37 16 15023266 15023266 + Missense_Mutation SNP C G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:15023266C>G uc010uzk.2 + 5 1111 c.835C>G c.(835-837)Ctg>Gtg p.L279V NPIP_uc002dcx.4_Non-coding_Transcript SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1; CGAGGAGCCCCTGACGCTGGC 0.701000 20 3 0 0 1 0 0 CPT1A 1374 broad.mit.edu 37 11 68571514 68571514 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:68571514G>A uc001oog.4 - 4 679 c.509C>T c.(508-510)tCg>tTg p.S170L CPT1A_uc001oof.4_Missense_Mutation_p.S170L|5S_rRNA_uc021qmn.1_5'Flank NM_001876 NP_001867 P50416 CPT1A_HUMAN Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 170 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) GCGAGGCAGCGATGTCTGGAA 0.498000 71 4 0 0 1 0 0 FAM59A 64762 broad.mit.edu 37 18 29867299 29867299 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:29867299G>A uc002kxl.3 - 3 1317 c.1261C>T c.(1261-1263)Ctg>Ttg p.L421L FAM59A_uc002kxk.2_Silent_p.L421L NM_001242409 NP_001229338 Q9H706 FA59A_HUMAN Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA. 421 endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 36 TGATAGGGCAGGATGTCATGA 0.532000 97 5 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34015943 34015943 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:34015943G>A uc001bxm.1 - 55 8928 c.8751C>T c.(8749-8751)tcC>tcT p.S2917S CSMD2_uc001bxn.1_Silent_p.S2773S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2892 Sushi 21. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GATGGCCACAGGACACCACTG 0.562000 33 11 0 0 1 0 0 KY 339855 broad.mit.edu 37 3 134369687 134369687 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:134369687G>A uc010hty.3 - 0 178 c.116C>T c.(115-117)tCg>tTg p.S39L KY_uc011blw.2_Missense_Mutation_p.S39L|KY_uc011blx.2_Missense_Mutation_p.S39L|KY_uc003eqs.1_Intron NM_178554 NP_848649 Q8NBH2 KY_HUMAN Homo sapiens kyphoscoliosis peptidase (KY), mRNA. 39 Z disc|cytoskeleton peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 CTGCAGCAGCGAGCTCGGGTT 0.701000 24 4 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10089602 10089602 + Splice_Site SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:10089602T>C uc003buw.3 + 16 1357 c.1279_splice c.e16-1 p.V427_splice FANCD2_uc003bux.1_Splice_Site_p.V427_splice|FANCD2_uc003buy.1_Splice_Site_p.V427_splice|FANCD2_uc010hcw.1_5'Flank NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA. 427 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) CCACTCAAGGTTCTTAAGGAT 0.408000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 171 6 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226446965 226446965 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:226446965G>A uc002voe.2 + 3 1007 c.832G>A c.(832-834)Gac>Aac p.D278N NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.D48N NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 278 TATCTTTGACGACTTGGGCCA 0.537000 91 8 0 0 1 0 0 C4orf21 55345 broad.mit.edu 37 4 113510993 113510993 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:113510993G>A uc003iau.3 - 10 3225 c.3014C>T c.(3013-3015)cCt>cTt p.P1005L C4orf21_uc003iav.3_5'Flank|C4orf21_uc003iaw.3_Missense_Mutation_p.P1005L NM_018392 NP_060862 Q86YA3 CD021_HUMAN Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA. 1005 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) GGTAGAAACAGGGCTCAATGT 0.353000 23 4 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18681838 18681838 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:18681838G>A uc003zne.4 + 11 1522 c.1370G>A c.(1369-1371)aGa>aAa p.R457K ADAMTSL1_uc003znc.4_Missense_Mutation_p.R457K NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA. 457 TSP type-1 3. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CAGGGCCTCAGATACCGTGTG 0.502000 101 7 0 0 1 0 0 SIRT6 51548 broad.mit.edu 37 19 4180901 4180901 + Silent SNP G A A rs34786277 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:4180901G>A uc002lzo.3 - 1 132 c.72C>T c.(70-72)ttC>ttT p.F24F ANKRD24_uc010dtt.1_5'Flank|SIRT6_uc002lzq.3_Silent_p.F24F|SIRT6_uc002lzp.3_Silent_p.F24F|SIRT6_uc010xid.2_Intron|SIRT6_uc002lzr.3_Intron NM_016539 NP_057623 Q8N6T7 SIRT6_HUMAN Homo sapiens sirtuin 6 (SIRT6), transcript variant 1, mRNA. 24 chromatin silencing|protein ADP-ribosylation nuclear telomeric heterochromatin|nucleoplasm NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGGGGTCGAAGATCTGTG 0.632000 32 7 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100838860 100838860 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:100838860C>T uc003pqj.4 - 10 2145 c.1678G>A c.(1678-1680)Gaa>Aaa p.E560K SIM1_uc021zdg.1_Missense_Mutation_p.E560K|SIM1_uc010kcu.3_Missense_Mutation_p.E560K NM_005068 NP_005059 P81133 SIM1_HUMAN Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA. 560 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.H559H(1) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TTGCTGGGTTCATGTGGGCTA 0.463000 40 8 0 0 1 0 0 C1orf150 148823 broad.mit.edu 37 1 247712508 247712508 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:247712508C>T uc001idf.3 + 0 162 c.15C>T c.(13-15)ctC>ctT p.L5L C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Intron NM_145278 NP_660321 Q5JQS6 CA150_HUMAN Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA. 5 breast(1)|large_intestine(2)|lung(10)|skin(2) 15 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0241) GAAATTATCTCCTGCGAAAAC 0.468000 43 9 0 0 1 0 0 GP5 2814 broad.mit.edu 37 3 194118769 194118769 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:194118769G>A uc003ftv.1 - 1 274 c.243C>T c.(241-243)atC>atT p.I81I GP5_uc021xiz.1_Silent_p.I81I NM_004488 NP_004479 P40197 GPV_HUMAN Homo sapiens glycoprotein V (platelet) (GP5), mRNA. 81 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GGCTGTCGGAGATCATGAGGC 0.597000 80 7 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133920583 133920583 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:133920583C>T uc003ytw.3 + 17 4041 c.4000C>T c.(4000-4002)Cag>Tag p.Q1334* TG_uc010mdw.3_Nonsense_Mutation_p.Q93* NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 1334 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTGCCAGATCCAGGTACATGC 0.562000 42 6 0 0 1 0 0 APOL1 8542 broad.mit.edu 37 22 36661521 36661521 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:36661521G>A uc003ape.3 + 6 961 c.687G>A c.(685-687)gaG>gaA p.E229E APOL1_uc011amn.1_Silent_p.E90E|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Silent_p.E90E|APOL1_uc003apf.3_Silent_p.E213E|APOL1_uc011amp.2_Silent_p.E213E|APOL1_uc011amq.2_Silent_p.E195E|APOL1_uc010gwx.3_Silent_p.E90E NM_145343 NP_003652 O14791 APOL1_HUMAN Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA. 213 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 CTGGGATGGAGTTGGGAATCA 0.562000 129 15 0 0 1 0 0 GAB1 2549 broad.mit.edu 37 4 144381637 144381637 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:144381637C>T uc003ijd.3 + 8 2249 c.1890C>T c.(1888-1890)gaC>gaT p.D630D GAB1_uc003ije.3_Silent_p.D600D|GAB1_uc011chq.2_Silent_p.D497D NM_207123 NP_997006 Q13480 GAB1_HUMAN Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA. 600 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity p.D630V(1) breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 30 all_hematologic(180;0.158) CCAGTGAAGACCCAGTATGTA 0.418000 61 4 0 0 1 0 0 CCDC48 79825 broad.mit.edu 37 3 128757682 128757682 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:128757682G>A uc011bkt.2 + 6 1599 c.1599G>A c.(1597-1599)tcG>tcA p.S533S NM_024768 NP_079044 Q9HA90 CCD48_HUMAN Homo sapiens coiled-coil domain containing 48 (CCDC48), mRNA. 533 breast(1)|kidney(2)|lung(2)|skin(1) 6 AGAACATATCGAAAAGAGCCC 0.552000 74 9 0 0 1 0 0 CCR2 729230 broad.mit.edu 37 3 46399702 46399702 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:46399702C>T uc003cpn.4 + 1 1169 c.684C>T c.(682-684)acC>acT p.T228T CCR2_uc003cpm.4_Silent_p.T228T|CCR2_uc021wxa.1_Silent_p.T228T NM_001123041 NP_001116513 P41597 CCR2_HUMAN Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA. 228 JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) TCCTGAAAACCCTGCTTCGGT 0.463000 181 24 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995274 140995274 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:140995274C>A uc004fbt.3 + 3 2408 c.2084C>A c.(2083-2085)cCt>cAt p.P695H MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P354H NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 695 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTCCAAATTCCTCAGAGTCCT 0.567000 HNSCC(15;0.026) 30 5 1.23904e-05 1.25348e-05 1 1 0 OPRD1 4985 broad.mit.edu 37 1 29189312 29189312 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:29189312G>A uc001brf.1 + 2 878 c.636G>A c.(634-636)gtG>gtA p.V212V NM_000911 NP_000902 P41143 OPRD_HUMAN Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA. 212 immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) GGGACACGGTGACCAAGATCT 0.637000 43 10 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34074128 34074128 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:34074128C>T uc002hjv.2 - 4 1020 c.992G>A c.(991-993)cGa>cAa p.R331Q NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA. 331 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCTCAGCCTTCGGTCTGAAGA 0.632000 65 17 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107423316 107423316 + Missense_Mutation SNP C T T rs141942088 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:107423316C>T uc002tdq.3 - 5 1527 c.1408G>A c.(1408-1410)Gag>Aag p.E470K ST6GAL2_uc002tdr.3_Missense_Mutation_p.E470K NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 470 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 TAGTACAGCTCGTGGTAGTGG 0.557000 48 8 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25301109 25301110 + Missense_Mutation DNP GG CT CT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:25301109_25301110GG>CT uc003abg.2 + 21 3095_3096 c.2938_2939GG>CT c.(2938-2940)ggc>CTc p.G980L SGSM1_uc010guu.1_Missense_Mutation_p.G925L|SGSM1_uc003abh.2_Missense_Mutation_p.G919L|SGSM1_uc003abj.2_Missense_Mutation_p.G864L|SGSM1_uc003abi.1_Missense_Mutation_p.G900L NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA. 980 Rab-GAP TBC. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 CTATGTCCAGGGCATGTGTGAT 0.550000 225 23 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36872569 36872569 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:36872569C>T uc003cgj.3 - 20 8621 c.8373G>A c.(8371-8373)caG>caA p.Q2791Q NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2791 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CTGAGTATTTCTGGTAGGCCA 0.532000 143 21 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7721163 7721163 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:7721163G>A uc002giu.1 + 65 10239 c.10225G>A c.(10225-10227)Gaa>Aaa p.E3409K DNAH2_uc010cnm.1_Missense_Mutation_p.E347K NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 3409 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TAAGAACATGGAAGGAGGCCA 0.612000 44 8 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240370908 240370908 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:240370908C>T uc010pye.2 + 5 3033 c.2808C>T c.(2806-2808)ctC>ctT p.L936L FMN2_uc010pyd.2_Silent_p.L932L NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 932 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.L1075L(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CAGGCATACTCCCTCTGCCCC 0.692000 45 5 0 0 1 0 0 KDM4B 23030 broad.mit.edu 37 19 5047612 5047612 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:5047612C>T uc010xim.2 + 4 666 c.558C>T c.(556-558)ttC>ttT p.F186F KDM4B_uc010xil.1_Silent_p.F186F|KDM4B_uc002mbq.4_Silent_p.F186F NM_015015 NP_055830 O94953 KDM4B_HUMAN Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA. 186 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 AGACCACCTTCGCCTGGCACA 0.627000 60 15 0 0 1 0 0 KRT28 162605 broad.mit.edu 37 17 38953468 38953468 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:38953468C>T uc002hvh.1 - 3 822 c.756G>A c.(754-756)ggG>ggA p.G252G NM_181535 NP_853513 Q7Z3Y7 K1C28_HUMAN Homo sapiens keratin 28 (KRT28), mRNA. 252 Linker 12.|Rod. cytoplasm|intermediate filament structural molecule activity p.P251P(1)|p.P251L(1) NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) CGAGGTCTACCCCCGGGGCCG 0.592000 63 8 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39266420 39266420 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:39266420C>T uc001uwv.3 + 0 5248 c.4939C>T c.(4939-4941)Cag>Tag p.Q1647* NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 1647 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GATGAAGATCCAGGTCTTGGC 0.493000 75 5 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40030083 40030083 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:40030083G>A uc002hyg.3 - 22 2786 c.2623C>T c.(2623-2625)Ctc>Ttc p.L875F ACLY_uc002hyh.3_Missense_Mutation_p.L865F|ACLY_uc002hyi.3_Missense_Mutation_p.L929F|ACLY_uc010wfx.2_Missense_Mutation_p.L919F|ACLY_uc010wfy.2_Missense_Mutation_p.L604F NM_001096 NP_001087 P53396 ACLY_HUMAN Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA. 875 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) AACCAGAGGAGGCCGAGGACC 0.572000 91 8 0 0 1 0 0 CYP2F1 1572 broad.mit.edu 37 19 41622176 41622176 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:41622176G>A uc002opu.1 + 1 139 c.83G>A c.(82-84)gGa>gAa p.G28E CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.G28E|CYP2F1_uc002opv.1_Non-coding_Transcript NM_000774 NP_000765 P24903 CP2F1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA. 28 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 AGAGATAAGGGAAAGCTGCCT 0.562000 157 21 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31318740 31318740 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:31318740G>A uc010dmg.1 + 10 1427 c.1372G>A c.(1372-1374)Gta>Ata p.V458I ASXL3_uc002kxq.2_Missense_Mutation_p.V165I NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 458 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TGCAGAAGAGGTAGAGACTAG 0.388000 34 6 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3329121 3329122 + Missense_Mutation DNP CC AT AT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:3329121_3329122CC>AT uc001akf.3 + 8 2442_2443 c.2360_2361CC>AT c.(2359-2361)ccc>cAT p.P787H PRDM16_uc001ake.3_Missense_Mutation_p.P787H|PRDM16_uc009vlh.3_Missense_Mutation_p.P488H|PRDM16_uc001akc.3_Missense_Mutation_p.P787H NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 787 Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CCCATCCTGCCCATGCCCAAGG 0.713000 T EVI1 """MDS, AML""" 37 13 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4920420 4920420 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:4920420C>T uc001qng.3 + 0 2079 c.1213C>T c.(1213-1215)Ctt>Ttt p.L405F KCNA6_uc021qtr.1_Missense_Mutation_p.L405F NM_002235 NP_002226 P17658 KCNA6_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA. 405 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 TGACGATTCGCTTTTTCCCAG 0.562000 HNSCC(72;0.22) 90 6 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32020538 32020538 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:32020538C>T uc003nzl.2 - 25 9220 c.9018G>A c.(9016-9018)ggG>ggA p.G3006G NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 3053 Fibronectin type-III 22. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCTCCAGGCCCCCCACGGTGA 0.672000 326 14 0 0 1 0 0 FDXR 2232 broad.mit.edu 37 17 72859054 72859054 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:72859054G>A uc010wrl.2 - 11 1577 c.1490C>T c.(1489-1491)tCt>tTt p.S497F GRIN2C_uc002jlu.1_5'Flank|GRIN2C_uc002jlv.1_5'Flank|FDXR_uc010wri.2_Missense_Mutation_p.S402F|FDXR_uc010wrj.2_Missense_Mutation_p.S452F|FDXR_uc002jlw.3_Missense_Mutation_p.S211F|FDXR_uc002jlx.3_Missense_Mutation_p.S460F|FDXR_uc002jly.3_Missense_Mutation_p.S454F|FDXR_uc010wrk.2_Missense_Mutation_p.S485F|FDXR_uc010wrm.2_Missense_Mutation_p.S414F|FDXR_uc002jlz.3_Missense_Mutation_p.S446F|FDXR_uc002jmb.3_Non-coding_Transcript NM_024417 NP_077728 P22570 ADRO_HUMAN Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 454 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) GTCTGAGAAAGAGACTGGCCG 0.632000 53 4 0 0 1 0 0 ALS2CL 259173 broad.mit.edu 37 3 46722884 46722884 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:46722884C>T uc003cqa.2 - 12 1481 c.1288G>A c.(1288-1290)Gag>Aag p.E430K ALS2CL_uc003cpz.2_5'UTR|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.E430K NM_001190707 NP_667340 Q60I27 AL2CL_HUMAN Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA. 430 E -> G (in Ref. 2; BAD18448). endosome organization|regulation of Rho protein signal transduction GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) TTGTACACCTCGTCGGTGCTG 0.652000 94 5 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179542435 179542435 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:179542435C>T uc021vsy.1 - 142 30697 c.30472G>A c.(30472-30474)Gaa>Aaa p.E10158K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6819K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 11085 Glu-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACATATTCTTCTTCGGGAGGA 0.453000 21 4 0 0 1 0 0 ADPRHL2 54936 broad.mit.edu 37 1 36558948 36558948 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:36558948C>T uc001bzt.3 + 5 1106 c.1053C>T c.(1051-1053)atC>atT p.I351I NM_017825 NP_060295 Q9NX46 ARHL2_HUMAN Homo sapiens ADP-ribosylhydrolase like 2 (ADPRHL2), nuclear gene encoding mitochondrial protein, mRNA. 351 cytoplasm|nucleus metal ion binding|poly(ADP-ribose) glycohydrolase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1) 8 Myeloproliferative disorder(586;0.0393) AGACAGACATCCTGGCCCAAA 0.582000 119 5 0 0 1 0 0 DPEP1 1800 broad.mit.edu 37 16 89703313 89703313 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:89703313C>T uc010cin.3 + 5 764 c.561C>T c.(559-561)ccC>ccT p.P187P DPEP1_uc002fnr.4_Silent_p.P187P|DPEP1_uc002fns.4_Silent_p.P187P NM_001128141 NP_004404 P16444 DPEP1_HUMAN Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA. 187 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 14 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) ACAGCGAGCCCCAGAGCCAAG 0.647000 80 9 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139638484 139638484 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:139638484C>T uc003yvd.3 - 50 4113 c.3666G>A c.(3664-3666)ggG>ggA p.G1222G COL22A1_uc011ljo.2_Silent_p.G502G NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 1222 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGCCTTCTTTCCCCTAAAAGA 0.443000 HNSCC(7;0.00092) 22 5 0 0 1 0 0 SLC1A5 6510 broad.mit.edu 37 19 47278983 47278983 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:47278983G>A uc002pfs.3 - 7 2030 c.1410C>T c.(1408-1410)ctC>ctT p.L470L SLC1A5_uc010xyh.2_Silent_p.L268L|SLC1A5_uc002pfq.3_Silent_p.L294L|SLC1A5_uc002pfr.3_Silent_p.L242L NM_005628 NP_001138616 Q15758 AAAT_HUMAN Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA. 470 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) CTTCTACATTGAGGACGGTAC 0.552000 57 8 0 0 1 0 0 SLC13A3 64849 broad.mit.edu 37 20 45188825 45188825 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:45188825G>A uc002xsf.2 - 12 1685 c.1645C>T c.(1645-1647)Ctc>Ttc p.L549F SLC13A3_uc010ghn.2_Missense_Mutation_p.L518F|SLC13A3_uc010zxx.2_Missense_Mutation_p.L451F|SLC13A3_uc010zxw.2_Missense_Mutation_p.L499F|SLC13A3_uc002xsg.2_Missense_Mutation_p.L502F|SLC13A3_uc010gho.2_Missense_Mutation_p.L467F|SLC13A3_uc002xse.2_Missense_Mutation_p.L40F|SLC13A3_uc010ghm.2_Missense_Mutation_p.L136F|SLC13A3_uc010zxv.2_Missense_Mutation_p.L134F NM_022829 NP_073740 Q8WWT9 S13A3_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA. 549 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) TTCATCAGGAGGCCTGTCCGC 0.552000 71 9 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74003694 74003694 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:74003694G>A uc010wss.1 - 21 5886 c.5658C>T c.(5656-5658)gcC>gcT p.A1886A EVPL_uc002jqi.2_Silent_p.A1864A|EVPL_uc010wst.1_Silent_p.A1334A NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1864 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TGCCCCCTGTGGCCGCCTGGG 0.602000 149 11 0 0 1 0 0 TPSD1 23430 broad.mit.edu 37 16 1306629 1306629 + Silent SNP C T T rs35609827 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:1306629C>T uc002clb.1 + 1 204 c.195C>T c.(193-195)ttC>ttT p.F65F TPSD1_uc010brm.1_Silent_p.F3F NM_012217 NP_036349 Q9BZJ3 TRYD_HUMAN Homo sapiens tryptase delta 1 (TPSD1), mRNA. 65 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) GGATGCACTTCTGCGGGGGCT 0.682000 94 16 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43527003 43527003 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:43527003C>T uc001zrd.2 - 10 1847 c.1839G>A c.(1837-1839)aaG>aaA p.K613K TGM5_uc001zrc.2_Silent_p.K270K|TGM5_uc001zre.2_Silent_p.K531K NM_201631 NP_963925 O43548 TGM5_HUMAN Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA. 613 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) AGGTGATGATCTTGTTCACCA 0.517000 84 6 0 0 1 0 0 WWC2 80014 broad.mit.edu 37 4 184233505 184233505 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:184233505C>T uc010irx.3 + 21 3578 c.3396C>T c.(3394-3396)tcC>tcT p.S1132S WWC2_uc003ivk.4_Silent_p.S927S|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Silent_p.S814S|WWC2_uc003ivn.4_Silent_p.S647S|WWC2_uc010irz.3_Silent_p.S473S|WWC2_uc003ivo.4_Silent_p.S260S NM_024949 NP_079225 Q6AWC2 WWC2_HUMAN Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA. 1132 NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) CTGAACAGTCCAAAGAAGAGC 0.478000 100 6 0 0 1 0 0 PRR19 284338 broad.mit.edu 37 19 42813791 42813791 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:42813791C>T uc002oti.3 + 1 433 c.55C>T c.(55-57)Cgt>Tgt p.R19C PRR19_uc002oth.1_Missense_Mutation_p.R19C|PRR19_uc002otj.3_Missense_Mutation_p.R19C NM_199285 NP_954979 A6NJB7 PRR19_HUMAN Homo sapiens proline rich 19 (PRR19), mRNA. 19 NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 10 Prostate(69;0.00682) GAAACCTGGTCGTGTCCGTCG 0.582000 84 14 0 0 1 0 0 EMID1 129080 broad.mit.edu 37 22 29630187 29630187 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:29630187G>A uc003aem.3 + 11 1104 c.1029_splice c.e11+1 p.R343_splice EMID1_uc003aen.3_Splice_Site_p.R341_splice|EMID1_uc021wnr.1_Splice_Site_p.R40_splice NM_133455 NP_597712 Q96A84 EMID1_HUMAN Homo sapiens EMI domain containing 1 (EMID1), mRNA. 341 Collagen-like. collagen NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3) 12 AAGGGCGAGAGAGTGAGTACC 0.627000 13 3 0 0 1 0 0 PRAME 23532 broad.mit.edu 37 22 22890509 22890509 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:22890509G>A uc002zwf.3 - 4 1666 c.1510C>T c.(1510-1512)Ccc>Tcc p.P504S abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.P488S|PRAME_uc010gtr.3_Missense_Mutation_p.P504S|PRAME_uc002zwg.3_Missense_Mutation_p.P504S|PRAME_uc002zwh.3_Missense_Mutation_p.P504S|PRAME_uc002zwi.3_Missense_Mutation_p.P504S|PRAME_uc002zwj.3_Missense_Mutation_p.P504S|PRAME_uc002zwk.3_Missense_Mutation_p.P504S NM_206956 NP_996839 P78395 PRAME_HUMAN Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA. 504 Mediates interaction with RARA. apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) ATGAAACAGGGGCACAGGATG 0.532000 158 19 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48619947 48619947 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:48619947C>T uc003ctz.2 - 45 4565 c.4564_splice c.e45-1 p.G1522_splice NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 1522 Triple-helical region. G -> E (in DDEB). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTGGTGGCCCCTGAATGTAGA 0.602000 77 15 0 0 1 0 0 IKBKE 9641 broad.mit.edu 37 1 206664990 206664990 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:206664990C>T uc001hdz.2 + 17 2321 c.1743C>T c.(1741-1743)ttC>ttT p.F581F IKBKE_uc001hea.2_Silent_p.F496F|IKBKE_uc009xbv.2_Silent_p.F581F NM_014002 NP_001180250 Q14164 IKKE_HUMAN Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA. 581 DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway PML body|cytosol|endosome membrane|plasma membrane ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) GGGTGAATTTCAGTCATTTAG 0.527000 50 10 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160468838 160468838 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:160468838C>T uc003qta.3 + 16 2392 c.2244C>T c.(2242-2244)tcC>tcT p.S748S NM_000876 NP_000867 P11717 MPRI_HUMAN Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA. 748 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) AGGATAACTCCACCTACAACT 0.542000 70 13 0 0 1 0 0 ANKS1A 23294 broad.mit.edu 37 6 35048896 35048896 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:35048896C>T uc003ojx.4 + 16 2812 c.2670C>T c.(2668-2670)gaC>gaT p.D890D ANKS1A_uc011dst.2_Silent_p.D430D|ANKS1A_uc010jvp.2_Silent_p.D264D NM_015245 NP_056060 Q92625 ANS1A_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA. 890 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 GTCTCCATGACCCTGCGGCAC 0.652000 29 4 0 0 1 0 0 CPA4 51200 broad.mit.edu 37 7 129962364 129962364 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:129962364G>A uc003vpr.3 + 10 1161 c.1114G>A c.(1114-1116)Gac>Aac p.D372N CPA4_uc011kpd.2_Missense_Mutation_p.D339N|CPA4_uc011kpe.2_Missense_Mutation_p.D268N NM_016352 NP_057436 Q9UI42 CBPA4_HUMAN Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA. 372 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) CTGGGCATATGACAACGGCAT 0.532000 73 7 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121345646 121345646 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:121345646G>A uc003eeg.2 + 3 2229 c.2019G>A c.(2017-2019)gaG>gaA p.E673E NM_016298 NP_057382 Q9UH90 FBX40_HUMAN Homo sapiens F-box protein 40 (FBXO40), mRNA. 673 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) ACATTGTAGAGCACAAAACTG 0.493000 84 8 0 0 1 0 0 DOCK5 80005 broad.mit.edu 37 8 25209303 25209304 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:25209303_25209304CC>TT uc003xeg.3 + 26 2948_2949 c.2811_2812CC>TT c.(2809-2814)aaccgg>aaTTgg p.R938W DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.R652W|DOCK5_uc003xei.3_Missense_Mutation_p.R508W|DOCK5_uc003xej.3_Non-coding_Transcript NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA. 938 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) GAAGGATCAACCGGACAGTGAT 0.535000 16 4 0 0 1 0 0 PCDP1 200373 broad.mit.edu 37 2 120383175 120383175 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:120383175G>A uc002tmb.3 + 15 1681 c.569G>A c.(568-570)cGa>cAa p.R190Q PCDP1_uc010yyq.2_Missense_Mutation_p.R320Q NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA. 476 cilium calmodulin binding Colorectal(110;0.196) ATTCAGGGACGATTATTCAAT 0.388000 10 3 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558932 140558932 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140558932C>T uc011dai.2 + 0 1562 c.1317C>T c.(1315-1317)acC>acT p.T439T PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 439 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCAATATGACCGTGCTGGTGT 0.567000 99 8 0 0 1 0 0 CLDN2 9075 broad.mit.edu 37 X 106171843 106171843 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:106171843G>A uc022ccd.1 + 0 385 c.385G>A c.(385-387)Ggc>Agc p.G129S MORC4_uc004emp.4_Intron|CLDN2_uc004emq.1_Missense_Mutation_p.G129S|CLDN2_uc022ccc.1_Missense_Mutation_p.G129S|CLDN2_uc004emt.2_Missense_Mutation_p.G129S NM_020384 NP_065117 P57739 CLD2_HUMAN Homo sapiens claudin 2 (CLDN2), transcript variant 1, mRNA. 129 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 CATCCTTGGAGGCCTCCTGGG 0.512000 52 26 0 0 1 0 0 ZNF609 23060 broad.mit.edu 37 15 64966150 64966150 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:64966150G>A uc002ann.3 + 3 1097 c.1097G>A c.(1096-1098)cGc>cAc p.R366H NM_015042 NP_055857 O15014 ZN609_HUMAN Homo sapiens zinc finger protein 609 (ZNF609), mRNA. 366 nucleus zinc ion binding p.R366C(1) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTGGAAATGCGCAATGGCCGG 0.483000 89 5 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140754586 140754586 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140754586G>A uc003ljy.2 + 0 936 c.936G>A c.(934-936)tcG>tcA p.S312S PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Silent_p.S312S NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 313 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAGGACTCGAGTTTTTATG 0.393000 110 17 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201195166 201195166 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:201195166C>T uc001gwc.3 + 21 10831 c.10701C>T c.(10699-10701)taC>taT p.Y3567Y IGFN1_uc001gwb.3_Non-coding_Transcript NM_001164586 NP_001158058 Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA. autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCCACGAATACCACTTCAGGG 0.667000 38 5 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3129189 3129189 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:3129189C>T uc021xkv.1 + 11 1746 c.1601C>T c.(1600-1602)tCc>tTc p.S534F NM_002111 NP_002102 P42858 HD_HUMAN Homo sapiens huntingtin (HTT), mRNA. 534 Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) AGCCACAGCTCCAGCCAGGTC 0.607000 32 4 0 0 1 0 0 ZNF251 90987 broad.mit.edu 37 8 145947691 145947691 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:145947691G>A uc003zdv.4 - 4 1610 c.1354C>T c.(1354-1356)Cga>Tga p.R452* NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN Homo sapiens zinc finger protein 251 (ZNF251), mRNA. 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) TGAACTCTTCGATGCTGAACA 0.498000 59 5 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2816824 2816824 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:2816824C>T uc002crk.3 + 10 6844 c.6295C>T c.(6295-6297)Cat>Tat p.H2099Y SRRM2_uc002crj.1_Missense_Mutation_p.H2003Y|SRRM2_uc002crl.1_Missense_Mutation_p.H2099Y|SRRM2_uc010bsu.1_Missense_Mutation_p.H2003Y NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 2099 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 AACAAGAAATCATTCTGGTTC 0.512000 121 30 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10084879 10084879 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:10084879C>T uc002mmq.1 - 46 3558 c.3472G>A c.(3472-3474)Gag>Aag p.E1158K NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 1158 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent p.G1157R(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TCCCCTTTCTCTCCCGGAGGG 0.607000 41 9 0 0 1 0 0 ZNF224 7767 broad.mit.edu 37 19 44611004 44611004 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:44611004C>T uc002oyh.2 + 5 1008 c.691C>T c.(691-693)Ccg>Tcg p.P231S LOC100379224_uc002oyi.3_Non-coding_Transcript NM_013398 NP_037530 Q9NZL3 ZN224_HUMAN Homo sapiens zinc finger protein 224 (ZNF224), mRNA. 231 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) TGGAGAGAAACCGTTCAAATG 0.423000 71 11 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65385973 65385973 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:65385973C>T uc001oey.2 + 5 1140 c.1140C>T c.(1138-1140)gtC>gtT p.V380V NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA. 380 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CGCTCCTGGTCGTGCGGCCCA 0.682000 14 5 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187540298 187540298 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:187540298G>A uc003izf.3 - 9 7630 c.7442C>T c.(7441-7443)aCt>aTt p.T2481I NM_005245 NP_005236 Q14517 FAT1_HUMAN Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA. 2481 Cadherin 22. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TCCAATTACAGTTACATGAAC 0.478000 HNSCC(5;0.00058) 174 44 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48454340 48454340 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:48454340G>A uc003csw.2 - 24 4935 c.4665C>T c.(4663-4665)acC>acT p.T1555T PLXNB1_uc003cst.2_Silent_p.T5T|PLXNB1_uc003csu.2_Silent_p.T1372T|PLXNB1_uc003csx.2_Silent_p.T1555T NM_002673 NP_002664 O43157 PLXB1_HUMAN Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA. 1555 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGAGGTCACTGGTGAGATCGG 0.582000 66 5 0 0 1 0 0 MBL2 4153 broad.mit.edu 37 10 54528164 54528164 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:54528164G>A uc001jjt.3 - 3 545 c.480C>T c.(478-480)gcC>gcT p.A160A NM_000242 NP_000233 P11226 MBL2_HUMAN Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA. 160 C-type lectin. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 TGGCCACAGAGGCCTGGAACT 0.498000 61 4 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157488278 157488278 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:157488278C>T uc009wsm.3 - 15 2902 c.2744_splice c.e15-1 p.E915_splice FCRL5_uc001fqu.3_Missense_Mutation_p.R918K NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 0 integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) ATTTTCTCCTCTAGGATTTGC 0.448000 82 12 0 0 1 0 0 abParts 0 broad.mit.edu 37 2 90211770 90211770 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:90211770C>T uc010yts.2 + 36 c.4626C>T Parts of antibodies, mostly variable regions. TCTCTTCCTCCTGCTACTCTG 0.517000 60 4 0 0 1 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74915493 74915493 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:74915493C>T uc001owb.3 + 13 2393 c.1998C>T c.(1996-1998)ttC>ttT p.F666F SLCO2B1_uc010rrr.2_Silent_p.F522F|SLCO2B1_uc010rrs.2_Silent_p.F550F|SLCO2B1_uc001owc.3_Silent_p.F439F|SLCO2B1_uc001owd.3_Silent_p.F644F NM_007256 NP_001138683 O94956 SO2B1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA. 666 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) TGATCTGCTTCGCCTTAGTTT 0.552000 65 4 0 0 1 0 0 PPP1R1A 5502 broad.mit.edu 37 12 54976536 54976536 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:54976536C>T uc001sgg.2 - 3 398 c.227G>A c.(226-228)aGg>aAg p.R76K NM_006741 NP_006732 Q13522 PPR1A_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1A (PPP1R1A), mRNA. 76 glycogen metabolic process|signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity lung(2) 2 GGGTGTGATCCTTGTCATCTT 0.562000 83 4 0 0 1 0 0 C4orf50 389197 broad.mit.edu 37 4 5990116 5990116 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:5990116C>T uc003git.2 - 0 c.1259G>A Q6ZRC1 CD050_HUMAN Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772. breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 GCCCCTGAGCCACAGAACACC 0.542000 30 4 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50731719 50731719 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:50731719C>T uc002lfe.2 + 9 2323 c.1707C>T c.(1705-1707)tcC>tcT p.S569S DCC_uc010xdr.1_Silent_p.S417S|DCC_uc010dpf.2_Silent_p.S224S NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 569 Fibronectin type-III 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CTGAGGTGTCCACAGGAAAAG 0.473000 38 5 0 0 1 0 0 PAIP1 10605 broad.mit.edu 37 5 43529915 43529916 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:43529915_43529916CC>TT uc003job.3 - 9 1565_1566 c.1318_1319GG>AA c.(1318-1320)gga>AAa p.G440K PAIP1_uc003joa.3_Missense_Mutation_p.G361K|PAIP1_uc003joc.3_Missense_Mutation_p.G328K NM_006451 NP_899152 Q9H074 PAIP1_HUMAN Homo sapiens poly(A) binding protein interacting protein 1 (PAIP1), transcript variant 1, mRNA. 440 PABPC1-interacting motif-1 (PAM1). mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol RNA binding|protein binding|translation activator activity endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Lung NSC(6;2.07e-05) TAAATCTGTTCCATTTTCTTCA 0.347000 34 5 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887587 12887587 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12887587C>T uc001auk.2 - 2 466 c.270G>A c.(268-270)agG>agA p.R90R NM_001146344 NP_001139816 O60813 PRA11_HUMAN Homo sapiens PRAME family member 11 (PRAMEF11), mRNA. 90 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GTGTTTTGTTCCTCTTGGCAT 0.483000 244 66 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86260899 86260899 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:86260899A>T uc002sqs.3 - 27 4425 c.4046T>A c.(4045-4047)cTt>cAt p.L1349H POLR1A_uc010ytb.2_Missense_Mutation_p.L715H|POLR1A_uc002sqt.1_Missense_Mutation_p.L372H NM_015425 NP_056240 O95602 RPA1_HUMAN Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA. 1349 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 TTCCATCAGAAGTTTAAAGAA 0.463000 25 5 0 0 1 0 0 USP21 27005 broad.mit.edu 37 1 161135152 161135152 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:161135152C>T uc010pkc.2 + 13 1990 c.1613C>T c.(1612-1614)tCc>tTc p.S538F USP21_uc010pkd.2_Missense_Mutation_p.S538F|USP21_uc021pbv.1_Non-coding_Transcript|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank NM_001014443 NP_036607 Q9UK80 UBP21_HUMAN Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA. 538 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CCTAGTGTCTCCCCTGTCAGT 0.532000 43 6 0 0 1 0 0 VAT1 10493 broad.mit.edu 37 17 41170058 41170058 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:41170058G>A uc002icm.1 - 2 881 c.761C>T c.(760-762)cCt>cTt p.P254L VAT1_uc010cyw.1_Missense_Mutation_p.P120L|VAT1_uc010whk.1_Missense_Mutation_p.P186L NM_006373 NP_006364 Q99536 VAT1_HUMAN Homo sapiens vesicle amine transport protein 1 homolog (T. californica) (VAT1), mRNA. 254 cytoplasm|integral to membrane oxidoreductase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 9 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.156) CCCACCTTTAGGGGAAATCTT 0.552000 60 8 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39752126 39752126 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:39752126C>T uc001rly.3 - 7 1489 c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K KIF21A_uc001rlx.3_Missense_Mutation_p.E357K|KIF21A_uc001rlz.3_Missense_Mutation_p.E357K|KIF21A_uc010skl.2_Missense_Mutation_p.E357K NM_001173464 NP_001166935 Q7Z4S6 KI21A_HUMAN Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA. 357 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TTTAACGTTTCCATAAAGTCT 0.393000 63 4 0 0 1 0 0 C20orf195 79025 broad.mit.edu 37 20 62187047 62187047 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:62187047G>A uc002yfj.3 + 1 123 c.31G>A c.(31-33)Gac>Aac p.D11N C20orf195_uc021wgc.1_Missense_Mutation_p.D11N NM_024059 NP_076964 Q9BVV2 CT195_HUMAN Homo sapiens chromosome 20 open reading frame 195 (C20orf195), mRNA. 11 large_intestine(3)|lung(4) 7 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) CCTGGGCCTGGACAAGATGAA 0.652000 25 5 0 0 1 0 0 C10orf10 11067 broad.mit.edu 37 10 45473456 45473456 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:45473456G>A uc001jbr.4 - 1 313 c.23C>T c.(22-24)tCc>tTc p.S8F RASSF4_uc001jbo.3_Intron|RASSF4_uc001jbp.3_Intron|RASSF4_uc009xmn.3_Intron|RASSF4_uc001jbq.3_Intron|C10orf10_uc021ppn.1_Missense_Mutation_p.S8F NM_007021 NP_008952 Q9NTK1 DEPP_HUMAN Homo sapiens chromosome 10 open reading frame 10 (C10orf10), mRNA. 8 mitochondrion lung(1) 1 ATGGGCCACGGAGAGCAGAAG 0.642000 81 12 0 0 1 0 0 ARSJ 79642 broad.mit.edu 37 4 114824625 114824625 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:114824625C>T uc003ibq.1 - 1 1493 c.605G>A c.(604-606)gGa>gAa p.G202E ARSJ_uc010imu.1_Missense_Mutation_p.G202E|ARSJ_uc010imv.1_Missense_Mutation_p.G30E NM_024590 NP_078866 Q5FYB0 ARSJ_HUMAN Homo sapiens arylsulfatase family, member J (ARSJ), mRNA. 202 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) ATCCCCACTTCCCAAAAGGGA 0.433000 98 6 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 99042367 99042367 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:99042367C>T uc001vnh.3 + 9 1251 c.1012C>T c.(1012-1014)Cgg>Tgg p.R338W FARP1_uc001vnj.3_Missense_Mutation_p.R338W NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA. 338 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GTCATCATTTCGGTTCAGGTG 0.532000 94 7 0 0 1 0 0 CD300A 11314 broad.mit.edu 37 17 72469981 72469982 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:72469981_72469982CC>TT uc002jkv.3 + 1 668_669 c.347_348CC>TT c.(346-348)ccc>cTT p.P116L CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron NM_007261 NP_009192 Q9UGN4 CLM8_HUMAN Homo sapiens CD300a molecule (CD300A), mRNA. 116 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity p.P116S(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 TTTCATGATCCCGTTGTCGAGG 0.559000 47 13 0 0 1 0 0 AMZ1 155185 broad.mit.edu 37 7 2752419 2752419 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:2752419G>A uc003smr.1 + 6 1765 c.1404G>A c.(1402-1404)ggG>ggA p.G468G AMZ1_uc003sms.1_3'UTR|AMZ1_uc011jwa.1_Silent_p.G217G NM_133463 NP_597720 Q400G9 AMZ1_HUMAN Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA. 468 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) AGGTGCTGGGGGACAAGTTCT 0.662000 61 4 0 0 1 0 0 SLC17A5 26503 broad.mit.edu 37 6 74351598 74351598 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:74351598G>A uc003phn.4 - 2 469 c.341C>T c.(340-342)tCc>tTc p.S114F SLC17A5_uc010kay.3_Non-coding_Transcript|SLC17A5_uc011dyo.1_Silent_p.F12F NM_012434 NP_036566 Q9NRA2 S17A5_HUMAN Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA. 114 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ATAAAAAAAGGAACCGAGAAT 0.418000 91 7 0 0 1 0 0 BTBD9 114781 broad.mit.edu 37 6 38561937 38561937 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:38561937G>A uc003ooa.4 - 3 928 c.352C>T c.(352-354)Cat>Tat p.H118Y BTBD9_uc010jwv.3_Missense_Mutation_p.H59Y|BTBD9_uc003ony.4_Missense_Mutation_p.H50Y|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Missense_Mutation_p.H118Y NM_052893 NP_689946 Q96Q07 BTBD9_HUMAN Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA. 118 cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 CCATATTTATGAGCCAGGCTC 0.448000 197 15 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117788729 117788729 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:117788729C>T uc004eqp.2 + 42 4923 c.4860C>T c.(4858-4860)acC>acT p.T1620T DOCK11_uc004eqq.2_Silent_p.T1399T NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA. 1620 DHR-2. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TCAGGAAAACCTGGCTTGATA 0.428000 27 6 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31319674 31319674 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:31319674G>A uc010dmg.1 + 10 2361 c.2306G>A c.(2305-2307)aGa>aAa p.R769K ASXL3_uc002kxq.2_Missense_Mutation_p.R476K NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 769 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CATCAGCAAAGAAAGTCACCT 0.478000 43 6 0 0 1 0 0 L1TD1 54596 broad.mit.edu 37 1 62675974 62675974 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:62675974C>T uc021ooc.1 + 4 1963 c.1528C>T c.(1528-1530)Ccc>Tcc p.P510S L1TD1_uc001dae.4_Missense_Mutation_p.P510S NM_001164835 NP_061952 Q5T7N2 LITD1_HUMAN Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA. 510 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 AAAAGAAATTCCCTTTAGTTA 0.453000 30 4 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947468 237947468 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:237947468C>T uc001hyl.1 + 89 12576 c.12456C>T c.(12454-12456)atC>atT p.I4152I RYR2_uc010pya.2_Silent_p.I567I NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 4152 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATTTTGAAATCAGTGAGTCCA 0.502000 30 5 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40408594 40408594 + Silent SNP G A A rs141092836 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:40408594G>A uc002omp.4 - 7 4253 c.4245C>T c.(4243-4245)ttC>ttT p.F1415F NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 1415 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AGGAGTTGCCGAACTCATTGG 0.632000 74 10 0 0 1 0 0 OR10G3 26533 broad.mit.edu 37 14 22038389 22038389 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:22038389G>A uc010tmb.2 - 0 487 c.487C>T c.(487-489)Cta>Tta p.L163L NM_001005465 NP_001005465 Q8NGC4 O10G3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA. 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7) 15 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) CGGAAGGTTAGGATGGCCTGG 0.582000 76 5 0 0 1 0 0 MEPE 56955 broad.mit.edu 37 4 88767531 88767531 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:88767531C>T uc021xpx.1 + 3 1616 c.1604C>T c.(1603-1605)tCc>tTc p.S535F MEPE_uc021xpu.1_Missense_Mutation_p.S504F|MEPE_uc021xpv.1_Missense_Mutation_p.S391F|MEPE_uc021xpw.1_Missense_Mutation_p.S391F|MEPE_uc010ikn.3_Missense_Mutation_p.S391F|MEPE_uc003hqy.3_Missense_Mutation_p.S504F|MEPE_uc021xpy.1_Missense_Mutation_p.S391F NM_001184697 NP_001171626 Q9NQ76 MEPE_HUMAN Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA. 504 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) AGGTTTAGTTCCCGTAGAAGG 0.507000 42 7 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63990302 63990302 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:63990302C>T uc003peh.3 - 3 1188 c.1154G>A c.(1153-1155)gGa>gAa p.G385E LGSN_uc003pei.3_3'UTR NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA. 385 glutamine biosynthetic process glutamate-ammonia ligase activity p.W384S(1)|p.G385R(1) NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) GTCATTGTATCCCCATGTTGT 0.463000 72 8 0 0 1 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51649261 51649261 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:51649261C>T uc002pvv.1 + 3 979 c.910C>T c.(910-912)Ctg>Ttg p.L304L SIGLEC7_uc002pvw.1_Silent_p.L211L|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA. 304 Ig-like C2-type 2. cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) CTCAAACCCTCTGGTACTGGA 0.592000 83 7 0 0 1 0 0 DMWD 1762 broad.mit.edu 37 19 46289876 46289876 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:46289876G>A uc002pdj.1 - 2 924 c.878C>T c.(877-879)tCg>tTg p.S293L DMWD_uc021uwc.1_5'UTR|DMWD_uc010eko.1_5'UTR NM_004943 NP_004934 Q09019 DMWD_HUMAN Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA. 293 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) GCCATCGGGCGAGAAGGCGAA 0.647000 40 5 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7580448 7580448 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:7580448G>A uc003mxp.1 + 22 4304 c.4025G>A c.(4024-4026)tGg>tAg p.W1342* DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Nonsense_Mutation_p.W1342* NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 1342 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAGCGCCGCTGGGAATATGAA 0.448000 48 5 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106845390 106845390 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:106845390C>T uc021ser.1 - 488 c.14532G>A Parts of antibodies, mostly variable regions. CAGGGTGTTCCTGGAATTGTC 0.527000 108 10 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54313362 54313362 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:54313362G>A uc002qcj.4 - 2 1771 c.1551C>T c.(1549-1551)ttC>ttT p.F517F NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.F517F|NLRP12_uc002qci.4_Silent_p.F517F|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.F517F NM_144687 NP_653288 P59046 NAL12_HUMAN Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA. 517 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AGAATTCCTGGAAACTCAAGT 0.537000 109 19 0 0 1 0 0 ESRP1 54845 broad.mit.edu 37 8 95683691 95683691 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:95683691G>A uc003ygq.4 + 10 1427 c.1244G>A c.(1243-1245)cGa>cAa p.R415Q ESRP1_uc003ygr.4_Missense_Mutation_p.R415Q|ESRP1_uc003ygs.4_Missense_Mutation_p.R415Q|ESRP1_uc003ygt.4_Missense_Mutation_p.R415Q|ESRP1_uc003ygu.4_Missense_Mutation_p.R415Q|ESRP1_uc003ygv.3_Missense_Mutation_p.R255Q|ESRP1_uc003ygw.3_Missense_Mutation_p.R255Q NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA. 415 RNA splicing|mRNA processing|regulation of RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 GTGCTGAATCGATTCTCCTCG 0.478000 243 16 0 0 1 0 0 TSPAN8 7103 broad.mit.edu 37 12 71523182 71523182 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:71523182A>G uc009zrt.1 - 6 751 c.589T>C c.(589-591)Ttc>Ctc p.F197L TSPAN8_uc001swk.1_Missense_Mutation_p.F197L|TSPAN8_uc001swj.1_Missense_Mutation_p.F197L NM_004616 NP_004607 P19075 TSN8_HUMAN Homo sapiens tetraspanin 8 (TSPAN8), mRNA. 197 protein glycosylation integral to membrane|lysosome signal transducer activity breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) TCTTTTATGAAAGAAATACAG 0.259000 52 5 0 0 1 0 0 COASY 80347 broad.mit.edu 37 17 40716743 40716744 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:40716743_40716744CC>TT uc010cyj.3 + 5 1353_1354 c.1151_1152CC>TT c.(1150-1152)ccc>cTT p.P384L COASY_uc002hzz.3_Missense_Mutation_p.P355L|COASY_uc002iab.3_Missense_Mutation_p.P60L|COASY_uc002iad.3_Missense_Mutation_p.P355L|COASY_uc002iac.3_Missense_Mutation_p.P355L|COASY_uc002iae.3_Missense_Mutation_p.P150L|MLX_uc002iaf.3_5'Flank|MLX_uc002iag.3_5'Flank|MLX_uc002iah.3_5'Flank NM_001042532 NP_079509 Q13057 COASY_HUMAN Homo sapiens CoA synthase (COASY), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA. 355 DPCK. coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) CCAGAGCTCCCCACATGTCTCT 0.574000 119 20 0 0 1 0 0 SLC17A1 6568 broad.mit.edu 37 6 25826824 25826824 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:25826824G>A uc003nfh.4 - 2 188 c.72C>T c.(70-72)ttC>ttT p.F24F SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Silent_p.F24F|SLC17A1_uc010jqc.1_Silent_p.F22F NM_005074 NP_005065 Q14916 NPT1_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA. 24 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 AGTGCACAAGGAAAGACAATC 0.413000 19 6 0 0 1 0 0 ZNF791 163049 broad.mit.edu 37 19 12739938 12739939 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:12739938_12739939CC>TT uc002mua.2 + 3 1757_1758 c.1595_1596CC>TT c.(1594-1596)gcc>gTT p.A532V ZNF791_uc010xml.1_Missense_Mutation_p.A500V|ZNF791_uc010dyu.1_Missense_Mutation_p.A423V|ZNF791_uc010xmm.1_Missense_Mutation_p.A423V NM_153358 NP_699189 Q3KP31 ZN791_HUMAN Homo sapiens zinc finger protein 791 (ZNF791), mRNA. 532 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3) 19 TGTGGGAAGGCCTTTAGTCTTC 0.396000 85 10 0 0 1 0 0 KIAA1377 57562 broad.mit.edu 37 11 101818850 101818850 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:101818850C>T uc001pgm.3 + 3 753 c.483C>T c.(481-483)tcC>tcT p.S161S KIAA1377_uc001pgn.3_Silent_p.S117S|KIAA1377_uc009yxa.1_5'UTR NM_020802 NP_065853 Q9P2H0 K1377_HUMAN Homo sapiens KIAA1377 (KIAA1377), mRNA. 161 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) TTCCCTTTTCCCGTAGACCAA 0.343000 16 3 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48525002 48525002 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:48525002G>A uc003gyh.1 - 53 8042 c.7437C>T c.(7435-7437)aaC>aaT p.N2479N FRYL_uc003gyf.1_5'Flank|FRYL_uc003gyg.1_Silent_p.N1175N|FRYL_uc003gyi.1_Silent_p.N1367N|FRYL_uc003gyj.1_Silent_p.N774N NM_015030 NP_055845 O94915 FRYL_HUMAN Homo sapiens FRY-like (FRYL), mRNA. 2479 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 GATTGGTGAGGTTCAGGCTGG 0.522000 36 6 0 0 1 0 0 NSMCE2 286053 broad.mit.edu 37 8 126379116 126379116 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:126379116C>T uc003yrw.2 + 7 961 c.733C>T c.(733-735)Cat>Tat p.H245Y NM_173685 NP_775956 Q96MF7 NSE2_HUMAN Homo sapiens non-SMC element 2, MMS21 homolog (S. cerevisiae) (NSMCE2), mRNA. 245 DNA recombination|DNA repair nucleus ligase activity|zinc ion binding breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 9 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) AAGACATCGTCATTCCGAGTA 0.498000 143 13 0 0 1 0 0 TNFRSF17 608 broad.mit.edu 37 16 12061600 12061600 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:12061600G>A uc002dbv.3 + 2 669 c.451G>A c.(451-453)Gaa>Aaa p.E151K TNFRSF17_uc010buy.3_3'UTR|TNFRSF17_uc010buz.3_Missense_Mutation_p.E102K NM_001192 NP_001183 Q02223 TNR17_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 17 (TNFRSF17), mRNA. 151 cell proliferation|multicellular organismal development endomembrane system|integral to membrane|plasma membrane large_intestine(3)|lung(3) 6 AGCTATGGAGGAAGGCGCAAC 0.498000 T IL2 intestinal T-cell lymphoma 46 10 0 0 1 0 0 ACAP1 9744 broad.mit.edu 37 17 7251514 7251514 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:7251514G>A uc002ggd.2 + 15 1688 c.1482G>A c.(1480-1482)gtG>gtA p.V494V NM_014716 NP_055531 Q15027 ACAP1_HUMAN Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA. 494 Arf-GAP.|Required for interaction with GULP1. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 CCATGGCAGTGAAGAAACCAG 0.607000 11 4 0 0 1 0 0 TMEM199 147007 broad.mit.edu 37 17 26687822 26687822 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:26687822C>T uc010wah.1 + 4 490 c.483C>T c.(481-483)ttC>ttT p.F161F TMEM199_uc002hba.3_Silent_p.F161F NM_152464 NP_689677 Q8N511 TM199_HUMAN Homo sapiens transmembrane protein 199 (TMEM199), mRNA. 161 integral to membrane endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) TTGCTGCCTTCGTCTGCACTT 0.527000 91 7 0 0 1 0 0 C3orf56 285311 broad.mit.edu 37 3 126915913 126915913 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:126915913C>T uc003eji.1 + 1 625 c.385C>T c.(385-387)Cct>Tct p.P129S RecName: Full=Putative uncharacterized protein C3orf56; breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) CAACCTATTTCCTTTCCCCAT 0.607000 165 30 0 0 1 0 0 NCOA5 57727 broad.mit.edu 37 20 44691067 44691067 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:44691067G>A uc002xrd.3 - 6 2140 c.1612C>T c.(1612-1614)Cca>Tca p.P538S NCOA5_uc002xrc.3_3'UTR|NCOA5_uc002xre.3_Missense_Mutation_p.P538S NM_020967 NP_066018 Q9HCD5 NCOA5_HUMAN Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA. 538 Transcription activation. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus ATP binding|aminoacyl-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) TGTACACTTGGATTGTCAAAG 0.572000 34 4 0 0 1 0 0 IBA57 200205 broad.mit.edu 37 1 228363073 228363073 + Silent SNP C T T rs142734560 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:228363073C>T uc001hsl.4 + 2 1019 c.930C>T c.(928-930)ttC>ttT p.F310F IBA57_uc010pvw.2_Silent_p.F117F NM_001010867 NP_001010867 Q5T440 CAF17_HUMAN Homo sapiens IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) (IBA57), mRNA. 310 glycine catabolic process|heme biosynthetic process mitochondrion aminomethyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1) 11 TGGGCAAGTTCAGGGCTGGCC 0.637000 52 18 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194063279 194063279 + Silent SNP C T T rs141207947 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:194063279C>T uc003fts.3 - 1 243 c.153G>A c.(151-153)acG>acA p.T51T CPN2_uc021xix.1_Silent_p.T51T NM_001080513 NP_001073982 P22792 CPN2_HUMAN Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA. 51 protein stabilization extracellular region enzyme regulator activity p.T51T(2) breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) TGATGTTTTTCGTATATGGCG 0.537000 88 5 0 0 1 0 0 AGAP6 414189 broad.mit.edu 37 10 51769545 51769545 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:51769545C>T uc001jix.4 + 7 2058 c.1660C>T c.(1660-1662)Ccc>Tcc p.P554S DQ577099_uc021pqm.1_5'Flank NM_001077665 NP_001071133 C9IYN2 C9IYN2_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA. 554 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 GCAGACAAAACCCTCAGAAAA 0.532000 115 16 0 0 1 0 0 LPO 4025 broad.mit.edu 37 17 56320356 56320356 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:56320356C>T uc002ivt.3 + 1 332 c.16C>T c.(16-18)Cat>Tat p.H6Y LPO_uc010dco.2_Missense_Mutation_p.H6Y|LPO_uc010wnr.1_Missense_Mutation_p.H6Y|LPO_uc010wns.2_5'UTR|LPO_uc010dcp.3_Missense_Mutation_p.H6Y NM_006151 NP_006142 P22079 PERL_HUMAN Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA. 6 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 GGTCCTTCTCCATCTCCCAGC 0.537000 187 7 0 0 1 0 0 SLC22A16 85413 broad.mit.edu 37 6 110746092 110746092 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:110746092G>A uc003puf.3 - 7 1785 c.1718C>T c.(1717-1719)tCt>tTt p.S573F SLC22A16_uc003pue.3_Missense_Mutation_p.S554F NM_033125 NP_149116 Q86VW1 S22AG_HUMAN Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA. 573 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) ACCAAGACCAGAATCCCTGGG 0.408000 76 6 0 0 1 0 0 LRRC52 440699 broad.mit.edu 37 1 165513786 165513786 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:165513786C>T uc001gde.2 + 0 309 c.253C>T c.(253-255)Cag>Tag p.Q85* LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA. 85 integral to membrane p.C84F(1) NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1) 18 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) TTTGGACTGTCAGAACAACCG 0.493000 118 26 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103067337 103067337 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:103067337T>C uc002tbx.3 + 10 1724 c.1240T>C c.(1240-1242)Tat>Cat p.Y414H IL18RAP_uc010fiz.3_Missense_Mutation_p.Y272H NM_003853 NP_003844 O95256 I18RA_HUMAN Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA. 414 TIR. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 TTTCGTATCCTATGCAAAATG 0.338000 65 6 0 0 1 0 0 LIPF 8513 broad.mit.edu 37 10 90438337 90438337 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:90438337G>A uc001kfg.2 + 9 1210 c.1096G>A c.(1096-1098)Gag>Aag p.E366K LIPF_uc001kfh.2_Missense_Mutation_p.E343K|LIPF_uc010qmt.2_Missense_Mutation_p.E376K|LIPF_uc010qmu.2_Missense_Mutation_p.E333K NM_004190 NP_004181 P07098 LIPG_HUMAN Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA. 366 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) TTACCACAAGGAGATTCCTTT 0.418000 45 5 0 0 1 0 0 KLHL6 89857 broad.mit.edu 37 3 183225903 183225904 + Missense_Mutation DNP GG AC AC TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:183225903_183225904GG>AC uc003flr.3 - 2 910_911 c.852_853CC>GT c.(850-855)tgccca>tgGTca p.284_285CP>WS KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Missense_Mutation_p.282_283CP>WS NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA. 284 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) AAGACCTCTGGGCACTGCCTGA 0.530000 28 9 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32046887 32046887 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:32046887C>T uc003nzl.2 - 10 4500 c.4298G>A c.(4297-4299)gGg>gAg p.G1433E NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1520 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GTACTTGTGCCCGGGCTCTAG 0.687000 197 37 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159409980 159409980 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:159409980G>A uc010piv.2 + 0 469 c.432G>A c.(430-432)atG>atA p.M144I BC038194_uc001fts.4_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA. 144 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TGAGATACATGGTTATTATGA 0.468000 35 9 0 0 1 0 0 LRRC48 83450 broad.mit.edu 37 17 17880975 17880975 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:17880975C>T uc021trj.1 + 3 442 c.63C>T c.(61-63)gcC>gcT p.A21A LRRC48_uc010vxe.2_Silent_p.A21A|LRRC48_uc021tri.1_Silent_p.A21A|LRRC48_uc021trk.1_Silent_p.A21A NM_001130090 NP_112584 Q9H069 LRC48_HUMAN Homo sapiens leucine rich repeat containing 48 (LRRC48), transcript variant 1, mRNA. 21 cytoplasm breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1) 7 all_neural(463;0.228) TCAAGCTGGCCGTCGGGGACC 0.602000 31 7 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56342222 56342222 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:56342222G>A uc003pcy.4 - 71 13835 c.13727C>T c.(13726-13728)aCc>aTc p.T4576I NM_015548 NP_056363 Q03001 DYST_HUMAN Homo sapiens dystonin (DST), transcript variant 1eA, mRNA. 6988 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AGCCAAAACGGTGTCGCCCAT 0.453000 68 7 0 0 1 0 0 PDLIM5 10611 broad.mit.edu 37 4 95497136 95497136 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:95497136G>A uc003hti.3 + 4 812 c.661G>A c.(661-663)Gca>Aca p.A221T PDLIM5_uc003htf.3_Intron|PDLIM5_uc003htg.3_Missense_Mutation_p.A112T|PDLIM5_uc011cdx.1_Missense_Mutation_p.A112T|PDLIM5_uc003htj.3_Intron|PDLIM5_uc003htk.3_Missense_Mutation_p.A112T|PDLIM5_uc011cdy.2_Missense_Mutation_p.A99T|PDLIM5_uc003hth.3_Missense_Mutation_p.A112T NM_006457 NP_006448 Q96HC4 PDLI5_HUMAN Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA. 221 regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) TCAGGAGCTAGCAGAGGGACA 0.507000 21 5 0 0 1 0 0 TNFSF10 8743 broad.mit.edu 37 3 172224571 172224571 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:172224571G>A uc003fid.3 - 4 680 c.557C>T c.(556-558)tCc>tTc p.S186F TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_3'UTR NM_003810 NP_003801 P50591 TNF10_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA. 186 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding p.Y185C(1) breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) GTATGTTTGGGAATAGATGTA 0.383000 61 4 0 0 1 0 0 PLCD1 5333 broad.mit.edu 37 3 38051693 38051693 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:38051693G>A uc003chm.3 - 6 1483 c.1129C>T c.(1129-1131)Cac>Tac p.H377Y PLCD1_uc003chn.3_Missense_Mutation_p.H356Y NM_001130964 NP_001124436 P51178 PLCD1_HUMAN Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA. 356 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm GTPase activating protein binding|calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) GTATAGCCGTGGTAGATGATT 0.607000 72 9 0 0 1 0 0 PAGE3 139793 broad.mit.edu 37 X 55290291 55290291 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:55290291C>T uc022bxs.1 - 1 c.241G>A PAGE3_uc011mon.2_Non-coding_Transcript Homo sapiens P antigen family, member 3 (prostate associated) (PAGE3), non-coding RNA. endometrium(1)|kidney(1)|lung(1) 3 TCTTGATCATCTCTTCTTTCT 0.338000 15 6 0 0 1 0 0 SMTNL1 219537 broad.mit.edu 37 11 57310494 57310494 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:57310494G>A uc021qjh.1 + 0 381 c.379G>A c.(379-381)Gaa>Aaa p.E127K NM_001105565 NP_001099035 E9PPJ3 E9PPJ3_HUMAN Homo sapiens smoothelin-like 1 (SMTNL1), mRNA. 127 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 AGAGGCTGAGGAAAAGGAGAG 0.512000 6 4 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156590418 156590418 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:156590418C>T uc003lwn.3 - 1 958 c.858G>A c.(856-858)ggG>ggA p.G286G NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 286 Ala-rich. nucleus p.G286G(2) NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCATTGCTGCCCCTGCTATTG 0.567000 167 12 0 0 1 0 0 VARS 7407 broad.mit.edu 37 6 31760544 31760544 + Silent SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31760544A>G uc003nxe.3 - 3 1074 c.651T>C c.(649-651)tcT>tcC p.S217S VARS_uc011doi.1_Non-coding_Transcript NM_006295 NP_006286 P26640 SYVC_HUMAN Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA. 217 GST C-terminal. translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CTGGCTGATGAGAGAGAGGCC 0.532000 108 11 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10204913 10204913 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:10204913C>T uc002gmk.1 - 39 5865 c.5775G>A c.(5773-5775)agG>agA p.R1925R NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 1925 muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GGCTCTTGGCCCTCAGCTTGT 0.587000 100 6 0 0 1 0 0 OR1A2 26189 broad.mit.edu 37 17 3100883 3100883 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:3100883A>G uc002fvd.1 + 0 71 c.71A>G c.(70-72)aAt>aGt p.N24S NM_012352 NP_036484 Q9Y585 OR1A2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA. 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 CAAGAACAGAATAATGTCTTC 0.413000 64 4 0 0 1 0 0 RUFY4 285180 broad.mit.edu 37 2 218947958 218947958 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:218947958G>A uc010fvl.2 + 10 1999 c.1481G>A c.(1480-1482)aGg>aAg p.R494K RUFY4_uc002vgw.3_Missense_Mutation_p.R321K NM_198483 NP_940885 Q6ZNE9 RUFY4_HUMAN Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA. 494 metal ion binding endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GCCATGAAGAGGCGGGTGTTG 0.587000 70 7 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22891872 22891872 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:22891872G>A uc001wdu.2 + 1 249 c.184G>A c.(184-186)Ggt>Agt p.G62S TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron|AK093552_uc001wds.1_Intron|TCRA_uc001wdv.4_Splice_Site_p.D62_splice|AK125397_uc001wdt.1_Intron SubName: Full=HDV102S1; Flags: Fragment; GAAGACCCAAGGTAACACAAT 0.458000 17 10 0 0 1 0 0 STK17B 9262 broad.mit.edu 37 2 197004445 197004445 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:197004445G>A uc002utk.3 - 6 1059 c.735C>T c.(733-735)ctC>ctT p.L245L STK17B_uc010fsh.3_Silent_p.L245L NM_004226 NP_004217 O94768 ST17B_HUMAN Homo sapiens serine/threonine kinase 17b (STK17B), mRNA. 245 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity p.L245L(2) breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10) 15 OV - Ovarian serous cystadenocarcinoma(117;0.141) GAGAAATATTGAGGTATGTTT 0.348000 42 9 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23937634 23937634 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:23937634C>T uc002nrk.4 - 2 359 c.217G>A c.(217-219)Gaa>Aaa p.E73K ZNF681_uc002nrl.4_Missense_Mutation_p.E4K|ZNF681_uc002nrj.4_Missense_Mutation_p.E4K|ZNF681_uc002nrm.1_Non-coding_Transcript NM_138286 NP_612143 Q96N22 ZN681_HUMAN Homo sapiens zinc finger protein 681 (ZNF681), mRNA. 73 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CCTGGGGGTTCGGCCACCATC 0.418000 50 12 0 0 1 0 0 LPO 4025 broad.mit.edu 37 17 56332314 56332314 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:56332314C>T uc002ivt.3 + 8 1564 c.1248C>T c.(1246-1248)atC>atT p.I416I LPO_uc010wns.2_Silent_p.I357I|LPO_uc010dcp.3_Silent_p.I333I|LPO_uc010dcq.3_Silent_p.I87I|LPO_uc010dcr.3_5'UTR NM_006151 NP_006142 P22079 PERL_HUMAN Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA. 416 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 CCCGGAAAATCCTGGGAGCCT 0.602000 73 25 0 0 1 0 0 NAPRT1 93100 broad.mit.edu 37 8 144659271 144659271 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:144659271G>A uc003yyo.4 - 4 670 c.645C>T c.(643-645)ttC>ttT p.F215F NAPRT1_uc003yym.4_Silent_p.F215F|NAPRT1_uc003yyn.4_Silent_p.F215F|NAPRT1_uc011lkh.2_Silent_p.F215F Q6XQN6 PNCB_HUMAN Homo sapiens nicotinate phosphoribosyltransferase domain containing 1 (NAPRT1), mRNA. 215 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process Golgi apparatus|cytosol|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) AGGAAGTGACGAAGGAGTGGG 0.672000 43 4 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56468774 56468774 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:56468774G>A uc021wzo.1 - 0 402 c.262C>T c.(262-264)Cga>Tga p.R88* ERC2_uc003dhr.1_Nonsense_Mutation_p.R88* NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 88 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TATACAGCTCGATTTGTAGCC 0.498000 87 7 0 0 1 0 0 DIAPH2 1730 broad.mit.edu 37 X 96212846 96212846 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:96212846C>T uc004efu.4 + 15 2030 c.1634C>T c.(1633-1635)tCa>tTa p.S545L DIAPH2_uc004eft.4_Missense_Mutation_p.S545L NM_006729 NP_006720 O60879 DIAP2_HUMAN Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA. 545 Poly-Ser. cell differentiation|cytokinesis|multicellular organismal development|oogenesis Golgi apparatus|cytosol|early endosome|mitochondrion|nucleolus Rho GTPase binding|receptor binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 CTCTCAAGTTCATCAGGAATT 0.433000 7 3 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15702250 15702250 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:15702250G>A uc002ddr.3 - 20 4287 c.4080C>T c.(4078-4080)ctC>ctT p.L1360L KIAA0430_uc002ddq.3_Silent_p.L1194L|KIAA0430_uc010uzv.2_Silent_p.L1357L|KIAA0430_uc010uzw.2_Silent_p.L1360L NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA. 1359 peroxisome RNA binding|nucleotide binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 ATTCTGTAAGGAGATCTGTCA 0.423000 39 5 0 0 1 0 0 PEX11B 8799 broad.mit.edu 37 1 145518256 145518256 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:145518256G>A uc001eny.2 + 2 594 c.358G>A c.(358-360)Gcc>Acc p.A120T GNRHR2_uc009wiv.2_5'Flank|GNRHR2_uc010oyt.1_5'Flank|GNRHR2_uc001enx.3_5'Flank|PEX11B_uc010oyu.2_Missense_Mutation_p.A106T NM_003846 NP_003837 O96011 PX11B_HUMAN Homo sapiens peroxisomal biogenesis factor 11 beta (PEX11B), transcript variant 1, mRNA. 120 peroxisome fission|signal transduction integral to peroxisomal membrane protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGAGAAGTGGGCCCAGCGTTC 0.453000 117 12 0 0 1 0 0 LCA5L 150082 broad.mit.edu 37 21 40795084 40795084 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:40795084C>T uc002yxu.3 - 4 968 c.655G>A c.(655-657)Gaa>Aaa p.E219K LCA5L_uc002yxv.3_Missense_Mutation_p.E219K|LCA5L_uc021wji.1_Missense_Mutation_p.E81K|LCA5L_uc002yxw.2_Missense_Mutation_p.E219K|LCA5L_uc002yxy.3_Non-coding_Transcript NM_152505 NP_689718 O95447 LCA5L_HUMAN Homo sapiens Leber congenital amaurosis 5-like (LCA5L), mRNA. 219 breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 24 Prostate(19;1.2e-06) CTTTCCTTTTCCTGGGATTTC 0.338000 39 9 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52398945 52398945 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:52398945C>T uc011bef.2 + 33 5689 c.5428C>T c.(5428-5430)Ccc>Tcc p.P1810S NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 1810 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CGACCTGTTTCCCACCATCAA 0.607000 65 15 0 0 1 0 0 FUS 2521 broad.mit.edu 37 16 31200472 31200472 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:31200472C>T uc002ebf.3 + 8 966 c.861C>T c.(859-861)atC>atT p.I287I FUS_uc002ebe.2_Silent_p.I283I|FUS_uc002ebg.3_Silent_p.I82I|FUS_uc002ebh.3_Silent_p.I286I|FUS_uc010caj.1_Intron NM_004960 NP_004951 P35637 FUS_HUMAN Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA. 287 RRM. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158) breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1) 22 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) ACAACACCATCTTTGTGCAAG 0.393000 T """DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1""" """liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma""" 99 14 0 0 1 0 0 DRD2 1813 broad.mit.edu 37 11 113281573 113281573 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:113281573A>G uc001pnz.3 - 6 1529 c.1208T>C c.(1207-1209)aTc>aCc p.I403T DRD2_uc010rwv.2_Missense_Mutation_p.I402T|DRD2_uc001poa.4_Missense_Mutation_p.I403T|DRD2_uc001pob.4_Missense_Mutation_p.I374T NM_000795 NP_000786 P14416 DRD2_HUMAN Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA. 403 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) GACAGGCGGGATGTTGCAGTC 0.572000 61 4 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12958122 12958122 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:12958122G>A uc002mvm.3 + 4 474 c.346G>A c.(346-348)Gag>Aag p.E116K MAST1_uc021upp.1_5'UTR NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA. 116 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CTCCTCCCAGGAGCGCCTTCA 0.662000 OREG0025277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 62 7 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50544916 50544916 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:50544916G>A uc001zxz.3 - 7 1185 c.843C>T c.(841-843)ttC>ttT p.F281F HDC_uc001zxy.3_Silent_p.F24F|HDC_uc010uff.2_Silent_p.F281F NM_002112 NP_002103 P19113 DCHS_HUMAN Homo sapiens histidine decarboxylase (HDC), mRNA. 281 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) CGGGGCACAGGAAGGCAGTGC 0.562000 26 8 0 0 1 0 0 PRLHR 2834 broad.mit.edu 37 10 120353731 120353731 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:120353731G>A uc001ldp.1 - 1 1165 c.1026C>T c.(1024-1026)ttC>ttT p.F342F PRLHR_uc021pzm.1_Silent_p.F342F NM_004248 NP_004239 P49683 PRLHR_HUMAN Homo sapiens prolactin releasing hormone receptor (PRLHR), mRNA. 342 female pregnancy integral to plasma membrane neuropeptide Y receptor activity large_intestine(2)|lung(8)|ovary(1)|skin(1) 12 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) GCTCCTCGCGGAAGCTGTCGT 0.607000 45 6 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104641592 104641592 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:104641592C>T uc001yos.4 + 11 2467 c.2467C>T c.(2467-2469)Cgc>Tgc p.R823C NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN Homo sapiens kinesin family member 26A (KIF26A), mRNA. 823 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) TGCCCTGAGCCGCCACCGGCC 0.687000 20 6 0 0 1 0 0 TDO2 6999 broad.mit.edu 37 4 156832720 156832720 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:156832720C>T uc003ipf.1 + 6 754 c.690C>T c.(688-690)atC>atT p.I230I NM_005651 NP_005642 P48775 T23O_HUMAN Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA. 230 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) AAAAAAATATCACCAGAGGCC 0.308000 22 4 0 0 1 0 0 RBM19 9904 broad.mit.edu 37 12 114385141 114385141 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:114385141G>A uc009zwi.2 - 10 1549 c.1405C>T c.(1405-1407)Cag>Tag p.Q469* RBM19_uc001tvn.4_Nonsense_Mutation_p.Q469*|RBM19_uc001tvm.3_Nonsense_Mutation_p.Q469* NM_001146699 NP_057280 Q9Y4C8 RBM19_HUMAN Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA. 469 RRM 3. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm RNA binding|nucleotide binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) GGCCTCACCTGGAATACCTGC 0.602000 55 7 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9380002 9380002 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:9380002G>A uc003jek.2 - 2 769 c.57C>T c.(55-57)ctC>ctT p.L19L NM_003966 NP_003957 Q13591 SEM5A_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA. 19 cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 CTGGGTGGGCGAGTCTCCACA 0.562000 65 12 0 0 1 0 0 CIB3 117286 broad.mit.edu 37 19 16280539 16280540 + Missense_Mutation DNP AG GC GC TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:16280539_16280540AG>GC uc002nds.3 - 2 99_100 c.99_100CT>GC c.(97-102)cgctac>cgGCac p.Y34H CIB3_uc010eae.3_Intron|CIB3_uc010eaf.3_Intron|CIB3_uc010eag.3_Intron NM_054113 NP_473454 Q96Q77 CIB3_HUMAN Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA. 34 calcium ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 AGGTCCTGGTAGCGATAGAAGA 0.569000 23 7 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42606538 42606538 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:42606538G>A uc003bcj.1 - 0 4908 c.4774C>T c.(4774-4776)Cag>Tag p.Q1592* TCF20_uc003bck.1_Nonsense_Mutation_p.Q1592* NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA. 1592 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TTCCTCGGCTGGGCCCCAGGC 0.517000 103 5 0 0 1 0 0 FCRL6 343413 broad.mit.edu 37 1 159783291 159783291 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:159783291C>T uc001fud.4 + 6 1064 c.1022C>T c.(1021-1023)tCc>tTc p.S341F FCRL6_uc001fuc.2_Missense_Mutation_p.S348F|FCRL6_uc009wsz.1_Missense_Mutation_p.S246F|FCRL6_uc009wta.3_Missense_Mutation_p.S341F NM_001004310 NP_001004310 Q6DN72 FCRL6_HUMAN Homo sapiens Fc receptor-like 6 (FCRL6), mRNA. 341 integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) CCCCTTCCATCCCAGATACCA 0.562000 58 9 0 0 1 0 0 FRRS1 391059 broad.mit.edu 37 1 100183020 100183020 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:100183020G>A uc001dsh.1 - 10 1784 c.1182C>T c.(1180-1182)ttC>ttT p.F394F NM_001013660 NP_001013682 Q6ZNA5 FRRS1_HUMAN Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA. 394 Cytochrome b561. electron transport chain|transport integral to membrane ferric-chelate reductase activity|metal ion binding p.R393R(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 26 all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201) Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206) CTGGCTTGAAGAACCGGGCAA 0.408000 86 4 0 0 1 0 0 SGK2 10110 broad.mit.edu 37 20 42195097 42195097 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:42195097C>T uc002xkv.3 + 0 361 c.142C>T c.(142-144)Ctc>Ttc p.L48F SGK2_uc002xkr.3_Intron|SGK2_uc010ggm.3_Intron|SGK2_uc002xkt.3_Intron|SGK2_uc002xku.3_Intron|SGK2_uc002xkq.1_Intron NM_016276 NP_733794 Q9HBY8 SGK2_HUMAN Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA. 48 intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) ATGCCTGCTCCTCCCTGTCCC 0.617000 82 7 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75893709 75893709 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:75893709C>T uc021zbv.1 - 7 1184 c.1149G>A c.(1147-1149)ggG>ggA p.G383G COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Silent_p.G383G|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_Silent_p.G41G NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 383 Fibronectin type-III 2. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TTGTCTGAGGCCCCACACTCA 0.507000 29 6 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92105548 92105548 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:92105548G>A uc001xzs.1 - 15 1619 c.1479C>T c.(1477-1479)ttC>ttT p.F493F CATSPERB_uc010aub.1_Silent_p.F15F NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 493 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) AGTATAATGTGAAAATTCTCT 0.398000 14 3 0 0 1 0 0 ZNF519 162655 broad.mit.edu 37 18 14124359 14124359 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:14124359G>A uc002kst.2 - 1 333 c.120C>T c.(118-120)ctC>ctT p.L40L ZNF519_uc002ksr.2_Intron|ZNF519_uc002ksq.2_Non-coding_Transcript NM_145287 NP_660330 Q8TB69 ZN519_HUMAN Homo sapiens zinc finger protein 519 (ZNF519), transcript variant 1, mRNA. 40 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18 CCAGGGAGACGAGGTTTCTGT 0.413000 41 4 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140188109 140188109 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140188109C>T uc003lhi.2 + 0 1438 c.1337C>T c.(1336-1338)gCt>gTt p.A446V PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.A446V|PCDHAC2_uc011daa.2_Missense_Mutation_p.A446V NM_018907 NP_061730 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA. 460 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.I446M(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGAGGTGGCTGATGTGAAC 0.642000 73 12 0 0 1 0 0 WDR18 57418 broad.mit.edu 37 19 990244 990244 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:990244C>T uc002lqm.1 + 3 503 c.477C>T c.(475-477)tcC>tcT p.S159S NM_024100 NP_077005 Q9BV38 WDR18_HUMAN Homo sapiens WD repeat domain 18 (WDR18), mRNA. 159 endometrium(1)|kidney(2)|lung(2)|skin(2) 7 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGACCCCTCCAGGATTCCGG 0.726000 21 4 0 0 1 0 0 SLC5A9 200010 broad.mit.edu 37 1 48688549 48688549 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:48688549C>T uc001crn.2 + 0 193 c.141C>T c.(139-141)ttC>ttT p.F47F SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Silent_p.F47F|SLC5A9_uc010omt.1_Silent_p.F40F|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR NM_001135181 NP_001128653 Q2M3M2 SC5A9_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA. 47 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 ACTTTGTCTTCGTCATTGCTG 0.602000 24 4 0 0 1 0 0 RIN2 54453 broad.mit.edu 37 20 19977361 19977361 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:19977361C>T uc002wro.2 + 10 2535 c.2386C>T c.(2386-2388)Ctg>Ttg p.L796L RIN2_uc010gcu.2_Silent_p.L314L|RIN2_uc010gcv.2_Silent_p.L541L NM_001242581 NP_001229510 Q8WYP3 RIN2_HUMAN Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA. 747 Ras-associating. endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 AGCACTTTCTCTGATAAAGAA 0.522000 29 5 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31598300 31598300 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:31598300G>A uc002rnv.1 - 14 1627 c.1548C>T c.(1546-1548)ttC>ttT p.F516F NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 516 FFF -> LLL (in Ref. 3; AAA75287). purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) AGAACTTGAAGAAGAAGCTGA 0.597000 82 29 0 0 1 0 0 ACRBP 84519 broad.mit.edu 37 12 6749307 6749307 + Silent SNP C T T rs146172116 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:6749307C>T uc001qpu.1 - 7 1392 c.1344G>A c.(1342-1344)acG>acA p.T448T LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Silent_p.T415T NM_032489 NP_115878 Q8NEB7 ACRBP_HUMAN Homo sapiens acrosin binding protein (ACRBP), mRNA. 448 acrosomal vesicle|extracellular region NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1) 17 CACAGCCTTTCGTGGCAAGCC 0.562000 47 4 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89398588 89398588 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:89398588G>A uc010upo.1 + 11 3146 c.2772G>A c.(2770-2772)gaG>gaA p.E924E ACAN_uc010upp.1_Silent_p.E924E|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 924 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGGATGAAGAGAGAATTGAGT 0.577000 30 5 0 0 1 0 0 ABCG5 64240 broad.mit.edu 37 2 44065740 44065740 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:44065740C>T uc002rtn.3 - 0 219 c.79G>A c.(79-81)Ggg>Agg p.G27R ABCG5_uc002rto.3_5'UTR|ABCG5_uc002rtp.3_5'UTR|ABCG8_uc002rtq.3_5'Flank|ABCG8_uc010yoa.2_5'Flank NM_022436 NP_071881 Q9H222 ABCG5_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA. 27 cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GCAGGAGCCCCCTCCAGGGAG 0.647000 262 16 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15850300 15850300 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:15850300G>A uc002ddx.3 - 14 1775 c.1668C>T c.(1666-1668)ttC>ttT p.F556F MYH11_uc002ddv.3_Silent_p.F556F|MYH11_uc002ddw.3_Silent_p.F549F|MYH11_uc002ddy.3_Silent_p.F549F|MYH11_uc010bvg.3_Silent_p.F381F|MYH11_uc002dea.1_Silent_p.F255F NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 549 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GCTTCTCCACGAAAGACTTGT 0.562000 T CBFB AML OREG0023636 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 5 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15281175 15281175 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:15281175C>T uc002nan.3 - 26 5157 c.5081G>A c.(5080-5082)cGg>cAg p.R1694Q NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Homo sapiens notch 3 (NOTCH3), mRNA. 1694 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CACGGGTTCCCGCCGGCCCTT 0.667000 44 5 0 0 1 0 0 BARX2 8538 broad.mit.edu 37 11 129246117 129246117 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:129246117G>A uc001qfc.4 + 1 237 c.187_splice c.e1+1 p.G63_splice NM_003658 NP_003649 Q9UMQ3 BARX2_HUMAN Homo sapiens BARX homeobox 2 (BARX2), mRNA. 63 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) TTCCTGTACGGGTAAGACGCT 0.572000 OREG0021508 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 135 10 0 0 1 0 0 KCNA1 3736 broad.mit.edu 37 12 5020952 5020952 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:5020952C>T uc001qnh.3 + 1 1513 c.408C>T c.(406-408)ttC>ttT p.F136F KCNA1_uc021qts.1_Silent_p.F136F NM_000217 NP_000208 Q09470 KCNA1_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA. 136 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ACGAGGGCTTCATCAAGGAGG 0.637000 51 10 0 0 1 0 0 PALLD 23022 broad.mit.edu 37 4 169825027 169825027 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:169825027G>A uc011cjx.2 + 14 2803 c.2592G>A c.(2590-2592)ggG>ggA p.G864G CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Silent_p.G847G|PALLD_uc003irv.3_Silent_p.G465G|PALLD_uc003irw.3_Silent_p.G360G|PALLD_uc003irx.3_Silent_p.G73G NM_001166108 NP_001159580 Q8WX93 PALLD_HUMAN Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA. 1071 Interaction with ACTN.|Pro-rich. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) ATGATGATGGGAATTATACAA 0.463000 Pancreatic Cancer, Familial Clustering of 44 8 0 0 1 0 0 RPL26L1 51121 broad.mit.edu 37 5 172395530 172395530 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:172395530C>T uc003mcc.3 + 2 279 c.237C>T c.(235-237)gtC>gtT p.V79V NM_016093 NP_057177 Q9UNX3 RL26L_HUMAN Homo sapiens ribosomal protein L26-like 1 (RPL26L1), mRNA. 79 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1) 7 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGAAATATGTCATCTACATCG 0.498000 101 9 0 0 1 0 0 CNDP1 84735 broad.mit.edu 37 18 72244185 72244185 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:72244185A>T uc002llq.3 + 7 1134 c.923A>T c.(922-924)aAt>aTt p.N308I CNDP1_uc002lls.3_Missense_Mutation_p.N111I NM_032649 NP_116038 Q96KN2 CNDP1_HUMAN Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA. 308 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) GAGGAAATAAATACATACAAA 0.438000 45 6 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7887787 7887787 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:7887787T>G uc001aop.3 + 16 3022 c.2798T>G c.(2797-2799)tTg>tGg p.L933W PER3_uc009vmg.1_Missense_Mutation_p.L933W|PER3_uc009vmh.1_Missense_Mutation_p.L926W|PER3_uc001aoo.3_Missense_Mutation_p.L925W|PER3_uc010nzw.2_Missense_Mutation_p.L614W NM_016831 NP_058515 P56645 PER3_HUMAN Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA. 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) AGCTCACCCTTGCAGTTAAAC 0.517000 58 17 0 0 1 0 0 SYCE1 93426 broad.mit.edu 37 10 135372836 135372836 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:135372836G>A uc001lno.2 - 2 270 c.165C>T c.(163-165)gtC>gtT p.V55V CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_5'UTR|SYCE1_uc009ybn.2_Silent_p.V55V|SYCE1_uc001lnn.2_Silent_p.V19V NM_001143764 NP_001137236 Q8N0S2 SYCE1_HUMAN Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA. 55 cell division central element p.S54L(1)|p.S54S(1) breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1) 19 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GGTTAATCAGGACCTCAACTC 0.592000 42 9 0 0 1 0 0 FIBIN 387758 broad.mit.edu 37 11 27016125 27016125 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:27016125G>A uc001mrd.3 + 0 498 c.52G>A c.(52-54)Ggc>Agc p.G18S NM_203371 NP_976249 Q8TAL6 FIBIN_HUMAN Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA. 18 Golgi apparatus|extracellular region breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 CCTGTGTCAAGGCTACTTCGA 0.527000 60 4 0 0 1 0 0 RPAP1 26015 broad.mit.edu 37 15 41819267 41819267 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:41819267C>T uc001zod.3 - 14 1871 c.1747_splice c.e14-1 p.V583_splice NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA. 583 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) ACTCCAGGACCTATGGGAGAC 0.552000 51 5 0 0 1 0 0 SCUBE2 57758 broad.mit.edu 37 11 9077350 9077350 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:9077350G>A uc001mhi.2 - 9 1272 c.1197C>T c.(1195-1197)acC>acT p.T399T SCUBE2_uc001mhj.2_Silent_p.T399T NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA. 399 EGF-like 8; calcium-binding (Potential). extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) CTCCACAGTGGGTGAAGCCAT 0.572000 91 13 0 0 1 0 0 PRAMEF18 391003 broad.mit.edu 37 1 13695845 13695845 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:13695845T>G uc009vny.1 - 2 1167 c.1120A>C c.(1120-1122)Agc>Cgc p.S374R NM_001099850 NP_001093260 Q5VWM3 PRA18_HUMAN Homo sapiens PRAME family member 18 (PRAMEF18), mRNA. 374 lung(2)|ovary(1) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAGCAGCGGCTCAGGGCAGGC 0.557000 199 55 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61765757 61765757 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:61765757C>T uc003xue.3 + 30 6965 c.6473C>T c.(6472-6474)tCa>tTa p.S2158L CHD7_uc022aux.1_Intron NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA. 2158 T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent nucleus ATP binding|DNA binding|chromatin binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CCAGTCATCTCATCTGCTCAT 0.473000 20 4 0 0 1 0 0 STARD7 56910 broad.mit.edu 37 2 96859049 96859049 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:96859049G>A uc002svm.4 - 3 992 c.591C>T c.(589-591)atC>atT p.I197I STARD7_uc002svl.3_5'UTR NM_020151 NP_064536 Q9NQZ5 STAR7_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 7 (STARD7), mRNA. 197 START. mitochondrion endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2) 14 CCTCCAGCTTGATTACCAGGG 0.413000 57 7 0 0 1 0 0 GBP1 2633 broad.mit.edu 37 1 89523814 89523814 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:89523814C>T uc001dmx.2 - 5 955 c.735G>A c.(733-735)agG>agA p.R245R NM_002053 NP_002044 P32455 GBP1_HUMAN Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA. 245 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) GGGCAAGCTTCCTGCGGTGAA 0.438000 110 7 0 0 1 0 0 ZNF527 84503 broad.mit.edu 37 19 37879562 37879562 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:37879562C>T uc010efk.1 + 4 722 c.611C>T c.(610-612)tCa>tTa p.S204L ZNF527_uc002ogf.3_Missense_Mutation_p.S172L|ZNF527_uc010xtq.1_Non-coding_Transcript NM_032453 NP_115829 Q8NB42 ZN527_HUMAN Homo sapiens zinc finger protein 527 (ZNF527), mRNA. 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCCCAAAATTCAGTCATAATT 0.323000 35 9 0 0 1 0 0 IPO5 3843 broad.mit.edu 37 13 98645422 98645422 + Missense_Mutation SNP C T T rs1053814 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:98645422C>T uc001vne.3 + 10 1090 c.910C>T c.(910-912)Ctc>Ttc p.L304F IPO5_uc001vnf.1_Missense_Mutation_p.L286F|IPO5_uc010tik.1_Missense_Mutation_p.L161F|IPO5_uc010til.1_Missense_Mutation_p.L226F NM_002271 NP_002262 O00410 IPO5_HUMAN Homo sapiens importin 5 (IPO5), mRNA. 286 NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|Ran GTPase binding|protein transporter activity breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 GATCGTCACCCTCTCTGAGAC 0.388000 15 8 0 0 1 0 0 LPIN1 23175 broad.mit.edu 37 2 11924018 11924018 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:11924018C>T uc010yjm.2 + 9 1528 c.1475C>T c.(1474-1476)cCt>cTt p.P492L LPIN1_uc010yjn.2_Missense_Mutation_p.P407L|LPIN1_uc002rbt.3_Missense_Mutation_p.P407L|LPIN1_uc002rbs.3_Missense_Mutation_p.P443L NM_145693 NP_663731 Q14693 LPIN1_HUMAN Homo sapiens lipin 1 (LPIN1), mRNA. 407 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) GACATGGATCCTGAAGTGGCG 0.433000 169 11 0 0 1 0 0 SLC25A45 283130 broad.mit.edu 37 11 65144347 65144347 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:65144347G>A uc001odr.1 - 5 744 c.540C>T c.(538-540)atC>atT p.I180I SLC25A45_uc009yqi.1_Silent_p.I118I|SLC25A45_uc001odq.1_Silent_p.I156I|SLC25A45_uc001ods.1_Silent_p.I138I|SLC25A45_uc001odt.1_Silent_p.I138I NM_182556 NP_001070709 Q8N413 S2545_HUMAN Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA. 180 transmembrane transport integral to membrane|mitochondrial inner membrane binding p.G179W(1) endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 TGATGAAGTAGATCCCCACCG 0.632000 141 14 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6982579 6982579 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:6982579G>A uc002knm.3 - 40 5901 c.5807C>T c.(5806-5808)tCc>tTc p.S1936F LAMA1_uc010wzj.2_Missense_Mutation_p.S1412F NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 1936 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding p.E1935*(1) NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGAAACAAGGGATTCTGAGAG 0.552000 104 10 0 0 1 0 0 PLEKHM2 23207 broad.mit.edu 37 1 16056306 16056306 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:16056306C>T uc010obo.2 + 13 2317 c.2090C>T c.(2089-2091)tCt>tTt p.S697F NM_015164 NP_055979 Q8IWE5 PKHM2_HUMAN Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA. 697 Golgi organization cytoplasm kinesin binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) TTTTTGGCTTCTTTGAAGTCA 0.557000 43 12 0 0 1 0 0 BAI2 576 broad.mit.edu 37 1 32221723 32221723 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:32221723G>A uc001btn.3 - 3 1069 c.715C>T c.(715-717)Cca>Tca p.P239S BAI2_uc010ogp.2_Missense_Mutation_p.P227S|BAI2_uc010ogq.2_Missense_Mutation_p.P239S|BAI2_uc001bto.3_Missense_Mutation_p.P239S|BAI2_uc001btq.1_Missense_Mutation_p.P227S|BAI2_uc010ogr.1_Missense_Mutation_p.P227S NM_001703 NP_001694 O60241 BAI2_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA. 239 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) GGAGGGCCTGGAGATGTGGTG 0.701000 73 10 0 0 1 0 0 XPO6 23214 broad.mit.edu 37 16 28167666 28167666 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:28167666G>A uc002dpa.1 - 6 1327 c.826C>T c.(826-828)Cac>Tac p.H276Y XPO6_uc002dpb.1_Missense_Mutation_p.H262Y|XPO6_uc010vcp.1_Missense_Mutation_p.H276Y NM_015171 NP_055986 Q96QU8 XPO6_HUMAN Homo sapiens exportin 6 (XPO6), mRNA. 276 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 CGTGCAAAGTGGAAGATGGTG 0.572000 53 7 0 0 1 0 0 SLA 6503 broad.mit.edu 37 8 134063089 134063089 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:134063089G>A uc011ljd.2 - 1 331 c.253C>T c.(253-255)Cga>Tga p.R85* TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Nonsense_Mutation_p.R45*|SLA_uc011lje.2_Nonsense_Mutation_p.R62*|SLA_uc011ljf.2_5'UTR|SLA_uc011ljg.2_Nonsense_Mutation_p.R62*|SLA_uc010mdy.1_Nonsense_Mutation_p.R45*|SLA_uc010mdz.1_Nonsense_Mutation_p.R45*|SLA_uc010mea.2_Non-coding_Transcript NM_006748 NP_006739 Q13239 SLAP1_HUMAN Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA. 45 SH2. endosome SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) TTCTCCCCTCGGCGGAATATC 0.507000 52 10 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39448701 39448701 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:39448701C>T uc001uwv.3 + 17 8568 c.8259C>T c.(8257-8259)ggC>ggT p.G2753G NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 2753 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AGTTCCATGGCTTATTTGTGC 0.493000 76 5 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58565236 58565236 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:58565236G>A uc002qrc.1 + 5 1291 c.1044G>A c.(1042-1044)agG>agA p.R348R NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA. 348 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AGCCACCGAGGAAGAAAGCCC 0.667000 30 4 0 0 1 0 0 DLL4 54567 broad.mit.edu 37 15 41223735 41223735 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:41223735C>T uc001zng.2 + 3 765 c.429C>T c.(427-429)atC>atT p.I143I NM_019074 NP_061947 Q9NR61 DLL4_HUMAN Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA. 143 Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation integral to membrane|plasma membrane Notch binding|calcium ion binding breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) TCAGCAAGATCGCCATCCAGG 0.612000 11 4 0 0 1 0 0 ITCH 83737 broad.mit.edu 37 20 33026293 33026293 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:33026293G>A uc010geu.1 + 8 851 c.659G>A c.(658-660)gGa>gAa p.G220E ITCH_uc002xak.2_Missense_Mutation_p.G179E|ITCH_uc010zuj.1_Missense_Mutation_p.G69E NM_031483 NP_113671 Q96J02 ITCH_HUMAN Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA. 220 apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 AGCACAAATGGATCAGATGAC 0.423000 48 6 0 0 1 0 0 LINGO4 339398 broad.mit.edu 37 1 151773448 151773448 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:151773448G>A uc001ezf.1 - 1 1923 c.1733C>T c.(1732-1734)tCt>tTt p.S578F LINGO4_uc021oyu.1_Missense_Mutation_p.S578F NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA. 578 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TTTATCCCCAGAGGGCCGAGG 0.552000 79 7 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3318767 3318767 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:3318767C>T uc003ggw.3 + 1 1774 c.870C>T c.(868-870)gtC>gtT p.V290V RGS12_uc003ggu.2_Silent_p.V290V|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Silent_p.V290V|RGS12_uc003ggx.1_Silent_p.V290V NM_198229 NP_937872 O14924 RGS12_HUMAN Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA. 290 PID. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AGGCTGGAGTCGTGGCCGAGT 0.617000 45 9 0 0 1 0 0 X06774 0 broad.mit.edu 37 7 38370126 38370126 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:38370126C>T uc010kxj.1 - 1 308 c.172G>A c.(172-174)Gag>Aag p.E58K X06774_uc010kxk.1_Non-coding_Transcript Homo sapiens cDNA FLJ77147 complete cds, highly similar to Homo sapiens T cell receptor gamma variable 7, mRNA. GCCTTCCCCTCCTGGTGTAGG 0.483000 41 5 0 0 1 0 0 METAP1D 254042 broad.mit.edu 37 2 172926305 172926305 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:172926305C>T uc002uhk.3 + 1 193 c.120C>T c.(118-120)ttC>ttT p.F40F METAP1D_uc010zdw.2_5'UTR NM_199227 NP_954697 Q6UB28 AMP1D_HUMAN Homo sapiens methionyl aminopeptidase type 1D (mitochondrial) (METAP1D), nuclear gene encoding mitochondrial protein, mRNA. 40 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 8 GAAGAAATTTCTTTTTTCGGA 0.388000 183 19 0 0 1 0 0 KRT15 3866 broad.mit.edu 37 17 39674981 39674981 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:39674981C>T uc002hwy.3 - 0 290 c.99G>A c.(97-99)ggG>ggA p.G33G KRT15_uc002hwz.3_5'UTR|KRT15_uc002hxa.3_5'UTR|KRT15_uc002hxb.1_Intron NM_002275 NP_002266 P19012 K1C15_HUMAN Homo sapiens keratin 15 (KRT15), mRNA. 33 Gly-rich.|Head. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) CAGAGAGACTCCCCCCACCAA 0.587000 63 7 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140719964 140719964 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140719964G>A uc003ljk.2 + 0 1611 c.1426G>A c.(1426-1428)Gcc>Acc p.A476T PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.A476T NM_018915 NP_061738 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA. 478 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCAGTGACGGCCCATGACCC 0.542000 66 7 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48349601 48349601 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:48349601C>T uc003toq.2 + 23 9403 c.9379C>T c.(9379-9381)Cat>Tat p.H3127Y ABCA13_uc010kys.1_Missense_Mutation_p.H201Y NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 3127 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GGAAATCCTTCATCTCCTGCT 0.473000 92 10 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116730317 116730317 + Missense_Mutation SNP G A A rs36096777 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:116730317G>A uc001ppy.3 - 18 2147 c.2111C>T c.(2110-2112)gCt>gTt p.A704V SIK3_uc001ppz.3_Missense_Mutation_p.A603V|SIK3_uc001pqa.3_Missense_Mutation_p.A704V|SIK3_uc001ppw.3_Missense_Mutation_p.A121V|SIK3_uc001ppx.3_Missense_Mutation_p.A142V|SIK3_uc001pqb.3_Missense_Mutation_p.A7V NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN Homo sapiens SIK family kinase 3 (SIK3), mRNA. 704 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 AGAAGATGCAGCCCCTGGAGA 0.527000 OREG0003491 type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 113 12 0 0 1 0 0 VARS2 57176 broad.mit.edu 37 6 30886664 30886664 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:30886664C>T uc011dmz.2 + 10 1217 c.1136C>T c.(1135-1137)gCc>gTc p.A379V VARS2_uc003nsc.2_Missense_Mutation_p.A349V|VARS2_uc011dmx.2_Missense_Mutation_p.A349V|VARS2_uc011dmy.2_Missense_Mutation_p.A209V|VARS2_uc011dna.2_Missense_Mutation_p.A349V|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_5'UTR|VARS2_uc010jsg.2_5'Flank NM_001167734 NP_001161205 Q5ST30 SYVM_HUMAN Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA. 349 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 GTGGCTGTGGCCGTTCATCCA 0.527000 48 6 0 0 1 0 0 SDF4 51150 broad.mit.edu 37 1 1163951 1163951 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:1163951G>A uc001adh.4 - 1 552 c.223C>T c.(223-225)Cgc>Tgc p.R75C SDF4_uc001adi.4_Missense_Mutation_p.R75C|SDF4_uc009vjw.3_Non-coding_Transcript NM_016176 NP_057260 Q9BRK5 CAB45_HUMAN Homo sapiens stromal cell derived factor 4 (SDF4), transcript variant 2, mRNA. 75 UV protection|cerebellum development|fat cell differentiation|response to ethanol|zymogen granule exocytosis Golgi lumen|bleb|late endosome|soluble fraction calcium ion binding|identical protein binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) TGGAAGCCGCGATTGAGGTGC 0.612000 58 4 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771812 143771812 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:143771812T>C uc011ktx.2 + 0 500 c.500T>C c.(499-501)tTc>tCc p.F167S NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) CCACTGTCCTTCTGTGGACCC 0.433000 116 9 0 0 1 0 0 DCAF11 80344 broad.mit.edu 37 14 24590593 24590593 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:24590593C>T uc001wlv.3 + 12 1546 c.1266C>T c.(1264-1266)ctC>ctT p.L422L DCAF11_uc001wlw.3_Silent_p.L422L|DCAF11_uc001wlz.3_Silent_p.L322L|DCAF11_uc001wly.3_Silent_p.L378L|DCAF11_uc010tny.2_Silent_p.L289L|DCAF11_uc001wmc.3_Silent_p.L322L|DCAF11_uc001wmb.4_Silent_p.L396L|DCAF11_uc001wma.4_Silent_p.L422L NM_001163484 NP_079506 Q8TEB1 DCA11_HUMAN Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA. 422 CUL4 RING ubiquitin ligase complex protein binding AGCTGAAGCTCCCAGGGGACA 0.577000 90 5 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160074104 160074104 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:160074104C>T uc002uag.3 + 19 3615 c.3341C>T c.(3340-3342)cCa>cTa p.P1114L TANC1_uc010zcm.2_Missense_Mutation_p.P1106L|TANC1_uc010fom.1_Missense_Mutation_p.P920L|TANC1_uc010fon.3_5'UTR NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA. 1114 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 AGAGGGGTTCCACCTTTGTTT 0.597000 88 13 0 0 1 0 0 CRMP1 1400 broad.mit.edu 37 4 5837732 5837732 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:5837732C>T uc003gis.3 - 10 1622 c.1533G>A c.(1531-1533)agG>agA p.R511R CRMP1_uc003giq.3_Silent_p.R397R|CRMP1_uc003gir.3_Silent_p.R392R NM_001014809 NP_001014809 Q14194 DPYL1_HUMAN Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA. 397 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding p.R511R(2) NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) TCCGCCCTTTCCTTGGGTACA 0.532000 100 14 0 0 1 0 0 IDO1 3620 broad.mit.edu 37 8 39776394 39776394 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:39776394C>T uc003xnm.3 + 3 478 c.364C>T c.(364-366)Cct>Tct p.P122S NM_002164 NP_002155 P14902 I23O1_HUMAN Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA. 122 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) GGAACTGCCTCCTATTTTGGT 0.373000 68 4 0 0 1 0 0 SSBP3 23648 broad.mit.edu 37 1 54707859 54707859 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:54707859G>A uc001cxe.3 - 10 1154 c.743C>T c.(742-744)cCc>cTc p.P248L SSBP3_uc001cxf.3_Missense_Mutation_p.P228L|SSBP3_uc001cxg.3_Missense_Mutation_p.P221L NM_145716 NP_663768 Q9BWW4 SSBP3_HUMAN Homo sapiens single stranded DNA binding protein 3 (SSBP3), transcript variant 1, mRNA. 248 Gly-rich.|Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus single-stranded DNA binding central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 11 GTTAGGATTGGGCCAGGGTCT 0.602000 198 9 0 0 1 0 0 SYBU 55638 broad.mit.edu 37 8 110655122 110655122 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:110655122G>A uc010mcp.3 - 2 426 c.64C>T c.(64-66)Cga>Tga p.R22* SYBU_uc003yni.4_Nonsense_Mutation_p.R19*|SYBU_uc003ynk.4_Intron|SYBU_uc003ynj.4_Nonsense_Mutation_p.R22*|SYBU_uc010mco.3_Nonsense_Mutation_p.R21*|SYBU_uc003ynl.4_Nonsense_Mutation_p.R21*|SYBU_uc010mcq.3_Nonsense_Mutation_p.R22*|SYBU_uc003yno.4_Intron|SYBU_uc010mcr.3_Nonsense_Mutation_p.R22*|SYBU_uc003ynm.4_Nonsense_Mutation_p.R21*|SYBU_uc003ynn.4_Nonsense_Mutation_p.R21*|SYBU_uc010mcs.3_Intron|SYBU_uc010mct.3_Nonsense_Mutation_p.R22*|SYBU_uc010mcu.3_Nonsense_Mutation_p.R21*|SYBU_uc003ynp.4_Intron|SYBU_uc010mcv.3_Nonsense_Mutation_p.R22*|AX748380_uc003ynq.1_5'Flank NM_001099752 NP_001093225 Q9NX95 SYBU_HUMAN Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA. 22 Sufficient for interaction with KIF5B. Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 ATTCGGCTTCGAGAAATCTCC 0.483000 82 7 0 0 1 0 0 KAZN 23254 broad.mit.edu 37 1 15392178 15392178 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:15392178G>A uc001avm.4 + 7 1432 c.1151G>A c.(1150-1152)gGa>gAa p.G384E KAZN_uc009vog.1_Missense_Mutation_p.G384E|KAZN_uc001avo.2_Missense_Mutation_p.G378E|KAZN_uc001avp.2_Missense_Mutation_p.G290E|KAZN_uc001avq.2_Missense_Mutation_p.G290E|KAZN_uc001avr.2_3'UTR NM_201628 NP_963922 Q674X7 KAZRN_HUMAN Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA. 384 keratinization cornified envelope|cytoplasm|desmosome|nucleus central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 GAGAAGATGGGATTCGGCTCC 0.537000 78 7 0 0 1 0 0 PIEZO2 63895 broad.mit.edu 37 18 10696236 10696236 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:10696236G>A uc002kos.2 - 42 6861 c.6687C>T c.(6685-6687)gtC>gtT p.V2229V PIEZO2_uc002koq.3_Silent_p.V84V NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA. 2229 integral to membrane ion channel activity ACGGCCCCGGGACCTGGTCCT 0.532000 32 8 0 0 1 0 0 RASGRP1 10125 broad.mit.edu 37 15 38803816 38803816 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:38803816C>T uc001zke.4 - 7 1133 c.955G>A c.(955-957)Gaa>Aaa p.E319K RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Missense_Mutation_p.E181K|RASGRP1_uc010bbg.3_Missense_Mutation_p.E181K|RASGRP1_uc001zkd.4_Missense_Mutation_p.E319K NM_005739 NP_005730 O95267 GRP1_HUMAN Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA. 319 Ras-GEF. Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) TTATTGATTTCATGTGGGACA 0.498000 11 3 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74004845 74004845 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:74004845G>A uc010wss.1 - 21 4735 c.4507C>T c.(4507-4509)Ctg>Ttg p.L1503L EVPL_uc002jqi.2_Silent_p.L1481L|EVPL_uc010wst.1_Silent_p.L951L NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1481 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TCCCACCGCAGGGCTTCCGTG 0.592000 124 18 0 0 1 0 0 IL36A 27179 broad.mit.edu 37 2 113765450 113765450 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:113765450G>A uc010yxr.2 + 3 306 c.306G>A c.(304-306)gtG>gtA p.V102V NM_014440 NP_055255 Q9UHA7 IL36A_HUMAN Homo sapiens interleukin 36, alpha (IL36A), mRNA. 102 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding p.P101L(1) large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2) 9 CCGAGCCTGTGAAGTCCTTTC 0.488000 89 7 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10470177 10470177 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:10470177C>T uc003wtc.3 - 3 1660 c.1431G>A c.(1429-1431)gaG>gaA p.E477E NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 477 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CCACCCCGTCCTCCGGGGTCC 0.692000 75 8 0 0 1 0 0 WBP2 23558 broad.mit.edu 37 17 73843626 73843626 + Silent SNP G A A rs149635149 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:73843626G>A uc002jps.3 - 5 720 c.597C>T c.(595-597)ccC>ccT p.P199P UNC13D_uc002jpp.3_5'Flank|UNC13D_uc010wsk.1_5'Flank|UNC13D_uc002jpq.1_5'Flank|WBP2_uc010wsl.2_Silent_p.P165P|WBP2_uc010wsm.2_Silent_p.P154P|WBP2_uc010wsn.1_Silent_p.P168P NM_012478 NP_036610 Q969T9 WBP2_HUMAN Homo sapiens WW domain binding protein 2 (WBP2), mRNA. 199 Pro-rich. protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 7 all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCCAGGGTAGGGCGGTGGTG 0.657000 42 4 0 0 1 0 0 REP15 387849 broad.mit.edu 37 12 27850085 27850085 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:27850085C>T uc001rig.1 + 0 658 c.590C>T c.(589-591)gCt>gTt p.A197V NM_001029874 NP_001025045 Q6BDI9 REP15_HUMAN Homo sapiens RAB15 effector protein (REP15), mRNA. 197 early endosome membrane breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1) 9 Lung SC(9;0.0873) GGAGGGAAGGCTGTGGCTCAG 0.493000 50 6 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20998678 20998678 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:20998678G>A uc010vbe.2 - 46 6975 c.6975C>T c.(6973-6975)ttC>ttT p.F2325F DNAH3_uc010vbd.2_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2325 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCACCATGTTGAAAAAGACCT 0.413000 71 12 0 0 1 0 0 REC8 9985 broad.mit.edu 37 14 24642195 24642195 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:24642195C>T uc001wmr.3 + 3 640 c.213C>T c.(211-213)gcC>gcT p.A71A REC8_uc001wms.3_Silent_p.A71A NM_005132 NP_005123 O95072 REC8_HUMAN Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA. 71 mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(265;0.00839) ATCTCTCAGCCCAACTTCAGA 0.602000 109 7 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39761753 39761753 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:39761753G>A uc001rly.3 - 3 952 c.532C>T c.(532-534)Cat>Tat p.H178Y KIF21A_uc001rlx.3_Missense_Mutation_p.H178Y|KIF21A_uc001rlz.3_Missense_Mutation_p.H178Y|KIF21A_uc010skl.2_Missense_Mutation_p.H178Y NM_001173464 NP_001166935 Q7Z4S6 KI21A_HUMAN Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA. 178 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.H178N(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) GAATCTTCATGAATTCTTATA 0.299000 51 4 0 0 1 0 0 FPR2 2358 broad.mit.edu 37 19 52272748 52272748 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:52272748C>T uc002pxr.3 + 1 882 c.837C>T c.(835-837)atC>atT p.I279I FPR2_uc002pxs.4_Silent_p.I279I|FPR2_uc010epf.3_Silent_p.I279I|FPR2_uc021uyp.1_Silent_p.I279I NM_001005738 NP_001453 P25090 FPR2_HUMAN Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA. 279 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 AGTACAAAATCATTGACATCC 0.498000 52 10 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9070567 9070567 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9070567C>T uc002mkp.3 - 2 17083 c.16879G>A c.(16879-16881)Gaa>Aaa p.E5627K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5629 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGCTGGTTTCTTCCACAGGG 0.532000 13 3 0 0 1 0 0 RABGGTA 5875 broad.mit.edu 37 14 24738718 24738718 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:24738718G>A uc001wof.3 - 4 1032 c.610C>T c.(610-612)Cct>Tct p.P204S RABGGTA_uc001wog.3_Missense_Mutation_p.P204S|HP08474_uc021rro.1_5'Flank NM_004581 NP_878256 Q92696 PGTA_HUMAN Homo sapiens Rab geranylgeranyltransferase, alpha subunit (RABGGTA), transcript variant 2, mRNA. 204 visual perception Rab geranylgeranyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 12 GBM - Glioblastoma multiforme(265;0.0184) ACATCCTCAGGGAGGCGCCCC 0.607000 130 8 0 0 1 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135762906 135762906 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:135762906G>A uc004fab.3 - 14 2150 c.1688C>T c.(1687-1689)tCa>tTa p.S563L ARHGEF6_uc011mwd.2_Missense_Mutation_p.S436L|ARHGEF6_uc011mwe.2_Missense_Mutation_p.S409L NM_004840 NP_004831 Q15052 ARHG6_HUMAN Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA. 563 JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) AGCACTACATGATGACGATGA 0.468000 20 9 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48390628 48390628 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:48390628C>T uc001jez.3 - 0 364 c.250G>A c.(250-252)Gat>Aat p.D84N NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 84 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity p.D84N(4) central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) AGGCGAGGATCGTTCAGGGAG 0.617000 98 7 0 0 1 0 0 EFEMP2 30008 broad.mit.edu 37 11 65638023 65638023 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:65638023G>A uc001ofy.4 - 4 733 c.474C>T c.(472-474)atC>atT p.I158I EFEMP2_uc001ofz.3_Non-coding_Transcript NM_016938 NP_058634 O95967 FBLN4_HUMAN Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA. 158 EGF-like 2; calcium-binding (Potential). blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 READ - Rectum adenocarcinoma(159;0.169) ACTCGGGCCCGATCTTGCGGT 0.622000 15 3 0 0 1 0 0 SLC29A1 2030 broad.mit.edu 37 6 44199764 44199764 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:44199764C>T uc003oww.1 + 10 1323 c.1131C>T c.(1129-1131)ttC>ttT p.F377F SLC29A1_uc003owu.1_Silent_p.F298F|SLC29A1_uc003owv.1_Silent_p.F298F|SLC29A1_uc003owx.1_Silent_p.F298F|SLC29A1_uc003owy.1_Silent_p.F298F|SLC29A1_uc003owz.1_Silent_p.F298F NM_004955 NP_004946 Q99808 S29A1_HUMAN Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA. 298 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) CTGTCTGCTTCATCTTCACTA 0.512000 51 7 0 0 1 0 0 ARMCX2 9823 broad.mit.edu 37 X 100911708 100911708 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:100911708G>A uc010nnt.2 - 4 1676 c.867C>T c.(865-867)tcC>tcT p.S289S ARMCX2_uc004eid.2_Silent_p.S289S|ARMCX2_uc004eie.3_Silent_p.S289S|ARMCX2_uc004eif.3_Silent_p.S289S|ARMCX2_uc004eig.3_Silent_p.S289S|ARMCX2_uc022caq.1_Silent_p.S289S NM_177949 NP_808818 Q7L311 ARMX2_HUMAN Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA. 289 integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 CCCCATTCCGGGACCTGGTTA 0.592000 70 14 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43601981 43601981 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:43601981C>T uc001jal.3 + 4 1215 c.1025C>T c.(1024-1026)gCc>gTc p.A342V RET_uc001jak.1_Missense_Mutation_p.A342V|RET_uc010qez.1_Missense_Mutation_p.A88V NM_020975 NP_066124 P07949 RET_HUMAN Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA. 342 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) TCGGTCCAGGCCAACGGCAGC 0.647000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 27 6 0 0 1 0 0 LPCAT4 254531 broad.mit.edu 37 15 34656262 34656262 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:34656262G>A uc001zig.3 - 4 698 c.604C>T c.(604-606)Cct>Tct p.P202S LPCAT4_uc010bav.1_3'UTR NM_153613 NP_705841 Q643R3 LPCT4_HUMAN Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA. 202 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1) 10 GTGCCCTCAGGAAAGAATAGC 0.458000 124 9 0 0 1 0 0 FUBP3 8939 broad.mit.edu 37 9 133499042 133499043 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:133499042_133499043CC>TT uc004bzr.1 + 10 1027_1028 c.919_920CC>TT c.(919-921)ccg>TTg p.P307L FUBP3_uc010mzd.1_Missense_Mutation_p.P247L NM_003934 NP_003925 Q96I24 FUBP3_HUMAN Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA. 307 KH 3. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2) 21 OV - Ovarian serous cystadenocarcinoma(145;0.000279) CATGGGCCCTCCGGATCGGTGT 0.535000 68 8 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133790988 133790988 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:133790988G>A uc001qgx.4 - 17 2863 c.2632C>T c.(2632-2634)Ccc>Tcc p.P878S NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA. 878 integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) TCGGCGAAGGGGAAGCCCTCG 0.657000 59 5 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7288023 7288023 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:7288023C>T uc001qss.3 + 2 1058 c.520C>T c.(520-522)Cgc>Tgc p.R174C CLSTN3_uc001qsr.3_Missense_Mutation_p.R162C NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN Homo sapiens calsyntenin 3 (CLSTN3), mRNA. 162 Cadherin 2. homophilic cell adhesion Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 GCTGTACGATCGCATCCTGCG 0.562000 64 6 0 0 1 0 0 OR4N3P 390539 broad.mit.edu 37 15 22413716 22413716 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:22413716C>T uc001yuf.3 + 0 255 c.15C>T c.(13-15)ttC>ttT p.F5F abParts_uc001yuj.2_Intron Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA. TGGTGGACTTCCTCTCTGAGA 0.512000 66 16 0 0 1 0 0 SLC2A5 6518 broad.mit.edu 37 1 9101860 9101860 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:9101860G>A uc001apo.3 - 4 847 c.555C>T c.(553-555)ctC>ctT p.L185L SLC2A5_uc010nzy.2_Silent_p.L126L|SLC2A5_uc010nzz.2_Silent_p.L70L|SLC2A5_uc010oaa.2_Silent_p.L141L|SLC2A5_uc010oac.2_3'UTR|SLC2A5_uc001app.4_Silent_p.L185L NM_003039 NP_003030 P22732 GTR5_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA. 185 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CGTTTGCAAGGAGATTCCGAA 0.587000 76 6 0 0 1 0 0 CHODL 140578 broad.mit.edu 37 21 19629116 19629116 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:19629116G>A uc002ykv.3 + 1 761 c.370G>A c.(370-372)Gga>Aga p.G124R CHODL_uc002ykr.3_Missense_Mutation_p.G83R|CHODL_uc002yks.3_Missense_Mutation_p.G83R|CHODL_uc021whr.1_Missense_Mutation_p.G83R|CHODL_uc002ykt.3_Missense_Mutation_p.G83R|CHODL_uc002yku.3_Missense_Mutation_p.G83R|CHODL_uc021whs.1_Missense_Mutation_p.G105R NM_024944 NP_001191105 Q9H9P2 CHODL_HUMAN Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA. 124 C-type lectin. muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) GTGGTCTGATGGAAGCAATTC 0.517000 26 5 0 0 1 0 0 BTBD7 55727 broad.mit.edu 37 14 93709396 93709396 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:93709396G>A uc001ybo.3 - 10 2948 c.2622C>T c.(2620-2622)atC>atT p.I874I BTBD7_uc010aur.3_Silent_p.I399I|BTBD7_uc010two.2_Silent_p.I694I|BTBD7_uc001ybp.3_Silent_p.I523I NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA. 874 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) CACCCACCGCGATGTCTGGCA 0.502000 87 9 0 0 1 0 0 ETV1 2115 broad.mit.edu 37 7 13975401 13975401 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:13975401G>A uc021zzz.1 - 5 573 c.486C>T c.(484-486)gaC>gaT p.D162D ETV1_uc021zzt.1_Silent_p.D122D|ETV1_uc021zzu.1_Intron|ETV1_uc021zzv.1_Silent_p.D104D|ETV1_uc021zzw.1_Silent_p.D122D|ETV1_uc021zzx.1_Intron|ETV1_uc021zzy.1_Silent_p.D104D|ETV1_uc022aaa.1_Silent_p.D144D|ETV1_uc022aab.1_Silent_p.D162D|ETV1_uc003ssw.4_Silent_p.D162D|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Silent_p.D144D|ETV1_uc022aad.1_Silent_p.D144D|ETV1_uc010ktv.3_Silent_p.D31D NM_004956 NP_004947 P50549 ETV1_HUMAN Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA. 162 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 GGAAGGCCCGGTCAGGTTTCG 0.557000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 188 14 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48697457 48697457 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:48697457G>A uc003cuf.1 - 2 2821 c.2821C>T c.(2821-2823)Cgg>Tgg p.R941W CELSR3_uc003cul.3_Missense_Mutation_p.R871W NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 871 Cadherin 6. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) cccattggccgatcttcattc 0.507000 66 6 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32262225 32262225 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:32262225T>A uc001bts.1 - 9 2295 c.2237A>T c.(2236-2238)gAc>gTc p.D746V SPOCD1_uc001btu.3_Missense_Mutation_p.D746V|SPOCD1_uc001btv.3_Missense_Mutation_p.D239V|SPOCD1_uc021oks.1_Missense_Mutation_p.D52V|SPOCD1_uc001btw.1_Missense_Mutation_p.D90V NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA. 746 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CTGGTCCATGTCCCGCTGAAT 0.592000 145 19 0 0 1 0 0 OR10G2 26534 broad.mit.edu 37 14 22102213 22102213 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:22102213G>A uc010tmc.2 - 0 786 c.786C>T c.(784-786)ttC>ttT p.F262F NM_001005466 NP_001005466 Q8NGC3 O10G2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA. 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TAAGGTAGATGAAAATACAGG 0.547000 40 4 0 0 1 0 0 RSPH9 221421 broad.mit.edu 37 6 43624454 43624454 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:43624454C>T uc003ovx.2 + 3 688 c.619C>T c.(619-621)Ccc>Tcc p.P207S RSPH9_uc003ovw.2_Missense_Mutation_p.P222S NM_001193341 NP_001180270 Q9H1X1 RSPH9_HUMAN Homo sapiens radial spoke head 9 homolog (Chlamydomonas) (RSPH9), transcript variant 2, mRNA. 222 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GCATGACATTCCCAAAGGTAA 0.522000 Kartagener syndrome 124 10 0 0 1 0 0 FETUB 26998 broad.mit.edu 37 3 186362666 186362666 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:186362666C>T uc010hyq.3 + 4 812 c.551C>T c.(550-552)tCc>tTc p.S184F FETUB_uc011brz.2_Missense_Mutation_p.S36F|FETUB_uc003fqn.3_Missense_Mutation_p.S184F|FETUB_uc010hyr.3_Missense_Mutation_p.S147F|FETUB_uc010hys.3_Missense_Mutation_p.S36F|FETUB_uc003fqp.4_Missense_Mutation_p.S119F NM_014375 NP_055190 Q9UGM5 FETUB_HUMAN Homo sapiens fetuin B (FETUB), mRNA. 184 Cystatin fetuin-B-type 2. extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) GAGAACACATCCAAGCAGTAT 0.498000 23 4 0 0 1 0 0 BTG3 10950 broad.mit.edu 37 21 18977308 18977308 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:18977308G>A uc002ykl.3 - 2 441 c.181C>T c.(181-183)Cgt>Tgt p.R61C BTG3_uc002ykk.3_Missense_Mutation_p.R61C NM_001130914 NP_001124386 Q14201 BTG3_HUMAN Homo sapiens BTG family, member 3 (BTG3), transcript variant 1, mRNA. 61 negative regulation of cell proliferation|negative regulation of mitotic cell cycle cytoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 8 Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971) TTATTGACACGAATACATCTA 0.373000 13 7 0 0 1 0 0 ANKRD24 170961 broad.mit.edu 37 19 4216889 4216889 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:4216889G>A uc010dtt.1 + 17 2008 c.1732G>A c.(1732-1734)Gaa>Aaa p.E578K ANKRD24_uc002lzs.2_Missense_Mutation_p.E549K|ANKRD24_uc002lzt.2_Missense_Mutation_p.E550K NM_133475 NP_597732 Q8TF21 ANR24_HUMAN Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA. 578 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) CAGGACTATGGAAGCTGAGGC 0.567000 12 5 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36973614 36973614 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:36973614G>A uc010jwp.1 + 0 192 c.21G>A c.(19-21)gaG>gaA p.E7E FGD2_uc003onf.3_Silent_p.E7E|FGD2_uc011dtu.1_Silent_p.E7E|FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_5'UTR NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA. 7 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 CAAGTGAGGAGAAGCTGGCAT 0.617000 42 4 0 0 1 0 0 OBSL1 23363 broad.mit.edu 37 2 220420865 220420865 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:220420865G>A uc010fwk.3 - 13 4800 c.4486C>T c.(4486-4488)Ctg>Ttg p.L1496L OBSL1_uc002vmh.1_Silent_p.L395L|OBSL1_uc010zli.1_Silent_p.L303L|OBSL1_uc010fwl.2_Silent_p.L1496L NM_015311 NP_056126 O75147 OBSL1_HUMAN Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA. 1496 Ig-like 12. cardiac myofibril assembly M band|Z disc|intercalated disc|perinuclear region of cytoplasm cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GCCATGGACAGGCGAGAGTCG 0.672000 30 12 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9085999 9085999 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9085999G>A uc002mkp.3 - 0 6020 c.5816C>T c.(5815-5817)tCa>tTa p.S1939L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1939 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGAATGGATGAAAAAGGCAA 0.488000 23 6 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21788275 21788275 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:21788275C>T uc001wag.3 + 10 1406 c.1406C>T c.(1405-1407)cCt>cTt p.P469L RPGRIP1_uc001wah.3_Missense_Mutation_p.P111L|RPGRIP1_uc001wai.3_Missense_Mutation_p.P111L|RPGRIP1_uc001waj.1_5'Flank|RPGRIP1_uc001wak.3_5'Flank|RPGRIP1_uc010aim.3_5'Flank|RPGRIP1_uc001wal.3_5'Flank NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA. 469 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) TCCCAACCTCCTGACAGGCAA 0.468000 23 4 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138545943 138545943 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:138545943C>T uc011kql.2 - 15 5238 c.5189G>A c.(5188-5190)cGa>cAa p.R1730Q KIAA1549_uc011kqi.2_Missense_Mutation_p.R514Q|KIAA1549_uc011kqk.2_Missense_Mutation_p.R514Q|KIAA1549_uc011kqj.2_Missense_Mutation_p.R1730Q NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 1730 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CTGGGTGGCTCGCCTCTCTTC 0.637000 O BRAF pilocytic astrocytoma 78 8 0 0 1 0 0 RGS8 85397 broad.mit.edu 37 1 182615970 182615970 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:182615970C>T uc010pnw.1 - 6 701 c.443G>A c.(442-444)gGa>gAa p.G148E RGS8_uc001gpn.1_Missense_Mutation_p.G148E|RGS8_uc001gpm.1_Missense_Mutation_p.G166E NM_001102450 NP_001095920 P57771 RGS8_HUMAN Homo sapiens regulator of G-protein signaling 8 (RGS8), transcript variant 2, mRNA. 148 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 5 GTGTACTTTTCCTTGGGCTTG 0.498000 126 7 0 0 1 0 0 MFSD9 84804 broad.mit.edu 37 2 103343331 103343331 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:103343331G>A uc002tcb.2 - 3 468 c.400C>T c.(400-402)Ctg>Ttg p.L134L MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Silent_p.L73L NM_032718 NP_116107 Q8NBP5 MFSD9_HUMAN Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA. 134 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 AGGACAAACAGAAACACATTG 0.488000 45 6 0 0 1 0 0 KIF11 3832 broad.mit.edu 37 10 94410215 94410215 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:94410215G>A uc001kic.3 + 20 3288 c.2980G>A c.(2980-2982)Gag>Aag p.E994K NM_004523 NP_004514 P52732 KIF11_HUMAN Homo sapiens kinesin family member 11 (KIF11), mRNA. 994 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TCTAAGTCAAGAGCCATCTGT 0.438000 283 23 0 0 1 0 0 EMID1 129080 broad.mit.edu 37 22 29611517 29611517 + Splice_Site SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:29611517T>C uc003aem.3 + 3 291 c.216_splice c.e3-1 p.S72_splice EMID1_uc003aen.3_Splice_Site_p.S72_splice NM_133455 NP_597712 Q96A84 EMID1_HUMAN Homo sapiens EMI domain containing 1 (EMID1), mRNA. 72 EMI. collagen NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3) 12 CTCTTTCAGCTACAGAACTGT 0.587000 59 12 0 0 1 0 0 TIMP2 7077 broad.mit.edu 37 17 76851755 76851755 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:76851755G>A uc002jwf.3 - 4 959 c.657C>T c.(655-657)gaC>gaT p.D219D TIMP2_uc002jwe.3_Silent_p.D142D|TIMP2_uc010wty.2_Silent_p.D142D NM_003255 NP_003246 P16035 TIMP2_HUMAN Homo sapiens TIMP metallopeptidase inhibitor 2 (TIMP2), mRNA. 219 metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194) CTGCTTATGGGTCCTCGATGT 0.592000 42 4 0 0 1 0 0 MRPL43 84545 broad.mit.edu 37 10 102739120 102739120 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:102739120G>A uc010qpu.1 - 5 737 c.665C>T c.(664-666)cCc>cTc p.P222L SEMA4G_uc001krv.3_Intron|SEMA4G_uc010qpt.1_Intron|SEMA4G_uc001krx.3_Intron|SEMA4G_uc001krw.2_Intron|MRPL43_uc001kry.1_Missense_Mutation_p.P180S NM_032112 NP_115488 Q8N983 RM43_HUMAN Homo sapiens mitochondrial ribosomal protein L43 (MRPL43), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 0 translation mitochondrial ribosome protein binding|structural constituent of ribosome endometrium(1)|skin(2)|upper_aerodigestive_tract(1) 4 Colorectal(252;0.234) Epithelial(162;6.21e-09)|all cancers(201;3.14e-07) TCCACTGTGGGGAGGTCTGGC 0.527000 51 4 0 0 1 0 0 CRISPLD2 83716 broad.mit.edu 37 16 84911069 84911069 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:84911069C>T uc010voh.1 + 11 1409 c.1182C>T c.(1180-1182)acC>acT p.T394T CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fin.4_Silent_p.T394T NM_031476 NP_113664 Q9H0B8 CRLD2_HUMAN Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA. 394 LCCL 2. extracellular region|transport vesicle endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 GCTACACGACCGTTGCTCAGC 0.552000 54 13 0 0 1 0 0 TMEM177 80775 broad.mit.edu 37 2 120438787 120438787 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:120438787C>T uc021vnk.1 + 0 358 c.358C>T c.(358-360)Cat>Tat p.H120Y TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Missense_Mutation_p.H120Y|TMEM177_uc002tmc.1_Missense_Mutation_p.H120Y|TMEM177_uc002tmd.2_Missense_Mutation_p.H120Y|TMEM177_uc010flh.3_Intron NM_030577 NP_085054 Q53S58 TM177_HUMAN Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA. 120 integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(110;0.196) CAACACTAACCATCCCGTGGT 0.602000 247 37 0 0 1 0 0 UBE2O 63893 broad.mit.edu 37 17 74392458 74392458 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:74392458G>A uc002jrm.4 - 13 2625 c.2560C>T c.(2560-2562)Ctg>Ttg p.L854L UBE2O_uc002jrn.4_Silent_p.L854L|UBE2O_uc002jrl.4_Silent_p.L458L NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA. 854 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 ATGTCATCCAGAAACTTCTTC 0.552000 151 11 0 0 1 0 0 IL1R2 7850 broad.mit.edu 37 2 102644754 102644754 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:102644754G>A uc002tbm.3 + 8 1326 c.1097G>A c.(1096-1098)gGa>gAa p.G366E IL1R2_uc002tbn.3_Missense_Mutation_p.G366E NM_004633 NP_775465 P27930 IL1R2_HUMAN Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA. 366 immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) GTTTTGGGGGGAATATGGATG 0.512000 61 28 0 0 1 0 0 BTBD16 118663 broad.mit.edu 37 10 124045735 124045735 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:124045735C>T uc001lgc.1 + 4 608 c.357C>T c.(355-357)ccC>ccT p.P119P BTBD16_uc001lgd.1_Silent_p.P118P NM_144587 NP_653188 Q32M84 BTBDG_HUMAN Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA. 119 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) CCACACACCCCCTGAGGGAGC 0.617000 88 5 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66190250 66190250 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:66190250G>A uc001ohx.1 + 3 712 c.536G>A c.(535-537)gGa>gAa p.G179E NPAS4_uc010rpc.1_Missense_Mutation_p.E6K NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA. 179 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CACCCACCTGGAGCCTACTGG 0.637000 80 4 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30695435 30695435 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:30695435C>T uc003xil.3 - 2 7216 c.7216G>A c.(7216-7218)Gac>Aac p.D2406N NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 2406 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GCGCAAGTGTCTTTTGGGTTC 0.363000 73 9 0 0 1 0 0 LY75-CD302 100526664 broad.mit.edu 37 2 160673464 160673464 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:160673464T>A uc002ubb.4 - 29 4307 c.4233A>T c.(4231-4233)aaA>aaT p.K1411N LY75-CD302_uc010fos.3_Missense_Mutation_p.K1411N|LY75-CD302_uc002ubc.4_Missense_Mutation_p.K1411N NM_001198759 NP_001185688 O60449 LY75_HUMAN Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA. 1411 C-type lectin 9. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding ATGTTACCTTTTTTTGAATAA 0.353000 47 5 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119837 38119837 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:38119837G>A uc003atr.3 + 6 1545 c.1274G>A c.(1273-1275)cGa>cAa p.R425Q TRIOBP_uc003atu.3_Missense_Mutation_p.R253Q|TRIOBP_uc003atq.1_Missense_Mutation_p.R425Q|TRIOBP_uc003ats.1_Missense_Mutation_p.R253Q NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 425 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AGAGCCACACGAGACAACCCC 0.577000 62 10 0 0 1 0 0 KCNK17 89822 broad.mit.edu 37 6 39267342 39267342 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:39267342G>A uc003ooo.3 - 4 1001 c.860C>T c.(859-861)tCc>tTc p.S287F KCNK17_uc003oop.3_3'UTR NM_031460 NP_113648 Q96T54 KCNKH_HUMAN Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA. 287 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2) 14 CCAGCTTTGGGACTTGAAGTC 0.567000 48 7 0 0 1 0 0 SLC5A9 200010 broad.mit.edu 37 1 48688462 48688462 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:48688462G>A uc001crn.2 + 0 106 c.54G>A c.(52-54)agG>agA p.R18R SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Silent_p.R18R|SLC5A9_uc010omt.1_Silent_p.R11R|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR NM_001135181 NP_001128653 Q2M3M2 SC5A9_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA. 18 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 ACGGGGTCAGGACTGAGACAG 0.572000 36 9 0 0 1 0 0 MLH1 4292 broad.mit.edu 37 3 37053562 37053562 + Missense_Mutation SNP C T T rs4986984 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:37053562C>T uc003cgl.3 + 7 847 c.649C>T c.(649-651)Cgc>Tgc p.R217C MLH1_uc011aye.2_5'UTR|MLH1_uc011ayb.2_5'UTR|MLH1_uc010hge.3_Missense_Mutation_p.R217C|MLH1_uc011ayc.2_Missense_Mutation_p.R119C|MLH1_uc011ayd.2_5'UTR|MLH1_uc003cgo.3_5'UTR|MLH1_uc003cgn.4_5'UTR|MLH1_uc010hgg.1_5'UTR|MLH1_uc010hgh.1_5'UTR|MLH1_uc010hgi.1_5'UTR|MLH1_uc010hgj.1_5'UTR|MLH1_uc010hgk.3_5'UTR|MLH1_uc010hgl.1_5'Flank NM_000249 NP_001161091 P40692 MLH1_HUMAN Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA. 217 R -> C (in HNPCC2; could be a polymorphism; proficient in a mismatch repair assay; dbSNP:rs4986984).|R -> G. mismatch repair|somatic hypermutation of immunoglobulin genes MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex ATP binding|ATPase activity|protein binding p.R217C(2)|p.0?(1) NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 GGACAATATTCGCTCCATCTT 0.358000 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 47 5 0 0 1 0 0 CABP2 51475 broad.mit.edu 37 11 67287310 67287310 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:67287310G>A uc001ome.1 - 5 697 c.609C>T c.(607-609)atC>atT p.I203I CABP2_uc001omc.1_Silent_p.I197I Q9NPB3 CABP2_HUMAN Homo sapiens calcium binding protein 2 (CABP2), mRNA. 197 EF-hand 4. signal transduction Golgi apparatus|perinuclear region of cytoplasm|plasma membrane calcium ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 9 CGTCCTGGAGGATCTCGTCCA 0.662000 47 9 0 0 1 0 0 BLNK 29760 broad.mit.edu 37 10 97987229 97987229 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:97987229G>A uc001kls.4 - 4 476 c.298C>T c.(298-300)Cca>Tca p.P100S BLNK_uc001kme.4_Missense_Mutation_p.P18S|BLNK_uc001klt.4_Missense_Mutation_p.P18S|BLNK_uc009xvc.3_Intron|BLNK_uc001klu.4_Missense_Mutation_p.P18S|BLNK_uc001klv.4_Missense_Mutation_p.P100S|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Missense_Mutation_p.P100S|BLNK_uc001kly.4_Missense_Mutation_p.P100S|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Missense_Mutation_p.P100S|BLNK_uc001kmb.4_5'UTR|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_Missense_Mutation_p.P18S|BLNK_uc009xvd.3_Non-coding_Transcript NM_013314 NP_037446 Q8WV28 BLNK_HUMAN Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA. 100 Pro-rich. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) TGCTCTACTGGAGGCGGCTCG 0.602000 123 11 0 0 1 0 0 CLEC4M 10332 broad.mit.edu 37 19 7828326 7828326 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:7828326C>T uc010dvt.3 + 1 212 c.94C>T c.(94-96)Caa>Taa p.Q32* CLEC4M_uc010xjv.1_Nonsense_Mutation_p.Q32*|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc002mih.3_Nonsense_Mutation_p.Q32*|CLEC4M_uc010xjw.2_Nonsense_Mutation_p.Q32*|CLEC4M_uc010dvs.3_Nonsense_Mutation_p.Q31*|CLEC4M_uc010xjx.2_Intron|CLEC4M_uc002mhz.3_Nonsense_Mutation_p.Q32*|CLEC4M_uc002mic.3_Intron|CLEC4M_uc002mia.3_Nonsense_Mutation_p.Q32* NM_001144909 NP_001138381 Q9H2X3 CLC4M_HUMAN Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA. 32 cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 AAGAGACTTTCAATTCCAGCA 0.522000 70 8 0 0 1 0 0 SOX5 6660 broad.mit.edu 37 12 23999037 23999037 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:23999037C>T uc001rfw.3 - 2 463 c.361G>A c.(361-363)Ggc>Agc p.G121S SOX5_uc001rfx.3_Missense_Mutation_p.G108S|SOX5_uc001rfy.3_Missense_Mutation_p.G108S|SOX5_uc010siv.2_Missense_Mutation_p.G108S|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.G73S|SOX5_uc001rga.3_Missense_Mutation_p.G86S NM_006940 NP_694534 P35711 SOX5_HUMAN Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA. 121 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.G121V(2) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 AAGGACTCGCCACTCTGTCGC 0.493000 22 5 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2983977 2983977 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:2983977C>T uc003smv.3 - 4 887 c.553G>A c.(553-555)Gaa>Aaa p.E185K NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 185 T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.N184S(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCCCGCTCTTCCTTCATCTTG 0.562000 Mis DLBCL 114 10 0 0 1 0 0 GLRA1 2741 broad.mit.edu 37 5 151235888 151235888 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:151235888T>C uc003lut.3 - 4 820 c.533A>G c.(532-534)cAg>cGg p.Q178R GLRA1_uc003lur.3_Missense_Mutation_p.Q178R|GLRA1_uc003lus.3_Missense_Mutation_p.Q95R NM_001146040 NP_001139512 P23415 GLRA1_HUMAN Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA. 178 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GATACATGTCTGGACATCCAT 0.478000 42 6 0 0 1 0 0 PTH1R 5745 broad.mit.edu 37 3 46937283 46937283 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:46937283G>A uc003cqm.3 + 4 440 c.237G>A c.(235-237)agG>agA p.R79R PTH1R_uc021wxg.1_Silent_p.R79R NM_000316 NP_001171673 Q03431 PTH1R_HUMAN Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA. 79 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 GGAAGCCCAGGAAAGATAAGG 0.547000 OREG0015543 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 4 0 0 1 0 0 TTLL9 164395 broad.mit.edu 37 20 30486309 30486309 + Silent SNP C T T rs113297228 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:30486309C>T uc010gdx.1 + 3 400 c.147C>T c.(145-147)acC>acT p.T49T TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Missense_Mutation_p.P59S|TTLL9_uc010ztp.1_Non-coding_Transcript|U1_uc021wbu.1_5'Flank NM_001008409 NP_001008409 Q3SXZ7 TTLL9_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA. 49 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TCAAGACCACCCTCATGAACA 0.537000 56 6 0 0 1 0 0 LGALS14 56891 broad.mit.edu 37 19 40197299 40197299 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:40197299G>A uc002omf.3 + 2 606 c.165G>A c.(163-165)ccG>ccA p.P55P LGALS14_uc002omg.3_Silent_p.P26P NM_203471 NP_982297 Q8TCE9 PPL13_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 14 (LGALS14), transcript variant 2, mRNA. 26 Galectin. nucleus sugar binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2) 14 all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06) Myeloproliferative disorder(2;0.0741) Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22) CAGGGACACCGATCCTCACTT 0.493000 39 11 0 0 1 0 0 SPAG5 10615 broad.mit.edu 37 17 26910556 26910556 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:26910556G>A uc002hbq.3 - 14 2750 c.2658C>T c.(2656-2658)ctC>ctT p.L886L SPAG5_uc010waq.1_Silent_p.L291L NM_006461 NP_006452 Q96R06 SPAG5_HUMAN Homo sapiens sperm associated antigen 5 (SPAG5), mRNA. 886 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) TCTGTAGAAAGAGAGTCAGGC 0.433000 71 11 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848772 73848772 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:73848772G>A uc003xzb.3 + 2 1770 c.1182G>A c.(1180-1182)ggG>ggA p.G394G NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 394 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.L393L(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CATTACTAGGGAAAATTGTGG 0.438000 44 5 0 0 1 0 0 FAM24A 118670 broad.mit.edu 37 10 124671177 124671177 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:124671177G>A uc001lgv.3 + 1 148 c.27G>A c.(25-27)acG>acA p.T9T NM_001029888 NP_001025059 A6NFZ4 FA24A_HUMAN Homo sapiens family with sequence similarity 24, member A (FAM24A), mRNA. 9 extracellular region large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 9 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141) ATCTCAGGACGAAGATCATGA 0.488000 91 10 0 0 1 0 0 PRDM8 56978 broad.mit.edu 37 4 81123450 81123450 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:81123450C>T uc010ijo.3 + 7 1673 c.834C>T c.(832-834)tcC>tcT p.S278S PRDM8_uc003hmb.4_Silent_p.S278S|PRDM8_uc003hmc.4_Silent_p.S278S NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA. 278 Gly-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 GCAGCTGCTCCCCAGCCCAGA 0.726000 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 7 0 0 1 0 0 NPRL2 10641 broad.mit.edu 37 3 50385296 50385296 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:50385296G>A uc003daj.1 - 9 1372 c.969C>T c.(967-969)atC>atT p.I323I ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank NM_006545 NP_006536 Q8WTW4 NPRL2_HUMAN Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA. 323 negative regulation of kinase activity protein binding|protein kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 11 GTAGTCGCCTGATGAGGTTCT 0.587000 94 6 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180885547 180885547 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:180885547C>T uc001gok.2 + 1 375 c.308C>T c.(307-309)cCc>cTc p.P103L NM_020950 NP_066001 Q5VZ46 K1614_HUMAN Homo sapiens KIAA1614 (KIAA1614), mRNA. 103 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GGAGTGAGTCCCTGCTCTGCT 0.592000 66 25 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873709 36873709 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:36873709G>A uc003cgj.3 - 20 7481 c.7233C>T c.(7231-7233)ctC>ctT p.L2411L NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2411 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GGAACTCCAGGAGGGCTACTG 0.507000 110 7 0 0 1 0 0 GSTZ1 2954 broad.mit.edu 37 14 77795495 77795495 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:77795495G>A uc001xtj.3 + 5 654 c.372G>A c.(370-372)gaG>gaA p.E124E GSTZ1_uc001xtk.3_Silent_p.E82E|GSTZ1_uc010ass.3_Silent_p.E69E|GSTZ1_uc001xtm.3_Silent_p.E69E NM_145870 NP_001504 O43708 MAAI_HUMAN Homo sapiens glutathione transferase zeta 1 (GSTZ1), transcript variant 1, mRNA. 124 GST C-terminal. L-phenylalanine catabolic process|glutathione metabolic process|tyrosine catabolic process cytosol|mitochondrion glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity lung(2)|prostate(1) 3 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) Glutathione(DB00143) AAGTGGGAGAGGAGATGCAGC 0.577000 62 5 0 0 1 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18067039 18067039 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:18067039G>A uc003stz.3 - 0 448 c.367C>T c.(367-369)Cat>Tat p.H123Y NM_175886 NP_787082 P21108 PRPS3_HUMAN Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA. 123 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) GTGATGATATGATCCGCACCT 0.468000 69 23 0 0 1 0 0 TCP11L2 255394 broad.mit.edu 37 12 106729506 106729506 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:106729506G>A uc001tln.3 + 6 1036 c.862G>A c.(862-864)Gaa>Aaa p.E288K NM_152772 NP_689985 Q8N4U5 T11L2_HUMAN Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA. 288 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 TCCTGGGGCCGAAAATACCTC 0.383000 27 5 0 0 1 0 0 B3GNT3 10331 broad.mit.edu 37 19 17922427 17922427 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:17922427C>T uc002nhl.1 + 2 762 c.615C>T c.(613-615)ttC>ttT p.F205F B3GNT3_uc010ebd.1_Silent_p.F205F|B3GNT3_uc010ebe.1_Silent_p.F205F NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA. 205 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity p.F205F(2) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 ACGCCAGCTTCGTGCTCAACG 0.582000 34 12 0 0 1 0 0 DCAF4L1 285429 broad.mit.edu 37 4 41984005 41984005 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:41984005C>T uc003gwk.2 + 0 293 c.196C>T c.(196-198)Ccc>Tcc p.P66S NM_001029955 NP_001025126 Q3SXM0 DC4L1_HUMAN Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA. 66 breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1) 37 GAGCTTGGATCCCTCCTCTTT 0.532000 34 5 0 0 1 0 0 TYK2 7297 broad.mit.edu 37 19 10475316 10475316 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:10475316G>A uc002moc.4 - 8 1719 c.1341C>T c.(1339-1341)atC>atT p.I447I TYK2_uc010dxe.3_Silent_p.I262I|TYK2_uc002mod.2_Silent_p.I447I NM_003331 NP_003322 P29597 TYK2_HUMAN Homo sapiens tyrosine kinase 2 (TYK2), mRNA. 447 intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) TCCCATCCCGGATGCTCATCA 0.672000 54 7 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102460584 102460584 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:102460584C>T uc001yks.2 + 11 3243 c.3079C>T c.(3079-3081)Cct>Tct p.P1027S NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 1027 Stem (By similarity). G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 AACACGGATGCCTGATGGCCC 0.438000 94 13 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36321760 36321760 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:36321760C>T uc002oby.3 - 27 3736 c.3580G>A c.(3580-3582)Gat>Aat p.D1194N NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 1194 Binds to NPHS2. cell adhesion|excretion|muscle organ development integral to plasma membrane p.D1194N(2) NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGCACTTCATCGTAGAGGGGT 0.527000 90 12 0 0 1 0 0 SERPINA9 327657 broad.mit.edu 37 14 94931175 94931175 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:94931175T>G uc001ydf.3 - 3 1134 c.973A>C c.(973-975)Atc>Ctc p.I325L SERPINA9_uc001yde.3_Missense_Mutation_p.I225L|SERPINA9_uc010avc.3_Missense_Mutation_p.I176L|SERPINA9_uc001ydg.3_Missense_Mutation_p.I289L|SERPINA9_uc001ydh.1_Missense_Mutation_p.I325L|SERPINA9_uc001ydi.1_Missense_Mutation_p.I289L NM_175739 NP_783866 Q86WD7 SPA9_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA. 307 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) AATCTGGGGATGAACACCTCT 0.458000 33 5 0 0 1 0 0 PPP1R1B 84152 broad.mit.edu 37 17 37786251 37786251 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:37786251C>T uc002hrz.3 + 3 661 c.192C>T c.(190-192)ctC>ctT p.L64L PPP1R1B_uc010cvx.3_Intron|PPP1R1B_uc002hsb.3_Silent_p.L28L|PPP1R1B_uc002hsc.3_Silent_p.L28L NM_032192 NP_852606 Q9UD71 PPR1B_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1B (PPP1R1B), transcript variant 1, mRNA. 64 signal transduction cytosol protein kinase inhibitor activity|protein phosphatase inhibitor activity p.H63fs*26(1) kidney(1)|large_intestine(1)|liver(1)|lung(2) 5 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GGCACCATCTCAAGTCGAAGA 0.597000 37 7 0 0 1 0 0 MTPAP 55149 broad.mit.edu 37 10 30611337 30611337 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:30611337G>A uc001iva.4 - 5 1265 c.1202C>T c.(1201-1203)tCc>tTc p.S401F MTPAP_uc001ivb.4_Missense_Mutation_p.S531F NM_018109 NP_060579 Q9NVV4 PAPD1_HUMAN Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA. 401 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 GGTTTTTAAGGAATCTAGTGT 0.368000 56 6 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35957493 35957493 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:35957493C>T uc003jjv.2 - 4 1065 c.872G>A c.(871-873)gGg>gAg p.G291E UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.G291E|UGT3A1_uc011cor.2_Missense_Mutation_p.G257E NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA. 291 integral to membrane glucuronosyltransferase activity p.G291>?(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCCTGCATCCCCAAAGTTGGC 0.488000 31 4 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62254087 62254087 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:62254087G>A uc002agz.3 - 34 3700 c.3609C>T c.(3607-3609)ttC>ttT p.F1203F VPS13C_uc002aha.3_Silent_p.F1160F|VPS13C_uc002ahb.2_Silent_p.F1203F|VPS13C_uc002ahc.2_Silent_p.F1160F NM_020821 NP_065872 Q709C8 VP13C_HUMAN Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA. 1203 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 AATTATTCAGGAAGTTCTGTG 0.413000 7 4 0 0 1 0 0 ETV6 2120 broad.mit.edu 37 12 11992146 11992146 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:11992146T>C uc001qzz.3 + 2 510 c.236T>C c.(235-237)tTa>tCa p.L79S NM_001987 NP_001978 P41212 ETV6_HUMAN Homo sapiens ets variant 6 (ETV6), mRNA. 79 PNT. cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) GAGTTTTCTTTAAGGCCAATT 0.483000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 32 13 0 0 1 0 0 MORC2 22880 broad.mit.edu 37 22 31337476 31337476 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:31337476G>A uc003aje.1 - 9 1946 c.582C>T c.(580-582)ttC>ttT p.F194F NM_014941 NP_055756 Q9Y6X9 MORC2_HUMAN Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA. 256 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 GCCCATGGATGAAGATCCTCA 0.597000 19 3 0 0 1 0 0 NHLH1 4807 broad.mit.edu 37 1 160340542 160340542 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:160340542C>T uc021pbs.1 + 0 21 c.21C>T c.(19-21)acC>acT p.T7T NHLH1_uc001fwa.2_Silent_p.T7T NM_005598 NP_005589 Q02575 HEN1_HUMAN Homo sapiens nescient helix loop helix 1 (NHLH1), mRNA. 7 cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 7 all_cancers(52;7.11e-19)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACTCAGACACCATGGAGCTGG 0.667000 54 5 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56481936 56481936 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:56481936G>A uc002qmh.3 + 5 2479 c.2408G>A c.(2407-2409)aGa>aAa p.R803K NLRP8_uc010etg.3_Missense_Mutation_p.R803K NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 803 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GCCACCCCTAGAATTTGGACT 0.473000 111 11 0 0 1 0 0 LILRA5 353514 broad.mit.edu 37 19 54818742 54818742 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:54818742C>T uc002qfe.3 - 6 976 c.856G>A c.(856-858)Gat>Aat p.D286N LILRA5_uc002qff.3_Missense_Mutation_p.D274N NM_021250 NP_067073 A6NI73 LIRA5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA. 286 innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGTGCCAATCCTGAAATATC 0.527000 72 5 0 0 1 0 0 LRRC16A 55604 broad.mit.edu 37 6 25581586 25581586 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:25581586C>T uc011djw.2 + 30 3293 c.2925C>T c.(2923-2925)ccC>ccT p.P975P LRRC16A_uc010jpy.3_Silent_p.P975P NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA. 975 Inhibits capping activity of CAPZA2 (By similarity). actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 CTGAGTTGCCCTCTGAAGAGG 0.517000 19 3 0 0 1 0 0 ST3GAL1 6482 broad.mit.edu 37 8 134474168 134474168 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:134474168G>A uc003yuk.2 - 8 1628 c.799C>T c.(799-801)Cca>Tca p.P267S ST3GAL1_uc003yum.2_Missense_Mutation_p.P267S NM_173344 NP_775479 Q11201 SIA4A_HUMAN Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA. 267 protein glycosylation Golgi cisterna membrane|extracellular region|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) CCGGTAGATGGGTATCGCCCG 0.582000 109 9 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23853900 23853900 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:23853900C>T uc001wjv.3 - 35 5387 c.5316G>A c.(5314-5316)aaG>aaA p.K1772K NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 1772 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle p.L1771L(2) breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCTGCTCCTTCTTCAGCTCCT 0.622000 84 6 0 0 1 0 0 XKR6 286046 broad.mit.edu 37 8 10782217 10782217 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:10782217G>A uc003wtk.1 - 1 915 c.888C>T c.(886-888)ttC>ttT p.F296F NM_173683 NP_775954 Q5GH73 XKR6_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA. 296 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CGCTCTCCAGGAAGGTCTCCA 0.622000 73 10 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51263087 51263087 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:51263087C>T uc011bds.2 + 14 1283 c.1260C>T c.(1258-1260)atC>atT p.I420I NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. 420 DHR-1. cytoplasm GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CAGGTGATATCCGCAATGACC 0.468000 70 15 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89259167 89259167 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:89259167G>A uc003dqy.3 + 2 536 c.311G>A c.(310-312)cGa>cAa p.R104Q EPHA3_uc003dqx.1_Missense_Mutation_p.R104Q|EPHA3_uc021xbf.1_Missense_Mutation_p.R104Q NM_005233 NP_005224 P29320 EPHA3_HUMAN Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA. 104 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TTCACTCTACGAGACTGCAAT 0.443000 TSP Lung(6;0.00050) 41 5 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73066531 73066531 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:73066531C>T uc004ebm.1 - 0 c.6058G>A Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. CACTTTCCTTCTCTAGTGCAT 0.483000 8 3 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40433814 40433814 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:40433814G>A uc002omp.4 - 1 463 c.455C>T c.(454-456)tCa>tTa p.S152L NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 152 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ATTCCTGGCTGAGGTGCCGGG 0.597000 51 6 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247592898 247592898 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:247592898G>A uc001icr.3 + 5 2306 c.2168G>A c.(2167-2169)aGc>aAc p.S723N NLRP3_uc001ics.3_Missense_Mutation_p.S723N|NLRP3_uc001icu.3_Missense_Mutation_p.S723N|NLRP3_uc001icw.3_Intron|NLRP3_uc001icv.3_Intron|NLRP3_uc010pyw.2_Missense_Mutation_p.S721N NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 723 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TTGGTGAACAGCCACCTCACT 0.507000 118 8 0 0 1 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160274736 160274736 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:160274736C>T uc003iqg.4 + 21 4016 c.3706C>T c.(3706-3708)Cgc>Tgc p.R1236C NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA. 1236 MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction integral to plasma membrane|intracellular Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TCAGGGGGATCGCGCGTCACT 0.532000 68 18 0 0 1 0 0 GALNT14 79623 broad.mit.edu 37 2 31135152 31135152 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:31135152G>A uc002rns.3 - 14 2092 c.1452C>T c.(1450-1452)gtC>gtT p.V484V GALNT14_uc002rnq.3_Silent_p.V459V|GALNT14_uc010ymr.2_Silent_p.V444V|GALNT14_uc002rnr.3_Silent_p.V479V NM_001253826 NP_001240755 Q96FL9 GLT14_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA. 479 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) ACAAGGTGATGACTGACAGGC 0.557000 80 5 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120438486 120438486 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:120438486G>A uc001eij.3 - 0 662 c.474C>T c.(472-474)gtC>gtT p.V158V NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 158 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GGAGATAGACGACATGTTCAA 0.458000 713 51 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21028227 21028227 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:21028227C>T uc010sil.2 + 6 851 c.786C>T c.(784-786)ttC>ttT p.F262F SLCO1B3_uc001rek.3_Silent_p.F262F|SLCO1B3_uc001rel.3_Silent_p.F262F|SLCO1B3_uc010sim.2_Intron Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 262 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity p.G261G(1) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) GGCTTGGTTTCCTTGTGTCTG 0.363000 62 5 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66924059 66924059 + Missense_Mutation SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:66924059G>T uc002jhq.3 - 9 1611 c.1271C>A c.(1270-1272)cCa>cAa p.P424Q ABCA8_uc002jhp.3_Missense_Mutation_p.P424Q|ABCA8_uc010wqq.2_Missense_Mutation_p.P424Q|ABCA8_uc010wqr.2_Missense_Mutation_p.P363Q|ABCA8_uc002jhr.3_Missense_Mutation_p.P424Q NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 424 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) TTACTCACTTGGCAAAATTTT 0.299000 3 3 1 1 1 1 0 SRL 6345 broad.mit.edu 37 16 4253225 4253225 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:4253225G>A uc002cvz.4 - 2 214 c.201C>T c.(199-201)tcC>tcT p.S67S SRL_uc002cvy.4_Non-coding_Transcript NM_001098814 NP_001092284 Q86TD4 SRCA_HUMAN Homo sapiens sarcalumenin (SRL), mRNA. 526 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 GAGGCTTGATGGATGAGTGGT 0.567000 100 7 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113208209 113208209 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:113208209C>T uc010mtz.3 - 25 4708 c.4371G>A c.(4369-4371)atG>atA p.M1457I SVEP1_uc010mua.1_Missense_Mutation_p.M1457I NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 1457 Pentaxin. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CAGAGGATTTCATCCAGAAGG 0.453000 44 8 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71756976 71756976 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:71756976G>A uc003kce.1 - 1 534 c.348C>T c.(346-348)ttC>ttT p.F116F NM_152625 NP_689838 Q8N895 ZN366_HUMAN Homo sapiens zinc finger protein 366 (ZNF366), mRNA. 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GGGGCTGCGGGAACAGCAAAG 0.582000 165 27 0 0 1 0 0 DNTT 1791 broad.mit.edu 37 10 98079090 98079090 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:98079090C>T uc001kmf.3 + 2 620 c.450C>T c.(448-450)atC>atT p.I150I DNTT_uc001kmg.3_Silent_p.I150I NM_004088 NP_004079 P04053 TDT_HUMAN Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA. 150 DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) TACAAAAGATCTCCCAGTATG 0.453000 22 4 0 0 1 0 0 PKN1 5585 broad.mit.edu 37 19 14562690 14562690 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:14562690C>T uc002myp.3 + 6 1188 c.1020C>T c.(1018-1020)atC>atT p.I340I PKN1_uc002myq.3_Silent_p.I346I NM_002741 NP_002732 Q16512 PKN1_HUMAN Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA. 340 C2. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 CAGAGACCATCCCGTGGAACC 0.687000 28 5 0 0 1 0 0 SYN2 6854 broad.mit.edu 37 3 12208797 12208797 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:12208797C>T uc003bwm.3 + 10 1196 c.1032C>T c.(1030-1032)gcC>gcT p.A344A SYN2_uc003bwl.1_Silent_p.A344A|SYN2_uc003bwn.3_Silent_p.A22A NM_133625 NP_598328 Q86VA8 Q86VA8_HUMAN Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA. 348 neurotransmitter secretion synaptic vesicle ATP binding|ligase activity p.S343N(1) breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCAGATTGCCATGTCAGACA 0.512000 149 12 0 0 1 0 0 NEK1 4750 broad.mit.edu 37 4 170345807 170345807 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:170345807G>A uc003isd.2 - 30 3697 c.3119C>T c.(3118-3120)tCc>tTc p.S1040F NEK1_uc003ise.2_Missense_Mutation_p.S996F|NEK1_uc003isb.2_Missense_Mutation_p.S1012F|NEK1_uc003isc.2_Missense_Mutation_p.S968F|NEK1_uc003isf.2_Missense_Mutation_p.S943F NM_001199397 NP_001186326 Q96PY6 NEK1_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA. 1012 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1) 45 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) AAATGCAAAGGATTCTTCTGG 0.398000 12 4 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5242222 5242222 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:5242222G>A uc003jdl.3 + 16 2718 c.2580G>A c.(2578-2580)ttG>ttA p.L860L ADAMTS16_uc003jdk.1_Silent_p.L860L NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 860 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R859C(1) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TGCCTCGCTTGGGGACCGAGA 0.552000 63 5 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32065776 32065776 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:32065776C>T uc003nzl.2 - 1 402 c.200G>A c.(199-201)gGg>gAg p.G67E TNXB_uc010jts.1_Missense_Mutation_p.G66E|ATF6B_uc003nzm.1_3'UTR NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 67 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CTGCTTCTCCCCTCCTTCCAC 0.657000 281 27 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196746715 196746715 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:196746715C>T uc002utj.4 - 36 5865 c.5764_splice c.e36-1 p.G1922_splice NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1922 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTTTCCTATTCCCTGTTTATA 0.338000 24 5 0 0 1 0 0 RARS2 57038 broad.mit.edu 37 6 88240513 88240513 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:88240513G>A uc003pme.3 - 8 820 c.760C>T c.(760-762)Cgg>Tgg p.R254W RARS2_uc003pmc.3_Missense_Mutation_p.R79W|RARS2_uc003pmf.3_Non-coding_Transcript NM_020320 NP_064716 Q5T160 SYRM_HUMAN Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA. 254 arginyl-tRNA aminoacylation mitochondrial matrix ATP binding|arginine-tRNA ligase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) TTGTAAACCCGAATGTACTCT 0.473000 35 5 0 0 1 0 0 HIST2H2BF 440689 broad.mit.edu 37 1 149399195 149399195 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:149399195G>A uc010pbi.1 - 0 c.35C>T Q5QNW6 H2B2F_HUMAN Homo sapiens histone cluster 2, H3, pseudogene 2, mRNA (cDNA clone IMAGE:5190019). nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) CGCGAAAAAAGAGAACAGAGA 0.488000 29 4 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51738506 51738506 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:51738506C>T uc002pwa.2 + 4 880 c.840C>T c.(838-840)ttC>ttT p.F280F CD33_uc010eos.1_Silent_p.F280F|CD33_uc010eot.1_Silent_p.F153F|CD33_uc010eou.1_Non-coding_Transcript NM_001772 NP_001763 P20138 CD33_HUMAN Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA. 280 cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) TCATCTTCTTCATGTGAGCAT 0.567000 38 12 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71756757 71756757 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:71756757G>A uc003kce.1 - 1 753 c.567C>T c.(565-567)ttC>ttT p.F189F NM_152625 NP_689838 Q8N895 ZN366_HUMAN Homo sapiens zinc finger protein 366 (ZNF366), mRNA. 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) ACGAGGGCACGAAGAAGGGGA 0.687000 97 10 0 0 1 0 0 FBXL18 80028 broad.mit.edu 37 7 5541075 5541075 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:5541075C>T uc003soo.2 - 2 919 c.825G>A c.(823-825)gaG>gaA p.E275E FBXL18_uc003son.4_Silent_p.E275E NM_024963 NP_079239 Q96ME1 FXL18_HUMAN Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA. 275 FBXL18/RNF216(2) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3) 21 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) TGGCGCCGCTCTCCGCGAAGC 0.642000 36 5 0 0 1 0 0 PTHLH 5744 broad.mit.edu 37 12 28116635 28116635 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:28116635C>T uc001rik.3 - 2 473 c.170G>A c.(169-171)cGa>cAa p.R57Q PTHLH_uc001ril.3_Missense_Mutation_p.R57Q|PTHLH_uc001rim.3_Missense_Mutation_p.R57Q|PTHLH_uc001rin.3_Missense_Mutation_p.R57Q NM_198966 NP_945317 P12272 PTHR_HUMAN Homo sapiens parathyroid hormone-like hormone (PTHLH), transcript variant 4, mRNA. 57 Important for receptor binding. activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding p.R57Q(2) breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 10 Lung SC(9;0.184) AAGGAAGAATCGTCGCCGTAA 0.473000 103 19 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71267526 71267526 + Silent SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:71267526T>C uc001xmm.3 - 1 678 c.678A>G c.(676-678)ggA>ggG p.G226G MAP3K9_uc001xml.3_Silent_p.G226G NM_033141 NP_149132 P80192 M3K9_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA. 226 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) TATTCAAAGGTCCTCCACGAG 0.507000 59 5 0 0 1 0 0 CUZD1 50624 broad.mit.edu 37 10 124598641 124598641 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:124598641G>A uc001lgs.3 - 4 1291 c.340C>T c.(340-342)Cct>Tct p.P114S CUZD1_uc001lgp.3_5'Flank|CUZD1_uc009yad.3_5'Flank|CUZD1_uc009yaf.3_Intron|CUZD1_uc001lgr.3_5'UTR|CUZD1_uc010qty.2_5'UTR|CUZD1_uc009yae.3_5'UTR|CUZD1_uc010qtz.2_Missense_Mutation_p.P114S NM_022034 NP_071317 Q86UP6 CUZD1_HUMAN Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA. 114 CUB 1. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) TCAAATACAGGAACATAGTCG 0.408000 90 8 0 0 1 0 0 GBP1P1 400759 broad.mit.edu 37 1 89889921 89889921 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:89889921G>A uc009wcy.1 + 4 c.662G>A Homo sapiens guanylate binding protein 1, interferon-inducible pseudogene 1 (GBP1P1), non-coding RNA. GAGTTATCAGGAACACTTGAA 0.463000 333 37 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98495396 98495396 + Silent SNP C A A rs150341749 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:98495396C>A uc003upp.3 + 7 749 c.540C>A c.(538-540)ccC>ccA p.P180P TRRAP_uc011kis.2_Silent_p.P180P|TRRAP_uc003upr.3_5'Flank NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 180 histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AAGTGATCCCCGAGAACACAG 0.408000 65 4 1 1 1 1 0 IDO2 169355 broad.mit.edu 37 8 39821178 39821178 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:39821178C>T uc010lwy.1 + 2 432 c.190C>T c.(190-192)Cct>Tct p.P64S IDO2_uc003xno.1_Non-coding_Transcript NM_194294 NP_919270 Q6ZQW0 I23O2_HUMAN Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA. 51 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 CAACAAACTTCCTCAATTGAT 0.383000 13 3 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134988265 134988265 + Silent SNP C T T rs151240146 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:134988265C>T uc004ezh.3 + 5 704 c.537C>T c.(535-537)ccC>ccT p.P179P SAGE1_uc010nry.1_Silent_p.P148P|SAGE1_uc011mvv.2_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN Homo sapiens sarcoma antigen 1 (SAGE1), mRNA. 179 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) CAACTGGTCCCACAGGGCTTA 0.433000 29 8 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130288974 130288974 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:130288974C>T uc001qgg.4 - 1 1292 c.934G>A c.(934-936)Gac>Aac p.D312N NM_007037 NP_008968 Q9UP79 ATS8_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA. 312 Peptidase M12B. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) ATGGCCGTGTCGTAGTGCTCT 0.642000 148 8 0 0 1 0 0 ATXN7 6314 broad.mit.edu 37 3 63981439 63981439 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:63981439C>T uc003dlv.3 + 11 2494 c.1941C>T c.(1939-1941)tcC>tcT p.S647S ATXN7_uc003dlw.4_Silent_p.S647S|ATXN7_uc021wzy.1_Silent_p.S647S|ATXN7_uc011bfn.2_Silent_p.S502S NM_000333 NP_000324 O15265 ATX7_HUMAN Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA. 647 Poly-Ser.|Ser-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) GACAAGTGTCCTCTTCATCCT 0.512000 112 7 0 0 1 0 0 OCLN 100506658 broad.mit.edu 37 5 68805379 68805379 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:68805379G>A uc003jwu.3 + 2 898 c.462G>A c.(460-462)gtG>gtA p.V154V OCLN_uc003jwv.4_Silent_p.V154V|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_Intron|OCLN_uc021xzt.1_Intron NM_002538 NP_001192184 Q16625 OCLN_HUMAN Homo sapiens occludin (OCLN), transcript variant 1, mRNA. 154 MARVEL. cellular component disassembly involved in apoptosis|protein complex assembly integral to membrane|tight junction protein binding|structural molecule activity endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1) 6 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) CCGCGTTGGTGATCTTTGTTA 0.443000 64 7 0 0 1 0 0 NEK8 284086 broad.mit.edu 37 17 27064861 27064861 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:27064861C>T uc002hcp.3 + 6 914 c.914C>T c.(913-915)cCa>cTa p.P305L NM_178170 NP_835464 Q86SG6 NEK8_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA. 305 cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) CCTGTGAGGCCAGCCATCCCA 0.627000 139 11 0 0 1 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55286868 55286868 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55286868G>A uc010erz.1 + 3 660 c.622G>A c.(622-624)Gag>Aag p.E208K KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Non-coding_Transcript|KIR2DL1_uc002qhb.1_Missense_Mutation_p.E208K NM_014218 NP_055033 P43626 KI2L1_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA. 208 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CTCTCCATACGAGTGGTCAAA 0.552000 152 24 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64428293 64428293 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:64428293C>T uc021qkw.1 - 9 2579 c.2117G>A c.(2116-2118)cGa>cAa p.R706Q NRXN2_uc021qkx.1_Missense_Mutation_p.R675Q|NRXN2_uc001oas.3_Missense_Mutation_p.R675Q|NRXN2_uc001oaq.3_Missense_Mutation_p.R373Q NM_015080 NP_055895 Q9P2S2 NRX2A_HUMAN Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA. 706 EGF-like 2. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CCAGCCTTCTCGACAGACGCC 0.632000 52 6 0 0 1 0 0 SARS2 54938 broad.mit.edu 37 19 39409116 39409116 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:39409116G>A uc010xup.1 - 9 1028 c.868C>T c.(868-870)Cct>Tct p.P290S SARS2_uc002ojz.2_Missense_Mutation_p.P98S|SARS2_uc002oka.2_Missense_Mutation_p.P288S|SARS2_uc010xuq.1_Missense_Mutation_p.P288S|SARS2_uc010xur.1_Non-coding_Transcript NM_001145901 NP_001139373 Q9NP81 SYSM_HUMAN Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 288 seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity p.R290H(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) AAGCGGGCAGGGTCGATGTTG 0.592000 70 5 0 0 1 0 0 GRB10 2887 broad.mit.edu 37 7 50685828 50685828 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:50685828G>A uc003tpi.2 - 6 832 c.786C>T c.(784-786)ttC>ttT p.F262F GRB10_uc003tph.3_Silent_p.F204F|GRB10_uc003tpj.2_Silent_p.F262F|GRB10_uc003tpk.2_Silent_p.F262F|GRB10_uc010kzb.2_Silent_p.F204F|GRB10_uc003tpl.2_Silent_p.F256F|GRB10_uc003tpm.2_Silent_p.F204F NM_005311 NP_005302 Q13322 GRB10_HUMAN Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA. 262 insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane SH3/SH2 adaptor activity|insulin receptor binding NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) TCTGTTCTGGGAAGAAATTCT 0.383000 Russell-Silver syndrome 29 8 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558863 129558863 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:129558863C>T uc009zyl.1 - 8 3185 c.2857G>A c.(2857-2859)Gag>Aag p.E953K TMEM132D_uc001uia.2_Missense_Mutation_p.E491K NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 953 integral to membrane p.E953*(2)|p.F952L(1) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TCCTGCTCCTCGAAGGGAACC 0.458000 100 6 0 0 1 0 0 TMEM119 338773 broad.mit.edu 37 12 108985577 108985577 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:108985577C>T uc001tng.3 - 1 746 c.583G>A c.(583-585)Gac>Aac p.D195N TMEM119_uc021rdl.1_Missense_Mutation_p.D195N NM_181724 NP_859075 Q4V9L6 TM119_HUMAN Homo sapiens transmembrane protein 119 (TMEM119), mRNA. 195 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 CTGGCTCCGTCCCCACCGCCC 0.687000 43 7 0 0 1 0 0 OR9G4 283189 broad.mit.edu 37 11 56510346 56510346 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:56510346C>T uc010rjo.2 - 0 942 c.942G>A c.(940-942)gaG>gaA p.E314E NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA. 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TCCTGAAGGCCTCTTTGATAT 0.408000 51 5 0 0 1 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2403135 2403135 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:2403135G>A uc010xgx.2 + 4 510 c.510G>A c.(508-510)gtG>gtA p.V170V TMPRSS9_uc002lvv.1_Silent_p.V204V NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA. 170 LDL-receptor class A. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGACCAAGGTGAACCCGGAGT 0.602000 31 10 0 0 1 0 0 SLC25A45 283130 broad.mit.edu 37 11 65147374 65147374 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:65147374G>A uc001odr.1 - 3 321 c.117C>T c.(115-117)atC>atT p.I39I SLC25A45_uc009yqi.1_Silent_p.I39I|SLC25A45_uc001odq.1_Intron|SLC25A45_uc001ods.1_5'UTR|SLC25A45_uc001odt.1_5'UTR NM_182556 NP_001070709 Q8N413 S2545_HUMAN Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA. 39 transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 TGCAATCAACGATGCCCCGGT 0.622000 59 4 0 0 1 0 0 VSTM4 196740 broad.mit.edu 37 10 50294062 50294062 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:50294062G>A uc001jhf.2 - 2 493 c.464C>T c.(463-465)tCc>tTc p.S155F NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA. 155 Ig-like. integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 AGCTTTGAGGGAAATGACTGA 0.328000 31 4 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79207685 79207685 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:79207685C>T uc003hlb.2 + 13 1966 c.1526C>T c.(1525-1527)tCc>tTc p.S509F FRAS1_uc003hkw.3_Missense_Mutation_p.S509F|FRAS1_uc003hky.1_Missense_Mutation_p.S213F|FRAS1_uc003hkz.3_Missense_Mutation_p.S213F|FRAS1_uc003hla.1_Missense_Mutation_p.S20F NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 509 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GATCGCCATTCCTGTGCAGGT 0.622000 47 4 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220353934 220353935 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:220353934_220353935GG>AA uc010fwg.3 + 34 8308_8309 c.8308_8309GG>AA c.(8308-8310)ggt>AAt p.G2770N NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 2770 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CTTTGTCAGGGGTACTCAAGGT 0.609000 118 11 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154478223 154478223 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:154478223C>T uc010ipp.3 + 5 590 c.538C>T c.(538-540)Ctt>Ttt p.L180F KIAA0922_uc003inm.4_Missense_Mutation_p.L180F|KIAA0922_uc010ipq.3_Missense_Mutation_p.L32F NM_001131007 NP_001124479 A2VDJ0 T131L_HUMAN Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA. 180 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) GTATGGAGTCCTTTCCTATCA 0.348000 26 7 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994567 140994567 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:140994567C>T uc004fbt.3 + 3 1701 c.1377C>T c.(1375-1377)ttC>ttT p.F459F MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.F118F NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 459 protein binding p.L458V(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TGAGTCTTTTCCAGAGTTCCC 0.488000 HNSCC(15;0.026) 48 15 0 0 1 0 0 TMIE 259236 broad.mit.edu 37 3 46747307 46747307 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:46747307C>T uc010hjk.1 + 1 276 c.121C>T c.(121-123)Ccg>Tcg p.P41S TMIE_uc010hjj.1_Missense_Mutation_p.A80V NM_147196 NP_671729 Q8NEW7 TMIE_HUMAN Homo sapiens transmembrane inner ear (TMIE), mRNA. 41 integral to membrane endometrium(1)|lung(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) CAAGCCCAAGCCGCCTCCGCT 0.622000 OREG0015540 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 80 9 0 0 1 0 0 HERC2P9 440248 broad.mit.edu 37 15 28900772 28900772 + RNA SNP A C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:28900772A>C uc010uan.1 + 2 c.703A>C HERC2P9_uc010azc.3_Intron|HERC2P9_uc010uao.1_Non-coding_Transcript Homo sapiens hect domain and RLD 2 pseudogene 9 (HERC2P9), non-coding RNA. TGGGCTCATCAACAAGTACAT 0.567000 66 5 0 0 1 0 0 PIK3R4 30849 broad.mit.edu 37 3 130424436 130424436 + Missense_Mutation SNP A C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:130424436A>C uc003enj.3 - 11 3482 c.2901T>G c.(2899-2901)aaT>aaG p.N967K NM_014602 NP_055417 Q99570 PI3R4_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA. 967 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 CCCATTCAGCATTTTCCATCA 0.413000 32 5 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133384925 133384925 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:133384925G>A uc001ukz.1 - 4 1289 c.730C>T c.(730-732)Cgg>Tgg p.R244W GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.R244W|GOLGA3_uc001ulb.3_Missense_Mutation_p.R244W NM_005895 NP_005886 Q08378 GOGA3_HUMAN Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA. 244 Golgi-targeting domain. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity p.R244R(4) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCCAGAGACCGGATTTTGCTT 0.547000 139 13 0 0 1 0 0 TTLL4 9654 broad.mit.edu 37 2 219604796 219604796 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:219604796C>T uc002viy.3 + 3 1873 c.1503C>T c.(1501-1503)ctC>ctT p.L501L TTLL4_uc010zkl.1_Silent_p.L336L|TTLL4_uc010fvx.3_Silent_p.L501L NM_014640 NP_055455 Q14679 TTLL4_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA. 501 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) CTACTGACCTCCAGCCAGATC 0.458000 41 6 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108380811 108380811 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:108380811C>T uc001pkk.3 - 5 5534 c.5423G>A c.(5422-5424)cGa>cAa p.R1808Q EXPH5_uc010rvz.2_Missense_Mutation_p.R1652Q|EXPH5_uc010rvy.2_Missense_Mutation_p.R1620Q NM_015065 NP_055880 Q149M6 Q149M6_HUMAN Homo sapiens exophilin 5 (EXPH5), mRNA. 1808 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) ATGGCTTTTTCGTAGTAGATC 0.453000 71 7 0 0 1 0 0 ZNF184 7738 broad.mit.edu 37 6 27435652 27435652 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:27435652G>A uc003njj.3 - 1 866 c.55C>T c.(55-57)Ctc>Ttc p.L19F ZNF184_uc010jqv.3_Missense_Mutation_p.L19F|ZNF184_uc003nji.3_Missense_Mutation_p.L19F NM_007149 NP_009080 Q99676 ZN184_HUMAN Homo sapiens zinc finger protein 184 (ZNF184), mRNA. 19 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 GCTGATGAGAGTAGATTATGT 0.413000 32 12 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58124079 58124079 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:58124079G>A uc003djj.2 + 28 5097 c.4932G>A c.(4930-4932)ggG>ggA p.G1644G FLNB_uc010hne.2_Silent_p.G1675G|FLNB_uc003djk.2_Silent_p.G1644G|FLNB_uc010hnf.2_Silent_p.G1644G|FLNB_uc003djl.2_Silent_p.G1475G|FLNB_uc003djm.2_Silent_p.G1475G NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 1644 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding p.G1644G(2)|p.G1675G(1) NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) AGACTGCCGGGAAGGGTAAAG 0.522000 64 6 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16242646 16242646 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:16242646C>T uc001axk.1 + 5 1471 c.1267C>T c.(1267-1269)Cgc>Tgc p.R423C SPEN_uc010obp.1_Missense_Mutation_p.R382C NM_015001 NP_055816 Q96T58 MINT_HUMAN Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA. 423 Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent nucleus RNA binding|nucleotide binding|protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AAATGAATTTCGCCCCTTGGA 0.368000 35 14 0 0 1 0 0 GBP6 163351 broad.mit.edu 37 1 89846009 89846009 + Silent SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:89846009A>G uc001dnf.2 + 5 964 c.690A>G c.(688-690)aaA>aaG p.K230K GBP6_uc010ost.1_Silent_p.K100K NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA. 230 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) TCTTTCCAAAACGGAAGTGTT 0.413000 31 10 0 0 1 0 0 LRFN1 57622 broad.mit.edu 37 19 39798490 39798490 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:39798490G>A uc002okw.2 - 1 2099 c.2099C>T c.(2098-2100)cCg>cTg p.P700L NM_020862 NP_065913 Q9P244 LRFN1_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA. 700 cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GCGCTGCTGCGGCCTCGGCCG 0.716000 11 3 0 0 1 0 0 HPSE 10855 broad.mit.edu 37 4 84234385 84234386 + Missense_Mutation DNP GA AT AT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:84234385_84234386GA>AT uc003hoj.4 - 3 653_654 c.554_555TC>AT c.(553-555)atc>aAT p.I185N HPSE_uc003hoi.3_Intron|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Intron|HPSE_uc003hok.4_Missense_Mutation_p.I185N|HPSE_uc011cct.2_Missense_Mutation_p.I185N NM_001098540 NP_006656 Q9Y251 HPSE_HUMAN Homo sapiens heparanase (HPSE), transcript variant 2, mRNA. 185 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) TTAGGCCAAAGATCAAGTCCAG 0.406000 50 4 0 0 1 0 0 KLHL15 80311 broad.mit.edu 37 X 24006308 24006308 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:24006308G>A uc004dba.4 - 3 1801 c.1545C>T c.(1543-1545)taC>taT p.Y515Y NM_030624 NP_085127 Q96M94 KLH15_HUMAN Homo sapiens kelch-like 15 (Drosophila) (KLHL15), mRNA. 515 autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 22 TCTCTGGGTTGTATACTTCTG 0.468000 59 16 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161118948 161118948 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:161118948G>A uc003lyu.2 + 8 1165 c.827_splice c.e8-1 p.G276_splice GABRA6_uc003lyv.2_Splice_Site_p.G47_splice NM_000811 NP_000802 Q16445 GBRA6_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA. 276 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTATTTTAGGGATCACCACTG 0.388000 TCGA Ovarian(5;0.080) 52 4 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45795121 45795121 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:45795121C>T uc003bgc.3 - 5 1019 c.967G>A c.(967-969)Gaa>Aaa p.E323K SMC1B_uc003bgd.3_Missense_Mutation_p.E323K|SMC1B_uc003bge.1_Missense_Mutation_p.E106K NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA. 323 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding p.E323K(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CATTGTTTTTCGCTGTCCTTT 0.383000 80 11 0 0 1 0 0 MASP2 10747 broad.mit.edu 37 1 11102955 11102955 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:11102955C>T uc001aru.3 - 5 898 c.866G>A c.(865-867)tGg>tAg p.W289* NM_006610 NP_006601 O00187 MASP2_HUMAN Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA. 289 CUB 2. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) GTGGATCTTCCAGCCTGTGTG 0.532000 107 9 0 0 1 0 0 C3orf45 132228 broad.mit.edu 37 3 50316590 50316590 + Missense_Mutation SNP G A A rs145420790 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:50316590G>A uc003cyz.3 + 0 73 c.46G>A c.(46-48)Gag>Aag p.E16K NM_153215 NP_694947 Q8N112 CC045_HUMAN Homo sapiens chromosome 3 open reading frame 45 (C3orf45), mRNA. 16 integral to membrane endometrium(2)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CATGCCTGAGGAGACCCAAGA 0.602000 39 4 0 0 1 0 0 BPIFB1 92747 broad.mit.edu 37 20 31873905 31873905 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:31873905T>C uc002wyw.1 + 1 187 c.26T>C c.(25-27)cTt>cCt p.L9P BPIFB1_uc010gej.1_Missense_Mutation_p.L9P NM_033197 NP_149974 Q8TDL5 LPLC1_HUMAN Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA. 9 extracellular space lipid binding ACCTTCACCCTTCTCTGTGGT 0.577000 81 8 0 0 1 0 0 SMU1 55234 broad.mit.edu 37 9 33076601 33076601 + Silent SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:33076601C>A uc003zsf.1 - 0 114 c.6G>T c.(4-6)tcG>tcT p.S2S SMU1_uc011lnu.1_5'UTR NM_018225 NP_060695 Q2TAY7 SMU1_HUMAN Homo sapiens smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) (SMU1), mRNA. 2 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) CGATTTCGATCGACATAGCCG 0.627000 83 4 0.150653 0.151351 1 1 0 DENND1C 79958 broad.mit.edu 37 19 6479879 6479879 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:6479879G>A uc002mfe.3 - 2 209 c.117C>T c.(115-117)ttC>ttT p.F39F DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Intron NM_024898 NP_079174 Q8IV53 DEN1C_HUMAN Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA. 39 UDENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 CCTGGTCCCTGAAGTCTGGAG 0.642000 14 4 0 0 1 0 0 WDR77 79084 broad.mit.edu 37 1 111991770 111991770 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:111991770G>A uc001ebb.3 - 0 61 c.22C>T c.(22-24)Ccc>Tcc p.P8S WDR77_uc010owe.2_Missense_Mutation_p.P8S|WDR77_uc021orq.1_Missense_Mutation_p.P8S|ATP5F1_uc009wgf.1_Intron|ATP5F1_uc001ebc.3_5'UTR NM_024102 NP_077007 Q9BQA1 MEP50_HUMAN Homo sapiens WD repeat domain 77 (WDR77), mRNA. 8 ncRNA metabolic process|spliceosomal snRNP assembly cytosol|nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) GGCACTAGGGGGGGTGGGGTT 0.672000 13 6 0 0 1 0 0 CEACAM16 388551 broad.mit.edu 37 19 45208885 45208885 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:45208885C>T uc010xxd.2 + 4 893 c.687C>T c.(685-687)ctC>ctT p.L229L NM_001039213 NP_001034302 A7LI12 A7LI12_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA. 229 endometrium(3)|large_intestine(2)|lung(3)|ovary(1) 9 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) TGGCCATCCTCCAGGATTCCA 0.602000 179 30 0 0 1 0 0 OTUD7A 161725 broad.mit.edu 37 15 31795975 31795975 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:31795975G>A uc001zfq.3 - 6 1012 c.919C>T c.(919-921)Cac>Tac p.H307Y OTUD7A_uc001zfr.3_Missense_Mutation_p.H314Y NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN Homo sapiens OTU domain containing 7A (OTUD7A), mRNA. 307 Catalytic (By similarity).|OTU.|TRAF-binding (By similarity). cytoplasm|nucleus DNA binding|cysteine-type peptidase activity|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) ACAAAAACGTGGAACTCTTCC 0.478000 79 30 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21827146 21827146 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:21827146C>T uc003svc.3 + 60 9921 c.9890C>T c.(9889-9891)tCt>tTt p.S3297F NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 3297 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CGAACCAAATCTTTTGCAGCA 0.393000 Kartagener syndrome 11 5 0 0 1 0 0 CD1D 912 broad.mit.edu 37 1 158151829 158151829 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:158151829G>A uc001frr.3 + 3 835 c.336G>A c.(334-336)ttG>ttA p.L112L CD1D_uc009wsr.1_Silent_p.L112L|CD1D_uc009wss.3_Silent_p.L112L|CD1D_uc009wst.1_Silent_p.L8L NM_001766 NP_001757 P15813 CD1D_HUMAN Homo sapiens CD1d molecule (CD1D), mRNA. 112 T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) CAGATCCCTTGGAGCTCCAGG 0.463000 122 27 0 0 1 0 0 NOM1 64434 broad.mit.edu 37 7 156752695 156752695 + Silent SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:156752695T>C uc003wmy.3 + 3 1474 c.1459T>C c.(1459-1461)Ttg>Ctg p.L487L NOM1_uc010lqp.1_5'Flank NM_138400 NP_612409 Q5C9Z4 NOM1_HUMAN Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA. 487 MIF4G. RNA metabolic process nucleolus protein binding endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) CTTCGACATTTTGAAAAAACT 0.388000 43 7 0 0 1 0 0 CCDC3 83643 broad.mit.edu 37 10 13040470 13040470 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:13040470G>A uc001ilq.1 - 1 551 c.417C>T c.(415-417)ttC>ttT p.F139F CCDC3_uc009xjb.1_Intron|CCDC3_uc001ilr.2_Non-coding_Transcript|CCDC3_uc009xjc.1_Intron NM_031455 NP_113643 Q9BQI4 CCDC3_HUMAN Homo sapiens coiled-coil domain containing 3 (CCDC3), mRNA. 139 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2) 11 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(52;0.163) TGGCATCTTGGAAATTGACTC 0.458000 46 6 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8669951 8669951 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:8669951G>A uc002mkj.1 - 3 655 c.381C>T c.(379-381)caC>caT p.H127H ADAMTS10_uc002mkk.1_5'UTR NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 127 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GGCCCTGCAGGTGACCAGCGT 0.662000 21 5 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109808508 109808508 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:109808508C>T uc001dxa.4 + 13 5940 c.5879C>T c.(5878-5880)cCt>cTt p.P1960L NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA. 1960 Laminin EGF-like. Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TGTGACAACCCTTTTGCTGAG 0.607000 343 84 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183664516 183664516 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:183664516C>T uc003ivd.1 + 17 3648 c.3573C>T c.(3571-3573)ttC>ttT p.F1191F ODZ3_uc003ive.1_Silent_p.F597F NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1191 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TAGGCGATTTCAACTATGTGC 0.468000 24 7 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176709263 176709263 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:176709263C>T uc001gkz.3 + 13 5246 c.4082C>T c.(4081-4083)tCc>tTc p.S1361F PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1361 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AGGACATCCTCCCGCATTGGT 0.517000 3 5 0 0 1 0 0 MSS51 118490 broad.mit.edu 37 10 75187483 75187483 + Nonsense_Mutation SNP G A A rs138597910 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:75187483G>A uc009xrh.3 - 3 407 c.334C>T c.(334-336)Cga>Tga p.R112* MSS51_uc001juc.3_Nonsense_Mutation_p.R89*|MSS51_uc001jud.3_Nonsense_Mutation_p.R89*|MSS51_uc009xrg.3_Silent_p.F11F NM_001024593 NP_001019764 Q4VC12 ZMY17_HUMAN Homo sapiens zinc finger, MYND-type containing 17 (ZMYND17), mRNA. 89 zinc ion binding TGAGGACATCGAAATCCAAAG 0.488000 45 4 0 0 1 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40835847 40835847 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:40835847G>A uc002iay.3 + 1 292 c.76G>A c.(76-78)Gac>Aac p.D26N CCR10_uc002iax.4_5'Flank|CNTNAP1_uc010wgs.2_Non-coding_Transcript NM_003632 NP_003623 P78357 CNTP1_HUMAN Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA. 26 F5/8 type C. axon guidance|cell adhesion paranode region of axon SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) AGACGGCTGCGACGAGGAGCT 0.642000 35 5 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940456 144940456 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:144940456G>A uc003zaa.1 - 0 6979 c.6966C>T c.(6964-6966)ttC>ttT p.F2322F NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 2322 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCATGGCCTGGAAGAGGGAGA 0.701000 267 8 0 0 1 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73927255 73927255 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:73927255C>T uc003uaq.3 + 2 612 c.219C>T c.(217-219)ttC>ttT p.F73F GTF2IRD1_uc010lbq.3_Silent_p.F73F|GTF2IRD1_uc003uap.3_Silent_p.F73F|GTF2IRD1_uc003uar.1_Silent_p.F73F NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA. 73 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GGAGAATGTTCCTGAATGCCC 0.637000 67 4 0 0 1 0 0 KRT79 338785 broad.mit.edu 37 12 53224066 53224066 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:53224066C>T uc001sbb.3 - 2 742 c.709G>A c.(709-711)Gaa>Aaa p.E237K KRT79_uc001sba.3_Missense_Mutation_p.E8K NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN Homo sapiens keratin 79 (KRT79), mRNA. 237 Coil 1B.|Rod. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTGTTGATTTCATCCTCGTAC 0.572000 63 5 0 0 1 0 0 KIAA1522 57648 broad.mit.edu 37 1 33236644 33236645 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:33236644_33236645CC>TT uc001bvu.1 + 5 1908_1909 c.1864_1865CC>TT c.(1864-1866)cct>TTt p.P622F KIAA1522_uc010ohm.1_Missense_Mutation_p.P574F|KIAA1522_uc001bvv.2_Missense_Mutation_p.P563F|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA. 563 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TCTTCGCTCCCCTGGGGCCTCC 0.649000 103 7 0 0 1 0 0 KCNA10 3744 broad.mit.edu 37 1 111060743 111060743 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:111060743C>T uc001dzt.1 - 0 1055 c.667G>A c.(667-669)Gtg>Atg p.V223M NM_005549 NP_005540 Q16322 KCA10_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA. 223 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity p.S222S(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) ACAACCAACACCGAGACCACG 0.552000 41 9 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107977127 107977127 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:107977127C>T uc004eoc.2 - 0 2481 c.2448G>A c.(2446-2448)cgG>cgA p.R816R NM_003604 NP_003595 O14654 IRS4_HUMAN Homo sapiens insulin receptor substrate 4 (IRS4), mRNA. 816 plasma membrane SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity p.R816L(1) NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 AAGGTGAGCTCCGAAAAGGGT 0.502000 126 10 0 0 1 0 0 FAM75E1 286234 broad.mit.edu 37 9 90497824 90497824 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:90497824C>T uc004app.4 + 0 53 c.18C>T c.(16-18)atC>atT p.I6I FAM75E1_uc004apo.1_Silent_p.I6I NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA. 6 integral to membrane ATCTCGTCATCCCTCTAGGGA 0.607000 43 5 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10089819 10089819 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:10089819C>T uc002mmq.1 - 38 2949 c.2863G>A c.(2863-2865)Gag>Aag p.E955K NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 955 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TTGGCCCCCTCTCTGCCTTCC 0.587000 38 5 0 0 1 0 0 SLC12A9 56996 broad.mit.edu 37 7 100451836 100451836 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:100451836C>T uc003uwp.3 + 1 159 c.17C>T c.(16-18)tCa>tTa p.S6L SLC12A9_uc003uwo.1_Missense_Mutation_p.S6L|SLC12A9_uc003uwq.3_Missense_Mutation_p.S6L|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'Flank|SLC12A9_uc003uws.3_5'Flank|SLC12A9_uc003uwt.3_5'Flank NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA. 6 integral to membrane|plasma membrane cation:chloride symporter activity p.S6S(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) AGCGAGAGCTCACCTCTGCTG 0.632000 57 6 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19740809 19740809 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:19740809G>A uc002nnd.3 - 20 2993 c.2876C>T c.(2875-2877)cCg>cTg p.P959L LPAR2_uc002nnb.4_5'Flank|LPAR2_uc002nna.4_5'Flank|LPAR2_uc002nnc.4_5'Flank|GMIP_uc010xrb.2_Missense_Mutation_p.P933L|GMIP_uc010xrc.2_Missense_Mutation_p.P930L NM_016573 NP_057657 Q9P107 GMIP_HUMAN Homo sapiens GEM interacting protein (GMIP), mRNA. 959 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity|metal ion binding|protein binding p.P959P(1) breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CTGGACGTCCGGGCAGCAGGT 0.597000 16 4 0 0 1 0 0 GJC1 10052 broad.mit.edu 37 17 42882138 42882138 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:42882138C>T uc002ihj.3 - 1 1559 c.1048G>A c.(1048-1050)Gat>Aat p.D350N GJC1_uc002ihk.3_Missense_Mutation_p.D350N|GJC1_uc002ihl.3_Missense_Mutation_p.D350N|GJC1_uc021tyf.1_Missense_Mutation_p.D350N NM_005497 NP_005488 P36383 CXG1_HUMAN Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA. 350 cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1) 19 Prostate(33;0.0959) ACTGCCAGATCCAAGCGTTCC 0.577000 96 4 0 0 1 0 0 ZNF2 7549 broad.mit.edu 37 2 95847020 95847020 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:95847020C>T uc002suf.3 + 4 909 c.447C>T c.(445-447)tcC>tcT p.S149S ZNF2_uc002sug.3_Silent_p.S107S|ZNF2_uc010yue.2_Silent_p.S111S|ZNF2_uc010fhs.3_Silent_p.S69S NM_021088 NP_066574 Q9BSG1 ZNF2_HUMAN Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA. 149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 12 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) GTAAGAAATCCCTCTCCCGGG 0.522000 69 11 0 0 1 0 0 GCKR 2646 broad.mit.edu 37 2 27730116 27730116 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:27730116C>T uc002rky.3 + 12 1147 c.1081C>T c.(1081-1083)Cgt>Tgt p.R361C GCKR_uc010ezd.3_Missense_Mutation_p.R359C|GCKR_uc010ylu.2_Missense_Mutation_p.R171C NM_001486 NP_001477 Q14397 GCKR_HUMAN Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA. 361 SIS 2. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding p.R361H(1) breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) CCGAGATGTCCGTGGCTTTCT 0.498000 256 100 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94746604 94746604 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:94746604G>A uc022aye.1 - 0 2035 c.2035C>T c.(2035-2037)Cca>Tca p.P679S RBM12B_uc003yfz.3_Missense_Mutation_p.P679S NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA. 679 RNA binding|nucleotide binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) TCCTCCTCTGGGGGCCGTCTC 0.627000 106 5 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37603235 37603235 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:37603235C>T uc002yvg.3 + 13 2232 c.2153C>T c.(2152-2154)tCg>tTg p.S718L DOPEY2_uc011aeb.2_Missense_Mutation_p.S718L NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN Homo sapiens dopey family member 2 (DOPEY2), mRNA. 718 Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CCATCGTCTTCGCCCAGCAGC 0.552000 31 6 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223285804 223285804 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:223285804G>A uc021pjl.1 - 0 570 c.570C>T c.(568-570)ctC>ctT p.L190L TLR5_uc001hnv.2_Silent_p.L190L|TLR5_uc001hnw.2_Silent_p.L190L NM_003268 NP_003259 O60602 TLR5_HUMAN Homo sapiens toll-like receptor 5 (TLR5), mRNA. 190 MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) GTAGGGGCTCGAGCTCATGTT 0.423000 37 4 0 0 1 0 0 CNDP1 84735 broad.mit.edu 37 18 72234468 72234468 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:72234468G>A uc002llq.3 + 6 767 c.556_splice c.e6-1 p.D186_splice CNDP1_uc002lls.3_5'UTR NM_032649 NP_116038 Q96KN2 CNDP1_HUMAN Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA. 186 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) TGTTACTTAGGATCTTCCTGT 0.433000 30 6 0 0 1 0 0 ZNF599 148103 broad.mit.edu 37 19 35250155 35250155 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:35250155G>A uc010edn.1 - 3 1939 c.1551C>T c.(1549-1551)acC>acT p.T517T ZNF599_uc010edm.2_Silent_p.T480T NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN Homo sapiens zinc finger protein 599 (ZNF599), mRNA. 517 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TTGCAGGTTGGGTAAAAGCCT 0.408000 28 6 0 0 1 0 0 LOC100509575 100509575 broad.mit.edu 37 X 47969866 47969866 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:47969866G>A uc011mlv.2 + 3 142 c.70_splice c.e3-1 p.A24_splice LOC100509575_uc022bvt.1_Splice_Site NM_001205103 NP_001192032 B7Z813 B7Z813_HUMAN Homo sapiens putative protein SSX6-like (LOC100509575), mRNA. 24 regulation of transcription, DNA-dependent intracellular nucleic acid binding TTTTTTCCTAGGCCTTCGATG 0.443000 26 5 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20388965 20388965 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:20388965C>T uc010tkw.2 + 0 200 c.200C>T c.(199-201)tCc>tTc p.S67F NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L66H(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGAAACCTTTCCTTTGTTGAC 0.433000 49 4 0 0 1 0 0 ZP3 7784 broad.mit.edu 37 7 76062959 76062959 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:76062959C>T uc003ufd.4 + 3 718 c.708C>T c.(706-708)ttC>ttT p.F236F ZP3_uc003ufc.4_Silent_p.F185F|ZP3_uc003ufe.3_Silent_p.F144F NM_001110354 NP_009086 P21754 ZP3_HUMAN Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA. 236 ZP. binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of T cell proliferation|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade Golgi apparatus|endoplasmic reticulum|extracellular space|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 TCGTGGACTTCCATGGGTGAG 0.552000 74 5 0 0 1 0 0 FANK1 92565 broad.mit.edu 37 10 127693503 127693503 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:127693503G>A uc009yan.3 + 7 772 c.668G>A c.(667-669)cGa>cAa p.R223Q FANK1_uc001ljh.4_Missense_Mutation_p.R197Q|FANK1_uc001lji.3_Missense_Mutation_p.R191Q NM_145235 NP_660278 Q8TC84 FANK1_HUMAN Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA. 197 cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) AAATATCTCCGAAGACATGGC 0.512000 112 12 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807625 20807625 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:20807625G>A uc002npb.1 - 3 1208 c.1058C>T c.(1057-1059)tCc>tTc p.S353F ZNF626_uc002npc.1_Missense_Mutation_p.S277F NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA. 353 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 AAGGGTAGAGGAGTACTTAAA 0.393000 39 7 0 0 1 0 0 SFXN4 119559 broad.mit.edu 37 10 120914643 120914643 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:120914643G>A uc001leb.3 - 10 708 c.663C>T c.(661-663)tcC>tcT p.S221S SFXN4_uc001ldy.3_Silent_p.S105S|SFXN4_uc001lea.3_Non-coding_Transcript NM_213649 NP_998814 Q6P4A7 SFXN4_HUMAN Homo sapiens sideroflexin 4 (SFXN4), mRNA. 221 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 11 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0261) TCCCCTTAATGGATTCAAGAC 0.473000 68 10 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103299894 103299894 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:103299894C>T uc002tca.3 + 3 1321 c.1179C>T c.(1177-1179)ttC>ttT p.F393F NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA. 393 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 ACTGGGCCTTCGTCTGCTTCA 0.507000 21 16 0 0 1 0 0 VANGL2 57216 broad.mit.edu 37 1 160393950 160393950 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:160393950C>T uc001fwb.2 + 7 1481 c.1182C>T c.(1180-1182)atC>atT p.I394I VANGL2_uc001fwc.2_Silent_p.I394I NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA. 394 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCCAAGCCATCTTTGCATCCA 0.592000 51 6 0 0 1 0 0 PPP1R32 220004 broad.mit.edu 37 11 61250266 61250266 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:61250266C>T uc001nru.2 + 3 499 c.367C>T c.(367-369)Ccc>Tcc p.P123S PPP1R32_uc009ynq.2_Missense_Mutation_p.P123S NM_145017 NP_659454 Q7Z5V6 CK066_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 32 (PPP1R32), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 123 CAGTGCGGGTCCCCCCACCAA 0.682000 OREG0021002 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 6 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32050069 32050069 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:32050069G>A uc003nzl.2 - 8 3682 c.3480C>T c.(3478-3480)ccC>ccT p.P1160P NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1247 Fibronectin type-III 4. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TTCCCAGGTGGGGTGGAGTCC 0.562000 325 33 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24199170 24199170 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:24199170G>A uc003xdy.3 + 15 1813 c.1730G>A c.(1729-1731)gGa>gAa p.G577E ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.G264E NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 577 Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CCCTGGAAAGGACGGATAGTG 0.428000 50 12 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21229818 21229818 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:21229818G>A uc002red.3 - 25 10050 c.9922C>T c.(9922-9924)Cat>Tat p.H3308Y NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3308 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTAGGGACATGAAGGACTGGC 0.428000 233 13 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2071500 2071500 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:2071500G>A uc003wpx.4 + 29 3778 c.3640G>A c.(3640-3642)Gaa>Aaa p.E1214K MYOM2_uc011kwi.2_Missense_Mutation_p.E639K NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 1214 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GTCCATCCTTGAAATAGCTGG 0.403000 48 4 0 0 1 0 0 DPYSL2 1808 broad.mit.edu 37 8 26484171 26484171 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:26484171C>T uc003xfb.2 + 4 948 c.517C>T c.(517-519)Cgc>Tgc p.R173C DPYSL2_uc003xfa.3_Missense_Mutation_p.R278C|DPYSL2_uc011lag.2_Missense_Mutation_p.R173C|DPYSL2_uc011lah.2_Missense_Mutation_p.R137C NM_001386 NP_001377 Q16555 DPYL2_HUMAN Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA. 173 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) TTTCAAAGATCGCTTCCAGCT 0.453000 75 12 0 0 1 0 0 LLGL2 3993 broad.mit.edu 37 17 73569340 73569340 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:73569340C>T uc002joh.3 + 19 2860 c.2706C>T c.(2704-2706)gtC>gtT p.V902V LLGL2_uc002joi.3_Silent_p.V902V|LLGL2_uc010dgg.2_Silent_p.V902V|LLGL2_uc002joj.3_Silent_p.V891V|LLGL2_uc010wsd.2_Silent_p.V529V NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA. 902 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CCTCCTGCGTCTTCACCAAAT 0.677000 87 29 0 0 1 0 0 NR4A3 8013 broad.mit.edu 37 9 102590625 102590625 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:102590625C>T uc022bky.1 + 3 1102 c.334C>T c.(334-336)Cac>Tac p.H112Y NR4A3_uc004bae.3_Missense_Mutation_p.H101Y|NR4A3_uc004baf.1_Missense_Mutation_p.H101Y NM_173200 NP_008912 Q92570 NR4A3_HUMAN Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA. 101 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) tcaccaccaccaccaccacca 0.612000 T EWSR1 extraskeletal myxoid chondrosarcoma 17 10 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103234861 103234861 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:103234861C>T uc022ajr.1 - 25 3778 c.3618G>A c.(3616-3618)ggG>ggA p.G1206G RELN_uc022ajq.1_Silent_p.G1206G|RELN_uc010liz.3_Silent_p.G1206G NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 1206 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CATAGTCCTCCCCTGAGAACA 0.483000 43 6 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57957251 57957251 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:57957251C>T uc001sor.1 + 1 367 c.159C>T c.(157-159)ttC>ttT p.F53F KIF5A_uc010srr.1_Intron NM_004984 NP_004975 Q12840 KIF5A_HUMAN Homo sapiens kinesin family member 5A (KIF5A), mRNA. 53 Kinesin-motor. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 ACCGTGTATTCCCCCCAAACA 0.418000 36 7 0 0 1 0 0 GTPBP2 54676 broad.mit.edu 37 6 43591732 43591732 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:43591732G>A uc003ovs.3 - 7 1211 c.1174C>T c.(1174-1176)Ctg>Ttg p.L392L GTPBP2_uc010jyv.3_Silent_p.L304L NM_019096 NP_061969 Q9BX10 GTPB2_HUMAN Homo sapiens GTP binding protein 2 (GTPBP2), mRNA. 392 GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) AGTGGCGGCAGAATATTCAGA 0.512000 104 7 0 0 1 0 0 OR2H1 26716 broad.mit.edu 37 6 29429567 29429567 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:29429567C>T uc003nmi.3 + 2 464 c.21C>T c.(19-21)ccC>ccT p.P7P OR2H1_uc003nmj.1_Silent_p.P7P|OR2H1_uc010jri.2_Intron|OR2H1_uc021ytr.1_Silent_p.P7P NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA. 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 AAAGCTCCCCCATGGGCTTCC 0.522000 79 7 0 0 1 0 0 KAZN 23254 broad.mit.edu 37 1 15430618 15430618 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:15430618C>T uc001avm.4 + 12 2262 c.1981C>T c.(1981-1983)Ccc>Tcc p.P661S KAZN_uc001avs.4_Missense_Mutation_p.P108S NM_201628 NP_963922 Q674X7 KAZRN_HUMAN Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA. 661 SAM 3. keratinization cornified envelope|cytoplasm|desmosome|nucleus central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 CCTGGGCATCCCCAGTGGGAA 0.632000 18 7 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139144923 139144923 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:139144923G>A uc003yuy.3 - 19 4305 c.4134C>T c.(4132-4134)atC>atT p.I1378I FAM135B_uc003yux.3_Silent_p.I1279I|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 1378 p.L1377L(1) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CGGCTCGGCCGATCAGGGTGT 0.537000 HNSCC(54;0.14) 160 10 0 0 1 0 0 UROC1 131669 broad.mit.edu 37 3 126226858 126226858 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:126226858G>A uc010hsi.2 - 4 546 c.492C>T c.(490-492)ctC>ctT p.L164L UROC1_uc003eiz.2_Silent_p.L164L NM_001165974 NP_001159446 Q96N76 HUTU_HUMAN Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA. 164 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) TGCTGGGAAAGAGGCCAAGTG 0.597000 72 5 0 0 1 0 0 PRR25 388199 broad.mit.edu 37 16 857646 857646 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:857646G>A uc010uut.2 + 2 643 c.643_splice c.e2+1 p.D215_splice NM_001013638 NP_001013660 Q96S07 PRR25_HUMAN Homo sapiens proline rich 25 (PRR25), mRNA. 215 large_intestine(1)|lung(1)|skin(1) 3 CCCTCTTACAGGTGGGGAAAC 0.706000 23 3 0 0 1 0 0 CXCR4 7852 broad.mit.edu 37 2 136872835 136872835 + Silent SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:136872835A>T uc002tuz.3 - 1 758 c.663T>A c.(661-663)atT>atA p.I221I CXCR4_uc002tuy.3_Silent_p.I225I|CXCR4_uc010fnk.3_Silent_p.I206I NM_003467 NP_003458 P61073 CXCR4_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA. 221 activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) TGGAGATGATAATGCAATAGC 0.522000 74 5 0 0 1 0 0 SELE 6401 broad.mit.edu 37 1 169698647 169698647 + Missense_Mutation SNP C T T rs5364 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:169698647C>T uc001ggm.4 - 5 1040 c.883G>A c.(883-885)Gag>Aag p.E295K C1orf112_uc001ggj.3_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN Homo sapiens selectin E (SELE), mRNA. 295 Sushi 2. E -> K (in dbSNP:rs5364). actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) GTTGGCTTCTCGTTGTCCCAA 0.458000 25 8 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201009498 201009499 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:201009498_201009499GG>AA uc001gvv.3 - 42 5457_5458 c.5230_5231CC>TT c.(5230-5232)ccc>TTc p.P1744F NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 1744 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CTCCACCCTGGGGCACTGTTCC 0.550000 33 4 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1926164 1926164 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:1926164C>T uc002qxe.3 - 9 2204 c.1377G>A c.(1375-1377)agG>agA p.R459R MYT1L_uc002qxd.3_Silent_p.R459R|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 459 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCATATTGTCCCTCCTCCCAG 0.522000 114 8 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155505656 155505656 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:155505656G>A uc003iod.1 - 5 2279 c.2221C>T c.(2221-2223)Cac>Tac p.H741Y NM_000508 NP_000499 P02671 FIBA_HUMAN Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA. 741 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) ACCCGGAAGTGATATTCTGCA 0.522000 19 5 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32163542 32163542 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:32163542G>A uc001btk.1 - 5 987 c.622C>T c.(622-624)Cta>Tta p.L208L COL16A1_uc001btj.1_Silent_p.L37L|COL16A1_uc001btl.4_Silent_p.L208L NM_001856 NP_001847 Q07092 COGA1_HUMAN Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA. 208 TSP N-terminal. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) TCCAAGCCTAGAAATACATGG 0.627000 76 6 0 0 1 0 0 PTGS1 5742 broad.mit.edu 37 9 125148747 125148747 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:125148747C>T uc004bmg.1 + 8 1167 c.1032C>T c.(1030-1032)atC>atT p.I344I PTGS1_uc011lys.1_Silent_p.I319I|PTGS1_uc010mwb.1_Silent_p.I235I|PTGS1_uc004bmf.1_Silent_p.I344I|PTGS1_uc004bmh.1_Silent_p.I235I|PTGS1_uc011lyt.1_Silent_p.I235I NM_000962 NP_000953 P23219 PGH1_HUMAN Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA. 344 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154) AGATTGTCATCGAGGAGTACG 0.532000 93 6 0 0 1 0 0 FSCN3 29999 broad.mit.edu 37 7 127239557 127239557 + Missense_Mutation SNP G A A rs141748303 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:127239557G>A uc003vmd.2 + 4 1462 c.1243G>A c.(1243-1245)Gac>Aac p.D415N FSCN3_uc011koh.1_Missense_Mutation_p.D281N|FSCN3_uc010llc.2_Missense_Mutation_p.D415N NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA. 415 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 GGATCAGCCCGACCGCATTCA 0.547000 115 11 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38406955 38406955 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:38406955G>A uc003jlc.2 + 7 1200 c.854G>A c.(853-855)gGa>gAa p.G285E EGFLAM_uc003jlb.2_Missense_Mutation_p.G285E|EGFLAM_uc003jle.2_Missense_Mutation_p.G51E|EGFLAM_uc003jlf.2_Intron NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 285 cell junction|proteinaceous extracellular matrix|synapse p.G285E(2) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) GCTACCAAAGGAGGGAATAAG 0.428000 22 3 0 0 1 0 0 OSBPL8 114882 broad.mit.edu 37 12 76783474 76783474 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:76783474A>T uc001sye.1 - 11 1783 c.1303T>A c.(1303-1305)Ttc>Atc p.F435I OSBPL8_uc001syf.1_Missense_Mutation_p.F393I|OSBPL8_uc001syg.1_Missense_Mutation_p.F393I|OSBPL8_uc001syh.1_Missense_Mutation_p.F410I NM_020841 NP_001003712 Q9BZF1 OSBL8_HUMAN Homo sapiens oxysterol binding protein-like 8 (OSBPL8), transcript variant 1, mRNA. 435 lipid transport lipid binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2) 28 TTATCCAGGAAAGAACGGGGT 0.358000 60 6 0 0 1 0 0 CIB4 130106 broad.mit.edu 37 2 26818096 26818096 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:26818096G>A uc002rhm.3 - 3 305 c.276C>T c.(274-276)ttC>ttT p.F92F NM_001029881 NP_001025052 A0PJX0 CIB4_HUMAN Homo sapiens calcium and integrin binding family member 4 (CIB4), mRNA. 92 EF-hand 1. calcium ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTGCTCGCTGAACACAGATG 0.557000 51 5 0 0 1 0 0 LZTS2 84445 broad.mit.edu 37 10 102763707 102763707 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:102763707C>T uc001ksj.3 + 2 1022 c.852C>T c.(850-852)tcC>tcT p.S284S LZTS2_uc010qpw.2_Silent_p.S284S|LZTS2_uc001ksk.3_Silent_p.S284S|LZTS2_uc001ksl.3_Silent_p.S284S|LZTS2_uc001ksm.3_Non-coding_Transcript NM_032429 NP_115805 Q9BRK4 LZTS2_HUMAN Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA. 284 Required for centrosomal localization (By similarity).|Ser-rich. Wnt receptor signaling pathway|cell division|mitosis membrane|microtubule|microtubule organizing center p.S284S(2)|p.S147S(1) breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GCACAGGCTCCCTAGGGGGCC 0.711000 78 5 0 0 1 0 0 KRTAP5-7 440050 broad.mit.edu 37 11 71238544 71238544 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:71238544C>T uc001oqq.1 + 0 232 c.198C>T c.(196-198)ggC>ggT p.G66G NM_001012503 NP_001012521 Q6L8G8 KRA57_HUMAN Homo sapiens keratin associated protein 5-7 (KRTAP5-7), mRNA. 66 7 X 4 AA repeats of C-C-X-P. keratin filament p.G66G(2) breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1) 12 CCAAGGGAGGCTGTGGCTCCT 0.652000 180 11 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50475106 50475106 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:50475106G>A uc010ybk.1 + 2 137 c.31G>A c.(31-33)Gaa>Aaa p.E11K SIGLEC16_uc002prf.3_Intron Homo sapiens cDNA FLJ50062 complete cds, highly similar to Sialic acid-binding Ig-like lectin 11 precursor. endometrium(2)|kidney(2)|lung(6) 10 CCTAGTCCTGGAAAACCTGAG 0.642000 18 4 0 0 1 0 0 SGMS1 259230 broad.mit.edu 37 10 52103437 52103437 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:52103437G>A uc001jje.3 - 6 1392 c.438C>T c.(436-438)ttC>ttT p.F146F SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Silent_p.F146F|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Silent_p.F146F|SGMS1_uc021pqo.1_Silent_p.F146F|SGMS1_uc021pqp.1_Non-coding_Transcript NM_147156 NP_671512 Q86VZ5 SMS1_HUMAN Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA. 152 apoptosis|cell growth|sphingomyelin biosynthetic process Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 TGGTGAGAACGAAACAGGAAA 0.502000 38 6 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2573039 2573039 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:2573039C>T uc002wgf.1 + 7 933 c.918C>T c.(916-918)gtC>gtT p.V306V TMC2_uc002wgg.1_Silent_p.V290V|TMC2_uc010zpw.1_Silent_p.V138V|TMC2_uc010zpx.1_Silent_p.V137V NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN Homo sapiens transmembrane channel-like 2 (TMC2), mRNA. 306 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 ATTTTTCTGTCCTTTGGGATT 0.418000 52 7 0 0 1 0 0 PHKB 5257 broad.mit.edu 37 16 47730390 47730390 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:47730390C>T uc002eev.4 + 28 3046 c.2994C>T c.(2992-2994)atC>atT p.I998I PHKB_uc002eeu.4_Silent_p.I991I|PHKB_uc002eew.4_Silent_p.I239I NM_000293 NP_000284 Q93100 KPBB_HUMAN Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA. 998 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) ACAGACAGATCGTTGTAGAGG 0.423000 17 3 0 0 1 0 0 PCYT1A 5130 broad.mit.edu 37 3 195975103 195975103 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:195975103G>A uc003fwg.3 - 4 482 c.309C>T c.(307-309)ttC>ttT p.F103F PCYT1A_uc003fwh.3_Silent_p.F103F NM_005017 NP_005008 P49585 PCY1A_HUMAN Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA. 103 Catalytic (Potential). cytosol|soluble fraction choline-phosphate cytidylyltransferase activity cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) ACGTATTAGGGAAAAGGTTCT 0.443000 122 12 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40933060 40933060 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:40933060C>T uc002ibj.3 + 0 412 c.344C>T c.(343-345)cCt>cTt p.P115L WNK4_uc010wgx.2_5'UTR|WNK4_uc002ibk.1_5'Flank NM_032387 NP_115763 Q96J92 WNK4_HUMAN Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA. 115 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) GAGGGAGCCCCTGTGAAGGCT 0.716000 19 7 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4919811 4919811 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:4919811G>A uc001qng.3 + 0 1470 c.604G>A c.(604-606)Gat>Aat p.D202N KCNA6_uc021qtr.1_Missense_Mutation_p.D202N NM_002235 NP_002226 P17658 KCNA6_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA. 202 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 GTTCCGTGTAGATGGTCGAGG 0.547000 HNSCC(72;0.22) 39 6 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219292964 219292964 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:219292964G>A uc002vib.3 + 4 493 c.471G>A c.(469-471)tgG>tgA p.W157* VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Nonsense_Mutation_p.W157*|VIL1_uc002vic.1_Nonsense_Mutation_p.W157* NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 157 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGATGTCCTGGAAGAGTTTCA 0.562000 90 8 0 0 1 0 0 IGFBP1 3484 broad.mit.edu 37 7 45931652 45931652 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:45931652G>A uc003tnp.3 + 2 934 c.641G>A c.(640-642)aGc>aAc p.S214N NM_000596 NP_000587 P08833 IBP1_HUMAN Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA. 214 Thyroglobulin type-1. extracellular space insulin-like growth factor binding large_intestine(2)|lung(4) 6 TTTTATCACAGCAGACAGGTA 0.483000 33 6 0 0 1 0 0 RORC 6097 broad.mit.edu 37 1 151787712 151787712 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:151787712G>A uc001ezh.3 - 4 596 c.488C>T c.(487-489)tCg>tTg p.S163L RORC_uc001ezg.3_Missense_Mutation_p.S142L|RORC_uc010pdo.2_Missense_Mutation_p.S217L|RORC_uc010pdp.2_Missense_Mutation_p.S163L NM_005060 NP_005051 P51449 RORG_HUMAN Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA. 163 Hinge (Potential). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CAGGTCAGGCGAGGAGCCCAG 0.637000 45 4 0 0 1 0 0 MOGAT3 346606 broad.mit.edu 37 7 100841579 100841579 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:100841579C>T uc003uyc.3 - 4 728 c.561G>A c.(559-561)gtG>gtA p.V187V MOGAT3_uc010lhr.3_Silent_p.V187V NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA. 187 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) CCATGATGACCACGGCCTGCC 0.652000 38 6 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 GL000192.1 337960 337960 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrGL000192.1:337960G>A uc010yij.1 - 2 c.307C>T HYDIN_uc021vdl.1_Non-coding_Transcript NM_017558 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CTTTGATTCGGAGGGGCAGAC 0.428000 26 6 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50450371 50450371 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:50450371G>A uc003tow.4 + 4 710 c.555G>A c.(553-555)agG>agA p.R185R IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Silent_p.R98R|IKZF1_uc022acu.1_Silent_p.R98R|IKZF1_uc003tox.4_Silent_p.R185R|IKZF1_uc022acv.1_Silent_p.R98R|IKZF1_uc022acw.1_Silent_p.R98R|IKZF1_uc022acx.1_Silent_p.R185R|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Silent_p.R98R|IKZF1_uc003toy.4_Silent_p.R185R|IKZF1_uc003toz.4_Silent_p.R155R|IKZF1_uc010kyx.3_Intron NM_006060 NP_006051 Q13422 IKZF1_HUMAN Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA. 185 Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity). cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(131) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GCCGCCGGAGGGACGCCCTCA 0.652000 """D,T""" BCL6 """ALL, DLBCL""" 20 4 0 0 1 0 0 DCST1 149095 broad.mit.edu 37 1 155014008 155014008 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:155014008G>A uc001fgn.2 + 6 781 c.667G>A c.(667-669)Gag>Aag p.E223K DCST1_uc010per.2_Missense_Mutation_p.E248K|DCST1_uc010pes.2_Missense_Mutation_p.E198K NM_152494 NP_689707 Q5T197 DCST1_HUMAN Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA. 223 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CCAGGGCAGGGAGGCCCGCCA 0.607000 87 8 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3221983 3221983 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:3221983C>T uc021xkv.1 + 52 7462 c.7317C>T c.(7315-7317)ttC>ttT p.F2439F NM_002111 NP_002102 P42858 HD_HUMAN Homo sapiens huntingtin (HTT), mRNA. 2439 Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CCGTGGAGTTCCTCCAGGAAA 0.512000 109 8 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220333927 220333927 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:220333927G>A uc010fwg.3 + 12 3541 c.3541G>A c.(3541-3543)Gag>Aag p.E1181K NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 1181 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGAGCAGGGTGAGCTGGAGCG 0.652000 29 5 0 0 1 0 0 TPMT 7172 broad.mit.edu 37 6 18139944 18139944 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:18139944G>A uc003ncm.3 - 4 526 c.371C>T c.(370-372)tCt>tTt p.S124F TPMT_uc010jpm.1_Missense_Mutation_p.S124F NM_000367 NP_000358 P51580 TPMT_HUMAN Homo sapiens thiopurine S-methyltransferase (TPMT), mRNA. 124 xenobiotic metabolic process cytosol thiopurine S-methyltransferase activity large_intestine(2)|lung(1) 3 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.146) all cancers(50;0.06)|Epithelial(50;0.0654) Mercaptopurine(DB01033) GTTCCCCGAAGAACTCTGTAA 0.338000 18 5 0 0 1 0 0 C10orf27 219793 broad.mit.edu 37 10 72532279 72532279 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:72532279C>T uc010qjm.1 - 9 1354 c.964G>A c.(964-966)Gaa>Aaa p.E322K C10orf27_uc001jrj.1_Missense_Mutation_p.E321K|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Missense_Mutation_p.E320K NM_152710 NP_689923 Q96M53 SPATL_HUMAN Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA. 321 cell differentiation|multicellular organismal development|spermatogenesis cytosol cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2) 16 CCTGGTTTTTCGCTTTTTGTA 0.488000 59 5 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44578439 44578439 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:44578439C>T uc003tlb.3 - 1 1613 c.1557G>A c.(1555-1557)aaG>aaA p.K519K NPC1L1_uc011kbw.2_Silent_p.K519K|NPC1L1_uc003tlc.3_Silent_p.K519K|NPC1L1_uc003tld.3_Silent_p.K519K NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 519 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GAAAATGGTCCTTCCAGTCGA 0.612000 86 10 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17715363 17715363 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:17715363T>G uc001bak.1 + 7 950 c.950T>G c.(949-951)gTt>gGt p.V317G NM_207421 NP_997304 Q6TGC4 PADI6_HUMAN Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA. 309 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CCTCTGGAGGTTTACCTGTGC 0.542000 20 7 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64519170 64519170 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:64519170C>T uc001xgl.3 + 47 8769 c.8539C>T c.(8539-8541)Caa>Taa p.Q2847* SYNE2_uc001xgm.3_Nonsense_Mutation_p.Q2847*|SYNE2_uc021ruh.1_Nonsense_Mutation_p.Q2880* NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 2847 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAGGAAGTTTCAACTTATGGT 0.363000 37 6 0 0 1 0 0 EFEMP2 30008 broad.mit.edu 37 11 65638727 65638727 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:65638727C>T uc001ofy.4 - 3 527 c.268G>A c.(268-270)Gac>Aac p.D90N EFEMP2_uc001ofz.3_Non-coding_Transcript NM_016938 NP_058634 O95967 FBLN4_HUMAN Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA. 90 blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 READ - Rectum adenocarcinoma(159;0.169) CCGTGTAGGTCGTTGATGACG 0.647000 162 8 0 0 1 0 0 AVPI1 60370 broad.mit.edu 37 10 99439560 99439560 + Missense_Mutation SNP C T T rs150249445 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:99439560C>T uc001koi.2 - 2 606 c.103G>A c.(103-105)Gag>Aag p.E35K AVPI1_uc001koh.1_Missense_Mutation_p.E35K NM_021732 NP_068378 Q5T686 AVPI1_HUMAN Homo sapiens arginine vasopressin-induced 1 (AVPI1), mRNA. 35 cell cycle breast(1)|endometrium(1)|large_intestine(2)|skin(1) 5 Colorectal(252;0.162) Epithelial(162;8.37e-11)|all cancers(201;7.94e-09) TGCAGCAGCTCGGCGTCCTGG 0.672000 11 3 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800682 185800682 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:185800682C>T uc002uph.3 + 3 1153 c.559C>T c.(559-561)Cca>Tca p.P187S NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 187 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TGCTGAAGATCCAGAAAGTGC 0.363000 10 6 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32074473 32074473 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:32074473G>A uc003jhl.3 + 17 3649 c.3261G>A c.(3259-3261)ttG>ttA p.L1087L PDZD2_uc003jhm.3_Silent_p.L1087L|PDZD2_uc011cnx.1_Silent_p.L913L NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 1087 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CACCCAAATTGGAATACACAG 0.592000 122 12 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3900705 3900705 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:3900705G>A uc002cvv.3 - 1 595 c.391C>T c.(391-393)Ccc>Tcc p.P131S CREBBP_uc002cvw.3_Missense_Mutation_p.P131S NM_004380 NP_004371 Q92793 CBP_HUMAN Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA. 131 N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia cytoplasm|nuclear body MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GGCAGGCTGGGGGCTGAAGAA 0.642000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 91 8 0 0 1 0 0 CLCN3 1182 broad.mit.edu 37 4 170618790 170618790 + Missense_Mutation SNP C T T rs143120417 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:170618790C>T uc003ish.3 + 8 2027 c.1468C>T c.(1468-1470)Cgt>Tgt p.R490C CLCN3_uc003isi.3_Missense_Mutation_p.R490C|CLCN3_uc011cka.2_Missense_Mutation_p.R463C|CLCN3_uc011cjz.2_Missense_Mutation_p.R473C|CLCN3_uc003isj.2_Missense_Mutation_p.R463C NM_173872 NP_776297 P51790 CLCN3_HUMAN Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA. 490 endosomal lumen acidification Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) CATTCCTGATCGTCCAGCAGG 0.403000 38 5 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110932392 110932392 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:110932392C>T uc003hzy.4 + 23 3857 c.3405C>T c.(3403-3405)ccC>ccT p.P1135P EGF_uc011cfu.2_Silent_p.P1093P|EGF_uc011cfv.2_Silent_p.P1094P|EGF_uc010imk.3_Missense_Mutation_p.P257L NM_001963 NP_001954 P01133 EGF_HUMAN Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA. 1135 DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GGCAGGAGCCCCAGTTATGTG 0.453000 30 10 0 0 1 0 0 SLC13A5 284111 broad.mit.edu 37 17 6599089 6599089 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:6599089G>A uc002gdj.3 - 6 1099 c.1011C>T c.(1009-1011)ttC>ttT p.F337F SLC13A5_uc010clq.3_Silent_p.F294F|SLC13A5_uc002gdk.3_Silent_p.F320F|SLC13A5_uc010vtf.2_Silent_p.F337F|SLC13A5_uc002gdl.1_Silent_p.F319F NM_177550 NP_808218 Q86YT5 S13A5_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA. 337 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 AGCCGGGCATGAAGCCGGGGT 0.582000 137 8 0 0 1 0 0 RAB2A 5862 broad.mit.edu 37 8 61496785 61496785 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:61496785C>T uc003xud.2 + 3 503 c.205C>T c.(205-207)Cgt>Tgt p.R69C RAB2A_uc011lef.2_Missense_Mutation_p.R45C NM_002865 NP_002856 P61019 RAB2A_HUMAN Homo sapiens RAB2A, member RAS oncogene family (RAB2A), transcript variant 1, mRNA. 69 ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|melanosome GDP binding|GTP binding|GTPase activity endometrium(1)|large_intestine(1)|lung(4) 6 BRCA - Breast invasive adenocarcinoma(89;0.0805) AGAATCCTTTCGTTCCATCAC 0.368000 81 4 0 0 1 0 0 ZNF484 83744 broad.mit.edu 37 9 95610138 95610138 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:95610138C>T uc004asu.1 - 4 1080 c.931G>A c.(931-933)Gat>Aat p.D311N ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.D313N|ZNF484_uc004asv.1_Missense_Mutation_p.D275N|ZNF484_uc010mrb.1_Missense_Mutation_p.D275N NM_031486 NP_001007102 Q5JVG2 ZN484_HUMAN Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA. 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 AGGGAAAAATCCTTCTCATAT 0.433000 38 11 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48311534 48311534 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:48311534C>T uc003toq.2 + 16 2295 c.2271C>T c.(2269-2271)ttC>ttT p.F757F ABCA13_uc010kyr.2_Silent_p.F260F|ABCA13_uc022acp.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 757 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TTCCCAGTTTCCACAGCCTCC 0.373000 10 6 0 0 1 0 0 KLC1 3831 broad.mit.edu 37 14 104121127 104121127 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:104121127C>T uc001yno.3 + 1 534 c.226C>T c.(226-228)Ctg>Ttg p.L76L KLC1_uc010tyd.1_Silent_p.L235L|KLC1_uc010tye.1_Silent_p.L72L|KLC1_uc001ynm.1_Silent_p.L76L|KLC1_uc010tyf.2_Silent_p.L76L NM_182923 NP_891553 Q07866 KLC1_HUMAN Homo sapiens kinesin light chain 1 (KLC1), transcript variant 2, mRNA. 76 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) CCGGAAGTCACTGGAGATGTT 0.418000 38 4 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42005181 42005181 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:42005181C>T uc011kbh.2 - 14 3581 c.3490G>A c.(3490-3492)Gaa>Aaa p.E1164K GLI3_uc011kbg.2_Missense_Mutation_p.E1105K NM_000168 NP_000159 P10071 GLI3_HUMAN Homo sapiens GLI family zinc finger 3 (GLI3), mRNA. 1164 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E1164K(2) NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 GAGCTGACTTCGTTCCACTGA 0.677000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 206 16 0 0 1 0 0 ARL13B 200894 broad.mit.edu 37 3 93758803 93758803 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:93758803T>G uc003drc.3 + 5 1054 c.769T>G c.(769-771)Ttc>Gtc p.F257V ARL13B_uc010hop.3_Missense_Mutation_p.F108V|ARL13B_uc003drf.3_Missense_Mutation_p.F257V|ARL13B_uc003drg.3_Missense_Mutation_p.F154V|ARL13B_uc003drd.3_Missense_Mutation_p.F150V|ARL13B_uc003dre.3_Missense_Mutation_p.F242V NM_182896 NP_001167622 Q3SXY8 AR13B_HUMAN Homo sapiens ADP-ribosylation factor-like 13B (ARL13B), transcript variant 1, mRNA. 257 GTP binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2) 10 AACGAATCCTTTCCAGCCAAT 0.393000 46 5 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81647091 81647091 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:81647091C>T uc001szl.1 + 13 1816 c.1725C>T c.(1723-1725)atC>atT p.I575I ACSS3_uc001szm.1_Silent_p.I574I|ACSS3_uc001szn.1_Silent_p.I257I NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA. 575 mitochondrion ATP binding|acetate-CoA ligase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TACAGTCAATCCTTTCCCATG 0.358000 77 4 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156757823 156757823 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:156757823C>T uc021ygm.1 + 19 2365 c.2227C>T c.(2227-2229)Cgc>Tgc p.R743C CYFIP2_uc011ddn.2_Missense_Mutation_p.R718C|CYFIP2_uc011ddo.2_Missense_Mutation_p.R548C|CYFIP2_uc021ygn.1_Missense_Mutation_p.R743C|CYFIP2_uc021ygo.1_Missense_Mutation_p.R743C|CYFIP2_uc003lwt.3_Missense_Mutation_p.R647C|CYFIP2_uc011ddp.2_Missense_Mutation_p.R478C NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA. 769 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACCGTCCAATCGCTATGAAAC 0.493000 152 26 0 0 1 0 0 CHI3L1 1116 broad.mit.edu 37 1 203148912 203148912 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:203148912C>T uc001gzi.2 - 8 1159 c.988G>A c.(988-990)Gac>Aac p.D330N CHI3L1_uc001gzk.1_Missense_Mutation_p.D66N|CHI3L1_uc001gzj.2_Missense_Mutation_p.D269N|CHI3L1_uc001gzl.3_5'Flank NM_001276 NP_001267 P36222 CH3L1_HUMAN Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA. 330 chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1) 18 CTTTCCTGGTCGTCGTATCCT 0.582000 104 22 0 0 1 0 0 KATNAL2 83473 broad.mit.edu 37 18 44580782 44580782 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:44580782C>T uc002lco.3 + 2 283 c.89C>T c.(88-90)cCg>cTg p.P30L KATNAL2_uc010dnq.1_Intron NM_031303 NP_112593 Q8IYT4 KATL2_HUMAN Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA. 102 LisH. cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity p.P30L(2) central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 27 AATAATTTACCGCAAAGAAGT 0.388000 102 6 0 0 1 0 0 KRTAP5-11 440051 broad.mit.edu 37 11 71293788 71293788 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:71293788G>A uc001oqu.3 - 0 134 c.96C>T c.(94-96)ggC>ggT p.G32G NM_001005405 NP_001005405 Q6L8G4 KR511_HUMAN Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA. 32 keratin filament endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 AGCAGCTGGAGCCACAGCCCC 0.657000 67 8 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5897526 5897526 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:5897526C>T uc002wmg.3 + 2 457 c.151C>T c.(151-153)Cca>Tca p.P51S CHGB_uc010zqz.2_5'UTR NM_001819 NP_001810 P05060 SCG1_HUMAN Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA. 51 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GTCCAGCGCTCCACCCATCAC 0.562000 53 5 0 0 1 0 0 CCR5 1234 broad.mit.edu 37 3 46415432 46415432 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:46415432G>A uc003cpo.4 + 2 1161 c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K CCR5_uc010hjd.3_Missense_Mutation_p.E347K|CCR5_uc021wxb.1_Missense_Mutation_p.E347K NM_001100168 NP_001093638 P51681 CCR5_HUMAN Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA. 347 cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) TGGGGAGCAGGAAATATCTGT 0.532000 34 5 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126137155 126137155 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:126137155G>A uc001uhe.1 + 7 2076 c.2068G>A c.(2068-2070)Gat>Aat p.D690N TMEM132B_uc001uhf.1_Missense_Mutation_p.D202N NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 690 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TGCTGCCCTGGATGTTCTTCA 0.602000 39 5 0 0 1 0 0 C17orf101 79701 broad.mit.edu 37 17 80373278 80373278 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:80373278G>A uc002ket.2 - 1 452 c.300C>T c.(298-300)ttC>ttT p.F100F C17orf101_uc010dip.2_Intron|C17orf101_uc002keu.2_Silent_p.F100F|HEXDC_uc002kev.4_5'Flank NM_175902 NP_787098 Q6PK18 CQ101_HUMAN Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA. 100 integral to membrane L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.F100F(2)|p.R99S(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 14 AACTACCTTCGAACCTGCGGT 0.567000 160 11 0 0 1 0 0 MTMR7 9108 broad.mit.edu 37 8 17218677 17218677 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:17218677C>T uc003wxm.3 - 3 656 c.417G>A c.(415-417)atG>atA p.M139I NM_004686 NP_004677 Q9Y216 MTMR7_HUMAN Homo sapiens myotubularin related protein 7 (MTMR7), mRNA. 139 Myotubularin phosphatase. protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) TAGGGAGGCCCATCCGCGTGT 0.463000 53 4 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21119942 21119942 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:21119942G>A uc002zsz.4 - 19 2455 c.2194C>T c.(2194-2196)Cgg>Tgg p.R732W NM_058004 NP_477352 P42356 PI4KA_HUMAN Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA. 732 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TTCTGTAACCGAGGCTTAGCT 0.532000 72 8 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104071241 104071241 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:104071241T>A uc001tjw.3 + 24 2843 c.2657T>A c.(2656-2658)aTc>aAc p.I886N NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 886 EGF-like 8. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GCAGAATGCATCAAAACTGGC 0.507000 77 9 0 0 1 0 0 SV2B 9899 broad.mit.edu 37 15 91809816 91809816 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:91809816C>T uc002bqv.3 + 7 1904 c.1013C>T c.(1012-1014)tCc>tTc p.S338F SV2B_uc002bqt.3_Missense_Mutation_p.S338F|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.S187F NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA. 338 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) TTTCAGGTTTCCAACATCAAA 0.368000 150 45 0 0 1 0 0 YARS 8565 broad.mit.edu 37 1 33252005 33252005 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:33252005G>A uc001bvy.1 - 7 1652 c.864C>T c.(862-864)acC>acT p.T288T YARS_uc001bvx.1_5'Flank NM_003680 NP_003671 P54577 SYYC_HUMAN Homo sapiens tyrosyl-tRNA synthetase (YARS), mRNA. 288 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) AAGCTGTGTAGGTTTTGTTTC 0.398000 47 4 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21108375 21108375 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:21108375C>T uc001iqi.3 - 19 2430 c.2033G>A c.(2032-2034)cGa>cAa p.R678Q NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 678 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CTCCTGGTTTCGCCTCACTCT 0.433000 55 5 0 0 1 0 0 NXF5 55998 broad.mit.edu 37 X 101092552 101092552 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:101092552G>A uc011mrk.1 - 14 1354 c.994C>T c.(994-996)Cag>Tag p.Q332* NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA. 332 NTF2; truncated. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding p.Q332E(2) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 AAGTCATGCTGAGTTTCAGGC 0.542000 47 7 0 0 1 0 0 GLUD1 2746 broad.mit.edu 37 10 88819996 88819996 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:88819996G>A uc001keh.3 - 8 1450 c.1200C>T c.(1198-1200)atC>atT p.I400I GLUD1_uc001keg.3_Silent_p.I233I|GLUD1_uc010qmp.2_Silent_p.I267I NM_005271 NP_005262 P00367 DHE3_HUMAN Homo sapiens glutamate dehydrogenase 1 (GLUD1), nuclear gene encoding mitochondrial protein, mRNA. 400 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|GTP binding|NAD+ binding|glutamate dehydrogenase|glutamate dehydrogenase activity|identical protein binding|leucine binding endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1) 22 L-Glutamic Acid(DB00142)|NADH(DB00157) CTTCAGCAATGATCTGCAAGA 0.453000 107 7 0 0 1 0 0 BIRC8 112401 broad.mit.edu 37 19 53793153 53793153 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:53793153C>T uc002qbk.3 - 0 1723 c.475G>A c.(475-477)Gac>Aac p.D159N NM_033341 NP_203127 Q96P09 BIRC8_HUMAN Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA. 159 apoptosis zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) TCTGTAGTGTCTTTCTGAGCG 0.418000 74 12 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42049697 42049698 + Missense_Mutation DNP TC AT AT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:42049697_42049698TC>AT uc001cgz.4 - 3 1984_1985 c.771_772GA>AT c.(769-774)gagatg>gaATtg p.M258L HIVEP3_uc001cha.4_Missense_Mutation_p.M258L|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 258 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TGTGGGTACATCTCGCCACCCA 0.564000 79 5 0 0 1 0 0 DDX56 54606 broad.mit.edu 37 7 44605609 44605609 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:44605609G>A uc003tlg.3 - 13 2279 c.1636C>T c.(1636-1638)Ccc>Tcc p.P546S DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Missense_Mutation_p.P506S NM_019082 NP_061955 Q9NY93 DDX56_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA. 546 rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|RNA binding|identical protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1) 16 CCTCAGGAGGGCTTGGCTGTG 0.557000 OREG0018039 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 4 0 0 1 0 0 EHMT1 79813 broad.mit.edu 37 9 140637883 140637883 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:140637883C>T uc011mfc.2 + 4 921 c.884C>T c.(883-885)aCc>aTc p.T295I EHMT1_uc004coa.3_Missense_Mutation_p.T295I|EHMT1_uc004cob.1_Missense_Mutation_p.T264I|EHMT1_uc010ncn.1_Non-coding_Transcript NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA. 295 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) AGAATGGGAACCTATAGCCTG 0.383000 18 4 0 0 1 0 0 TCF23 150921 broad.mit.edu 37 2 27373228 27373228 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:27373228C>T uc010ylg.2 + 1 517 c.460C>T c.(460-462)Ctc>Ttc p.L154F NM_175769 NP_786951 Q7RTU1 TCF23_HUMAN Homo sapiens transcription factor 23 (TCF23), mRNA. 154 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus large_intestine(2)|lung(11)|prostate(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTGCACCCTCTCAAGGTAAG 0.627000 221 19 0 0 1 0 0 GCK 2645 broad.mit.edu 37 7 44190569 44190569 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:44190569C>T uc003tkl.2 - 3 939 c.469G>A c.(469-471)Gaa>Aaa p.E157K GCK_uc003tkj.1_Missense_Mutation_p.E156K|GCK_uc003tkk.1_Missense_Mutation_p.E158K NM_000162 NP_000153 P35557 HXK4_HUMAN Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA. 157 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding p.E158K(2) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 TCGATGTCTTCGTGCCTCACA 0.567000 359 20 0 0 1 0 0 DMBX1 127343 broad.mit.edu 37 1 46976227 46976227 + Silent SNP C T T rs138324077 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:46976227C>T uc001cpx.3 + 1 264 c.249C>T c.(247-249)ctC>ctT p.L83L DMBX1_uc001cpw.3_Silent_p.L78L NM_147192 NP_671725 Q8NFW5 DMBX1_HUMAN Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA. 83 Interacts with OXT2 and is required for repressor activity (By similarity). brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) CTCAGCAGCTCGAGGCCCTGG 0.592000 40 4 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35538187 35538187 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:35538187G>A uc002hnm.3 - 39 4967 c.4776C>T c.(4774-4776)tcC>tcT p.S1592S ACACA_uc002hnk.3_Silent_p.S1514S|ACACA_uc002hnl.3_Silent_p.S1534S|ACACA_uc002hnn.3_Silent_p.S1592S|ACACA_uc002hno.3_Silent_p.S1629S|ACACA_uc010cuy.3_Silent_p.S286S NM_198836 NP_942135 Q13085 ACACA_HUMAN Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA. 1592 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TTGTCCCTAAGGATTGTGCCT 0.453000 89 23 0 0 1 0 0 FAM83C 128876 broad.mit.edu 37 20 33875357 33875357 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:33875357G>A uc021wck.1 - 3 1343 c.1225C>T c.(1225-1227)Ctc>Ttc p.L409F EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Intron NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA. 409 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) GCCCTATAGAGCCCAGGAGGG 0.627000 35 7 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4260871 4260871 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:4260871G>A uc003smx.3 + 40 5841 c.5702_splice c.e40-1 p.G1901_splice SDK1_uc010kso.3_Splice_Site_p.G1157_splice|SDK1_uc003smy.3_Splice_Site_p.G388_splice NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 1901 cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TATCCCGCAGGATCCCCGGGC 0.617000 28 5 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390934 197390934 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:197390934C>T uc001gtz.3 + 5 2185 c.1976C>T c.(1975-1977)tCg>tTg p.S659L CRB1_uc010poz.2_Missense_Mutation_p.S590L|CRB1_uc009wza.3_Missense_Mutation_p.S547L|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.S659L|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.S140L|CRB1_uc001gub.1_Missense_Mutation_p.S308L NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 659 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GAGAACATCTCGTCTGGCTCA 0.448000 49 7 0 0 1 0 0 SLC25A41 284427 broad.mit.edu 37 19 6432104 6432104 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:6432104G>A uc010dus.3 - 1 405 c.319C>T c.(319-321)Cgc>Tgc p.R107C SLC25A41_uc010dut.3_5'UTR NM_173637 NP_775908 Q8N5S1 S2541_HUMAN Homo sapiens solute carrier family 25, member 41 (SLC25A41), mRNA. 107 transmembrane transport integral to membrane|mitochondrial inner membrane binding large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 6 GTGCCCGTGCGAGACACCGCC 0.617000 49 7 0 0 1 0 0 SLC12A3 6559 broad.mit.edu 37 16 56917964 56917964 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:56917964G>A uc002ekd.4 + 13 1702 c.1673G>A c.(1672-1674)tGg>tAg p.W558* SLC12A3_uc010ccm.3_Nonsense_Mutation_p.W558*|SLC12A3_uc010ccn.3_Nonsense_Mutation_p.W557* NM_000339 NP_000330 P55017 S12A3_HUMAN Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA. 558 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) GGCCCAGGGTGGAGACCTTCA 0.607000 46 7 0 0 1 0 0 SLC2A10 81031 broad.mit.edu 37 20 45353692 45353692 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:45353692C>T uc002xsl.3 + 1 114 c.17C>T c.(16-18)cCt>cTt p.P6L NM_030777 NP_110404 O95528 GTR10_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA. 6 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) CACTCCCCACCTGTCCTGCCT 0.512000 79 13 0 0 1 0 0 OR2B11 127623 broad.mit.edu 37 1 247614755 247614755 + Missense_Mutation SNP A C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:247614755A>C uc010pyx.2 - 0 530 c.530T>G c.(529-531)gTg>gGg p.V177G NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA. 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GTTGTTCAGCACCTGCCGCCC 0.592000 18 3 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216420104 216420104 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:216420104G>A uc001hku.1 - 12 3019 c.2632C>T c.(2632-2634)Cgc>Tgc p.R878C USH2A_uc001hkv.3_Missense_Mutation_p.R878C NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 878 Laminin EGF-like 7. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGATTACAGCGAAGACCTGTT 0.448000 HNSCC(13;0.011) 46 14 0 0 1 0 0 IGDCC3 9543 broad.mit.edu 37 15 65622907 65622907 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:65622907G>A uc002aos.2 - 9 1986 c.1734C>T c.(1732-1734)tcC>tcT p.S578S IGDCC3_uc002aor.1_5'Flank NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA. 578 Fibronectin type-III 2. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TGAGGTTGTAGGAGGAGACGG 0.667000 118 10 0 0 1 0 0 PPP1R36 145376 broad.mit.edu 37 14 65055950 65055950 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:65055950C>T uc001xhl.1 + 11 1259 c.1163C>T c.(1162-1164)tCa>tTa p.S388L PPP1R36_uc001xhm.1_Missense_Mutation_p.S118L NM_172365 NP_758953 Q96LQ0 CN050_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA. 388 AACACAAAATCATTTGGGAGA 0.433000 37 5 0 0 1 0 0 NOX3 50508 broad.mit.edu 37 6 155750078 155750078 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:155750078G>A uc003qqm.3 - 8 1098 c.995C>T c.(994-996)tCg>tTg p.S332L NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN Homo sapiens NADPH oxidase 3 (NOX3), mRNA. 332 FAD-binding FR-type. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding p.S332L(2) cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CCACTCCAGCGAAGATATGGC 0.577000 67 4 0 0 1 0 0 FAM59A 64762 broad.mit.edu 37 18 29867026 29867026 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:29867026G>A uc002kxl.3 - 3 1590 c.1534C>T c.(1534-1536)Cct>Tct p.P512S FAM59A_uc002kxk.2_Missense_Mutation_p.P512S NM_001242409 NP_001229338 Q9H706 FA59A_HUMAN Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA. 512 Pro-rich. endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 36 GGAGGTGGAGGTAGGGCAGTA 0.493000 55 7 0 0 1 0 0 GPR39 2863 broad.mit.edu 37 2 133402786 133402786 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:133402786G>A uc002ttl.3 + 1 1438 c.969G>A c.(967-969)atG>atA p.M323I LYPD1_uc002ttm.4_3'UTR|LYPD1_uc002ttn.3_3'UTR|LYPD1_uc002tto.3_3'UTR NM_001508 NP_001499 O43194 GPR39_HUMAN Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA. 323 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGGCGTACATGATCCTCCTCC 0.587000 53 6 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22838541 22838541 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:22838541G>A uc001bft.2 + 11 2886 c.2375G>A c.(2374-2376)gGt>gAt p.G792D ZBTB40_uc001bfu.2_Missense_Mutation_p.G792D|ZBTB40_uc009vqi.1_Missense_Mutation_p.G680D|ZBTB40_uc001bfv.1_Missense_Mutation_p.G421D NM_001083621 NP_055685 Q9NUA8 ZBT40_HUMAN Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA. 792 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CATGGTGCAGGTGGAGAGCCC 0.532000 55 4 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38573729 38573729 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:38573729C>T uc002ohk.3 + 2 2033 c.1524C>T c.(1522-1524)ttC>ttT p.F508F NM_015073 NP_055888 O60292 SI1L3_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA. 508 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) AGGATTACTTCGTGGGCAAAG 0.622000 52 6 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49688996 49688996 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:49688996C>T uc003cxe.4 + 4 2121 c.2007C>T c.(2005-2007)taC>taT p.Y669Y NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 669 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCAAGCCTTACTCTCAGGATG 0.582000 63 6 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81214828 81214828 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:81214828G>A uc002fgh.1 - 11 2046 c.2046C>T c.(2044-2046)ctC>ctT p.L682L PKD1L2_uc002fgg.1_Non-coding_Transcript|PKD1L2_uc002fgi.3_5'UTR|PKD1L2_uc002fgj.3_Silent_p.L682L|PKD1L2_uc002fgl.1_5'UTR NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 682 REJ. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding p.L681L(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TGGTGACCCTGAGCAGAATGT 0.532000 73 5 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42609803 42609803 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:42609803G>A uc003bcj.1 - 0 1643 c.1509C>T c.(1507-1509)ggC>ggT p.G503G TCF20_uc003bck.1_Silent_p.G503G NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA. 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GTTGTGAGGAGCCTTCAGAAT 0.512000 236 32 0 0 1 0 0 RNASE1 6035 broad.mit.edu 37 14 21270045 21270045 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:21270045C>T uc021rop.1 - 0 183 c.183G>A c.(181-183)cgG>cgA p.R61R RNASE1_uc001vyf.3_Silent_p.R61R|RNASE1_uc001vyg.3_Silent_p.R61R|RNASE1_uc001vyh.3_Silent_p.R61R|RNASE1_uc001vyi.3_Silent_p.R61R NM_198235 NP_937878 P07998 RNAS1_HUMAN Homo sapiens ribonuclease, RNase A family, 1 (pancreatic) (RNASE1), transcript variant 1, mRNA. 61 extracellular region nucleic acid binding|pancreatic ribonuclease activity|protein binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 5 all_cancers(95;0.00671) all_lung(585;0.235) Epithelial(56;9.21e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0126) GTGTCATATTCCGGCGCCTCA 0.542000 52 13 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115168137 115168137 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:115168137G>A uc001efd.1 - 3 1171 c.469C>T c.(469-471)Ccc>Tcc p.P157S DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.P157S NM_198459 NP_940861 Q68D51 DEN2C_HUMAN Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA. 157 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTATCTGGGGGAAGTGCTTCT 0.368000 30 4 0 0 1 0 0 SREBF2 6721 broad.mit.edu 37 22 42263103 42263103 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:42263103C>T uc003bbi.3 + 1 526 c.357C>T c.(355-357)acC>acT p.T119T bK250D10.C22.8_uc003bba.1_Intron NM_004599 NP_004590 Q12772 SRBP2_HUMAN Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA. 119 Gly/Pro/Ser-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 TTTCTCCCACCTCAGTTCCCA 0.572000 100 20 0 0 1 0 0 YJEFN3 374887 broad.mit.edu 37 19 19646358 19646358 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:19646358C>T uc002nmt.2 + 5 636 c.564C>T c.(562-564)gcC>gcT p.A188A YJEFN3_uc021uqw.1_Silent_p.A187A|YJEFN3_uc010ecf.2_Silent_p.A138A|YJEFN3_uc002nmu.2_Non-coding_Transcript|CILP2_uc002nmv.4_5'Flank|CILP2_uc002nmw.4_5'Flank NM_198537 NP_940939 A6XGL0 YJEN3_HUMAN Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 188 YjeF N-terminal. NS(1)|breast(1)|lung(3) 5 TTAACGAAGCCTATGGGCTGG 0.697000 26 5 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48704023 48704023 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:48704023C>T uc002irk.1 + 37 7417 c.7045C>T c.(7045-7047)Cct>Tct p.P2349S CACNA1G_uc002irj.1_Missense_Mutation_p.P2143S|CACNA1G_uc002irl.1_Missense_Mutation_p.P2233S|CACNA1G_uc002irm.1_Missense_Mutation_p.P2270S|CACNA1G_uc002irn.1_Missense_Mutation_p.P2215S|CACNA1G_uc002iro.1_Missense_Mutation_p.P2222S|CACNA1G_uc002irp.1_Missense_Mutation_p.P2304S|CACNA1G_uc002irq.1_Missense_Mutation_p.P2326S|CACNA1G_uc002irr.1_Missense_Mutation_p.P2256S|CACNA1G_uc002irs.1_Missense_Mutation_p.P2293S|CACNA1G_uc002irt.1_Missense_Mutation_p.P2238S|CACNA1G_uc002iru.1_Missense_Mutation_p.P2315S|CACNA1G_uc002irv.1_Missense_Mutation_p.P2245S|CACNA1G_uc002irw.1_Missense_Mutation_p.P2278S|CACNA1G_uc002irx.1_Missense_Mutation_p.P2090S|CACNA1G_uc002iry.1_Missense_Mutation_p.P2079S|CACNA1G_uc002isg.1_Missense_Mutation_p.P2117S|CACNA1G_uc002ish.1_Missense_Mutation_p.P2124S|CACNA1G_uc002isi.1_Missense_Mutation_p.P2112S|CACNA1G_uc002irz.1_Missense_Mutation_p.P2162S|CACNA1G_uc002isa.1_Missense_Mutation_p.P2135S|CACNA1G_uc002isd.1_Missense_Mutation_p.P2144S|CACNA1G_uc002isb.1_Missense_Mutation_p.P2176S|CACNA1G_uc002isc.1_Missense_Mutation_p.P2251S|CACNA1G_uc002ise.1_Missense_Mutation_p.P2172S|CACNA1G_uc002isf.1_Missense_Mutation_p.P2199S NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 2349 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CTCTGGCCCCCCTGACAGCAT 0.657000 OREG0024569 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 8 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53057934 53057934 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:53057934C>T uc010epq.1 + 4 1942 c.1765C>T c.(1765-1767)Cat>Tat p.H589Y ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN Homo sapiens zinc finger protein 808 (ZNF808), mRNA. 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) TCGTAGACTTCATACTGGAGA 0.368000 78 5 0 0 1 0 0 SLC2A7 155184 broad.mit.edu 37 1 9083006 9083006 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:9083006G>A uc009vmo.1 - 2 282 c.282C>T c.(280-282)ctC>ctT p.L94L NM_207420 NP_997303 Q6PXP3 GTR7_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA. 94 integral to membrane|plasma membrane sugar transmembrane transporter activity NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) GCAGGCCCACGAGCAATGACC 0.537000 149 6 0 0 1 0 0 MBOAT2 129642 broad.mit.edu 37 2 9000758 9000758 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:9000758G>A uc002qzg.1 - 11 1455 c.1322C>T c.(1321-1323)tCa>tTa p.S441L MBOAT2_uc010yix.1_3'UTR NM_138799 NP_620154 Q6ZWT7 MBOA2_HUMAN Homo sapiens membrane bound O-acyltransferase domain containing 2 (MBOAT2), mRNA. 441 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity MBOAT2/PRKCE(2) endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1) 15 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AAACGTGAGTGATGGTTTTAT 0.313000 58 4 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56386398 56386398 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:56386398G>A uc002ivx.4 - 21 5106 c.4235C>T c.(4234-4236)cCt>cTt p.P1412L BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.P1352L|BZRAP1_uc010wnt.2_Missense_Mutation_p.P1412L NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1412 mitochondrion benzodiazepine receptor binding p.P1412A(1) cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGGCTTCTCAGGGGAGCCCCC 0.647000 86 19 0 0 1 0 0 C2orf83 56918 broad.mit.edu 37 2 228476242 228476242 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:228476242G>A uc002vph.3 - 2 556 c.321C>T c.(319-321)gcC>gcT p.A107A C2orf83_uc010zlu.2_3'UTR NM_020161 NP_064546 Q53S99 CB083_HUMAN Homo sapiens chromosome 2 open reading frame 83 (C2orf83), transcript variant 1, mRNA. 107 membrane folic acid binding|reduced folate carrier activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2) 11 AGAGAGTTTCGGCTGAAGCCT 0.547000 97 25 0 0 1 0 0 EEFSEC 60678 broad.mit.edu 37 3 128060436 128060436 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:128060436G>A uc003eki.3 + 4 1185 c.1147G>A c.(1147-1149)Gat>Aat p.D383N NM_021937 NP_068756 P57772 SELB_HUMAN Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA. 383 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 CCTGTCCAAGGATTTGACACC 0.532000 38 5 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12655783 12655783 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:12655783C>T uc002gno.2 + 9 1477 c.1178C>T c.(1177-1179)aCc>aTc p.T393I MYOCD_uc002gnn.2_Missense_Mutation_p.T393I|MYOCD_uc002gnp.1_Missense_Mutation_p.T297I|MYOCD_uc002gnq.2_Missense_Mutation_p.T112I NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 393 SAP. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GTGTCAGGCACCAAAACGGCT 0.478000 45 5 0 0 1 0 0 DYRK1B 9149 broad.mit.edu 37 19 40317395 40317395 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:40317395G>A uc002omj.3 - 8 1608 c.1328C>T c.(1327-1329)cCg>cTg p.P443L DYRK1B_uc002omi.3_Missense_Mutation_p.P415L|DYRK1B_uc002omk.3_Missense_Mutation_p.P403L NM_004714 NP_004705 Q9Y463 DYR1B_HUMAN Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA. 443 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GCTGCCTGCCGGGCCCGTGTT 0.721000 12 3 0 0 1 0 0 GLIS1 148979 broad.mit.edu 37 1 53995570 53995570 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:53995570C>T uc001cvr.1 - 3 1418 c.851G>A c.(850-852)aGg>aAg p.R284K NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA. 284 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 CGTGTGGCTCCTCAGGTGGAT 0.647000 44 13 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23826108 23826108 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:23826108G>A uc003gqs.3 - 5 901 c.781C>T c.(781-783)Cct>Tct p.P261S PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA. 261 RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) GGGGTCAGAGGAAGAGATAAA 0.348000 48 6 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34263248 34263248 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:34263248C>T uc002nus.4 + 4 1060 c.555C>T c.(553-555)ttC>ttT p.F185F CHST8_uc002nut.4_Silent_p.F185F|CHST8_uc002nuu.3_Silent_p.F185F NM_001127895 NP_071912 Q9H2A9 CHST8_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA. 185 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) CCCGTATCTTCGTGGAGGACC 0.706000 43 9 0 0 1 0 0 RASAL3 64926 broad.mit.edu 37 19 15569183 15569183 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:15569183C>T uc002nbe.2 - 7 930 c.844G>A c.(844-846)Gac>Aac p.D282N NM_022904 NP_075055 Q86YV0 RASL3_HUMAN Homo sapiens RAS protein activator like 3 (RASAL3), mRNA. 282 PH. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 ATCCAGCGGTCTCTCTCAGCG 0.632000 15 4 0 0 1 0 0 MAN2A2 4122 broad.mit.edu 37 15 91448685 91448685 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:91448685C>T uc010bnz.2 + 2 452 c.337C>T c.(337-339)Ccg>Tcg p.P113S MAN2A2_uc010boa.3_Missense_Mutation_p.P155S|MAN2A2_uc002bqc.3_Missense_Mutation_p.P113S|MAN2A2_uc010uql.2_5'Flank|MAN2A2_uc010uqm.2_5'Flank NM_006122 NP_006113 P49641 MA2A2_HUMAN Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA. 113 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CTCCATCTCCCCGCAGGACTG 0.657000 205 16 0 0 1 0 0 OR51M1 390059 broad.mit.edu 37 11 5411090 5411090 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:5411090C>T uc010qzc.2 + 0 484 c.462C>T c.(460-462)gtC>gtT p.V154V HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA. 154 integral to membrane olfactory receptor activity p.V154L(1) NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGCAAGTGGTCAGAGCAGGCC 0.547000 163 6 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3224155 3224155 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:3224155C>T uc021xkv.1 + 53 7556 c.7411C>T c.(7411-7413)Ctc>Ttc p.L2471F NM_002111 NP_002102 P42858 HD_HUMAN Homo sapiens huntingtin (HTT), mRNA. 2471 Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TTGGGCCACCCTCCTTGGTGT 0.532000 66 5 0 0 1 0 0 C6orf222 389384 broad.mit.edu 37 6 36298147 36298147 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:36298147G>A uc003oly.3 - 1 499 c.321C>T c.(319-321)ttC>ttT p.F107F NM_001010903 NP_001010903 P0C671 CF222_HUMAN Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA. 107 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 CCGTCCTCACGAAGAAGTTCA 0.632000 69 7 0 0 1 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947582 57947582 + Silent SNP C T T rs139135884 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:57947582C>T uc021qjm.1 + 0 666 c.666C>T c.(664-666)atC>atT p.I222I OR9Q1_uc001nmj.3_Silent_p.I222I NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA. 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) TGTTTATCATCGTGGCCATCA 0.512000 30 8 0 0 1 0 0 OR5M8 219484 broad.mit.edu 37 11 56258333 56258333 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:56258333C>T uc001nix.1 - 0 514 c.514G>A c.(514-516)Gaa>Aaa p.E172K OR8U8_uc001nit.2_Intron NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA. 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) TGATTAATTTCATTGGGGCCA 0.498000 80 11 0 0 1 0 0 NCR2 9436 broad.mit.edu 37 6 41318520 41318520 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:41318520C>T uc003oqh.2 + 4 836 c.749C>T c.(748-750)tCc>tTc p.S250F NCR2_uc003oqj.2_3'UTR|NCR2_uc003oqi.2_3'UTR NM_004828 NP_004819 O95944 NCTR2_HUMAN Homo sapiens natural cytotoxicity triggering receptor 2 (NCR2), transcript variant 1, mRNA. 250 cellular defense response integral to plasma membrane transmembrane receptor activity p.V249V(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) acctcagtttcctcacctgta 0.433000 19 4 0 0 1 0 0 IQGAP1 8826 broad.mit.edu 37 15 91034751 91034751 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:91034751C>T uc002bpl.1 + 33 4536 c.4435C>T c.(4435-4437)Cag>Tag p.Q1479* IQGAP1_uc010uqg.1_Nonsense_Mutation_p.Q100* NM_003870 NP_003861 P46940 IQGA1_HUMAN Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA. 1479 C2. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) GAACAAATACCAGGAACTGAT 0.502000 43 5 0 0 1 0 0 ARSF 416 broad.mit.edu 37 X 3021832 3021832 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:3021832G>A uc022brz.1 + 8 1268 c.1132G>A c.(1132-1134)Gga>Aga p.G378R ARSF_uc004cre.2_Missense_Mutation_p.G378R|ARSF_uc004crf.2_Missense_Mutation_p.G378R NM_001201538 NP_001188467 P54793 ARSF_HUMAN Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA. 378 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTGGGAAGGTGGAATCCGCGT 0.423000 11 9 0 0 1 0 0 C10orf81 79949 broad.mit.edu 37 10 115531816 115531816 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:115531816C>T uc001lat.2 + 6 1184 c.622C>T c.(622-624)Cat>Tat p.H208Y C10orf81_uc009xyc.2_Missense_Mutation_p.H126Y|C10orf81_uc001lar.2_Missense_Mutation_p.H214Y|C10orf81_uc001las.2_Missense_Mutation_p.H126Y|C10orf81_uc001lau.2_Missense_Mutation_p.H28Y NM_182601 NP_872407 Q5SXH7 CJ081_HUMAN Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA. 208 central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2) 15 Colorectal(252;0.175) Epithelial(162;0.0181)|all cancers(201;0.0204) GGAAGAGAATCATTATCTTAC 0.373000 31 4 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237813268 237813268 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:237813268T>G uc001hyl.1 + 49 7724 c.7604T>G c.(7603-7605)tTt>tGt p.F2535C NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 2535 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.A2534S(1)|p.A2534V(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCTCCTCTCTTTGCTGGCACA 0.483000 97 17 0 0 1 0 0 RAB37 326624 broad.mit.edu 37 17 72738419 72738419 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:72738419G>A uc010wrc.2 + 2 436 c.246G>A c.(244-246)gtG>gtA p.V82V RAB37_uc002jlc.2_Silent_p.V70V|RAB37_uc002jld.2_Silent_p.V70V|RAB37_uc010dfu.3_Silent_p.V70V|RAB37_uc010wrb.2_Silent_p.V45V|RAB37_uc002jlk.3_Silent_p.V77V|RAB37_uc010wre.2_Silent_p.V40V NM_001163989 NP_001157461 Q96AX2 RAB37_HUMAN Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 4, mRNA. 77 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 12 TGGATGGCGTGAGAGTGAAGC 0.587000 22 4 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7671347 7671347 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:7671347C>T uc002giu.1 + 21 3819 c.3805C>T c.(3805-3807)Cgt>Tgt p.R1269C NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 1269 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CGGGCTGTTTCGTCGCCTCAC 0.582000 50 4 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5039181 5039181 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:5039181G>A uc002gau.1 + 16 2852 c.622G>A c.(622-624)Gca>Aca p.A208T USP6_uc002gav.1_Missense_Mutation_p.A208T|USP6_uc010ckz.1_5'UTR|DQ575687_uc021toi.1_5'Flank|DQ570124_uc002gba.3_5'Flank|DQ576627_uc002gbb.3_5'Flank|DQ584383_uc021toj.1_5'Flank|DQ574802_uc021tok.1_5'Flank NM_004505 NP_004496 P35125 UBP6_HUMAN Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA. 208 Rab-GAP TBC. protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CGCATTCTGGGCACTGGTGCA 0.627000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 63 8 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66190147 66190147 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:66190147C>T uc001ohx.1 + 3 609 c.433C>T c.(433-435)Cgc>Tgc p.R145C NPAS4_uc010rpc.1_5'UTR NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA. 145 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CTATCTAGATCGCCTCTTCCG 0.552000 31 5 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107811878 107811878 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:107811878G>A uc022ccg.1 + 4 498 c.296G>A c.(295-297)gGa>gAa p.G99E COL4A5_uc004enz.1_Missense_Mutation_p.G99E NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 99 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GGACTTCCTGGATTTCCAGGG 0.323000 Alport syndrome with Diffuse Leiomyomatosis 19 6 0 0 1 0 0 PKLR 5313 broad.mit.edu 37 1 155264116 155264116 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:155264116G>A uc001fkb.4 - 6 1065 c.1026C>T c.(1024-1026)atC>atT p.I342I PKLR_uc001fka.4_Silent_p.I311I NM_000298 NP_000289 P30613 KPYR_HUMAN Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 342 I -> F (in PKRD). endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) CTGGGATCTCGATGCCTAGGT 0.572000 26 4 0 0 1 0 0 OVOL1 5017 broad.mit.edu 37 11 65562600 65562600 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:65562600G>A uc001ofp.3 + 3 932 c.592G>A c.(592-594)Ggt>Agt p.G198S OVOL1_uc001ofq.3_Missense_Mutation_p.G136S NM_004561 NP_004552 O14753 OVOL1_HUMAN Homo sapiens ovo-like 1(Drosophila) (OVOL1), mRNA. 198 transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 6 READ - Rectum adenocarcinoma(159;0.17) GAAGATCCATGGTGTGCAGCA 0.622000 42 6 0 0 1 0 0 HYAL4 23553 broad.mit.edu 37 7 123509211 123509211 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:123509211A>T uc003vlc.3 + 2 1522 c.884A>T c.(883-885)gAt>gTt p.D295V HYAL4_uc011knz.2_Missense_Mutation_p.D295V NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA. 295 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 ACATCTCATGATTATGCTCTG 0.438000 32 4 0 0 1 0 0 ACTN3 89 broad.mit.edu 37 11 66330650 66330650 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:66330650G>A uc021qma.1 + 10 1459 c.946G>A c.(946-948)Gag>Aag p.E316K ACTN3_uc021qlz.1_Non-coding_Transcript Q08043 ACTN3_HUMAN Homo sapiens actinin, alpha 3 (ACTN3), mRNA. 898 focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 CCTCTATGGGGAGAGCGACCT 0.622000 40 11 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61441559 61441559 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:61441559G>A uc002sbe.3 - 67 8340 c.8318C>T c.(8317-8319)tCc>tTc p.S2773F NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA. 2773 Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) GAAATATGTGGAAAACATCAG 0.373000 35 4 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219561300 219561300 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:219561300C>T uc002viu.3 + 21 2841 c.2562C>T c.(2560-2562)atC>atT p.I854I STK36_uc002viv.3_Intron|STK36_uc002vix.3_5'UTR NM_015690 NP_056505 Q9NRP7 STK36_HUMAN Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA. 854 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GCCTCCTTATCCTTCTGTTGC 0.507000 121 6 0 0 1 0 0 SLC39A1 27173 broad.mit.edu 37 1 153932653 153932653 + Missense_Mutation SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:153932653G>T uc001fdl.3 - 4 1362 c.896C>A c.(895-897)tCt>tAt p.S299Y CRTC2_uc021pab.1_5'Flank|SLC39A1_uc001fdi.3_Missense_Mutation_p.S299Y|SLC39A1_uc001fdj.3_Missense_Mutation_p.S299Y|SLC39A1_uc001fdk.3_Missense_Mutation_p.S299Y|SLC39A1_uc010pee.2_Missense_Mutation_p.S197Y NM_014437 NP_055252 Q9NY26 S39A1_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 1 (SLC39A1), mRNA. 299 endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane zinc ion transmembrane transporter activity kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1) 12 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Colorectal(1306;0.019) CCTTTGCTCAGAACTGGCCAG 0.567000 84 23 3.5997e-14 3.65282e-14 1 1 0 TSPY2 64591 broad.mit.edu 37 Y 6114350 6114350 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrY:6114350G>A uc004fqr.1 + 0 87 c.41G>A c.(40-42)aGg>aAg p.R14K TTTY23_uc004fqq.1_5'Flank|TSPY2_uc004fqs.1_Missense_Mutation_p.R14K NM_022573 NP_072095 A6NKD2 TSPY2_HUMAN Homo sapiens testis specific protein, Y-linked 2 (TSPY2), mRNA. 14 cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis cytoplasm|nucleus liver(1)|lung(4)|prostate(1)|skin(1) 7 GTGCCAGAGAGGCTGCGGCAG 0.716000 30 7 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99697791 99697791 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:99697791G>A uc001yga.3 - 2 798 c.531C>T c.(529-531)ctC>ctT p.L177L BCL11B_uc001ygb.3_Intron NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA. 177 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GGCAGGGCGGGAGAGCGCCCA 0.701000 T TLX3 T-ALL 16 5 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140207695 140207695 + Missense_Mutation SNP G A A rs17844300 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140207695G>A uc003lho.2 + 0 46 c.19G>A c.(19-21)Gat>Aat p.D7N PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.D7N|PCDHAC2_uc011dab.2_Missense_Mutation_p.D7N NM_018909 NP_061732 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA. 0 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACCCCGGAGGATAGATTGGG 0.488000 112 16 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37535634 37535634 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:37535634G>A uc002xje.3 + 7 1024 c.835G>A c.(835-837)Gag>Aag p.E279K PPP1R16B_uc010ggc.3_Missense_Mutation_p.E237K NM_015568 NP_056383 Q96T49 PP16B_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA. 279 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) GCAGATGGCAGAGCTATTGGT 0.522000 182 11 0 0 1 0 0 OSBPL7 114881 broad.mit.edu 37 17 45895749 45895749 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:45895749G>A uc002ilx.1 - 6 687 c.484C>T c.(484-486)Cct>Tct p.P162S OSBPL7_uc002ilw.1_5'Flank NM_145798 NP_665741 Q9BZF2 OSBL7_HUMAN Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA. 162 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 TGGGCACCAGGAACCTGTGGG 0.607000 86 8 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8216545 8216545 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:8216545C>T uc002glc.3 + 2 1062 c.907C>T c.(907-909)Ctg>Ttg p.L303L ARHGEF15_uc002glb.2_3'UTR|ARHGEF15_uc002gld.3_Silent_p.L303L|ARHGEF15_uc010vuw.2_Intron NM_173728 NP_776089 O94989 ARHGF_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA. 303 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 AGATCTTGATCTGCTTTCTGA 0.592000 30 5 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10432220 10432220 + Silent SNP G A A rs148640299 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:10432220G>A uc010coi.3 - 26 3659 c.3531C>T c.(3529-3531)ttC>ttT p.F1177F AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.F1177F|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1177 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCATTTTCTGGAACTCAGCCT 0.607000 87 8 0 0 1 0 0 WNT9A 7483 broad.mit.edu 37 1 228112043 228112043 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:228112043C>T uc001hri.2 - 2 499 c.411G>A c.(409-411)ctG>ctA p.L137L NM_003395 NP_003386 O14904 WNT9A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA. 137 Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) ACGCCTTGGCCAGTGCGTGCG 0.677000 60 10 0 0 1 0 0 ZNF488 118738 broad.mit.edu 37 10 48371143 48371143 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:48371143G>A uc001jex.3 + 1 773 c.611G>A c.(610-612)tGg>tAg p.W204* ZNF488_uc021ppx.1_Nonsense_Mutation_p.W204* NM_153034 NP_694579 Q96MN9 ZN488_HUMAN Homo sapiens zinc finger protein 488 (ZNF488), mRNA. 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 CTCGCTTGTTGGGGTCGACTT 0.542000 89 14 0 0 1 0 0 SPAG11B 10407 broad.mit.edu 37 8 7717892 7717892 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:7717892C>T uc003wry.3 + 2 405 c.370C>T c.(370-372)Cga>Tga p.R124* SPAG11B_uc003wrx.3_Intron|SPAG11B_uc003wrz.3_Intron|SPAG11B_uc003wsa.3_Intron|SPAG11B_uc003wsb.3_Intron Q08648 SG11B_HUMAN Homo sapiens sperm associated antigen 11A (SPAG11A), mRNA. 80 spermatogenesis extracellular region large_intestine(2)|lung(3)|urinary_tract(1) 6 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) CCAGGAGGCTCGAGGACCCTC 0.473000 49 7 0 0 1 0 0 ART5 116969 broad.mit.edu 37 11 3661130 3661130 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:3661130G>A uc001lyb.1 - 1 922 c.529C>T c.(529-531)Cgc>Tgc p.R177C ART5_uc001lyc.1_Missense_Mutation_p.R177C|ART5_uc001lyd.3_Missense_Mutation_p.R177C|ART5_uc009yea.3_Missense_Mutation_p.R177C NM_053017 NP_443750 Q96L15 NAR5_HUMAN Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA. 177 extracellular region NAD(P)+-protein-arginine ADP-ribosyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1) 11 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGCCCAAGCGGACAGAGTCT 0.607000 51 4 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70505260 70505260 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:70505260C>T uc001dep.3 + 18 3669 c.3639C>T c.(3637-3639)tcC>tcT p.S1213S LRRC7_uc009wbg.3_Silent_p.S497S|LRRC7_uc001deq.3_Silent_p.S454S NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA. 1213 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 ACGGTGCCTCCCAAACCAGGC 0.463000 18 5 0 0 1 0 0 CD84 8832 broad.mit.edu 37 1 160535240 160535240 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:160535240C>T uc001fwh.4 - 1 421 c.342G>A c.(340-342)caG>caA p.Q114Q CD84_uc001fwf.4_Silent_p.Q114Q|CD84_uc009wtn.3_Silent_p.Q114Q|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Silent_p.Q114Q|CD84_uc001fwj.3_Silent_p.Q114Q|CD84_uc001fwk.3_Silent_p.Q114Q NM_001184879 NP_001171808 Q9UIB8 SLAF5_HUMAN Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA. 114 blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) AGGGATCAGCCTGTGTATTTA 0.443000 30 5 0 0 1 0 0 LMOD1 25802 broad.mit.edu 37 1 201915304 201915304 + Silent SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:201915304C>A uc021phl.1 - 0 413 c.165G>T c.(163-165)acG>acT p.T55T LMOD1_uc021phm.1_Silent_p.T55T|LMOD1_uc010ppu.2_Silent_p.T55T NM_012134 NP_036266 P29536 LMOD1_HUMAN Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA. 55 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 ACTGTTTCTCCGTCTGGTTTC 0.572000 75 13 4.36969e-10 4.43159e-10 1 1 0 TST 7263 broad.mit.edu 37 22 37407153 37407153 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:37407153G>A uc003aqg.3 - 1 1504 c.809C>T c.(808-810)gCc>gTc p.A270V TST_uc003aqh.3_Missense_Mutation_p.A270V NM_003312 NP_003303 Q16762 THTR_HUMAN Homo sapiens thiosulfate sulfurtransferase (rhodanese) (TST), nuclear gene encoding mitochondrial protein, mRNA. 270 Rhodanese 2. cyanate catabolic process|rRNA transport mitochondrial matrix|plasma membrane 5S rRNA binding|thiosulfate sulfurtransferase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 7 ATCGTACACGGCCACATCAGG 0.642000 43 11 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27455332 27455332 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:27455332C>T uc002rji.3 + 17 2824 c.2662C>T c.(2662-2664)Cgc>Tgc p.R888C CAD_uc010eyw.3_Missense_Mutation_p.R825C NM_004341 NP_004332 P27708 PYR1_HUMAN Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA. 888 CPSase (Carbamoyl-phosphate synthase).|CPSase A. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GCTGGCTGTTCGCAAGCTGCG 0.507000 35 25 0 0 1 0 0 CD99L2 83692 broad.mit.edu 37 X 149937520 149937520 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:149937520G>A uc004fek.3 - 11 1034 c.806C>T c.(805-807)cCa>cTa p.P269L CD99L2_uc011myb.2_Missense_Mutation_p.P186L|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_Missense_Mutation_p.P259L|CD99L2_uc004fem.3_Missense_Mutation_p.P210L|CD99L2_uc004fen.3_Missense_Mutation_p.P187L NM_001242614 NP_001229543 Q8TCZ2 C99L2_HUMAN Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA. 259 cell adhesion cell junction|integral to membrane p.P259Q(1) endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GATCCGGGCTGGTTCGGGCGG 0.622000 61 20 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66191868 66191869 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:66191868_66191869CC>TT uc001ohx.1 + 6 1683_1684 c.1507_1508CC>TT c.(1507-1509)ccc>TTc p.P503F NPAS4_uc010rpc.1_Missense_Mutation_p.P293F NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA. 503 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CCAGTTGACTCCCTGCACCTCC 0.589000 190 32 0 0 1 0 0 CD1C 911 broad.mit.edu 37 1 158261127 158261127 + Missense_Mutation SNP C T T rs145638725 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:158261127C>T uc001fru.3 + 1 557 c.265C>T c.(265-267)Cgt>Tgt p.R89C CD1C_uc021pbl.1_5'Flank NM_001765 NP_001756 P29017 CD1C_HUMAN Homo sapiens CD1c molecule (CD1C), mRNA. 89 T cell activation involved in immune response|antigen processing and presentation endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding p.R89C(2) NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) GTTGTTATTTCGTTTCTACCT 0.398000 31 11 0 0 1 0 0 GCM2 9247 broad.mit.edu 37 6 10875068 10875068 + Silent SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:10875068A>T uc003mzn.4 - 4 753 c.681T>A c.(679-681)atT>atA p.I227I SYCP2L_uc011dim.1_Intron NM_004752 NP_004743 O75603 GCM2_HUMAN Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA. 227 I -> V (in dbSNP:rs35395043). cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) GCTGCCCTGGAATAGGGAAGC 0.453000 49 9 0 0 1 0 0 GPC1 2817 broad.mit.edu 37 2 241402767 241402767 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:241402767C>T uc002vyw.4 + 3 942 c.721C>T c.(721-723)Ccc>Tcc p.P241S NM_002081 NP_002072 P35052 GPC1_HUMAN Homo sapiens glypican 1 (GPC1), mRNA. 241 axon guidance anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 9 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949) TCCCCAGGTCCCCCTGGGCCC 0.697000 112 21 0 0 1 0 0 AP3D1 8943 broad.mit.edu 37 19 2120980 2120980 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:2120980G>A uc002lva.3 - 13 1585 c.1362C>T c.(1360-1362)ttC>ttT p.F454F AP3D1_uc002luy.3_Silent_p.F363F|AP3D1_uc002luz.3_Silent_p.F454F NM_003938 NP_003929 O14617 AP3D1_HUMAN Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA. 454 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport Golgi membrane|endosome membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGACACGGCGAACTTGCGGA 0.662000 54 14 0 0 1 0 0 PDE4C 5143 broad.mit.edu 37 19 18321934 18321934 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:18321934G>A uc010xqc.2 - 14 2424 c.1944C>T c.(1942-1944)ccC>ccT p.P648P PDE4C_uc002nik.4_Silent_p.P648P|PDE4C_uc002nil.4_Silent_p.P648P|PDE4C_uc002nig.4_Silent_p.P363P|PDE4C_uc002nih.4_Silent_p.P418P|PDE4C_uc010ebk.3_Silent_p.P542P|PDE4C_uc002nii.4_Silent_p.P616P|PDE4C_uc002nif.4_Silent_p.P417P|PDE4C_uc010ebl.3_Silent_p.P362P NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA. 648 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding p.P648P(2) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) CGTCCCGCTCGGGGTTGGTGA 0.582000 99 11 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100239237 100239237 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:100239237C>T uc003hus.4 - 2 309 c.225G>A c.(223-225)gaG>gaA p.E75E ADH1B_uc003hut.4_Silent_p.E35E|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_Silent_p.E35E NM_000668 NP_000659 P00325 ADH1B_HUMAN Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA. 75 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding p.V74M(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) CTCCAACACTCTCCACGATGC 0.537000 47 5 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118223491 118223491 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:118223491C>T uc004era.4 - 10 1702 c.1702G>A c.(1702-1704)Gat>Aat p.D568N NM_020721 NP_065772 Q9ULL0 K1210_HUMAN Homo sapiens KIAA1210 (KIAA1210), mRNA. 568 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CCAGCTCTATCGCCCAGGCCA 0.468000 28 4 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234851302 234851302 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:234851302G>A uc002vvh.3 + 5 649 c.609G>A c.(607-609)agG>agA p.R203R TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Silent_p.R153R|TRPM8_uc002vvj.3_Silent_p.R126R NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA. 203 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CCATCAGCAGGAGTTCAGAGG 0.532000 115 7 0 0 1 0 0 LRPPRC 10128 broad.mit.edu 37 2 44152287 44152287 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:44152287G>A uc002rtr.2 - 26 2873 c.2815C>T c.(2815-2817)Ctg>Ttg p.L939L LRPPRC_uc010yob.1_Silent_p.L839L NM_133259 NP_573566 P42704 LPPRC_HUMAN Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA. 939 mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm RNA binding|beta-tubulin binding|microtubule binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AATTTTTCCAGAGTTTCAACC 0.318000 248 16 0 0 1 0 0 FAM82A1 151393 broad.mit.edu 37 2 38208450 38208450 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:38208450T>A uc002rqn.2 + 4 1415 c.1289T>A c.(1288-1290)aTt>aAt p.I430N FAM82A1_uc002rqk.1_Missense_Mutation_p.I107N|FAM82A1_uc002rql.3_Missense_Mutation_p.I252N|FAM82A1_uc021vga.1_Missense_Mutation_p.I252N|FAM82A1_uc002rqm.3_Missense_Mutation_p.I107N NM_144713 NP_653314 Q96LZ7 RMD2_HUMAN Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA. 252 cytoplasm|integral to membrane|microtubule|spindle pole binding endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 13 GAAAGAGCTATTAATAGAGCA 0.328000 62 25 0 0 1 0 0 CECR1 51816 broad.mit.edu 37 22 17662831 17662831 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:17662831C>T uc002zmk.1 - 7 1533 c.1321G>A c.(1321-1323)Gat>Aat p.D441N CECR1_uc010gqu.1_Missense_Mutation_p.D441N|CECR1_uc011agi.1_Missense_Mutation_p.D399N|CECR1_uc002zmj.1_Missense_Mutation_p.D200N NM_017424 NP_059120 Q9NZK5 CECR1_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA. 441 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process Golgi apparatus|extracellular space adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) GCTGGGTCATCAGAGCTGATC 0.537000 49 4 0 0 1 0 0 EPS8L3 79574 broad.mit.edu 37 1 110294772 110294772 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:110294772C>T uc001dyr.2 - 14 1504 c.1279G>A c.(1279-1281)Gag>Aag p.E427K EPS8L3_uc001dys.2_Intron|EPS8L3_uc001dyq.2_Missense_Mutation_p.E428K|EPS8L3_uc009wfm.2_Intron|EPS8L3_uc009wfn.2_Intron NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA. 427 cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) TGTGTCTTCTCCTGAGGAAAG 0.552000 194 39 0 0 1 0 0 CHRNA6 8973 broad.mit.edu 37 8 42611856 42611856 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:42611856G>A uc003xpj.3 - 4 842 c.486C>T c.(484-486)atC>atT p.I162I CHRNA6_uc011lcw.2_Silent_p.I147I NM_004198 NP_004189 Q15825 ACHA6_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA. 162 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) GGAAAAAGGTGATATCCATAG 0.378000 75 5 0 0 1 0 0 SSX1 6756 broad.mit.edu 37 X 48125808 48125808 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:48125808G>A uc004djb.1 + 6 644 c.553G>A c.(553-555)Gaa>Aaa p.E185K NM_005635 NP_005626 Q16384 SSX1_HUMAN Homo sapiens synovial sarcoma, X breakpoint 1 (SSX1), mRNA. 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|transcription corepressor activity SS18/SSX1(1169)|SS18L1/SSX1(2) endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 TGACCCTGAGGAAGATGACGA 0.493000 T SS18 synovial sarcoma 66 15 0 0 1 0 0 ARHGEF16 27237 broad.mit.edu 37 1 3397100 3397100 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:3397100G>A uc001akg.4 + 14 2327 c.2079G>A c.(2077-2079)gtG>gtA p.V693V ARHGEF16_uc001aki.3_Silent_p.V405V|ARHGEF16_uc001akj.3_Silent_p.V405V|ARHGEF16_uc010nzh.2_Silent_p.V397V NM_014448 NP_055263 Q5VV41 ARHGG_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA. 693 activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GTGTGGCCGTGGAGGGCAATG 0.662000 48 6 0 0 1 0 0 CDCA8 55143 broad.mit.edu 37 1 38172709 38172709 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:38172709G>A uc001cbr.3 + 9 878 c.771G>A c.(769-771)gaG>gaA p.E257E CDCA8_uc001cbs.3_Silent_p.E257E NM_018101 NP_060571 Q53HL2 BOREA_HUMAN Homo sapiens cell division cycle associated 8 (CDCA8), mRNA. 257 cell division|chromosome organization|mitotic metaphase|mitotic prometaphase chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGGATCCAGAGGCCTTGGGAA 0.483000 123 38 0 0 1 0 0 RTN1 6252 broad.mit.edu 37 14 60194231 60194231 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:60194231C>T uc001xen.1 - 2 1380 c.1171G>A c.(1171-1173)Gga>Aga p.G391R RTN1_uc001xem.1_5'UTR NM_021136 NP_066959 Q16799 RTN1_HUMAN Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA. 391 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GTTGGCGGTCCGGACCTGGCC 0.672000 13 3 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169528509 169528509 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:169528509C>T uc001ggg.1 - 4 757 c.612G>A c.(610-612)caG>caA p.Q204Q F5_uc010plr.1_Non-coding_Transcript NM_000130 NP_000121 P12259 FA5_HUMAN Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA. 204 F5/8 type A 1.|Plastocyanin-like 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CAAACGTCTTCTGTGTCCCAC 0.443000 16 3 0 0 1 0 0 TLR2 7097 broad.mit.edu 37 4 154624181 154624181 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:154624181G>A uc003inq.3 + 2 341 c.122G>A c.(121-123)gGa>gAa p.G41E TLR2_uc003inr.3_Missense_Mutation_p.G41E|TLR2_uc003ins.3_Missense_Mutation_p.G41E|TLR2_uc021xtl.1_Missense_Mutation_p.G41E NM_003264 NP_003255 O60603 TLR2_HUMAN Homo sapiens toll-like receptor 2 (TLR2), mRNA. 41 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) GGCAGCTCAGGATCTTTAAAC 0.502000 29 4 0 0 1 0 0 LOC728989 728989 broad.mit.edu 37 1 146495670 146495670 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:146495670T>C uc001epd.2 - 2 336 c.262A>G c.(262-264)Aga>Gga p.R88G Homo sapiens phosphodiesterase 4D interacting protein pseudogene (LOC728989), non-coding RNA. ATCTGCTGTCTTAGGGCACTG 0.547000 33 3 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 4118550 4118550 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:4118550C>T uc003zhx.1 - 3 1641 c.928G>A c.(928-930)Gat>Aat p.D310N GLIS3_uc003zic.1_Missense_Mutation_p.D310N|GLIS3_uc003zie.1_Missense_Mutation_p.D310N|GLIS3_uc010mhh.1_Missense_Mutation_p.D185N|GLIS3_uc003zid.1_Missense_Mutation_p.D88N|GLIS3_uc010mhi.1_Missense_Mutation_p.D117N|GLIS3_uc003zif.1_Missense_Mutation_p.D88N|GLIS3_uc003zih.1_Missense_Mutation_p.D88N|GLIS3_uc003zig.1_Missense_Mutation_p.D154N|GLIS3_uc003zhw.1_Missense_Mutation_p.D155N|GLIS3_uc003zhy.1_Missense_Mutation_p.D88N|GLIS3_uc003zhz.1_Missense_Mutation_p.D88N|GLIS3_uc003zib.1_Missense_Mutation_p.D154N|GLIS3_uc010mhg.1_Missense_Mutation_p.D88N NM_001042413 NP_001035878 Q8NEA6 GLIS3_HUMAN Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA. 155 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) CCGATGCCATCGGACAGCGGG 0.612000 86 5 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57485864 57485864 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:57485864C>T uc002xzw.3 + 12 3379 c.3094C>T c.(3094-3096)Cgt>Tgt p.R1032C GNAS_uc021wfl.1_3'UTR|GNAS_uc002xzt.3_Missense_Mutation_p.R357C|GNAS_uc010gjq.3_Missense_Mutation_p.R330C|GNAS_uc002xzx.3_Missense_Mutation_p.R330C|GNAS_uc021wfn.1_Missense_Mutation_p.R389C|GNAS_uc021wfo.1_Missense_Mutation_p.R390C|GNAS_uc002yaa.3_Missense_Mutation_p.R374C|GNAS_uc021wfp.1_Missense_Mutation_p.R375C|GNAS_uc002yad.3_Missense_Mutation_p.R280C|GNAS_uc002yae.3_Missense_Mutation_p.R314C NM_080425 NP_001070958 P63092 GNAS2_HUMAN Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA. 389 G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.R389C(1)|p.R1032C(1) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CATGCACCTTCGTCAGTACGA 0.458000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 66 7 0 0 1 0 0 ASPHD1 253982 broad.mit.edu 37 16 29913002 29913002 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:29913002C>T uc002dut.3 + 0 856 c.710C>T c.(709-711)cCg>cTg p.P237L BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript NM_181718 NP_859069 Q5U4P2 ASPH1_HUMAN Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA. 237 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 ACTACCCCTCCGCCTCGGGGC 0.697000 65 7 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100082951 100082951 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:100082951G>A uc003uvd.1 + 1 176 c.17G>A c.(16-18)cGa>cAa p.R6Q NYAP1_uc003uve.1_5'Flank NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA. 6 CTCCTCTACCGAAAAACCAAG 0.672000 10 3 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22696803 22696803 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:22696803C>T uc002yld.2 + 5 969 c.720C>T c.(718-720)ccC>ccT p.P240P NCAM2_uc011acb.2_Silent_p.P98P|NCAM2_uc011acc.2_Silent_p.P265P NM_004540 NP_004531 O15394 NCAM2_HUMAN Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA. 240 Ig-like C2-type 3. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) CTCCAGAACCCGCCATCTCCT 0.493000 18 3 0 0 1 0 0 GJA5 2702 broad.mit.edu 37 1 147230637 147230637 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:147230637C>T uc021ovl.1 - 0 710 c.710G>A c.(709-711)cGa>cAa p.R237Q GJA5_uc001eps.1_Missense_Mutation_p.R237Q|GJA5_uc001ept.1_Missense_Mutation_p.R237Q NM_181703 NP_859054 P36382 CXA5_HUMAN Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA. 237 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane p.R237*(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) TTTGACAAATCGCTGTCTGAT 0.547000 42 5 0 0 1 0 0 UCP2 7351 broad.mit.edu 37 11 73687968 73687968 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:73687968G>A uc001oup.1 - 4 812 c.432C>T c.(430-432)ttC>ttT p.F144F NM_003355 NP_003346 P55851 UCP2_HUMAN Homo sapiens uncoupling protein 2 (mitochondrial, proton carrier) (UCP2), nuclear gene encoding mitochondrial protein, mRNA. 144 proton transport|respiratory electron transport chain integral to membrane|mitochondrial inner membrane binding large_intestine(1)|lung(3)|prostate(1) 5 Breast(11;0.000112) CCTGAGCTTGGAATCGGACCT 0.627000 114 8 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27455482 27455482 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:27455482C>T uc002rji.3 + 17 2974 c.2812C>T c.(2812-2814)Ctt>Ttt p.L938F CAD_uc010eyw.3_Missense_Mutation_p.L875F NM_004341 NP_004332 P27708 PYR1_HUMAN Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA. 938 CPSase (Carbamoyl-phosphate synthase).|CPSase B. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) TGTCCTAGTCCTTGGCTCTGG 0.512000 83 8 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157926661 157926661 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:157926661C>T uc003wno.3 - 8 1385 c.1264G>A c.(1264-1266)Gac>Aac p.D422N PTPRN2_uc003wnp.3_Missense_Mutation_p.D405N|PTPRN2_uc003wnq.3_Missense_Mutation_p.D422N|PTPRN2_uc003wnr.3_Missense_Mutation_p.D384N|PTPRN2_uc011kwa.2_Missense_Mutation_p.D445N NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 422 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CTCTCCATGTCGAGGGGCCTT 0.587000 65 12 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59157987 59157987 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:59157987C>T uc010dps.1 + 0 353 c.201C>T c.(199-201)ttC>ttT p.F67F CDH20_uc002lif.2_Silent_p.F61F NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN Homo sapiens cadherin 20, type 2 (CDH20), mRNA. 67 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.F67F(2) breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) ACCAGTTTTTCGTTCTGGAAG 0.478000 61 17 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50407222 50407222 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:50407222G>A uc002xwh.4 - 1 1901 c.1800C>T c.(1798-1800)ggC>ggT p.G600G SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA. 600 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AAAAGGCTCGGCCACAGATCT 0.517000 57 4 0 0 1 0 0 AV4S1 0 broad.mit.edu 37 14 22981873 22981873 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:22981873G>A uc021rpv.1 + 2 354 c.319G>A c.(319-321)Gac>Aac p.D107N TCRA_uc001wbw.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TCRA_uc001wdv.4_Intron|TCRA_uc001wec.3_Intron|TCRA_uc001wee.4_Intron|TCRA_uc010tmt.1_Intron|TCRA_uc010ajv.1_Intron|TCRA_uc001weg.2_Intron|TCRA_uc001weh.1_Intron|TCRA_uc001wei.3_Intron|TCRA_uc001wej.3_Intron|TCRA_uc001wek.3_Intron|TCRA_uc001wel.3_Intron|TCRA_uc001wem.4_Intron|TCRA_uc001wen.2_Intron|TCRA_uc001weo.2_Intron|TCRA_uc001wep.3_Intron|TCRA_uc001weq.3_Intron|TCRA_uc021rqa.1_Intron|TCRA_uc021rqb.1_Intron|TCRA_uc001wet.3_Intron|TCRA_uc001weu.3_Intron|TCRA_uc001wev.3_Intron|TCRA_uc010tmv.2_Intron|TCRA_uc001wez.2_Intron|TCRA_uc010ajx.1_Intron|TCRA_uc001wfb.2_Intron|TCRA_uc021rqh.1_Intron|TCRA_uc001wfd.1_Intron|TCRA_uc001wfe.3_Intron|TCRA_uc001wfg.2_Intron|TCRA_uc001wfh.1_Intron|TCRA_uc001wfi.2_Non-coding_Transcript|TCRA_uc001wfj.1_5'Flank|TCRA_uc001wfk.3_5'Flank|TCRA_uc001wfl.3_5'Flank|TCRA_uc010ajy.2_5'Flank Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 320. AAAGGGACACGACTTCATATT 0.408000 12 4 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36779345 36779345 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:36779345C>T uc003cgi.2 - 1 1297 c.806G>A c.(805-807)aGg>aAg p.R269K NM_033403 NP_208382 Q9C098 DCLK3_HUMAN Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA. 269 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 ATGTTTGCTCCTGCTCATGGG 0.587000 82 5 0 0 1 0 0 IL17F 112744 broad.mit.edu 37 6 52103617 52103617 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:52103617C>T uc003pam.1 - 1 236 c.165G>A c.(163-165)atG>atA p.M55I IL17F_uc003pal.1_Missense_Mutation_p.M1I NM_052872 NP_443104 Q96PD4 IL17F_HUMAN Homo sapiens interleukin 17F (IL17F), mRNA. 55 cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|cytokine binding|protein homodimerization activity NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1) 14 Lung NSC(77;0.116) TGTCAAGCTTCATACTACCTC 0.502000 44 5 0 0 1 0 0 FCHSD2 9873 broad.mit.edu 37 11 72551959 72551959 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:72551959C>T uc009ytl.3 - 18 2323 c.2102G>A c.(2101-2103)aGg>aAg p.R701K FCHSD2_uc010rrg.2_Missense_Mutation_p.R565K|FCHSD2_uc001oth.4_Missense_Mutation_p.R645K|ATG16L2_uc009ytj.2_Intron NM_014824 NP_055639 O94868 FCSD2_HUMAN Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA. 701 protein binding endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1) 22 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) AGGAGTATGCCTTGATGCCTG 0.408000 315 20 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22592148 22592148 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:22592148C>T uc001wdd.2 + 1 380 c.233C>T c.(232-234)tCt>tTt p.S78F TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc010ajj.1_Missense_Mutation_p.S78F|TCRA_uc001wde.1_Missense_Mutation_p.S52F|TCRA_uc010aji.1_Missense_Mutation_p.S78F Homo sapiens TRA mRNA for T cell receptor alpha chain, partial cds, allele:TRAV19*01+TRAJ53*01. GAAATGGCCTCTCTGATCATC 0.463000 16 4 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53084834 53084834 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:53084834G>A uc003xqz.2 - 4 743 c.587C>T c.(586-588)tCt>tTt p.S196F ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.S161F|ST18_uc011lds.1_Missense_Mutation_p.S101F|ST18_uc003xra.2_Missense_Mutation_p.S196F|ST18_uc003xrb.2_Missense_Mutation_p.S196F NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 196 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGCACTTTCAGAGTTACTTTC 0.423000 57 11 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171355153 171355153 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:171355153G>A uc002ufy.3 + 25 3209 c.3066G>A c.(3064-3066)gaG>gaA p.E1022E MYO3B_uc002ufv.3_Silent_p.E1009E|MYO3B_uc010fqb.1_Silent_p.E1022E|MYO3B_uc002ufz.3_Silent_p.E1022E|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Intron NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA. 1022 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex ATP binding|actin binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 CTAGCAAAGAGAGCTGTGTGG 0.383000 58 7 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7622070 7622070 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:7622070C>T uc010xjq.2 + 28 3567 c.3327C>T c.(3325-3327)taC>taT p.Y1109Y PNPLA6_uc002mgq.2_Silent_p.Y1061Y|PNPLA6_uc010xjp.2_Silent_p.Y1034Y|PNPLA6_uc002mgr.2_Silent_p.Y1061Y|PNPLA6_uc002mgs.3_Silent_p.Y1099Y NM_001166111 NP_001159583 Q8IY17 PLPL6_HUMAN Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA. 1100 Patatin. cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 TGTGGCGGTACGTGCGCGCCA 0.667000 58 8 0 0 1 0 0 FLJ33360 401172 broad.mit.edu 37 5 6337290 6337290 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:6337290C>T uc003jdn.1 - 0 116 c.19G>A c.(19-21)Gag>Aag p.E7K Homo sapiens FLJ33360 protein (FLJ33360), non-coding RNA. CGTCTTCTCTCAATGCAGGTG 0.517000 92 11 0 0 1 0 0 FPR2 2358 broad.mit.edu 37 19 52272679 52272679 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:52272679C>T uc002pxr.3 + 1 813 c.768C>T c.(766-768)ccC>ccT p.P256P FPR2_uc002pxs.4_Silent_p.P256P|FPR2_uc010epf.3_Silent_p.P256P|FPR2_uc021uyp.1_Silent_p.P256P NM_001005738 NP_001453 P25090 FPR2_HUMAN Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA. 256 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity p.P256S(1) endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 GTTGGTTTCCCTTTCAACTGG 0.488000 37 7 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24809157 24809157 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:24809157G>A uc001iru.4 + 10 2686 c.2283G>A c.(2281-2283)gtG>gtA p.V761V KIAA1217_uc001irs.3_Silent_p.V681V|KIAA1217_uc001irt.4_Silent_p.V726V|KIAA1217_uc010qcy.2_Silent_p.V726V|KIAA1217_uc010qcz.2_Silent_p.V726V|KIAA1217_uc001irv.1_Silent_p.V576V|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Silent_p.V444V|KIAA1217_uc001irz.3_Silent_p.V444V|KIAA1217_uc001irx.3_Silent_p.V444V|KIAA1217_uc001iry.3_Silent_p.V444V NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 761 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 TGCGTCAAGTGGGAGAGGCTG 0.522000 103 18 0 0 1 0 0 ZFP57 346171 broad.mit.edu 37 6 29641171 29641171 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:29641171G>A uc011dlw.2 - 3 868 c.717C>T c.(715-717)acC>acT p.T239T NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA. 155 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 CATCACAGTAGGTCTTGTCAC 0.572000 63 6 0 0 1 0 0 FN3KRP 79672 broad.mit.edu 37 17 80684936 80684936 + Silent SNP C T T rs148008327 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:80684936C>T uc002kfu.3 + 5 869 c.819C>T c.(817-819)ttC>ttT p.F273F FN3KRP_uc010wvr.2_Silent_p.F223F NM_024619 NP_078895 Q9HA64 KT3K_HUMAN Homo sapiens fructosamine 3 kinase related protein (FN3KRP), mRNA. 273 kinase activity breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 7 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) CCCCAGGATTCGAGAAGCGCC 0.512000 90 13 0 0 1 0 0 STXBP5 134957 broad.mit.edu 37 6 147525724 147525724 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:147525724C>T uc003qlz.3 + 0 231 c.56C>T c.(55-57)tCg>tTg p.S19L LOC729178_uc003qlt.2_Non-coding_Transcript|LOC729178_uc003qlu.1_Non-coding_Transcript|STXBP5_uc010khz.2_Missense_Mutation_p.S19L|STXBP5_uc003qly.3_5'Flank NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA. 19 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) GGCTCGTCCTCGGCGTCGCAG 0.657000 20 4 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 204073420 204073420 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:204073420G>A uc002uzt.3 + 50 7813 c.7480G>A c.(7480-7482)Gag>Aag p.E2494K NBEAL1_uc021vvj.1_Missense_Mutation_p.E1128K|NBEAL1_uc002uzu.3_5'UTR NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA. 2494 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 ACACACCAACGAGGTACTGAG 0.403000 426 61 0 0 1 0 0 KRT28 162605 broad.mit.edu 37 17 38954639 38954639 + Missense_Mutation SNP C T T rs78572335 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:38954639C>T uc002hvh.1 - 2 604 c.538G>A c.(538-540)Gaa>Aaa p.E180K NM_181535 NP_853513 Q7Z3Y7 K1C28_HUMAN Homo sapiens keratin 28 (KRT28), mRNA. 180 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) AGCTCATTTTCATACCTTGGG 0.463000 90 9 0 0 1 0 0 UBTF 7343 broad.mit.edu 37 17 42293036 42293036 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:42293036G>A uc010czs.3 - 4 756 c.460C>T c.(460-462)Ccg>Tcg p.P154S UBTF_uc002igc.3_Missense_Mutation_p.P154S|UBTF_uc002igd.3_Missense_Mutation_p.P154S|UBTF_uc010czt.3_Missense_Mutation_p.P154S|UBTF_uc002ige.2_Missense_Mutation_p.P154S NM_014233 NP_055048 P17480 UBF1_HUMAN Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA. 154 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) TTCTTCTCCGGAAGCTCCTTG 0.562000 92 15 0 0 1 0 0 HTR3B 9177 broad.mit.edu 37 11 113816807 113816807 + Missense_Mutation SNP G C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:113816807G>C uc001pok.3 + 8 1412 c.1274G>C c.(1273-1275)gGg>gCg p.G425A HTR3B_uc001pol.3_Missense_Mutation_p.G414A NM_006028 NP_006019 O95264 5HT3B_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA. 425 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) TTCATGCTGGGGATCTACACC 0.552000 54 4 0 0 1 0 0 SERPINA6 866 broad.mit.edu 37 14 94776282 94776282 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:94776282C>T uc001ycv.3 - 2 779 c.675G>A c.(673-675)gaG>gaA p.E225E SERPINA6_uc010auv.3_Non-coding_Transcript NM_001756 NP_001747 P08185 CBG_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA. 225 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) CCACAGTTGTCTCGTCCACAT 0.557000 38 5 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11421019 11421019 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:11421019C>T uc001qzs.3 - 2 202 c.164G>A c.(163-165)gGa>gAa p.G55E PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA. 55 10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich. extracellular region Gram-negative bacterial cell surface binding p.G55E(3) breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TTCTGGCTTTCCTGGAGGAGG 0.597000 170 11 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9333681 9333681 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:9333681G>A uc001qvl.3 - 14 1766 c.1737C>T c.(1735-1737)gcC>gcT p.A579A PZP_uc009zgl.3_Silent_p.A448A NM_002864 NP_002855 Homo sapiens pregnancy-zone protein (PZP), mRNA. breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 CTTGCAGGTGGGCATGTGAGG 0.547000 21 4 0 0 1 0 0 PRKACG 5568 broad.mit.edu 37 9 71628386 71628386 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:71628386G>A uc004agy.3 - 0 654 c.623C>T c.(622-624)cCc>cTc p.P208L NM_002732 NP_002723 P22612 KAPCG_HUMAN Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA. 208 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 GATGATCTCGGGGGCCAGGTA 0.627000 30 4 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165561600 165561600 + Missense_Mutation SNP C T T rs138185294 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:165561600C>T uc002ucp.3 - 6 1234 c.1012G>A c.(1012-1014)Gga>Aga p.G338R COBLL1_uc002ucq.3_Missense_Mutation_p.G338R|COBLL1_uc010zcw.2_Missense_Mutation_p.G404R|COBLL1_uc010zcx.2_Missense_Mutation_p.G384R|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Missense_Mutation_p.G107R NM_014900 NP_055715 Q53SF7 COBL1_HUMAN Homo sapiens COBL-like 1 (COBLL1), mRNA. 376 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 CTCACTCTTCCTGCTTCACAG 0.443000 34 4 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102049786 102049786 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:102049786G>A uc001kqx.1 - 13 2619 c.2236C>T c.(2236-2238)Ccc>Tcc p.P746S PKD2L1_uc009xwm.1_Missense_Mutation_p.P699S NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA. 746 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) CCTGGGGAGGGAGCCAGCCAC 0.557000 96 7 0 0 1 0 0 GDAP2 54834 broad.mit.edu 37 1 118424453 118424453 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:118424453G>A uc001ehf.3 - 11 1593 c.1294C>T c.(1294-1296)Cgt>Tgt p.R432C GDAP2_uc001ehg.3_Missense_Mutation_p.R432C NM_017686 NP_060156 Q9NXN4 GDAP2_HUMAN Homo sapiens ganglioside induced differentiation associated protein 2 (GDAP2), transcript variant 1, mRNA. 432 CRAL-TRIO. kidney(2)|large_intestine(3)|lung(9)|ovary(2) 16 all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295) Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194) ACCTTTGAACGAAATGTGGGA 0.328000 8 4 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20636249 20636249 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:20636249C>T uc001mqd.3 + 5 1283 c.1010C>T c.(1009-1011)cCc>cTc p.P337L SLC6A5_uc009yic.3_Missense_Mutation_p.P102L NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA. 337 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) AGTGACCATCCCAAAATACAG 0.413000 66 5 0 0 1 0 0 IQCE 23288 broad.mit.edu 37 7 2611206 2611206 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:2611206C>T uc003sml.1 + 3 361 c.177C>T c.(175-177)tcC>tcT p.S59S IQCE_uc010ksm.1_Silent_p.S59S|IQCE_uc011jvy.1_Silent_p.S43S|IQCE_uc011jvz.1_5'UTR|IQCE_uc003smo.4_Silent_p.S59S|IQCE_uc003smk.4_Silent_p.S43S|IQCE_uc003smn.4_5'UTR NM_152558 NP_689771 Q6IPM2 IQCE_HUMAN Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA. 59 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) CCTGGAGGTCCCTCAGGACGG 0.597000 70 16 0 0 1 0 0 OR7E24 26648 broad.mit.edu 37 19 9362256 9362256 + Missense_Mutation SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9362256G>T uc002mlb.1 + 0 537 c.537G>T c.(535-537)ttG>ttT p.L179F NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA. 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TGCACAATTTGATTATGTTAC 0.438000 24 8 3.09899e-07 3.13784e-07 1 1 0 SYT11 23208 broad.mit.edu 37 1 155838372 155838372 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:155838372G>A uc001fmg.3 + 1 944 c.651G>A c.(649-651)aaG>aaA p.K217K SYT11_uc010pgq.2_Intron NM_152280 NP_689493 Q9BT88 SYT11_HUMAN Homo sapiens synaptotagmin XI (SYT11), mRNA. 217 C2 1. cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) TGCTGCGGAAGACCCTGGACC 0.557000 53 4 0 0 1 0 0 ZNF438 220929 broad.mit.edu 37 10 31137780 31137780 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:31137780G>A uc010qdz.2 - 6 1989 c.1554C>T c.(1552-1554)ttC>ttT p.F518F ZNF438_uc001ivn.3_Silent_p.F469F|ZNF438_uc010qdy.2_Silent_p.F508F|ZNF438_uc001ivo.4_Silent_p.F82F|ZNF438_uc009xlg.3_Silent_p.F518F|ZNF438_uc001ivp.4_Silent_p.F508F|ZNF438_uc010qea.2_Silent_p.F518F|ZNF438_uc010qeb.2_Silent_p.F518F|ZNF438_uc010qec.1_Silent_p.F82F NM_182755 NP_001137241 Q7Z4V0 ZN438_HUMAN Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA. 518 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) GGTGCTGTTTGAACTGGAAGT 0.512000 171 14 0 0 1 0 0 CERS5 91012 broad.mit.edu 37 12 50532358 50532358 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:50532358G>A uc001rwd.4 - 4 552 c.535C>T c.(535-537)Cca>Tca p.P179S CERS5_uc001rwc.3_Missense_Mutation_p.P98S|CERS5_uc001rwe.4_Missense_Mutation_p.P120S|CERS5_uc001rwf.4_Non-coding_Transcript|CERS5_uc010smq.1_Missense_Mutation_p.P35S NM_147190 NP_671723 Q8N5B7 CERS5_HUMAN Homo sapiens ceramide synthase 5 (CERS5), mRNA. 179 TLC. ceramide biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ACCTGAAATGGATAGTTATGC 0.483000 119 10 0 0 1 0 0 KANK3 256949 broad.mit.edu 37 19 8399453 8399453 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:8399453C>T uc010dwa.3 - 2 1324 c.1258G>A c.(1258-1260)Gag>Aag p.E420K KANK3_uc002mjp.1_5'Flank NM_198471 NP_940873 Q6NY19 KANK3_HUMAN Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA. 420 breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 GAGGGCGCCTCTGCCGGGGAC 0.751000 16 6 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61929359 61929359 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:61929359G>A uc011aau.2 + 2 280 c.180G>A c.(178-180)gtG>gtA p.V60V NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 60 Fibronectin type-III 1. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) TGGTGCAGGTGAAGCCCATGG 0.667000 34 13 0 0 1 0 0 ISLR2 57611 broad.mit.edu 37 15 74426457 74426457 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:74426457G>A uc002axd.3 + 3 2131 c.1362G>A c.(1360-1362)gcG>gcA p.A454A ISLR2_uc002axe.3_Silent_p.A454A|ISLR2_uc010bjg.3_Silent_p.A454A|ISLR2_uc010bjf.3_Silent_p.A454A|ISLR2_uc021sqe.1_Silent_p.A454A NM_001130136 NP_065902 Q6UXK2 ISLR2_HUMAN Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA. 454 positive regulation of axon extension cell surface|integral to membrane|plasma membrane breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 CGGACCCGGCGGAGGAGCAGC 0.657000 19 8 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 107114168 107114168 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:107114168G>A uc021ser.1 - 94 c.4158C>T Parts of antibodies, mostly variable regions. TAGCAACAAGGAAAACCCAGC 0.468000 52 4 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19410591 19410591 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:19410591C>T uc022btq.1 - 17 2195 c.2195_splice c.e17-1 p.G732_splice MAP3K15_uc004czj.2_Splice_Site_p.G167_splice|MAP3K15_uc004czk.2_Splice_Site_p.G207_splice NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA. 732 Protein kinase. ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) AGAAAGGCTTCCTAGAGACAG 0.423000 33 9 0 0 1 0 0 SH2D3A 10045 broad.mit.edu 37 19 6754880 6754880 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:6754880C>T uc002mft.3 - 4 1137 c.943G>A c.(943-945)Ggg>Agg p.G315R SH2D3A_uc010xjg.2_Missense_Mutation_p.G193R NM_005490 NP_005481 Q9BRG2 SH23A_HUMAN Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA. 315 JNK cascade|small GTPase mediated signal transduction intracellular SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 GCGGTGCTCCCAGGATGGTGC 0.647000 97 17 0 0 1 0 0 CD53 963 broad.mit.edu 37 1 111440430 111440430 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:111440430G>A uc001dzw.3 + 8 676 c.505_splice c.e8-1 p.G169_splice CD53_uc001dzx.3_Splice_Site_p.G169_splice|CD53_uc010owa.2_Splice_Site_p.G110_splice NM_001040033 NP_001035122 P19397 CD53_HUMAN Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA. 169 signal transduction integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 17 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) ATGTCTTCTAGGGTTGCTATG 0.368000 42 7 0 0 1 0 0 ITK 3702 broad.mit.edu 37 5 156679616 156679616 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:156679616G>A uc003lwo.1 + 17 1874 c.1792_splice c.e17-1 p.R598_splice NM_005546 NP_005537 Q08881 ITK_HUMAN Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA. 598 Protein kinase. T cell receptor signaling pathway|cellular defense response|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCCCTCTCCAGAGACCAGAAG 0.463000 T SYK peripheral T-cell lymphoma 155 20 0 0 1 0 0 MIB2 142678 broad.mit.edu 37 1 1565904 1565904 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:1565904C>T uc001agg.3 + 19 3252 c.3207C>T c.(3205-3207)ttC>ttT p.F1069F MIB2_uc001agh.3_Silent_p.F1055F|MIB2_uc001agi.3_Silent_p.F1065F|MIB2_uc001agj.3_Silent_p.F853F|MIB2_uc001agk.3_Silent_p.F1004F|MIB2_uc001agm.3_3'UTR|MIB2_uc010nyq.2_Silent_p.F968F|MIB2_uc009vkh.3_Silent_p.F818F|MIB2_uc001agn.3_Silent_p.F644F|MIB2_uc001ago.3_Silent_p.F95F|MMP23B_uc001agp.3_5'Flank|MMP23B_uc001agq.3_5'Flank|MMP23B_uc001agr.3_5'Flank|MMP23B_uc009vki.3_5'Flank NM_080875 NP_543151 Q96AX9 MIB2_HUMAN Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA. 1012 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TCCAGATCTTCGTGTGAGCCG 0.677000 18 5 0 0 1 0 0 RAMP3 10268 broad.mit.edu 37 7 45222924 45222924 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:45222924C>T uc003tnb.3 + 2 421 c.360C>T c.(358-360)atC>atT p.I120I NM_005856 NP_005847 O60896 RAMP3_HUMAN Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA. 120 intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane|lysosome protein transporter activity breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 11 Pramlintide(DB01278) AGGTTCTCATCCCGCTGATCG 0.632000 146 42 0 0 1 0 0 DUSP10 11221 broad.mit.edu 37 1 221913020 221913020 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:221913020G>A uc001hmy.2 - 1 304 c.67C>T c.(67-69)Ctc>Ttc p.L23F DUSP10_uc001hmx.2_5'Flank|DUSP10_uc001hmz.2_Intron NM_007207 NP_009138 Q9Y6W6 DUS10_HUMAN Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA. 23 JNK cascade|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(131;0.0103) CAAAGGTTGAGATCCTGAGGT 0.537000 109 17 0 0 1 0 0 FIGN 55137 broad.mit.edu 37 2 164466911 164466911 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:164466911G>A uc002uck.1 - 2 1742 c.1431C>T c.(1429-1431)atC>atT p.I477I NM_018086 NP_060556 Q5HY92 FIGN_HUMAN Homo sapiens fidgetin (FIGN), mRNA. 477 nuclear matrix ATP binding|nucleoside-triphosphatase activity p.I476S(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 GTCCTTGGGTGATAATCTCAT 0.522000 35 6 0 0 1 0 0 C1orf64 149563 broad.mit.edu 37 1 16332565 16332565 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:16332565G>A uc001axn.3 + 1 302 c.234G>A c.(232-234)atG>atA p.M78I NM_178840 NP_849162 Q8NEQ6 CA064_HUMAN Homo sapiens chromosome 1 open reading frame 64 (C1orf64), mRNA. 78 breast(2)|endometrium(1)|lung(3) 6 Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649) CCCCACCAATGAAGACCTACA 0.627000 109 30 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2722564 2722564 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:2722564C>T uc002klm.4 + 19 2695 c.2506C>T c.(2506-2508)Cgt>Tgt p.R836C SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Intron NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA. 836 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 TCTTCCTTTTCGTGTTGGAGT 0.373000 46 4 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77893556 77893556 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:77893556C>T uc002lnw.3 + 3 715 c.260C>T c.(259-261)tCa>tTa p.S87L NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN Homo sapiens ADNP homeobox 2 (ADNP2), mRNA. 87 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) GTGCTTACTTCATTCAAGAAT 0.378000 51 5 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35955747 35955747 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:35955747C>T uc003jjv.2 - 6 1488 c.1295_splice c.e6+1 p.R432_splice UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.R432K|UGT3A1_uc011cor.2_Missense_Mutation_p.R398K NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA. 432 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGCCACATACCTCTTGTCTTC 0.403000 48 6 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3067449 3067449 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:3067449G>A uc002klp.3 - 37 5203 c.4869C>T c.(4867-4869)ttC>ttT p.F1623F MYOM1_uc002klq.3_Silent_p.F1527F NM_003803 NP_003794 P52179 MYOM1_HUMAN Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA. 1623 Ig-like C2-type 5. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TCCCAGCCTCGAACTTGAGGT 0.582000 48 8 0 0 1 0 0 PPP2R3B 28227 broad.mit.edu 37 X 295200 295200 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:295200G>A uc004cpg.3 - 12 1894 c.1630C>T c.(1630-1632)Ccg>Tcg p.P544S PPP2R3B_uc004cpf.3_Missense_Mutation_p.P145S NM_013239 NP_037371 Q9Y5P8 P2R3B_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA. 544 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGGGCCAGCGGGGAGCGCAGC 0.701000 30 5 0 0 1 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55263163 55263163 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55263163C>T uc002qgx.3 + 5 815 c.778C>T c.(778-780)Ctc>Ttc p.L260F KIR2DL1_uc010erw.1_Missense_Mutation_p.L260F|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron NM_015868 NP_056952 P43626 KI2L1_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 (KIR2DL3), mRNA. 259 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) cttcatcctcctcctcttctt 0.502000 78 6 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6076747 6076747 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:6076747C>T uc001qnn.1 - 46 8042 c.7792G>A c.(7792-7794)Gat>Aat p.D2598N VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 2598 VWFC 3. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GTGCACACATCGATCATCACA 0.622000 115 16 0 0 1 0 0 CELA3B 23436 broad.mit.edu 37 1 22332203 22332203 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:22332203G>A uc001bfl.3 + 3 295 c.276G>A c.(274-276)gtG>gtA p.V92V CELA3B_uc009vqf.3_Silent_p.V91V NM_005747 NP_005738 P08861 CEL3B_HUMAN Homo sapiens chymotrypsin-like elastase family, member 3A (CELA3A), mRNA. 92 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 ACCTTGCTGTGAAGGAGGGCC 0.597000 OREG0013211 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 77 6 0 0 1 0 0 GSDMC 56169 broad.mit.edu 37 8 130788433 130788433 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:130788433C>T uc003ysr.3 - 2 1201 c.319G>A c.(319-321)Ggg>Agg p.G107R NM_031415 NP_113603 Q9BYG8 GSDMC_HUMAN Homo sapiens gasdermin C (GSDMC), mRNA. 107 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 GAGGCCTCCCCTGACACACTC 0.478000 70 4 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 37002149 37002149 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:37002149C>T uc002rpl.3 + 8 1043 c.741C>T c.(739-741)atC>atT p.I247I VIT_uc002rpm.3_Silent_p.I247I|VIT_uc010ezv.3_Intron|VIT_uc010ezw.3_Silent_p.I247I NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN Homo sapiens vitrin (VIT), transcript variant 1, mRNA. 247 proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) CCTCAGGTATCCAAAGGCAAG 0.507000 62 15 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39033710 39033710 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:39033710C>T uc002rrf.3 - 21 3906 c.3807G>A c.(3805-3807)gtG>gtA p.V1269V DHX57_uc002rrd.4_Intron|DHX57_uc002rre.3_Silent_p.V702V NM_198963 NP_945314 Q6P158 DHX57_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA. 1269 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) CCTGATAGTTCACTGATGAAG 0.423000 78 35 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56330154 56330154 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:56330154C>T uc021wzo.1 - 1 1107 c.967G>A c.(967-969)Gag>Aag p.E323K ERC2_uc003dhr.1_Missense_Mutation_p.E323K NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 323 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TTGTCATCCTCCAGGCTTTTG 0.448000 160 13 0 0 1 0 0 ANKS4B 257629 broad.mit.edu 37 16 21262025 21262025 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:21262025G>A uc010bwp.1 + 1 1181 c.1138G>A c.(1138-1140)Gag>Aag p.E380K CRYM_uc010bwq.1_Intron NM_145865 NP_665872 Q8N8V4 ANS4B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA. 380 SAM. NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) CTGCTCTGATGAGGACCTTCA 0.512000 57 9 0 0 1 0 0 CTR9 9646 broad.mit.edu 37 11 10778311 10778311 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:10778311C>T uc001mja.3 + 4 667 c.518C>T c.(517-519)tCc>tTc p.S173F NM_014633 NP_055448 Q6PD62 CTR9_HUMAN Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA. 173 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GCTTGCATTTCCTTCAACAAG 0.318000 67 9 0 0 1 0 0 CAPN11 11131 broad.mit.edu 37 6 44144700 44144700 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:44144700G>A uc003owt.1 + 10 1240 c.1202G>A c.(1201-1203)aGa>aAa p.R401K CAPN11_uc011dvn.2_Missense_Mutation_p.R55K NM_007058 NP_008989 Q9UMQ6 CAN11_HUMAN Homo sapiens calpain 11 (CAPN11), mRNA. 401 Domain III. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AGCTGGCGCAGAGGCAGCTCC 0.632000 182 32 0 0 1 0 0 CRAT 1384 broad.mit.edu 37 9 131857693 131857693 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:131857693G>A uc004bxh.3 - 13 2146 c.1864C>T c.(1864-1866)Ccc>Tcc p.P622S CRAT_uc004bxk.4_Missense_Mutation_p.P601S NM_000755 NP_000746 P43155 CACP_HUMAN Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 622 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) TTGGCCCGGGGGTGGCTCTGC 0.682000 50 4 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133948005 133948005 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:133948005G>A uc003ytw.3 + 24 4978 c.4937G>A c.(4936-4938)cGa>cAa p.R1646Q TG_uc010mdw.3_Missense_Mutation_p.R405Q|TG_uc011ljb.2_Missense_Mutation_p.R79Q NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 1646 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTCCAGAAACGAGATGCACTG 0.458000 45 4 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157667118 157667118 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:157667118C>T uc001fqz.4 - 5 948 c.656G>A c.(655-657)aGg>aAg p.R219K FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Splice_Site|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Missense_Mutation_p.R219K|FCRL3_uc001frc.1_Missense_Mutation_p.R219K NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Homo sapiens Fc receptor-like 3 (FCRL3), mRNA. 219 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) GACATCTGGCCTCTGTGGAGA 0.577000 42 5 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156849869 156849869 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:156849869G>A uc001fqh.1 + 15 2181 c.2125G>A c.(2125-2127)Gac>Aac p.D709N NTRK1_uc001fqf.1_Missense_Mutation_p.D673N|NTRK1_uc009wsi.1_Missense_Mutation_p.D408N|NTRK1_uc001fqi.1_Missense_Mutation_p.D703N|NTRK1_uc009wsk.1_Missense_Mutation_p.D706N NM_002529 NP_002520 P04629 NTRK1_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA. 709 Protein kinase. Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CACCGAGAGCGACGTGTGGAG 0.647000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 75 7 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40356210 40356210 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:40356210G>A uc003gva.1 + 4 1129 c.1113G>A c.(1111-1113)acG>acA p.T371T NM_017581 NP_060051 Q9UGM1 ACHA9_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA. 371 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) ACCACCTCACGAAAGTTTATA 0.493000 69 7 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 477505 477505 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:477505C>T uc003jbe.2 - 10 1814 c.1702G>A c.(1702-1704)Gtc>Atc p.V568I SLC9A3_uc011clx.1_Missense_Mutation_p.V559I|BC013821_uc011cly.2_5'Flank NM_004174 NP_004165 P48764 SL9A3_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA. 568 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TCCACGTTGACCACGTTGTCG 0.652000 37 4 0 0 1 0 0 ZNF485 220992 broad.mit.edu 37 10 44104183 44104183 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:44104183C>T uc010qfc.2 + 2 340 c.146C>T c.(145-147)tCt>tTt p.S49F ZNF485_uc010qfd.2_Intron NM_145312 NP_660355 Q8NCK3 ZN485_HUMAN Homo sapiens zinc finger protein 485 (ZNF485), mRNA. 49 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 AATCTGGTGTCTGTGGGTGAG 0.507000 50 4 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186113349 186113349 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:186113349G>A uc001grq.1 + 89 14198 c.13969G>A c.(13969-13971)Gaa>Aaa p.E4657K MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.E226K NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 4657 TSP type-1 3. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AACATGCAGCGAAAGTTGTGG 0.488000 45 5 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2071212 2071213 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:2071212_2071213GG>AA uc003wpx.4 + 28 3679_3680 c.3541_3542GG>AA c.(3541-3543)gga>AAa p.G1181K MYOM2_uc011kwi.2_Missense_Mutation_p.G606K NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 1181 Ig-like C2-type 4. muscle contraction myosin filament structural constituent of muscle p.G1181V(2) autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CCTGGAGAGGGGAATCTGTGAG 0.421000 42 5 0 0 1 0 0 ADH1C 126 broad.mit.edu 37 4 100266094 100266094 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:100266094G>A uc021xqi.1 - 4 c.577C>T NM_000669 P00326 ADH1G_HUMAN Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA. ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) CCAGGGGCGAGGCTGCATCAA 0.517000 46 5 0 0 1 0 0 GPR156 165829 broad.mit.edu 37 3 119911852 119911852 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:119911852G>A uc011bjf.2 - 3 788 c.408C>T c.(406-408)ggC>ggT p.G136G GPR156_uc011bjg.2_Silent_p.G136G NM_153002 NP_694547 Q8NFN8 GP156_HUMAN Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA. 136 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) CCAGAATGGGGCCAAACACAA 0.512000 28 5 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74474338 74474338 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:74474338G>A uc002sko.1 - 13 1886 c.1884C>T c.(1882-1884)atC>atT p.I628I SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.I628I|SLC4A5_uc010ffc.1_Silent_p.I628I|SLC4A5_uc002skp.1_Silent_p.I564I|SLC4A5_uc002sks.1_Silent_p.I628I NM_021196 NP_067019 Q9BY07 S4A5_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA. 628 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TATATTTGATGATAAAGCTGG 0.512000 126 16 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42356660 42356660 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:42356660C>T uc001wvm.3 + 2 2030 c.832C>T c.(832-834)Cct>Tct p.P278S LRFN5_uc010ana.3_Missense_Mutation_p.P278S NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA. 278 LRRCT. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TTGGTCAATTCCTGAAGAAGA 0.473000 HNSCC(30;0.082) 79 10 0 0 1 0 0 SAMD4A 23034 broad.mit.edu 37 14 55243226 55243226 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:55243226C>T uc001xbb.3 + 9 2317 c.2009C>T c.(2008-2010)tCc>tTc p.S670F SAMD4A_uc001xbc.3_Missense_Mutation_p.S583F|SAMD4A_uc001xbg.2_Missense_Mutation_p.S262F NM_015589 NP_056404 Q9UPU9 SMAG1_HUMAN Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA. 671 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity p.S670S(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 GTGCACACTTCCCCACAGAAC 0.612000 145 27 0 0 1 0 0 FAM5C 339479 broad.mit.edu 37 1 190129896 190129896 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:190129896C>T uc001gse.1 - 6 1318 c.1086G>A c.(1084-1086)atG>atA p.M362I FAM5C_uc010pot.1_Missense_Mutation_p.M260I NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 362 extracellular region p.S361N(1)|p.S361R(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AAAGTTGTTTCATGCTGTTCT 0.403000 15 6 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50558962 50558962 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:50558962C>T uc003bjj.3 + 9 1569 c.1486C>T c.(1486-1488)Ccc>Tcc p.P496S MOV10L1_uc003bjk.4_Missense_Mutation_p.P496S|MOV10L1_uc011arp.2_Missense_Mutation_p.P476S|MOV10L1_uc011arq.1_Missense_Mutation_p.P257S|MOV10L1_uc010hao.1_Intron NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA. 496 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) AAGTTTTCTTCCCCAATATCC 0.363000 70 11 0 0 1 0 0 CLIP2 7461 broad.mit.edu 37 7 73731909 73731909 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:73731909C>T uc003uam.3 + 1 360 c.33C>T c.(31-33)ggC>ggT p.G11G CLIP2_uc003uan.3_Silent_p.G11G NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA. 11 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 AGCCCCCCGGCCGTGGGGGGA 0.662000 92 17 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81944272 81944272 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:81944272C>T uc002fgt.3 + 17 2059 c.1881C>T c.(1879-1881)ttC>ttT p.F627F PLCG2_uc010chg.1_Silent_p.F627F NM_002661 NP_002652 P16885 PLCG2_HUMAN Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA. 627 SH2 1. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 GCGCCGAGTTCGAGCTGCGGC 0.632000 131 20 0 0 1 0 0 FUZ 80199 broad.mit.edu 37 19 50311713 50311713 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:50311713G>A uc002ppq.2 - 9 1195 c.991C>T c.(991-993)Cga>Tga p.R331* FUZ_uc002ppt.2_Non-coding_Transcript|FUZ_uc002ppu.2_Nonsense_Mutation_p.R295* NM_025129 NP_079405 Q9BT04 FUZZY_HUMAN Homo sapiens fuzzy homolog (Drosophila) (FUZ), transcript variant 1, mRNA. 331 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TAGAAGTTTCGGAGGAGGCGC 0.672000 17 7 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151123310 151123310 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:151123310C>T uc004ffi.3 - 8 1438 c.1384G>A c.(1384-1386)Gat>Aat p.D462N GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_Non-coding_Transcript NM_004961 NP_004952 P78334 GBRE_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA. 462 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) CCCTCACAATCGGGGACCATG 0.567000 18 9 0 0 1 0 0 SGPP2 130367 broad.mit.edu 37 2 223339386 223339386 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:223339386C>T uc010zlo.2 + 1 319 c.319C>T c.(319-321)Cca>Tca p.P107S SGPP2_uc010zlp.2_5'UTR NM_152386 NP_689599 Q8IWX5 SGPP2_HUMAN Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA. 107 sphingosine metabolic process endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 18 Renal(207;0.0376) Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143) CACGTTTCTTCCATTCACTCA 0.353000 54 5 0 0 1 0 0 WNT3 7473 broad.mit.edu 37 17 44851070 44851070 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:44851070C>T uc002ikv.2 - 1 405 c.286G>A c.(286-288)Gac>Aac p.D96N NM_030753 NP_110380 P56703 WNT3_HUMAN Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA. 96 Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity endometrium(2)|large_intestine(6)|lung(4)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(9;0.0257) GCCAGGCTGTCATCTATGGTG 0.662000 62 13 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248039388 248039388 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:248039388G>A uc001ido.3 + 5 1106 c.1058G>A c.(1057-1059)gGa>gAa p.G353E OR2W3_uc001idp.1_Intron NM_015431 NP_056246 Q8NG06 TRI58_HUMAN Homo sapiens tripartite motif containing 58 (TRIM58), mRNA. 353 B30.2/SPRY. intracellular zinc ion binding p.G353E(2)|p.G353R(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GTTCTGGTGGGAGAAGGAGCA 0.572000 41 5 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120582578 120582578 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:120582578G>A uc001txo.3 - 40 5230 c.5217C>T c.(5215-5217)atC>atT p.I1739I NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 1739 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTGTAGCCACGATTTCTGGCA 0.507000 167 15 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26462972 26462973 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:26462972_26462973GG>AA uc001isn.2 + 29 4139_4140 c.3779_3780GG>AA c.(3778-3780)agg>aAA p.R1260K MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 1260 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TATCTAGAAAGGAAGGCCATAT 0.421000 32 5 0 0 1 0 0 ERICH1 157697 broad.mit.edu 37 8 665975 665975 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:665975G>A uc003wph.3 - 1 120 c.55C>T c.(55-57)Cct>Tct p.P19S NM_207332 NP_997215 Q86X53 ERIC1_HUMAN Homo sapiens glutamate-rich 1 (ERICH1), mRNA. 19 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) GGAACAGGAGGAAAAAGTCTC 0.458000 82 9 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702970 27702970 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:27702970C>T uc001itu.2 - 0 328 c.210G>A c.(208-210)gaG>gaA p.E70E NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 70 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 CATCGTCCCCCTCTGGCAGGG 0.711000 62 15 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83781746 83781746 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:83781746G>A uc010vns.2 + 11 1977 c.1713G>A c.(1711-1713)ctG>ctA p.L571L CDH13_uc002fgx.3_Silent_p.L524L|CDH13_uc010vnt.2_Silent_p.L270L|CDH13_uc010vnu.2_Silent_p.L485L NM_001220488 NP_001207417 P55290 CAD13_HUMAN Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA. 524 Cadherin 4. Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) CAGGTTGGCTGAATATTAACC 0.463000 101 13 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184039405 184039405 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:184039405C>T uc003fnp.3 + 9 1304 c.1033C>T c.(1033-1035)Ctc>Ttc p.L345F EIF4G1_uc003fno.2_Missense_Mutation_p.L286F|EIF4G1_uc010hxw.2_Missense_Mutation_p.L181F|EIF4G1_uc010hxx.3_Missense_Mutation_p.L352F|EIF4G1_uc003fnt.3_Missense_Mutation_p.L56F|EIF4G1_uc010hxy.3_Missense_Mutation_p.L352F|EIF4G1_uc003fnq.3_Missense_Mutation_p.L258F|EIF4G1_uc003fnr.3_Missense_Mutation_p.L181F|EIF4G1_uc003fns.3_Missense_Mutation_p.L305F|EIF4G1_uc003fnv.4_Missense_Mutation_p.L345F|EIF4G1_uc003fnw.3_Missense_Mutation_p.L352F|EIF4G1_uc003fnx.3_Missense_Mutation_p.L149F NM_198241 NP_937885 Q04637 IF4G1_HUMAN Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA. 345 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TTCCAGTCCTCTCCAGGCTCC 0.527000 79 7 0 0 1 0 0 SEMA3G 56920 broad.mit.edu 37 3 52475646 52475646 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:52475646C>T uc003dea.1 - 5 611 c.611G>A c.(610-612)cGa>cAa p.R204Q NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA. 204 Sema. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) ACCTCCACTTCGGAAGATCAT 0.637000 49 5 0 0 1 0 0 BTN1A1 696 broad.mit.edu 37 6 26505314 26505314 + Missense_Mutation SNP G C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:26505314G>C uc003nif.4 + 2 646 c.589G>C c.(589-591)Gaa>Caa p.E197Q NM_001732 NP_001723 Q13410 BT1A1_HUMAN Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA. 197 Ig-like V-type 2. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 TCCTGATGAAGAAGGTTTGTT 0.498000 60 7 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55570420 55570420 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:55570420C>T uc021pqw.1 - 34 4803 c.4408G>A c.(4408-4410)Gaa>Aaa p.E1470K PCDH15_uc010qhq.2_Missense_Mutation_p.E1463K|PCDH15_uc010qhr.2_Missense_Mutation_p.E1458K|PCDH15_uc021pqv.1_Missense_Mutation_p.M1483I|PCDH15_uc010qht.2_Missense_Mutation_p.E1465K|PCDH15_uc021pqx.1_Missense_Mutation_p.M1481I NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA. 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TGAGGCATTTCATACCTGTAA 0.418000 HNSCC(58;0.16) 70 7 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152432234 152432234 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:152432234C>T uc021vrb.1 - 77 11914 c.11885G>A c.(11884-11886)aGa>aAa p.R3962K NEB_uc002txr.3_Missense_Mutation_p.R428K|NEB_uc002txu.3_Missense_Mutation_p.R5663K|NEB_uc021vrc.1_Missense_Mutation_p.R5663K|NEB_uc010fnx.3_Missense_Mutation_p.R3950K|NEB_uc021vrd.1_Missense_Mutation_p.R3962K NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 3962 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AGCATTTGCTCTAGCGAGATT 0.388000 92 6 0 0 1 0 0 PCDHB18 54660 broad.mit.edu 37 5 140615806 140615806 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140615806C>T uc003ljc.1 + 0 1869 c.1521C>T c.(1519-1521)ttC>ttT p.F507F Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA. endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 ACTCGCCCTTCGTGCTGTACC 0.716000 49 5 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212288919 212288919 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:212288919G>A uc002veg.1 - 22 2925 c.2827C>T c.(2827-2829)Ccc>Tcc p.P943S ERBB4_uc002veh.1_Missense_Mutation_p.P943S|ERBB4_uc010zji.1_Missense_Mutation_p.P933S|ERBB4_uc010zjj.1_Missense_Mutation_p.P933S NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 943 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GTGCAGATGGGAGGCTGAGGC 0.388000 TSP Lung(8;0.080) 28 7 0 0 1 0 0 PDPK1 5170 broad.mit.edu 37 16 2636724 2636724 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:2636724C>T uc002cqs.3 + 10 1317 c.1173C>T c.(1171-1173)tcC>tcT p.S391S PDPK1_uc002cqt.3_Silent_p.S264S|PDPK1_uc010bsn.3_Silent_p.S391S|PDPK1_uc002cqu.3_Silent_p.S364S NM_002613 NP_002604 O15530 PDPK1_HUMAN Homo sapiens 3-phosphoinositide dependent protein kinase-1 (PDPK1), transcript variant 1, mRNA. 391 Poly-Ser. T cell costimulation|T cell receptor signaling pathway|actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission cytosol|nucleoplasm|plasma membrane 3-phosphoinositide-dependent protein kinase activity|ATP binding central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 7 Ovarian(90;0.17) Celecoxib(DB00482) TGTCTTCGTCCTCCTCCTCAC 0.552000 91 7 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137620647 137620647 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:137620647C>T uc004cfe.3 + 5 1300 c.918C>T c.(916-918)gtC>gtT p.V306V NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 306 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCACAGAGGTCCCCGAGGTCT 0.632000 85 20 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100086274 100086274 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:100086274G>A uc003uvd.1 + 3 1089 c.930G>A c.(928-930)cgG>cgA p.R310R NYAP1_uc003uve.1_Silent_p.R92R NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA. 310 Pro-rich. TCCCGAGCCGGAGGGACGGGA 0.682000 80 6 0 0 1 0 0 UBE3A 7337 broad.mit.edu 37 15 25616062 25616062 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:25616062G>A uc001zaq.3 - 6 2028 c.1268C>T c.(1267-1269)cCt>cTt p.P423L SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Missense_Mutation_p.P400L|UBE3A_uc001zas.3_Missense_Mutation_p.P420L|UBE3A_uc001zat.3_Missense_Mutation_p.P400L NM_000462 NP_570853 Q05086 UBE3A_HUMAN Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA. 423 Interaction with HCV core protein. P -> L (in Ref. 7; AAA35542). brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 38 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) GTCCACTCGAGGACCTTTCTT 0.433000 14 3 0 0 1 0 0 IFIT3 3437 broad.mit.edu 37 10 91098435 91098435 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:91098435C>T uc001kgf.3 + 1 252 c.23C>T c.(22-24)tCc>tTc p.S8F LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron|IFIT3_uc001kgg.3_Missense_Mutation_p.S8F NM_001549 NP_001540 O14879 IFIT3_HUMAN Homo sapiens interferon-induced protein with tetratricopeptide repeats 3 (IFIT3), transcript variant 1, mRNA. 8 type I interferon-mediated signaling pathway protein binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1) 15 ACCAAGAATTCCCTGGAGAAA 0.418000 26 6 0 0 1 0 0 LRRC55 219527 broad.mit.edu 37 11 56949699 56949699 + Missense_Mutation SNP G A A rs112411315 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:56949699G>A uc001njl.2 + 0 479 c.332G>A c.(331-333)cGa>cAa p.R111Q NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA. 81 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 ATGGACACCCGAAACCTCAGC 0.597000 30 5 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123019025 123019025 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:123019025C>T uc003egh.2 - 14 2842 c.2842G>A c.(2842-2844)Gag>Aag p.E948K ADCY5_uc021xdd.1_Missense_Mutation_p.E598K|ADCY5_uc003egg.2_Missense_Mutation_p.E581K|ADCY5_uc003egi.1_Missense_Mutation_p.E507K NM_183357 NP_899200 O95622 ADCY5_HUMAN Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA. 948 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|adenylate cyclase activity|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CCTGGCACCTCCACGATGAGC 0.627000 50 4 0 0 1 0 0 SPAG7 9552 broad.mit.edu 37 17 4863178 4863178 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:4863178G>A uc002gae.3 - 5 484 c.451C>T c.(451-453)Cag>Tag p.Q151* SPAG7_uc002gaf.3_Nonsense_Mutation_p.Q151* NM_004890 NP_004881 O75391 SPAG7_HUMAN Homo sapiens sperm associated antigen 7 (SPAG7), mRNA. 151 nucleus nucleic acid binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1) 10 GGCCCCTGCTGGGCTGCCTCC 0.652000 50 9 0 0 1 0 0 MBTPS1 8720 broad.mit.edu 37 16 84108247 84108247 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:84108247G>A uc002fhi.3 - 11 2050 c.1548C>T c.(1546-1548)gtC>gtT p.V516V MBTPS1_uc002fhh.3_Silent_p.V20V NM_003791 NP_003782 Q14703 MBTP1_HUMAN Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA. 516 cholesterol metabolic process|proteolysis Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TGAGGATGGTGACATTAACAA 0.493000 36 7 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55333131 55333131 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55333131C>T uc002qhl.4 + 4 830 c.767C>T c.(766-768)tCc>tTc p.S256F KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.S256F|KIR3DL2_uc010esf.3_Missense_Mutation_p.S161F|KIR3DL2_uc021vbo.1_Missense_Mutation_p.S256F|KIR3DL2_uc002qhk.4_Missense_Mutation_p.S256F P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA. 256 Ig-like C2-type 3. cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) TACCATCTATCCAGGGAGGGG 0.607000 36 9 0 0 1 0 0 FZR1 51343 broad.mit.edu 37 19 3527037 3527037 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:3527037C>T uc010dtk.2 + 4 481 c.447C>T c.(445-447)tcC>tcT p.S149S FZR1_uc002lxt.2_Silent_p.S149S|FZR1_uc002lxv.2_Intron NM_001136198 NP_001129670 Q9UM11 FZR_HUMAN Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA. 149 DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm protein binding endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCCTACTCCCTGTCTCCCG 0.642000 59 19 0 0 1 0 0 FOXK1 221937 broad.mit.edu 37 7 4780485 4780485 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:4780485C>T uc003snc.1 + 1 587 c.577C>T c.(577-579)Ccc>Tcc p.P193S FOXK1_uc003sna.1_Missense_Mutation_p.P30S|FOXK1_uc003snb.1_Missense_Mutation_p.P193S NM_001037165 NP_001032242 P85037 FOXK1_HUMAN Homo sapiens forkhead box K1 (FOXK1), mRNA. 193 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.P193P(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) CTTCCGGTTTCCCAGCACGGC 0.602000 324 37 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16026032 16026032 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:16026032C>T uc010lsu.3 - 3 683 c.619G>A c.(619-621)Gat>Aat p.D207N MSR1_uc003wwz.3_Missense_Mutation_p.D189N|MSR1_uc003wxa.3_Missense_Mutation_p.D189N|MSR1_uc003wxb.3_Missense_Mutation_p.D189N|MSR1_uc011kxz.2_Intron NM_138715 NP_619729 P21757 MSRE_HUMAN Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA. 189 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) AGCTGCAAATCAAGCAATGTG 0.403000 39 5 0 0 1 0 0 ZNF530 348327 broad.mit.edu 37 19 58117924 58117924 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:58117924C>T uc002qpk.2 + 2 1251 c.1031C>T c.(1030-1032)gCc>gTc p.A344V ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_Intron NM_020880 NP_065931 Q6P9A1 ZN530_HUMAN Homo sapiens zinc finger protein 530 (ZNF530), mRNA. 344 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CACAGGAGTGCCCACACTAGC 0.463000 67 5 0 0 1 0 0 C9orf64 84267 broad.mit.edu 37 9 86559760 86559760 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:86559760G>A uc004anb.3 - 2 990 c.742C>T c.(742-744)Cat>Tat p.H248Y C9orf64_uc004anc.3_Missense_Mutation_p.H107Y NM_032307 NP_115683 Q5T6V5 CI064_HUMAN Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA. 248 central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 GCTCCAAGATGAGCAAGAACC 0.403000 48 5 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33614355 33614355 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:33614355C>T uc021vft.1 + 31 4839 c.4816C>T c.(4816-4818)Ccc>Tcc p.P1606S LTBP1_uc002rou.3_Missense_Mutation_p.P1280S|LTBP1_uc002rov.3_Missense_Mutation_p.P1227S|LTBP1_uc010ymz.2_Missense_Mutation_p.P1238S|LTBP1_uc010yna.2_Missense_Mutation_p.P1185S|LTBP1_uc010ynb.2_Missense_Mutation_p.P504S NM_206943 NP_996826 Q14766 LTBP1_HUMAN Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA. 1606 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AGAAGCCGATCCCTACTTCAT 0.473000 41 16 0 0 1 0 0 TMEM217 221468 broad.mit.edu 37 6 37186564 37186564 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:37186564G>A uc003onl.3 - 1 324 c.243C>T c.(241-243)ttC>ttT p.F81F TMEM217_uc010jwr.3_Silent_p.F81F|TMEM217_uc010jws.3_Intron|TMEM217_uc003onm.4_Silent_p.F81F NM_145316 NP_660359 Q8N7C4 TM217_HUMAN Homo sapiens transmembrane protein 217 (TMEM217), transcript variant 1, mRNA. 81 integral to membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(1) 9 AGTACAGGAGGAAGCAGCTGA 0.423000 77 6 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101777698 101777698 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:101777698G>A uc004azb.1 + 10 1560 c.1354_splice c.e10-1 p.G452_splice NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 452 4 X tandem repeats.|Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TTTCATTTCAGGGTCCAAGCA 0.547000 43 7 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52557706 52557706 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:52557706G>A uc003dej.3 + 65 7403 c.7329G>A c.(7327-7329)tgG>tgA p.W2443* STAB1_uc003del.3_Nonsense_Mutation_p.W355* NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 2443 FAS1 7. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TCATTGTGTGGGACATCATGG 0.632000 45 5 0 0 1 0 0 ZNF259 8882 broad.mit.edu 37 11 116649654 116649654 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:116649654G>A uc001ppp.3 - 13 1400 c.1367C>T c.(1366-1368)gCt>gTt p.A456V NM_003904 NP_003895 O75312 ZPR1_HUMAN Homo sapiens zinc finger protein 259 (ZNF259), mRNA. 456 cell proliferation|signal transduction cytoplasm|nucleolus breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153) CCGTTGCGGAGCCAGGCCTGC 0.537000 207 24 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53057439 53057439 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:53057439G>A uc010epq.1 + 4 1447 c.1270G>A c.(1270-1272)Gag>Aag p.E424K ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN Homo sapiens zinc finger protein 808 (ZNF808), mRNA. 424 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) TCATACTGGAGAGAAACCTTA 0.358000 25 4 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79581018 79581018 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:79581018G>A uc001jzk.3 - 14 3294 c.3224C>T c.(3223-3225)tCc>tTc p.S1075F DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.S679F NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA. 1075 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GTAGTAGCTGGAAGCAATGCG 0.652000 68 4 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181754461 181754461 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:181754461C>T uc009wxt.3 + 41 5781 c.5586C>T c.(5584-5586)gaC>gaT p.D1862D CACNA1E_uc001gow.3_Silent_p.D1862D|CACNA1E_uc009wxs.3_Silent_p.D1843D NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1862 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TAGCCTCTGACCTGACTGTGG 0.468000 14 4 0 0 1 0 0 NRN1 51299 broad.mit.edu 37 6 6002701 6002701 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:6002701C>T uc003mwu.3 - 1 736 c.85G>A c.(85-87)Ggc>Agc p.G29S NRN1_uc021ykx.1_Non-coding_Transcript NM_016588 NP_057672 Q9NPD7 NRN1_HUMAN Homo sapiens neuritin 1 (NRN1), mRNA. 29 anchored to membrane|plasma membrane endometrium(2)|large_intestine(2)|lung(4) 8 Ovarian(93;0.0816) all_hematologic(90;0.151) OV - Ovarian serous cystadenocarcinoma(45;0.00415) TCGCACTTGCCCGCTGCTCTC 0.647000 41 5 0 0 1 0 0 OR4D1 26689 broad.mit.edu 37 17 56232607 56232607 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:56232607C>T uc010wno.2 + 0 93 c.93C>T c.(91-93)ttC>ttT p.F31F MSX2P1_uc002ivn.3_5'Flank NM_012374 NP_036506 Q15615 OR4D1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA. 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 TCCTTCTGTTCCTGTTAGTCT 0.458000 130 24 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103908950 103908950 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:103908950C>T uc001kum.3 + 12 4794 c.4755C>T c.(4753-4755)ttC>ttT p.F1585F PPRC1_uc001kun.3_Silent_p.F1463F|PPRC1_uc010qqj.2_Silent_p.F1321F|PPRC1_uc009xxa.3_Non-coding_Transcript|NOLC1_uc001kuo.2_5'Flank|NOLC1_uc001kup.2_5'Flank|NOLC1_uc001kuq.2_5'Flank|NOLC1_uc009xxb.1_5'Flank|NOLC1_uc001kur.2_5'Flank NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA. 1585 RRM. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|nucleotide binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) ACTACGGCTTCGTCACTTATC 0.572000 84 6 0 0 1 0 0 ADAD1 132612 broad.mit.edu 37 4 123302238 123302238 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:123302238G>A uc003ieo.3 + 3 496 c.264G>A c.(262-264)atG>atA p.M88I ADAD1_uc003iep.3_Missense_Mutation_p.M88I|ADAD1_uc003ieq.3_Missense_Mutation_p.M70I NM_139243 NP_001152767 Q96M93 ADAD1_HUMAN Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA. 88 RNA processing|multicellular organismal development nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 AATTTATAATGAAATACAAAC 0.388000 59 14 0 0 1 0 0 AK094599 0 broad.mit.edu 37 2 133066857 133066857 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:133066857C>T uc002ttk.1 + 1 c.56C>T Homo sapiens cDNA FLJ37280 fis, clone BRAMY2012881. TTCCAGAATCCTGCCCTTTCC 0.368000 77 4 0 0 1 0 0 GOLM1 51280 broad.mit.edu 37 9 88692472 88692472 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:88692472C>T uc004aol.3 - 2 370 c.164G>A c.(163-165)aGg>aAg p.R55K GOLM1_uc010mqd.1_Non-coding_Transcript|GOLM1_uc004aom.3_Missense_Mutation_p.R55K NM_016548 NP_808800 Q8NBJ4 GOLM1_HUMAN Homo sapiens golgi membrane protein 1 (GOLM1), transcript variant 1, mRNA. 55 Golgi apparatus|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 TGCAGCCGCCCTGCGGACCCT 0.607000 69 4 0 0 1 0 0 FAM100B 283991 broad.mit.edu 37 17 74266362 74266362 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:74266362C>T uc010wsy.1 + 2 572 c.271C>T c.(271-273)Ctg>Ttg p.L91L NM_182565 NP_872371 Q8IYN6 F100B_HUMAN Homo sapiens family with sequence similarity 100, member B (FAM100B), mRNA. 91 central_nervous_system(1)|lung(1) 2 LUSC - Lung squamous cell carcinoma(166;0.187) CTCCGAGGGCCTGCAGAGCAG 0.682000 27 6 0 0 1 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182872245 182872245 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:182872245C>T uc001gpu.3 - 8 1924 c.1639G>A c.(1639-1641)Gaa>Aaa p.E547K SHCBP1L_uc001gpv.3_Missense_Mutation_p.E428K|SHCBP1L_uc010pnz.2_Missense_Mutation_p.E405K|SHCBP1L_uc001gpw.3_Missense_Mutation_p.E267K NM_030933 NP_112195 Q9BZQ2 SHP1L_HUMAN Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA. 619 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 TGATGAATTTCATTTCTTTCC 0.333000 87 13 0 0 1 0 0 ASPHD1 253982 broad.mit.edu 37 16 29913023 29913023 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:29913023C>T uc002dut.3 + 0 877 c.731C>T c.(730-732)cCt>cTt p.P244L BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript NM_181718 NP_859069 Q5U4P2 ASPH1_HUMAN Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA. 244 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 TGGTCCCCACCTCTGGCCCCC 0.692000 42 10 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89391210 89391210 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:89391210A>T uc010upo.1 + 8 2047 c.1673A>T c.(1672-1674)tAt>tTt p.Y558F ACAN_uc002bmx.3_Missense_Mutation_p.Y558F|ACAN_uc010upp.1_Missense_Mutation_p.Y558F|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 558 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GTCAGGACCTATGGCGTGCGC 0.567000 104 14 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59157822 59157822 + Silent SNP C T T rs147796041 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:59157822C>T uc010dps.1 + 0 188 c.36C>T c.(34-36)aaC>aaT p.N12N CDH20_uc002lif.2_Silent_p.N6N NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN Homo sapiens cadherin 20, type 2 (CDH20), mRNA. 12 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) ATGCAAAGAACTGGCTTGGAC 0.468000 72 6 0 0 1 0 0 HR 55806 broad.mit.edu 37 8 21985022 21985022 + Silent SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:21985022T>C uc003xas.3 - 2 1598 c.933A>G c.(931-933)acA>acG p.T311T HR_uc003xat.3_Silent_p.T311T NM_005144 NP_005135 O43593 HAIR_HUMAN Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA. 311 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GGCACCTTGGTGTTGCTGGTG 0.647000 28 3 0 0 1 0 0 DNAJB8 165721 broad.mit.edu 37 3 128181764 128181764 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:128181764G>A uc003ekk.1 - 2 1986 c.325C>T c.(325-327)Cct>Tct p.P109S DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.P109S NM_153330 NP_699161 Q8NHS0 DNJB8_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA. 109 protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) AAGGAGAAAGGGTCCAGGCCA 0.612000 40 4 0 0 1 0 0 SIN3B 23309 broad.mit.edu 37 19 16977262 16977262 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:16977262G>A uc002ney.2 + 12 1820 c.1797G>A c.(1795-1797)gcG>gcA p.A599A SIN3B_uc002nez.2_Silent_p.A567A|SIN3B_uc010xpi.1_Silent_p.A157A NM_015260 NP_056075 O75182 SIN3B_HUMAN Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA. 599 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 ATGAGAAGGCGTACCTCAAGT 0.592000 52 13 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70541910 70541910 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:70541910G>A uc003xyg.2 + 17 2841 c.2280G>A c.(2278-2280)tgG>tgA p.W760* SULF1_uc010lza.1_Nonsense_Mutation_p.W760*|SULF1_uc003xyd.2_Nonsense_Mutation_p.W760*|SULF1_uc003xye.2_Nonsense_Mutation_p.W760*|SULF1_uc003xyf.2_Nonsense_Mutation_p.W760*|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_5'UTR NM_001128206 NP_055985 Q8IWU6 SULF1_HUMAN Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA. 760 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway Golgi stack|cell surface|endoplasmic reticulum|extracellular space arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CCCCGTTCTGGAACCGTAAGT 0.517000 110 20 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72055996 72055996 + Silent SNP G A A rs143924269 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:72055996G>A uc004ahh.2 - 10 2493 c.2217C>T c.(2215-2217)atC>atT p.I739I NM_001163 NP_001154 Q02410 APBA1_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA. 739 PDZ 1. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GACATCTCACGATATTCAGCT 0.458000 59 10 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76496520 76496520 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:76496520G>A uc010dhp.2 - 35 5632 c.5507C>T c.(5506-5508)tCc>tTc p.S1836F AK127460_uc002jvt.1_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GAGATGGAGGGACTGGGTCAG 0.597000 12 7 0 0 1 0 0 MAP4K1 11184 broad.mit.edu 37 19 39090569 39090569 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:39090569G>A uc002oix.1 - 21 1773 c.1665C>T c.(1663-1665)ctC>ctT p.L555L MAP4K1_uc002oiy.1_Silent_p.L555L|MAP4K1_uc010xug.2_Intron NM_007181 NP_009112 Q92918 M4K1_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA. 555 CNH. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity p.L555L(3) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCAGACCTGAGAGAGACATGA 0.562000 120 17 0 0 1 0 0 GUCA2B 2981 broad.mit.edu 37 1 42620505 42620505 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:42620505C>T uc001chc.1 + 1 275 c.245C>T c.(244-246)tCg>tTg p.S82L NM_007102 NP_009033 Q16661 GUC2B_HUMAN Homo sapiens guanylate cyclase activator 2B (uroguanylin) (GUCA2B), mRNA. 82 excretion extracellular region calcium sensitive guanylate cyclase activator activity p.A81T(1) breast(1)|large_intestine(2) 3 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GTCTGCGCCTCGCAGGAGGCT 0.682000 56 4 0 0 1 0 0 MAP6 4135 broad.mit.edu 37 11 75298625 75298625 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:75298625G>A uc001owu.3 - 3 1986 c.1921C>T c.(1921-1923)Ccc>Tcc p.P641S NM_033063 NP_149052 Q96JE9 MAP6_HUMAN Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA. 641 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) GGGACCATGGGATCTTGATCC 0.512000 107 12 0 0 1 0 0 CYP17A1 1586 broad.mit.edu 37 10 104594763 104594763 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:104594763C>T uc001kwg.3 - 2 617 c.445G>A c.(445-447)Gaa>Aaa p.E149K NM_000102 NP_000093 P05093 CP17A_HUMAN Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA. 149 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) GTACTGATTTCCTGACAAACT 0.517000 OREG0020487 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 7 0 0 1 0 0 ACMSD 130013 broad.mit.edu 37 2 135621048 135621048 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:135621048C>T uc002ttz.3 + 4 400 c.333C>T c.(331-333)ttC>ttT p.F111F ACMSD_uc002tua.3_Silent_p.F53F NM_138326 NP_612199 Q8TDX5 ACMSD_HUMAN Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA. 111 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) CCAGGAGGTTCGTGGGTCTGG 0.577000 68 5 0 0 1 0 0 PER2 8864 broad.mit.edu 37 2 239169517 239169517 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:239169517G>A uc002vyc.3 - 12 1731 c.1494C>T c.(1492-1494)acC>acT p.T498T PER2_uc010znv.1_Silent_p.T498T NM_022817 NP_073728 O15055 PER2_HUMAN Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA. 498 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) CGCTGGAGGAGGTCTGGCTCA 0.622000 210 32 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15355236 15355236 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:15355236G>A uc002nar.3 - 12 2609 c.2387C>T c.(2386-2388)tCg>tTg p.S796L NM_058243 NP_490597 O60885 BRD4_HUMAN Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA. 796 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GGGTGGGGGCGAGGACTTCAT 0.711000 T C15orf55 lethal midline carcinoma of young people 27 11 0 0 1 0 0 C1orf158 93190 broad.mit.edu 37 1 12819315 12819315 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:12819315G>A uc001auh.3 + 2 514 c.298G>A c.(298-300)Gac>Aac p.D100N C1orf158_uc010obe.1_Missense_Mutation_p.D100N NM_152290 NP_689503 Q8N1D5 CA158_HUMAN Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA. 100 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) CACCTATGACGACCATTACAA 0.567000 121 22 0 0 1 0 0 KIF19 124602 broad.mit.edu 37 17 72346604 72346604 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:72346604C>T uc002jkm.4 + 10 1416 c.1278C>T c.(1276-1278)ctC>ctT p.L426L KIF19_uc002jkj.2_Silent_p.L426L|KIF19_uc002jkk.2_Silent_p.L384L|KIF19_uc002jkl.2_Silent_p.L384L NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN Homo sapiens kinesin family member 19 (KIF19), mRNA. 426 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 GGGAGCAGCTCGCCAGCGCCT 0.657000 21 5 0 0 1 0 0 FAM70A 55026 broad.mit.edu 37 X 119410842 119410842 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:119410842G>A uc004eso.4 - 7 872 c.645C>T c.(643-645)atC>atT p.I215I FAM70A_uc004esp.4_Silent_p.I191I|FAM70A_uc010nqo.3_Intron NM_017938 NP_060408 Q5JRV8 FA70A_HUMAN Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA. 215 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2) 19 AGAGGTGGATGATATCTTGGC 0.557000 29 17 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76754664 76754664 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:76754664G>A uc002lmt.3 + 1 2673 c.2673G>A c.(2671-2673)gcG>gcA p.A891A SALL3_uc010dra.3_Silent_p.A498A NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 891 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GCCGCAGCGCGGGCAGCCCCG 0.726000 28 9 0 0 1 0 0 SAMD4A 23034 broad.mit.edu 37 14 55034644 55034644 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:55034644C>T uc001xbb.3 + 0 315 c.7C>T c.(7-9)Cgc>Tgc p.R3C SAMD4A_uc001xba.3_Missense_Mutation_p.R4C|SAMD4A_uc001xbc.3_Missense_Mutation_p.R4C NM_015589 NP_056404 Q9UPU9 SMAG1_HUMAN Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA. 4 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 CATGATGTTTCGCGACCAGGT 0.701000 64 5 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43903465 43903465 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:43903465C>T uc001cjk.2 + 44 6313 c.3703C>T c.(3703-3705)Cct>Tct p.P1235S NM_015284 NP_056099 Q5T011 SZT2_HUMAN Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA. 2134 peroxisome p.P1235S(3) NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CCTGTAGGGTCCTCGTTCTCC 0.567000 138 15 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149240855 149240855 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:149240855C>T uc002twm.4 + 9 3692 c.2695C>T c.(2695-2697)Cat>Tat p.H899Y MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_5'Flank|MBD5_uc002twp.3_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA. 899 chromosome|nucleus DNA binding|chromatin binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) GCACGCACTTCATTTTCCATC 0.498000 49 6 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64547343 64547343 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:64547343C>T uc001xgl.3 + 55 11563 c.11333C>T c.(11332-11334)tCa>tTa p.S3778L SYNE2_uc001xgm.3_Missense_Mutation_p.S3778L|SYNE2_uc021ruh.1_Missense_Mutation_p.S3811L|SYNE2_uc010apy.3_Missense_Mutation_p.S140L|SYNE2_uc010apx.1_Missense_Mutation_p.S170L NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 3778 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding p.S3778A(1) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGTAGAACCTCACAGTTGAAT 0.413000 41 6 0 0 1 0 0 BTN3A1 11119 broad.mit.edu 37 6 26413817 26413817 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:26413817C>T uc003nhv.3 + 9 1807 c.1439C>T c.(1438-1440)tCg>tTg p.S480L BTN3A1_uc011dkj.2_3'UTR|BTN3A1_uc010jqj.3_3'UTR|BTN3A1_uc011dkk.2_Missense_Mutation_p.S428L NM_007048 NP_008979 O00481 BT3A1_HUMAN Homo sapiens butyrophilin, subfamily 3, member A1 (BTN3A1), transcript variant 1, mRNA. 480 B30.2/SPRY. lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 GTGGATGGATCGCATATTCAT 0.483000 80 8 0 0 1 0 0 APTX 54840 broad.mit.edu 37 9 32984776 32984776 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:32984776G>A uc003zry.3 - 5 702 c.665C>T c.(664-666)aCc>aTc p.T222I APTX_uc022bfi.1_Missense_Mutation_p.T208I|APTX_uc003zrm.3_Missense_Mutation_p.T208I|APTX_uc003zrj.3_Missense_Mutation_p.T120I|APTX_uc003zrl.3_Missense_Mutation_p.T29I|APTX_uc011lns.2_Missense_Mutation_p.T29I|APTX_uc003zrn.3_Missense_Mutation_p.T120I|APTX_uc003zro.3_Missense_Mutation_p.T208I|APTX_uc003zrp.3_Missense_Mutation_p.T120I|APTX_uc003zrr.3_Missense_Mutation_p.T154I|APTX_uc003zrq.3_Missense_Mutation_p.T120I|APTX_uc003zrs.3_Missense_Mutation_p.T208I|APTX_uc003zsb.2_Missense_Mutation_p.T29I|APTX_uc003zru.3_Missense_Mutation_p.T168I|APTX_uc022bfj.1_Missense_Mutation_p.T222I|APTX_uc003zrx.3_Missense_Mutation_p.T208I|APTX_uc003zrw.3_Missense_Mutation_p.T150I|APTX_uc003zrv.3_Missense_Mutation_p.T222I|APTX_uc003zrt.3_Missense_Mutation_p.T120I|APTX_uc003zsa.1_Missense_Mutation_p.T154I|APTX_uc003zsc.2_Non-coding_Transcript NM_001195248 NP_001182177 Q7Z2E3 APTX_HUMAN Homo sapiens aprataxin (APTX), transcript variant 6, mRNA. 222 HIT. cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair chromatin|nucleolus|nucleoplasm DNA 5'-adenosine monophosphate hydrolase activity|chromatin binding|damaged DNA binding|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding endometrium(1)|lung(1)|ovary(2)|prostate(2) 6 LUSC - Lung squamous cell carcinoma(29;0.0302) GBM - Glioblastoma multiforme(74;0.105) GGAAATGGAGGTCCACGGTAA 0.488000 Editing and processing nucleases 39 10 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107433709 107433709 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:107433709C>T uc004enw.4 - 19 1445 c.1342G>A c.(1342-1344)Gaa>Aaa p.E448K COL4A6_uc004env.4_Missense_Mutation_p.E447K|COL4A6_uc011msn.2_Missense_Mutation_p.E447K|COL4A6_uc010npk.3_Missense_Mutation_p.E447K NM_001847 NP_001838 Q14031 CO4A6_HUMAN Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA. 448 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TGTAGAGTTTCAGTCTCAAAT 0.433000 Alport syndrome with Diffuse Leiomyomatosis 9 4 0 0 1 0 0 ARID4A 5926 broad.mit.edu 37 14 58831239 58831239 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:58831239C>T uc001xdp.3 + 19 2686 c.2432C>T c.(2431-2433)tCa>tTa p.S811L ARID4A_uc001xdo.3_Missense_Mutation_p.S811L|ARID4A_uc001xdq.3_Missense_Mutation_p.S811L|ARID4A_uc010apg.1_Missense_Mutation_p.S489L NM_002892 NP_002883 P29374 ARI4A_HUMAN Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA. 811 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AAGATTTCATCATTTGGCCAG 0.333000 21 5 0 0 1 0 0 WIPI1 55062 broad.mit.edu 37 17 66446943 66446943 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:66446943G>A uc010dey.3 - 2 350 c.259C>T c.(259-261)Cac>Tac p.H87Y WIPI1_uc010wqo.2_Missense_Mutation_p.H5Y NM_017983 NP_060453 Q5MNZ9 WIPI1_HUMAN Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA. 87 macroautophagy|vesicle targeting, trans-Golgi to endosome PAS complex|autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 18 TTCTTGAAGTGATACACGTTC 0.507000 139 9 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161116309 161116309 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:161116309G>A uc003lyu.2 + 4 834 c.496G>A c.(496-498)Gat>Aat p.D166N GABRA6_uc003lyv.2_5'Flank NM_000811 NP_000802 Q16445 GBRA6_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA. 166 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTTTCCTATGGATGGGCATGC 0.378000 TCGA Ovarian(5;0.080) 57 5 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118628633 118628633 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:118628633C>T uc001ehk.2 - 12 1742 c.1674G>A c.(1672-1674)tgG>tgA p.W558* NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 558 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GAAGAAATTCCCACAGTGGCA 0.423000 31 8 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9528648 9528648 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:9528648C>T uc002qzh.2 + 21 2696 c.2356C>T c.(2356-2358)Ccg>Tcg p.P786S ASAP2_uc002qzi.2_Missense_Mutation_p.P786S NM_003887 NP_003878 O43150 ASAP2_HUMAN Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA. 786 Pro-rich. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 CAGCGCCCCCCCGCTTCCTCC 0.577000 36 7 0 0 1 0 0 LRSAM1 90678 broad.mit.edu 37 9 130219603 130219603 + Silent SNP C T T rs113869335 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:130219603C>T uc004brb.2 + 5 555 c.183C>T c.(181-183)atC>atT p.I61I LRSAM1_uc010mxk.2_Silent_p.I61I|LRSAM1_uc004brc.2_Silent_p.I61I|LRSAM1_uc004brd.2_Silent_p.I61I NM_001005373 NP_612370 Q6UWE0 LRSM1_HUMAN Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA. 61 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 AGGTGCTGATCGTCCACACGA 0.642000 34 5 0 0 1 0 0 DLGAP4 22839 broad.mit.edu 37 20 35061005 35061005 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:35061005C>T uc002xff.3 + 2 1320 c.885C>T c.(883-885)tcC>tcT p.S295S DLGAP4_uc010zvp.2_Silent_p.S295S NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA. 295 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) GCTCCTGGTCCACTCTGACCC 0.647000 24 4 0 0 1 0 0 TBC1D17 79735 broad.mit.edu 37 19 50385350 50385350 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:50385350C>T uc002pqo.3 + 5 879 c.580C>T c.(580-582)Ctc>Ttc p.L194F TBC1D17_uc010enn.2_Non-coding_Transcript|TBC1D17_uc010ybg.2_Missense_Mutation_p.L161F|TBC1D17_uc002pqp.3_5'UTR|TBC1D17_uc002pqr.3_5'UTR NM_024682 NP_078958 Q9HA65 TBC17_HUMAN Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA. 194 intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CTCCTCTGCTCTCTCCAACTC 0.647000 248 37 0 0 1 0 0 BANF2 140836 broad.mit.edu 37 20 17716310 17716310 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:17716310G>A uc010zrs.1 + 3 162 c.148_splice c.e3-1 p.A50_splice BANF2_uc002wqa.2_Splice_Site_p.A43_splice|BANF2_uc002wpz.2_Splice_Site_p.A43_splice NM_001159495 NP_848572 Q9H503 BAFL_HUMAN Homo sapiens barrier to autointegration factor 2 (BANF2), transcript variant 3, mRNA. 43 cytoplasm|nucleus DNA binding large_intestine(1)|lung(1)|prostate(3)|skin(1) 6 CCCTCCCCAGGCCTACATCCT 0.537000 64 18 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281415 152281415 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152281415C>T uc001ezu.1 - 2 5983 c.5947G>A c.(5947-5949)Gag>Aag p.E1983K NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1983 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.T1982K(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGGAAGACTCTGTGTGACGA 0.572000 Ichthyosis 488 26 0 0 1 0 0 EML3 256364 broad.mit.edu 37 11 62376927 62376927 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:62376927G>A uc010rly.1 - 5 965 c.657C>T c.(655-657)ttC>ttT p.F219F EML3_uc001ntr.1_Silent_p.F191F|EML3_uc001nts.1_Silent_p.F191F|EML3_uc001ntt.1_Silent_p.F103F|EML3_uc001ntu.1_Silent_p.F219F|EML3_uc009yny.1_Silent_p.F2F Q32P44 EMAL3_HUMAN Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA. 219 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GCCCTCGAAGGAACATCTTCA 0.582000 101 23 0 0 1 0 0 PRKCH 5583 broad.mit.edu 37 14 61917660 61917660 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:61917660G>A uc001xfn.3 + 5 1108 c.803G>A c.(802-804)gGa>gAa p.G268E PRKCH_uc010tsa.2_Missense_Mutation_p.G107E NM_006255 NP_006246 P24723 KPCL_HUMAN Homo sapiens protein kinase C, eta (PRKCH), mRNA. 268 intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) CTGCTCTGGGGAATAATGCGA 0.483000 40 6 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81536910 81536910 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:81536910C>T uc001szl.1 + 4 896 c.805C>T c.(805-807)Cgt>Tgt p.R269C ACSS3_uc001szm.1_Missense_Mutation_p.R268C NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA. 269 mitochondrion ATP binding|acetate-CoA ligase activity p.G268D(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GGCTCCCGGTCGTGACCTTGA 0.408000 31 4 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38917673 38917673 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:38917673G>A uc003jln.2 + 9 1713 c.1311G>A c.(1309-1311)tgG>tgA p.W437* OSMR_uc011cpj.2_5'UTR NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 437 Fibronectin type-III 2. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) CTGATGTCTGGAGAATTGTGA 0.403000 59 4 0 0 1 0 0 MIER2 54531 broad.mit.edu 37 19 327146 327146 + Silent SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:327146A>T uc002lok.1 - 4 489 c.480T>A c.(478-480)ccT>ccA p.P160P NM_017550 NP_060020 Q8N344 MIER2_HUMAN Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA. 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACTCCGGTTAGGGAAGAGGT 0.597000 105 23 0 0 1 0 0 CLCN6 1185 broad.mit.edu 37 1 11883832 11883832 + Silent SNP C T T rs147734059 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:11883832C>T uc001ate.4 + 6 635 c.522C>T c.(520-522)atC>atT p.I174I CLCN6_uc009vnf.1_Silent_p.I174I|CLCN6_uc009vng.1_Silent_p.I174I|CLCN6_uc009vnh.1_Silent_p.I174I|CLCN6_uc010oat.2_5'UTR|CLCN6_uc010oau.2_Silent_p.I152I NM_001286 NP_001277 P51797 CLCN6_HUMAN Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA. 174 cell volume homeostasis|signal transduction endosome membrane|integral to membrane ATP binding|antiporter activity|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TGCCAGGAATCGTCCGTCTCC 0.552000 70 8 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2123808 2123808 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:2123808C>T uc003zhc.3 + 26 3951 c.3852C>T c.(3850-3852)atC>atT p.I1284I SMARCA2_uc003zhd.3_Silent_p.I1284I|SMARCA2_uc010mha.3_Silent_p.I1217I NM_003070 NP_003061 P51531 SMCA2_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA. 1284 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding p.D1284G(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CCTCCTGGATCATTAAGGATG 0.567000 20 4 0 0 1 0 0 NAT1 9 broad.mit.edu 37 8 18079796 18079796 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:18079796C>T uc010ltd.3 + 4 607 c.240C>T c.(238-240)acC>acT p.T80T NAT1_uc003wyt.3_Silent_p.T142T|NAT1_uc003wyu.3_Silent_p.T80T|NAT1_uc003wyv.3_Silent_p.T80T|NAT1_uc010ltc.3_Silent_p.T80T|NAT1_uc003wys.3_Silent_p.T142T|NAT1_uc003wyr.3_Silent_p.T80T|NAT1_uc003wyq.3_Silent_p.T80T|NAT1_uc011kyl.2_Silent_p.T80T NM_001160179 NP_001153651 P18440 ARY1_HUMAN Homo sapiens N-acetyltransferase 1 (arylamine N-acetyltransferase) (NAT1), transcript variant 9, mRNA. 80 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1) 9 Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208) GGGCTCTGACCACTATTGGTT 0.478000 57 4 0 0 1 0 0 TARS 6897 broad.mit.edu 37 5 33458688 33458688 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:33458688C>T uc003jhy.3 + 9 1297 c.1002C>T c.(1000-1002)ttC>ttT p.F334F TARS_uc010iup.1_Silent_p.F275F|TARS_uc011coc.2_Silent_p.F355F|TARS_uc003jhz.3_Silent_p.F230F|TARS_uc011cod.2_Silent_p.F213F NM_152295 NP_689508 P26639 SYTC_HUMAN Homo sapiens threonyl-tRNA synthetase (TARS), mRNA. 334 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) AACTATATTTCTTTCATGAAC 0.338000 29 7 0 0 1 0 0 INPP5B 3633 broad.mit.edu 37 1 38353980 38353980 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:38353980G>A uc001ccf.1 - 3 379 c.342C>T c.(340-342)tcC>tcT p.S114S INPP5B_uc009vvk.1_Silent_p.S219S|INPP5B_uc001ccg.1_Silent_p.S278S|INPP5B_uc010oij.1_Non-coding_Transcript NM_005540 NP_005531 P32019 I5P2_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA. 358 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding p.S113L(1) breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ATTCTTTGGGGGACTGCCCAT 0.468000 62 9 0 0 1 0 0 HSPA12B 116835 broad.mit.edu 37 20 3722937 3722937 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:3722937G>A uc002wjd.3 + 3 290 c.148G>A c.(148-150)Gag>Aag p.E50K HSPA12B_uc010zqj.2_Intron|HSPA12B_uc010zqi.2_Missense_Mutation_p.E50K|HSPA12B_uc002wje.3_5'UTR NM_052970 NP_443202 Q96MM6 HS12B_HUMAN Homo sapiens heat shock 70kD protein 12B (HSPA12B), transcript variant 1, mRNA. 50 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 GCAGAAACCCGAGGTCCGAGC 0.587000 49 5 0 0 1 0 0 INTS6 26512 broad.mit.edu 37 13 51952473 51952473 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:51952473G>A uc001vfk.3 - 11 2118 c.1504C>T c.(1504-1506)Caa>Taa p.Q502* INTS6_uc001vfi.3_Nonsense_Mutation_p.Q186*|INTS6_uc001vfj.3_Nonsense_Mutation_p.Q489*|INTS6_uc001vfl.3_Nonsense_Mutation_p.Q324* NM_012141 NP_001035026 Q9UL03 INT6_HUMAN Homo sapiens integrator complex subunit 6 (INTS6), transcript variant 1, mRNA. 502 snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) AGGAGTTGTTGAAAATCTTTC 0.423000 42 7 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21030819 21030819 + Missense_Mutation SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:21030819T>C uc010sil.2 + 7 1149 c.1084T>C c.(1084-1086)Tat>Cat p.Y362H SLCO1B3_uc001rek.3_Missense_Mutation_p.Y362H|SLCO1B3_uc001rel.3_Missense_Mutation_p.Y362H|SLCO1B3_uc010sim.2_Intron Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 362 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) CGTCTTTAAATATATGGAGCA 0.348000 16 6 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20493436 20493436 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:20493436C>T uc003gpr.1 + 8 1032 c.828C>T c.(826-828)gcC>gcT p.A276A SLIT2_uc003gps.1_Silent_p.A276A NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 276 LRRNT 2. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding p.A276T(1) NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GCCCTGCCGCCTGTACCTGTA 0.418000 42 7 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48605530 48605530 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:48605530C>T uc003ctz.2 - 104 7869 c.7868G>A c.(7867-7869)gGc>gAc p.G2623D NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 2623 Triple-helical region. G -> C (in PR-DEB; dominant). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity p.R2622L(1) NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TACCTTGAGGCCCCGGGGACC 0.537000 56 15 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100210314 100210314 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:100210314G>A uc002taf.3 - 13 2028 c.1884C>T c.(1882-1884)caC>caT p.H628H AFF3_uc002tag.3_Silent_p.H603H|AFF3_uc010fiq.1_Silent_p.H603H|AFF3_uc010yvr.1_Silent_p.H756H|AFF3_uc002tah.1_Silent_p.H628H NM_001025108 NP_001020279 P51826 AFF3_HUMAN Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA. 603 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 CCTCGGGCCGGTGGCAGTTGG 0.761000 13 7 0 0 1 0 0 ARHGEF16 27237 broad.mit.edu 37 1 3396452 3396453 + Missense_Mutation DNP GG CA CA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:3396452_3396453GG>CA uc001akg.4 + 13 2213_2214 c.1965_1966GG>CA c.(1963-1968)gtggtc>gtCAtc p.V656I ARHGEF16_uc001aki.3_Missense_Mutation_p.V368I|ARHGEF16_uc001akj.3_Missense_Mutation_p.V368I|ARHGEF16_uc010nzh.2_Missense_Mutation_p.V360I NM_014448 NP_055263 Q5VV41 ARHGG_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA. 656 SH3. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) AGGCGGACGTGGTCCTGGTTCT 0.639000 67 6 0 0 1 0 0 AFM 173 broad.mit.edu 37 4 74351735 74351735 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:74351735G>A uc003hhb.3 + 3 458 c.427G>A c.(427-429)Gat>Aat p.D143N NM_001133 NP_001124 P43652 AFAM_HUMAN Homo sapiens afamin (AFM), mRNA. 143 Albumin 1. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CCCTACCCTGGATCCCGAAGA 0.383000 20 6 0 0 1 0 0 SLC22A7 10864 broad.mit.edu 37 6 43269367 43269367 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:43269367C>T uc021yzt.1 + 6 1097 c.998C>T c.(997-999)tCa>tTa p.S333L SLC22A7_uc010jyl.1_Missense_Mutation_p.S334L|SLC22A7_uc003ous.3_Missense_Mutation_p.S331L|SLC22A7_uc003out.3_Missense_Mutation_p.S331L NM_153320 NP_696961 Q9Y694 S22A7_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA. 333 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) CGAAGACCTTCATACCTAGAC 0.582000 33 5 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97770803 97770803 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:97770803C>T uc003upd.2 + 2 619 c.326C>T c.(325-327)tCa>tTa p.S109L NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA. 109 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TTCACACTTTCAGTACCAAAT 0.428000 89 9 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36898910 36898910 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:36898910C>T uc003cgj.3 - 11 2419 c.2171G>A c.(2170-2172)gGa>gAa p.G724E NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 724 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 ATCTTTCTTTCCTTCTTTGCC 0.562000 30 4 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3241724 3241724 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:3241724C>T uc004crg.4 - 4 2159 c.2002G>A c.(2002-2004)Gtg>Atg p.V668M NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 668 Ig-like C2-type 2. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TTCTTGGTCACTGTGATTCCC 0.522000 29 6 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027702 37027702 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:37027702C>T uc004ddl.2 + 0 1271 c.1219C>T c.(1219-1221)Ccc>Tcc p.P407S NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 407 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CCCGGAGCCTCCCAAGACTCG 0.607000 26 9 0 0 1 0 0 BCL6 604 broad.mit.edu 37 3 187442854 187442854 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:187442854G>A uc003frp.3 - 8 2309 c.1852C>T c.(1852-1854)Cgt>Tgt p.R618C LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.R562C|BCL6_uc010hza.2_Missense_Mutation_p.R516C|BCL6_uc003frq.2_Missense_Mutation_p.R618C NM_001130845 NP_001697 P41182 BCL6_HUMAN Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA. 618 negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) ACATGGGCACGGAGGTGGGCC 0.587000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 59 12 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61528027 61528027 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:61528027G>A uc002ydr.2 - 6 2222 c.1910C>T c.(1909-1911)gCc>gTc p.A637V DIDO1_uc002yds.2_Missense_Mutation_p.A637V|DIDO1_uc002ydt.2_Missense_Mutation_p.A637V|DIDO1_uc002ydu.2_Missense_Mutation_p.A637V NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 637 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CTTCCTTACGGCTCCCACCAA 0.617000 81 14 0 0 1 0 0 SURF2 6835 broad.mit.edu 37 9 136227982 136227982 + Silent SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:136227982C>A uc004cdi.2 + 5 786 c.738C>A c.(736-738)ccC>ccA p.P246P NM_017503 NP_059973 Q15527 SURF2_HUMAN Homo sapiens surfeit 2 (SURF2), mRNA. 246 protein binding p.P246P(2) breast(1)|large_intestine(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05) ACCGCAAACCCAAGAGCTTCA 0.458000 153 5 1 1 1 1 0 EGFLAM 133584 broad.mit.edu 37 5 38352428 38352428 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:38352428C>T uc003jlc.2 + 4 886 c.540C>T c.(538-540)ttC>ttT p.F180F EGFLAM_uc003jlb.2_Silent_p.F180F NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 180 Fibronectin type-III 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) CTGTGGAATTCATCAGGTAAG 0.522000 89 6 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44079892 44079892 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:44079892C>T uc002rtq.3 + 5 939 c.849C>T c.(847-849)gtC>gtT p.V283V ABCG8_uc010yoa.2_Silent_p.V283V NM_022437 NP_071882 Q9H221 ABCG8_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA. 283 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTGATCTGGTCCTCCTGATGA 0.587000 471 33 0 0 1 0 0 WNT2 7472 broad.mit.edu 37 7 116955324 116955324 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:116955324C>T uc003viz.3 - 2 689 c.389G>A c.(388-390)gGa>gAa p.G130E WNT2_uc003vja.3_Missense_Mutation_p.G34E NM_003391 NP_003382 P09544 WNT2_HUMAN Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA. 130 Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) TTTTACTTCTCCTTGGCTACA 0.453000 27 4 0 0 1 0 0 LOC100128164 100128164 broad.mit.edu 37 3 169664007 169664007 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:169664007C>T uc011bpp.2 - 1 c.3796G>A Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA. CAGGGCTCATCCTAGTAAGTG 0.502000 47 5 0 0 1 0 0 IL18R1 8809 broad.mit.edu 37 2 103006655 103006655 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:103006655G>A uc002tbw.4 + 8 1239 c.1089G>A c.(1087-1089)acG>acA p.T363T IL18R1_uc010ywd.2_Silent_p.T207T|IL18R1_uc010fiy.3_Silent_p.T363T|IL18R1_uc010ywc.2_Silent_p.T362T NM_003855 NP_003846 Q13478 IL18R_HUMAN Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA. 363 innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GACATTTAACGAGAAGAGATG 0.333000 45 9 0 0 1 0 0 FOXN1 8456 broad.mit.edu 37 17 26864335 26864335 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:26864335G>A uc010crm.3 + 8 2026 c.1828G>A c.(1828-1830)Gac>Aac p.D610N FOXN1_uc002hbj.3_Missense_Mutation_p.D610N NM_003593 NP_003584 O15353 FOXN1_HUMAN Homo sapiens forkhead box N1 (FOXN1), mRNA. 610 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) GGCACTGGGTGACCTGCACCT 0.677000 34 7 0 0 1 0 0 C20orf118 140711 broad.mit.edu 37 20 35509089 35509089 + Missense_Mutation SNP G A A rs143460335 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:35509089G>A uc002xgg.1 + 3 382 c.374G>A c.(373-375)cGa>cAa p.R125Q C20orf118_uc021wcz.1_Missense_Mutation_p.R125Q NM_080628 NP_542195 A0PJX2 CT118_HUMAN Homo sapiens chromosome 20 open reading frame 118 (C20orf118), mRNA. 125 TLD. kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 9 Myeloproliferative disorder(115;0.00874) TCGGCTATCCGACTCAGCAAA 0.547000 110 11 0 0 1 0 0 CCR4 1233 broad.mit.edu 37 3 32995187 32995187 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:32995187C>T uc003cfg.1 + 1 441 c.273C>T c.(271-273)tcC>tcT p.S91S CCR4_uc021wuw.1_Silent_p.S91S NM_005508 NP_005499 P51679 CCR4_HUMAN Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA. 91 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane p.S91F(1) NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 TCGTGTTTTCCCTCCCTTTTT 0.507000 97 7 0 0 1 0 0 SERPINF1 5176 broad.mit.edu 37 17 1673174 1673174 + Missense_Mutation SNP C G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:1673174C>G uc002ftl.3 + 2 270 c.113C>G c.(112-114)gCg>gGg p.A38G NM_002615 NP_002606 P36955 PEDF_HUMAN Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 (SERPINF1), mRNA. 38 cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis extracellular space|melanosome serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 16 AGCACAGGGGCGCTGGTGGAG 0.607000 93 9 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108107858 108107858 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:108107858C>T uc003dxa.1 - 38 5611 c.5554G>A c.(5554-5556)Gcc>Acc p.A1852T NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 1852 myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 AGTCTGCGGGCTCCCCTCTGG 0.552000 31 5 0 0 1 0 0 CEACAM1 634 broad.mit.edu 37 19 43026158 43026158 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:43026158C>T uc002otv.3 - 2 756 c.621G>A c.(619-621)agG>agA p.R207R AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Non-coding_Transcript|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eii.3_5'Flank|CEACAM1_uc010eij.3_Silent_p.R207R|CEACAM1_uc002otw.3_Silent_p.R207R|CEACAM1_uc002otx.3_Silent_p.R207R|CEACAM1_uc002oty.3_Silent_p.R207R|CEACAM1_uc002otz.3_Silent_p.R207R|CEACAM1_uc010eik.3_Intron|CEACAM1_uc002oua.3_Silent_p.R207R|CEACAM1_uc002oub.3_Silent_p.R207R|CEACAM1_uc002ouc.3_Silent_p.R207R NM_001712 NP_001703 P13688 CEAM1_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA. 207 Ig-like C2-type 1. angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) CTGTGTCATTCCTTGTGACAC 0.522000 159 26 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205901911 205901911 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:205901911G>A uc001hdp.3 - 3 409 c.295C>T c.(295-297)Cct>Tct p.P99S SLC26A9_uc001hdq.3_Missense_Mutation_p.P99S NM_134325 NP_599152 Q7LBE3 S26A9_HUMAN Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA. 99 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) TTGACTGCAGGAAGGTTGGCC 0.572000 39 7 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13708294 13708294 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:13708294C>T uc003jfd.2 - 75 13318 c.13276G>A c.(13276-13278)Gaa>Aaa p.E4426K DNAH5_uc003jfc.2_Missense_Mutation_p.E594K NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4426 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CGCAGATTTTCGCTCATGATG 0.463000 Kartagener syndrome 75 6 0 0 1 0 0 BRCA1 672 broad.mit.edu 37 17 41244925 41244925 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:41244925G>A uc002icq.3 - 9 2855 c.2623C>T c.(2623-2625)Cca>Tca p.P875S BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.P804S|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.P828S|BRCA1_uc002ict.3_Missense_Mutation_p.P875S|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.P875S|BRCA1_uc002ide.1_Missense_Mutation_p.P706S|BRCA1_uc010cyy.1_Missense_Mutation_p.P875S|BRCA1_uc010whs.1_Missense_Mutation_p.P875S|BRCA1_uc010cyz.2_Missense_Mutation_p.P828S|BRCA1_uc010cza.2_Missense_Mutation_p.P849S|BRCA1_uc010wht.1_Missense_Mutation_p.P579S NM_007294 NP_009228 P38398 BRCA1_HUMAN Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA. 875 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GCATTTCCTGGATTTGAAAAC 0.398000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 46 5 0 0 1 0 0 SRMS 6725 broad.mit.edu 37 20 62178692 62178692 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:62178692G>A uc002yfi.1 - 0 166 c.125C>T c.(124-126)cCc>cTc p.P42L NM_080823 NP_543013 Q9H3Y6 SRMS_HUMAN Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA. 42 ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1) 19 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GGGGAGCGTGGGCACTGGGTC 0.697000 8 3 0 0 1 0 0 RC3H2 54542 broad.mit.edu 37 9 125621201 125621201 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:125621201G>A uc010mwc.1 - 11 2271 c.2030C>T c.(2029-2031)cCg>cTg p.P677L RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.P677L|RC3H2_uc004bne.4_Missense_Mutation_p.P677L NM_001100588 NP_001094058 Q9HBD1 RC3H2_HUMAN Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA. 677 Pro-rich. cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 ATACGGCTGCGGAGGAGGAGG 0.537000 96 10 0 0 1 0 0 CRB3 92359 broad.mit.edu 37 19 6465617 6465617 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:6465617C>T uc002mez.3 + 2 340 c.144C>T c.(142-144)tcC>tcT p.S48S CRB3_uc002mey.3_Silent_p.S48S|CRB3_uc002mfa.3_Silent_p.S48S NM_174881 NP_777377 Q9BUF7 CRUM3_HUMAN Homo sapiens crumbs homolog 3 (Drosophila) (CRB3), transcript variant 3, mRNA. 48 protein localization in plasma membrane|tight junction assembly apical plasma membrane|integral to membrane|tight junction SH3 domain binding endometrium(1)|large_intestine(1)|lung(1) 3 GCTCCAGCTCCGATGGCAACC 0.498000 215 43 0 0 1 0 0 FAM75D1 389763 broad.mit.edu 37 9 84608299 84608299 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:84608299G>A uc004amn.3 + 3 2961 c.2914G>A c.(2914-2916)Gaa>Aaa p.E972K NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA. 972 integral to membrane cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 88 TTTTCAAGGAGAAAAGTTGGG 0.517000 72 17 0 0 1 0 0 MYO1H 283446 broad.mit.edu 37 12 109826556 109826556 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:109826556C>T uc010sxn.1 + 0 33 c.33C>T c.(31-33)gtC>gtT p.V11V NM_001101421 NP_001094891 B4DNW6 B4DNW6_HUMAN Homo sapiens myosin IH (MYO1H), mRNA. 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 GGGACAAGGTCGGGGTTCAGG 0.522000 132 17 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46792579 46792579 + Nonsense_Mutation SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:46792579G>T uc003bhw.1 - 12 5766 c.5766C>A c.(5764-5766)tgC>tgA p.C1922* CELSR1_uc011arc.1_Nonsense_Mutation_p.C243* NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA. 1922 EGF-like 6; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GGGAGCGCACGCAGGCCCCCA 0.617000 16 6 0.00307968 0.00310426 1 1 0 PTK2B 2185 broad.mit.edu 37 8 27300482 27300482 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:27300482C>T uc003xfn.2 + 26 2938 c.2130C>T c.(2128-2130)ttC>ttT p.F710F PTK2B_uc022ate.1_Silent_p.F710F|PTK2B_uc003xfp.2_Silent_p.F710F|PTK2B_uc003xfq.2_Silent_p.F710F|PTK2B_uc003xfr.1_Silent_p.F456F NM_173174 NP_775268 Q14289 FAK2_HUMAN Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA. 710 Pro-rich. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CCACAGCCTTCCAGGAACCCC 0.547000 52 4 0 0 1 0 0 MTHFD2 10797 broad.mit.edu 37 2 74435816 74435816 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:74435816C>T uc002skk.3 + 3 609 c.530C>T c.(529-531)cCa>cTa p.P177L MTHFD2_uc002skj.3_Missense_Mutation_p.P75L|MTHFD2_uc010yro.2_Missense_Mutation_p.P75L|MTHFD2_uc010yrp.2_Missense_Mutation_p.P13L NM_006636 NP_006627 P13995 MTDC_HUMAN Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase (MTHFD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 177 folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding p.R176T(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 NADH(DB00157)|Tetrahydrofolic acid(DB00116) CCGGCTACTCCATGGGGTGTG 0.393000 91 42 0 0 1 0 0 ZSCAN29 146050 broad.mit.edu 37 15 43662001 43662001 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:43662001G>A uc001zrk.1 - 0 258 c.111C>T c.(109-111)agC>agT p.S37S ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdg.1_Silent_p.S36S|ZSCAN29_uc010bdf.1_Silent_p.S36S|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_Silent_p.S36S|TUBGCP4_uc001zrn.3_5'Flank|TUBGCP4_uc001zro.3_5'Flank NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA. 37 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2) 24 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) CCCAGAGTTGGCTGAAAGCCT 0.547000 65 6 0 0 1 0 0 OPLAH 26873 broad.mit.edu 37 8 145113014 145113014 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:145113014G>A uc003zar.3 - 7 1069 c.987C>T c.(985-987)ttC>ttT p.F329F OPLAH_uc003zas.1_5'Flank|OPLAH_uc003zat.1_Silent_p.F107F NM_017570 NP_060040 O14841 OPLA_HUMAN Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA. 329 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) AGACGTGCTCGAATTCCCCAG 0.667000 108 9 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167793932 167793932 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:167793932G>A uc001ger.3 - 26 4210 c.3912C>T c.(3910-3912)ttC>ttT p.F1304F ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Silent_p.F1151F|ADCY10_uc009wvk.3_Silent_p.F1212F NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 1304 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction ATP binding|adenylate cyclase activity|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TGAGCTTGTTGAAGACCAGTG 0.498000 201 15 0 0 1 0 0 ZNF607 84775 broad.mit.edu 37 19 38190151 38190151 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:38190151G>A uc002ohc.2 - 4 1477 c.881C>T c.(880-882)tCc>tTc p.S294F ZNF607_uc002ohb.2_Missense_Mutation_p.S293F NM_032689 NP_116078 Q96SK3 ZN607_HUMAN Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA. 294 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) CACAAGGTGGGAAAACTGACG 0.423000 50 8 0 0 1 0 0 GBX1 2636 broad.mit.edu 37 7 150846137 150846137 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:150846137C>T uc011kvg.2 - 1 863 c.631G>A c.(631-633)Ggt>Agt p.G211S NM_001098834 NP_001092304 Q14549 GBX1_HUMAN Homo sapiens gastrulation brain homeobox 1 (GBX1), mRNA. 211 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(5)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCGCTGTCACCGCCTGAGCCC 0.612000 330 19 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219887962 219887962 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:219887962G>A uc002vjl.1 - 15 2871 c.2787C>T c.(2785-2787)ccC>ccT p.P929P NM_194302 NP_919278 Q6ZU64 CC108_HUMAN Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA. 929 MSP. integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCCCCTGGAGGGCTGGACAG 0.602000 43 10 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65268514 65268514 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:65268514C>T uc001xht.3 - 4 656 c.605G>A c.(604-606)tGg>tAg p.W202* SPTB_uc001xhr.3_Nonsense_Mutation_p.W202*|SPTB_uc001xhs.3_Nonsense_Mutation_p.W202*|SPTB_uc001xhu.3_Nonsense_Mutation_p.W202* NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 202 Actin-binding.|CH 2. W -> R (in HS; Kissimmee). actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GCCATCCTTCCAGCTGGAGGT 0.478000 OREG0022735 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 125 17 0 0 1 0 0 CREB3L3 84699 broad.mit.edu 37 19 4154994 4154994 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:4154994G>A uc002lzl.3 + 1 242 c.126G>A c.(124-126)ctG>ctA p.L42L CREB3L3_uc002lzm.3_Silent_p.L33L|CREB3L3_uc010xib.2_Silent_p.L33L|CREB3L3_uc010xic.2_Silent_p.L33L NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA. 42 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) ACGTGGAGCTGGGCGAGGGCT 0.637000 124 8 0 0 1 0 0 ZNF518A 9849 broad.mit.edu 37 10 97917640 97917640 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:97917640C>T uc001klp.3 + 5 2418 c.1561C>T c.(1561-1563)Ctt>Ttt p.L521F ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Missense_Mutation_p.L521F|ZNF518A_uc001klr.3_Missense_Mutation_p.L521F NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN Homo sapiens zinc finger protein 518A (ZNF518A), mRNA. 521 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) ATCTTCTATACTTTCAGGGAA 0.323000 61 8 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9082904 9082904 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9082904C>T uc002mkp.3 - 0 9115 c.8911G>A c.(8911-8913)Gca>Aca p.A2971T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2972 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.A2971E(1)|p.M2970N(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCATGCCCTGCCATAGAAGGG 0.502000 34 5 0 0 1 0 0 FAM83F 113828 broad.mit.edu 37 22 40417787 40417787 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:40417787G>A uc003ayk.1 + 3 1367 c.1273G>A c.(1273-1275)Gga>Aga p.G425R NM_138435 NP_612444 Q8NEG4 FA83F_HUMAN Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA. 425 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 AAACGGCATGGGAGAAGCGGC 0.672000 31 7 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15794549 15794549 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:15794549C>T uc002nbl.3 + 6 1013 c.894C>T c.(892-894)ttC>ttT p.F298F NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CTTTGGATTTCATTGATGTGC 0.438000 151 9 0 0 1 0 0 PKN1 5585 broad.mit.edu 37 19 14562679 14562679 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:14562679C>T uc002myp.3 + 6 1177 c.1009C>T c.(1009-1011)Cca>Tca p.P337S PKN1_uc002myq.3_Missense_Mutation_p.P343S NM_002741 NP_002732 Q16512 PKN1_HUMAN Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA. 337 C2. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 CAGAGACCTCCCAGAGACCAT 0.692000 26 6 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17714998 17714998 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:17714998G>A uc001bak.1 + 6 802 c.802G>A c.(802-804)Gaa>Aaa p.E268K NM_207421 NP_997304 Q6TGC4 PADI6_HUMAN Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA. 260 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CCCATCTGCCGAATTCTCAGG 0.557000 23 5 0 0 1 0 0 TSNAXIP1 55815 broad.mit.edu 37 16 67861663 67861663 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:67861663G>A uc010vka.2 + 15 1982 c.1906G>A c.(1906-1908)Gaa>Aaa p.E636K TSNAXIP1_uc002euf.4_3'UTR|TSNAXIP1_uc010vkb.2_Missense_Mutation_p.E567K|TSNAXIP1_uc002eug.4_Missense_Mutation_p.E290K|TSNAXIP1_uc002euh.4_Missense_Mutation_p.E290K|TSNAXIP1_uc002eui.4_Missense_Mutation_p.E290K|TSNAXIP1_uc002euj.3_Missense_Mutation_p.E582K|TSNAXIP1_uc002euk.3_Missense_Mutation_p.E315K NM_018430 NP_060900 Q2TAA8 TXIP1_HUMAN Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA. 582 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) CAGCCATGAGGAAGTGACTCT 0.637000 31 4 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30934472 30934472 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:30934472G>A uc002nsu.1 + 1 141 c.3G>A c.(1-3)atG>atA p.M1I ZNF536_uc010edd.1_Missense_Mutation_p.M1I NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TTTCAGGGATGGAAGAAGCGA 0.587000 90 18 0 0 1 0 0 GPR137 56834 broad.mit.edu 37 11 64056797 64056797 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:64056797C>T uc010rni.2 + 8 1416 c.1388C>T c.(1387-1389)cCt>cTt p.P463L GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_3'UTR|GPR137_uc001nzi.3_3'UTR|GPR137_uc021qkt.1_Missense_Mutation_p.P405L|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.4_5'Flank|KCNK4_uc001nzn.1_5'Flank NM_001170726 NP_001164197 Q96N19 G137A_HUMAN Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA. 405 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 TGGCCGGCTCCTTGCTGCTCC 0.667000 135 32 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76511066 76511066 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:76511066C>T uc010dhp.2 - 25 4028 c.3903G>A c.(3901-3903)tgG>tgA p.W1301* NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGATATCTTTCCACTTGGTGG 0.453000 76 5 0 0 1 0 0 TMCC3 57458 broad.mit.edu 37 12 94975655 94975655 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:94975655C>T uc001tdj.2 - 1 856 c.738G>A c.(736-738)gtG>gtA p.V246V TMCC3_uc001tdi.2_Silent_p.V215V NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA. 246 integral to membrane NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 TGGGTTTGTTCACGATGGTAG 0.557000 54 7 0 0 1 0 0 TMEM110-MUSTN1 100526772 broad.mit.edu 37 3 52883818 52883818 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:52883818G>A uc003dgc.4 - 3 548 c.417C>T c.(415-417)ttC>ttT p.F139F TMEM110-MUSTN1_uc003dgd.3_Silent_p.F139F NM_001198974 NP_001185903 Homo sapiens TMEM110-MUSTN1 readthrough (TMEM110-MUSTN1), mRNA. CATATTCGCCGAAGCGCAGGG 0.627000 49 5 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68154022 68154022 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:68154022C>T uc001ont.3 + 5 1329 c.1254C>T c.(1252-1254)ccC>ccT p.P418P LRP5_uc009ysg.3_5'UTR NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 418 Beta-propeller 2. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCAACGACCCCGATGGCATCG 0.657000 73 10 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102493581 102493581 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:102493581C>T uc001yks.2 + 44 9006 c.8842C>T c.(8842-8844)Cgt>Tgt p.R2948C NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 2948 AAA 4 (By similarity). G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding p.R2948H(1) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TACCCTGTCTCGTTTCGTCGC 0.478000 174 43 0 0 1 0 0 TRAPPC12 51112 broad.mit.edu 37 2 3469395 3469395 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:3469395C>T uc002qxm.1 + 8 1911 c.1705C>T c.(1705-1707)Cat>Tat p.H569Y TRAPPC12_uc002qxn.1_Missense_Mutation_p.H569Y|TRAPPC12_uc010ewm.1_Missense_Mutation_p.H575Y NM_016030 NP_057114 Q8WVT3 TTC15_HUMAN Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA. 569 binding GGAGGCGTATCATTCGGTTAT 0.537000 127 14 0 0 1 0 0 DHX37 57647 broad.mit.edu 37 12 125441590 125441590 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:125441590G>A uc001ugy.3 - 16 2348 c.2249C>T c.(2248-2250)cCc>cTc p.P750L NM_032656 NP_116045 Q8IY37 DHX37_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA. 750 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) TGCTTTCTGGGGCGGTTGCAG 0.632000 74 4 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39265018 39265018 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:39265018C>T uc001uwv.3 + 0 3846 c.3537C>T c.(3535-3537)ttC>ttT p.F1179F NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 1179 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.F1178L(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GACAGTTCTTCCCCATTGTAA 0.418000 80 18 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216062053 216062053 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:216062053G>A uc001hku.1 - 40 8325 c.7938C>T c.(7936-7938)ccC>ccT p.P2646P NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 2646 Fibronectin type-III 13. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGTGGGTAGGGGGTTGCCAAG 0.502000 HNSCC(13;0.011) 43 5 0 0 1 0 0 KCNN4 3783 broad.mit.edu 37 19 44280756 44280756 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:44280756C>T uc002oxl.3 - 1 588 c.192G>A c.(190-192)acG>acA p.T64T NM_002250 NP_002241 O15554 KCNN4_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA. 64 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) AAATGCTGATCGTGCATTTAA 0.597000 53 5 0 0 1 0 0 OR52N5 390075 broad.mit.edu 37 11 5799669 5799669 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:5799669G>A uc010qzn.2 - 0 229 c.196C>T c.(196-198)Ccg>Tcg p.P66S TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron NM_001001922 NP_001001922 Q8NH56 O52N5_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA. 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) AAATACATCGGATGATGTAAG 0.453000 2 3 0 0 1 0 0 C6orf25 80739 broad.mit.edu 37 6 31691628 31691628 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31691628C>T uc011doc.2 + 1 314 c.274C>T c.(274-276)Cgg>Tgg p.R92W LY6G6C_uc003nwh.3_5'Flank|LY6G6C_uc010jtd.3_5'Flank|C6orf25_uc021yux.1_Missense_Mutation_p.R92W|C6orf25_uc003nwk.3_Missense_Mutation_p.R92W|C6orf25_uc011dod.2_Missense_Mutation_p.R92W|C6orf25_uc003nwn.3_Missense_Mutation_p.R92W|C6orf25_uc011doe.2_Missense_Mutation_p.R92W|C6orf25_uc003nwo.3_Missense_Mutation_p.R92W NM_138272 NP_612116 O95866 G6B_HUMAN Homo sapiens chromosome 6 open reading frame 25 (C6orf25), transcript variant 2, mRNA. 92 Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 CTCTGGTATCCGGCGGCTGGA 0.677000 318 55 0 0 1 0 0 TM2D1 83941 broad.mit.edu 37 1 62190767 62190767 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:62190767G>A uc001czz.1 - 0 329 c.26C>T c.(25-27)cCg>cTg p.P9L NM_032027 NP_114416 Q9BX74 TM2D1_HUMAN Homo sapiens TM2 domain containing 1 (TM2D1), mRNA. 9 apoptosis large_intestine(2)|lung(3)|ovary(1) 6 CGGAGCAGACGGACCAGACGG 0.687000 90 5 0 0 1 0 0 MAP2K7 5609 broad.mit.edu 37 19 7976151 7976151 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:7976151C>T uc002mit.3 + 7 937 c.872C>T c.(871-873)cCc>cTc p.P291L MAP2K7_uc002miv.2_Missense_Mutation_p.P291L|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Missense_Mutation_p.P166L|MAP2K7_uc010xkb.2_Missense_Mutation_p.P291L NM_145185 NP_660186 O14733 MP2K7_HUMAN Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA. 291 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.D290D(1) breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) CGCATTGACCCCCCAGACCCC 0.706000 73 6 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140790093 140790093 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140790093C>T uc003lkj.2 + 0 2324 c.2324C>T c.(2323-2325)tCc>tTc p.S775F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Missense_Mutation_p.S775F|PCDHGC5_uc011day.2_5'Flank|PCDHGC5_uc003lkl.2_5'Flank NM_018926 NP_061749 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA. 795 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCCTACATTCCAATGAAGAC 0.438000 77 7 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53685505 53685505 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:53685505C>T uc001sck.2 + 25 5643 c.5552C>T c.(5551-5553)cCt>cTt p.P1851L ESPL1_uc001scj.2_Missense_Mutation_p.P1526L NM_012291 NP_036423 Q14674 ESPL1_HUMAN Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA. 1851 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 GCCCTCACCCCTCAGGACATT 0.587000 170 15 0 0 1 0 0 RBM27 54439 broad.mit.edu 37 5 145610271 145610271 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:145610271C>T uc003lnz.4 + 5 807 c.641C>T c.(640-642)tCc>tTc p.S214F RBM27_uc003lny.2_Missense_Mutation_p.S214F NM_018989 NP_061862 Q9P2N5 RBM27_HUMAN Homo sapiens RNA binding motif protein 27 (RBM27), mRNA. 214 mRNA processing cytoplasm|nuclear speck RNA binding|nucleotide binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGGAGAGTTCCTATGTGCCT 0.448000 50 6 0 0 1 0 0 GPR32 2854 broad.mit.edu 37 19 51274811 51274811 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:51274811C>T uc010ycf.2 + 0 954 c.954C>T c.(952-954)ttC>ttT p.F318F NM_001506 NP_001497 O75388 GPR32_HUMAN Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA. 318 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) TCTACGTCTTCGTTGGCAGAG 0.542000 111 7 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6527997 6527997 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:6527997C>T uc001iji.1 - 8 1083 c.999_splice c.e8+1 p.Q333_splice PRKCQ_uc001ijj.2_Splice_Site_p.Q300_splice|PRKCQ_uc009xim.2_Splice_Site_p.Q300_splice|PRKCQ_uc009xin.2_Splice_Site_p.Q264_splice|PRKCQ_uc010qax.2_Splice_Site_p.Q175_splice NM_006257 NP_006248 Q04759 KPCT_HUMAN Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA. 300 T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 ATGCTCCTACCTGTTGAGTGC 0.542000 37 6 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44039743 44039743 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:44039743C>T uc002ijr.4 + 1 362 c.40C>T c.(40-42)Cac>Tac p.H14Y MAPT_uc010dau.3_Missense_Mutation_p.H14Y|MAPT_uc002ijs.4_Missense_Mutation_p.H14Y|MAPT_uc002ijx.4_Missense_Mutation_p.H14Y|MAPT_uc021tyv.1_Missense_Mutation_p.H14Y|MAPT_uc002ijt.4_Missense_Mutation_p.H14Y|MAPT_uc021tyw.1_Missense_Mutation_p.H14Y|MAPT_uc002iju.4_Missense_Mutation_p.H14Y NM_016835 NP_058519 P10636 TAU_HUMAN Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA. 14 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) GATGGAAGATCACGCTGGGAC 0.567000 18 7 0 0 1 0 0 WDR27 253769 broad.mit.edu 37 6 170059297 170059297 + Missense_Mutation SNP A C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:170059297A>C uc003qwx.3 - 11 1724 c.1204T>G c.(1204-1206)Tgc>Ggc p.C402G WDR27_uc003qwv.2_Non-coding_Transcript|WDR27_uc021zio.1_Missense_Mutation_p.C402G|WDR27_uc003qwy.3_Missense_Mutation_p.C275G|WDR27_uc003qwz.1_Missense_Mutation_p.C135G NM_182552 NP_872358 A2RRH5 WDR27_HUMAN Homo sapiens WD repeat domain 27 (WDR27), transcript variant 1, mRNA. 372 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) GCCAGCAAGCACAGCACCTGC 0.587000 122 7 0 0 1 0 0 VWA5A 4013 broad.mit.edu 37 11 124005659 124005660 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:124005659_124005660CC>TT uc001pzu.3 + 11 1486_1487 c.1277_1278CC>TT c.(1276-1278)tcc>tTT p.S426F VWA5A_uc001pzt.3_Missense_Mutation_p.S426F NM_001130142 NP_055437 O00534 VMA5A_HUMAN Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA. 426 VWFA. autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 GAAGGCACCTCCACCAGCCTAA 0.441000 25 7 0 0 1 0 0 C11orf53 341032 broad.mit.edu 37 11 111155025 111155025 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:111155025G>A uc001plc.3 + 2 379 c.232G>A c.(232-234)Ggc>Agc p.G78S NM_198498 NP_940900 Q8IXP5 CK053_HUMAN Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA. 78 endometrium(1)|large_intestine(2)|lung(3)|skin(2) 8 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) GCCCAACGCGGGCTCTCTGTT 0.667000 29 5 0 0 1 0 0 ZNF780B 163131 broad.mit.edu 37 19 40540947 40540947 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:40540947G>A uc002omu.3 - 4 1884 c.1819C>T c.(1819-1821)Cat>Tat p.H607Y ZNF780B_uc002omv.3_Missense_Mutation_p.H459Y NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN Homo sapiens zinc finger protein 780B (ZNF780B), mRNA. 607 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCACCAGTATGAAATTTCTGA 0.423000 46 5 0 0 1 0 0 BEND5 79656 broad.mit.edu 37 1 49202121 49202121 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:49202121G>A uc001crx.4 - 4 942 c.898C>T c.(898-900)Cat>Tat p.H300Y AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc010omy.1_Intron|AGBL4_uc001crv.1_Intron|BEND5_uc001crw.4_Missense_Mutation_p.H131Y NM_024603 NP_078879 Q7L4P6 BEND5_HUMAN Homo sapiens BEN domain containing 5 (BEND5), mRNA. 300 large_intestine(5)|lung(2)|skin(1) 8 CTTCCCAGATGGACCTGAGAG 0.478000 37 5 0 0 1 0 0 ZNF852 285346 broad.mit.edu 37 3 44541984 44541984 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:44541984G>A uc011azx.2 - 3 446 c.285C>T c.(283-285)ttC>ttT p.F95F ZNF445_uc011azw.1_Intron|ZNF852_uc011azy.2_Silent_p.F61F B6EU87 B6EU87_HUMAN RecName: Full=Putative zinc finger protein 852; 95 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|lung(5) 8 CTAACTCTTTGAAGGTATCTT 0.398000 22 4 0 0 1 0 0 CAPN6 827 broad.mit.edu 37 X 110496295 110496295 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:110496295G>A uc004epc.2 - 3 638 c.447C>T c.(445-447)ttC>ttT p.F149F CAPN6_uc011msu.2_5'UTR NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN Homo sapiens calpain 6 (CAPN6), mRNA. 149 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 TGGAGAAAGAGAAGACCAGAT 0.428000 12 9 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218683344 218683344 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:218683344G>A uc002vgt.2 - 23 3797 c.3399C>T c.(3397-3399)agC>agT p.S1133S TNS1_uc002vgr.2_Silent_p.S1120S|TNS1_uc002vgs.2_Silent_p.S1112S|TNS1_uc010zjv.1_Silent_p.S1112S NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN Homo sapiens tensin 1 (TNS1), mRNA. 1133 Ser-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GAGGAGAAGAGCTCTGGTAGT 0.622000 57 4 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168104099 168104099 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:168104099C>T uc002udx.3 + 8 6286 c.6197C>T c.(6196-6198)aCt>aTt p.T2066I XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.T1891I|XIRP2_uc010fpq.3_Missense_Mutation_p.T1844I|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1891 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GGTGTCTGGACTGATACTACA 0.358000 10 4 0 0 1 0 0 CLEC5A 23601 broad.mit.edu 37 7 141643749 141643749 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:141643749C>T uc003vwv.1 - 3 352 c.155G>A c.(154-156)gGg>gAg p.G52E CLEC5A_uc011krm.1_Intron|CLEC5A_uc003vww.1_Missense_Mutation_p.G52E|CLEC5A_uc010lnq.1_Intron|CLEC5A_uc010lnr.1_Intron NM_013252 NP_037384 Q9NY25 CLC5A_HUMAN Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA. 52 anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity p.G52W(1) endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) GGAACTGCTCCCAAAAATCTG 0.433000 15 5 0 0 1 0 0 ZNF124 7678 broad.mit.edu 37 1 247320141 247320141 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:247320141G>A uc001ick.3 - 3 922 c.783C>T c.(781-783)ccC>ccT p.P261P ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Silent_p.P199P NM_003431 NP_003422 Q15973 ZN124_HUMAN Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA. 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2) 14 all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00739) TACATGGATAGGGTTCTTCAC 0.428000 53 4 0 0 1 0 0 ANLN 54443 broad.mit.edu 37 7 36459083 36459083 + Missense_Mutation SNP C T T rs138337760 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:36459083C>T uc003tff.3 + 9 2068 c.1864C>T c.(1864-1866)Cca>Tca p.P622S ANLN_uc011kaz.2_Missense_Mutation_p.P534S|ANLN_uc003tfg.3_Missense_Mutation_p.P585S|ANLN_uc010kxe.3_Missense_Mutation_p.P584S NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN Homo sapiens anillin, actin binding protein (ANLN), mRNA. 622 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 TGTGGTAAGTCCAGAGGTAAG 0.423000 8 5 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380328 147380328 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:147380328C>T uc021ovm.1 + 0 246 c.246C>T c.(244-246)atC>atT p.I82I GJA8_uc001epu.2_Silent_p.I82I NM_005267 NP_005258 P48165 CXA8_HUMAN Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA. 82 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) TGCTGCAGATCATCTTCGTCT 0.627000 55 6 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106805208 106805208 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:106805208C>T uc021ser.1 - 583 c.16663G>A abParts_uc001ysw.1_Non-coding_Transcript Parts of antibodies, mostly variable regions. CTCATTGTGTCTCTCGCACAG 0.612000 251 18 0 0 1 0 0 GFI1B 8328 broad.mit.edu 37 9 135866351 135866351 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:135866351C>T uc004ccg.3 + 6 1262 c.907C>T c.(907-909)Ccc>Tcc p.P303S GFI1B_uc010mzy.3_Missense_Mutation_p.P257S NM_004188 NP_004179 Q5VTD9 GFI1B_HUMAN Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA. 303 Interaction with ARIH2.|Mediates interaction with GATA1. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) AGGCTTCAAGCCCTTCAGCTG 0.632000 59 6 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195517001 195517001 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:195517001C>T uc021xjp.1 - 1 1606 c.1450G>A c.(1450-1452)Gaa>Aaa p.E484K MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.E366K NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 489 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTTGTTGTTTCATGTAGAGTA 0.493000 102 15 0 0 1 0 0 OR2H2 7932 broad.mit.edu 37 6 29556420 29556420 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:29556420G>A uc003nmr.1 + 0 738 c.699G>A c.(697-699)agG>agA p.R233R GABBR1_uc003nmp.4_Intron NM_007160 NP_009091 O95918 OR2H2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA. 233 defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 14 AAGGGCGGAGGAAAGCTTTTG 0.527000 69 7 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37464711 37464711 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:37464711C>T uc003aqt.1 - 16 2186 c.2124G>A c.(2122-2124)gcG>gcA p.A708A TMPRSS6_uc003aqs.1_Intron NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA. 714 Peptidase S1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 ccacagcatccgcccgtaggg 0.488000 47 8 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20335465 20335465 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:20335465C>T uc002dgv.3 - 2 291 c.208G>A c.(208-210)Gat>Aat p.D70N GP2_uc002dgw.3_Missense_Mutation_p.D70N|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron NM_001007240 NP_001007241 P55259 GP2_HUMAN Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA. 70 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 AAGGGTTCATCCAGGAGGGTG 0.557000 44 9 0 0 1 0 0 TBX21 30009 broad.mit.edu 37 17 45822521 45822521 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:45822521G>A uc002ilv.1 + 5 1608 c.1397G>A c.(1396-1398)cGg>cAg p.R466Q NM_013351 NP_037483 Q9UL17 TBX21_HUMAN Homo sapiens T-box 21 (TBX21), mRNA. 466 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 22 TCAGAGGGACGGGGACCAGAG 0.657000 28 5 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103355070 103355070 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:103355070C>T uc001dum.3 - 58 4759 c.4441G>A c.(4441-4443)Gaa>Aaa p.E1481K COL11A1_uc001duk.3_Missense_Mutation_p.E665K|COL11A1_uc001dul.3_Missense_Mutation_p.E1469K|COL11A1_uc001dun.3_Missense_Mutation_p.E1430K|COL11A1_uc009weh.3_Missense_Mutation_p.E1353K NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 1469 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCACCTTTTTCCCCTTGTTCT 0.408000 12 12 0 0 1 0 0 FAM59A 64762 broad.mit.edu 37 18 29867768 29867768 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:29867768G>A uc002kxl.3 - 3 848 c.792C>T c.(790-792)ttC>ttT p.F264F FAM59A_uc002kxk.2_Silent_p.F264F NM_001242409 NP_001229338 Q9H706 FA59A_HUMAN Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA. 264 CABIT. endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 36 CCTCACGGATGAAGTGGAGGT 0.537000 97 10 0 0 1 0 0 KRT76 51350 broad.mit.edu 37 12 53169180 53169180 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:53169180G>A uc001sax.3 - 1 861 c.807C>T c.(805-807)ttC>ttT p.F269F NM_015848 NP_056932 Q01546 K22O_HUMAN Homo sapiens keratin 76 (KRT76), mRNA. 269 Coil 1B.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ACTTCTTTTTGAAGTCTTCCA 0.517000 94 9 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21789439 21789439 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:21789439G>A uc001wag.3 + 11 1489 c.1489G>A c.(1489-1491)Gaa>Aaa p.E497K RPGRIP1_uc001wah.3_Missense_Mutation_p.E139K|RPGRIP1_uc001wai.3_Missense_Mutation_p.E139K|RPGRIP1_uc001waj.1_5'UTR|RPGRIP1_uc001wak.3_5'UTR|RPGRIP1_uc010aim.3_5'Flank|RPGRIP1_uc001wal.3_5'Flank|RPGRIP1_uc001wam.3_5'Flank NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA. 497 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) CAAAAACCAAGAAGAAAAGAA 0.408000 20 3 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76525746 76525746 + Silent SNP G A A rs883022 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:76525746G>A uc010dhp.2 - 21 3440 c.3315C>T c.(3313-3315)gtC>gtT p.V1105V NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCATTCTGGCGACTTTCATGA 0.597000 49 8 0 0 1 0 0 CCDC19 25790 broad.mit.edu 37 1 159842769 159842769 + Silent SNP G A A rs144795673 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:159842769G>A uc001fui.3 - 10 1560 c.1542C>T c.(1540-1542)atC>atT p.I514I CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Silent_p.I429I|CCDC19_uc001fuj.3_Non-coding_Transcript NM_012337 NP_036469 Q9UL16 CCD19_HUMAN Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA. 514 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) TGATCTCATCGATGCGCTCAC 0.572000 54 6 0 0 1 0 0 CCDC135 84229 broad.mit.edu 37 16 57756673 57756673 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:57756673G>A uc002emi.3 + 9 1417 c.1328G>A c.(1327-1329)aGg>aAg p.R443K CCDC135_uc002emj.3_Missense_Mutation_p.R443K|CCDC135_uc002emk.3_Missense_Mutation_p.R378K NM_032269 NP_115645 Q8IY82 CC135_HUMAN Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA. 443 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 CAGTACAAGAGGGCAAAGCTG 0.557000 65 7 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37319298 37319298 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:37319298C>T uc001caz.2 - 7 1265 c.1130G>A c.(1129-1131)cGa>cAa p.R377Q GRIK3_uc001cba.1_Missense_Mutation_p.R377Q NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 377 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.G376V(2) breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GAAAACAATTCGTCCAGTTAA 0.498000 44 17 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10428192 10428192 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:10428192C>T uc003bvt.3 - 6 1351 c.912G>A c.(910-912)gtG>gtA p.V304V ATP2B2_uc003bvv.3_Intron|ATP2B2_uc003bvw.3_Intron|ATP2B2_uc010hdo.3_Intron NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA. 304 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding p.A303fs*56(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CCCCCTTCTTCACACCTGTGT 0.512000 52 9 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2538422 2538422 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:2538422C>T uc001ajy.2 - 6 836 c.622G>A c.(622-624)Gag>Aag p.E208K MMEL1_uc009vlg.1_Non-coding_Transcript NM_033467 NP_258428 Q495T6 MMEL1_HUMAN Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA. 208 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) CCTACGGTCTCGTTCCACCTG 0.642000 79 12 0 0 1 0 0 OR51T1 401665 broad.mit.edu 37 11 4903171 4903171 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:4903171C>T uc010qyp.2 + 0 123 c.123C>T c.(121-123)ttC>ttT p.F41F NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA. 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CCTCAAACTTCCTCCTCACTG 0.413000 21 5 0 0 1 0 0 TMEM40 55287 broad.mit.edu 37 3 12784000 12784000 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:12784000C>T uc011auv.1 - 4 523 c.356G>A c.(355-357)gGg>gAg p.G119E TMEM40_uc003bxg.1_Missense_Mutation_p.G103E|TMEM40_uc003bxh.1_Missense_Mutation_p.G73E NM_018306 NP_060776 Q8WWA1 TMM40_HUMAN Homo sapiens transmembrane protein 40 (TMEM40), mRNA. 103 integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 CTCCCCATGCCCAGGACCTGG 0.507000 79 7 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158908248 158908248 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:158908248G>A uc001ftb.3 + 2 577 c.327G>A c.(325-327)caG>caA p.Q109Q PYHIN1_uc001fta.4_Silent_p.Q109Q|PYHIN1_uc001ftc.3_Silent_p.Q100Q|PYHIN1_uc001ftd.3_Silent_p.Q109Q|PYHIN1_uc001fte.3_Silent_p.Q100Q NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA. 109 cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) AGACGAAACAGAAAGAAGTGT 0.428000 53 9 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35547857 35547857 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:35547857C>T uc003zww.3 + 1 1594 c.1339C>T c.(1339-1341)Cta>Tta p.L447L RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Silent_p.L447L NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA. 447 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) TGAGTATTACCTATTCCAGAA 0.582000 199 15 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17449875 17449875 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:17449875G>A uc001mnc.3 - 13 2127 c.2001C>T c.(1999-2001)gtC>gtT p.V667V NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 667 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CTGCACTGGGGACCAGGCTCT 0.662000 237 18 0 0 1 0 0 KLK14 43847 broad.mit.edu 37 19 51585837 51585837 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:51585837G>A uc021uyk.1 - 2 302 c.83C>T c.(82-84)gCt>gTt p.A28V KLK14_uc002pvs.1_Missense_Mutation_p.A28V NM_022046 NP_071329 Q9P0G3 KLK14_HUMAN Homo sapiens kallikrein-related peptidase 14 (KLK14), mRNA. 28 epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction extracellular space serine-type endopeptidase activity kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 11 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422) CTTACCTATAGCCAGGACTTG 0.532000 76 5 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4304796 4304796 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:4304796C>T uc003smx.3 + 44 6561 c.6422C>T c.(6421-6423)tCc>tTc p.S2141F SDK1_uc010kso.3_Missense_Mutation_p.S1397F|SDK1_uc003smy.3_Missense_Mutation_p.S628F|SDK1_uc003smz.3_Missense_Mutation_p.S201F NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 2141 cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CCCAAGCACTCCTTCGTGAAC 0.682000 21 5 0 0 1 0 0 MCF2L2 23101 broad.mit.edu 37 3 182913012 182913012 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:182913012C>T uc003fli.1 - 25 3006 c.2916G>A c.(2914-2916)acG>acA p.T972T NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA. 972 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GTACTCACCTCGTGCTCATTT 0.313000 55 13 0 0 1 0 0 ZNF577 84765 broad.mit.edu 37 19 52381754 52381754 + Silent SNP G A A rs61747861 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:52381754G>A uc010yde.2 - 4 466 c.75C>T c.(73-75)ttC>ttT p.F25F ZNF577_uc010ydd.1_Non-coding_Transcript|ZNF577_uc002pxx.4_Silent_p.F25F|ZNF577_uc002pxv.3_Silent_p.F18F|ZNF577_uc002pxw.3_Silent_p.F18F NM_032679 NP_116068 Q9BSK1 ZN577_HUMAN Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA. 25 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) CCACATCTTCGAATGACAATG 0.458000 30 4 0 0 1 0 0 SIRPD 128646 broad.mit.edu 37 20 1517864 1517864 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:1517864C>T uc002wfi.3 - 2 558 c.514G>A c.(514-516)Gag>Aag p.E172K NM_178460 NP_848555 Q9H106 SIRPD_HUMAN Homo sapiens signal-regulatory protein delta (SIRPD), mRNA. 172 extracellular region breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1) 15 CTGTTTCTCTCAGGCAGGGCC 0.602000 73 7 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21563271 21563271 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:21563271G>A uc009zzs.3 - 3 1013 c.648C>T c.(646-648)ttC>ttT p.F216F LATS2_uc001unr.4_Silent_p.F216F NM_014572 NP_055387 Q9NRM7 LATS2_HUMAN Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA. 216 G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.F216F(3) breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CGACTCCGGGGAAAAGGTAGT 0.711000 20 7 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106976717 106976717 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:106976717C>T uc001kyi.1 + 18 2798 c.2571C>T c.(2569-2571)atC>atT p.I857I SORCS3_uc010qqz.1_Non-coding_Transcript NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 857 PKD. integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGACAAACATCCAGCTTGACT 0.517000 22 3 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208391132 208391132 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:208391132G>A uc001hgz.3 - 1 894 c.136C>T c.(136-138)Cgt>Tgt p.R46C PLXNA2_uc001hha.4_Missense_Mutation_p.R100C NM_025179 NP_079455 O75051 PLXA2_HUMAN Homo sapiens plexin A2 (PLXNA2), mRNA. 46 Sema. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GTCCAGTCACGATTCTCAGAG 0.617000 98 13 0 0 1 0 0 MEOX1 4222 broad.mit.edu 37 17 41738630 41738630 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:41738630G>A uc002idz.3 - 0 302 c.273C>T c.(271-273)tcC>tcT p.S91S MEOX1_uc002iea.3_Silent_p.S91S|MEOX1_uc002ieb.3_5'UTR NM_004527 NP_001035091 P50221 MEOX1_HUMAN Homo sapiens mesenchyme homeobox 1 (MEOX1), transcript variant 1, mRNA. 91 nucleus sequence-specific DNA binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) GCCAGTTGGGGGACTGTGGGA 0.667000 94 18 0 0 1 0 0 KLHL17 339451 broad.mit.edu 37 1 900523 900523 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:900523C>T uc001aca.2 + 11 1988 c.1881C>T c.(1879-1881)ttC>ttT p.F627F KLHL17_uc001acc.2_Non-coding_Transcript|PLEKHN1_uc001acd.3_5'Flank|PLEKHN1_uc001acf.3_5'Flank|PLEKHN1_uc001ace.3_5'Flank NM_198317 NP_938073 Q6TDP4 KLH17_HUMAN Homo sapiens kelch-like 17 (Drosophila) (KLHL17), mRNA. 627 Interaction with F-actin (By similarity). actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TGCTCAATTTCCCGCCGCCAT 0.642000 49 5 0 0 1 0 0 P2RY8 286530 broad.mit.edu 37 X 1584396 1584396 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:1584396G>A uc022brv.1 - 0 1056 c.1056C>T c.(1054-1056)ctC>ctT p.L352L CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.L352L NM_178129 NP_835230 Q86VZ1 P2RY8_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA. 352 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CCTGCCTCTGGAGGCCGGGCC 0.711000 T CRLF2 """B-ALL, Downs associated ALL""" 139 8 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625895 29625895 + Missense_Mutation SNP G A A rs76435412 by1000genomes TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:29625895G>A uc010ztl.1 + 1 81 c.49G>A c.(49-51)Gga>Aga p.G17R FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATCTGGCTATGGAAAATATCT 0.343000 14 7 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87680271 87680271 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:87680271G>A uc003ydx.3 - 4 667 c.619C>T c.(619-621)Cca>Tca p.P207S CNGB3_uc010maj.3_Missense_Mutation_p.P69S NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 207 signal transduction|visual perception integral to membrane cGMP binding p.P207Q(1) NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 ATGCTGTTTGGAAGTTTAATT 0.388000 65 5 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104176438 104176438 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:104176438G>A uc001kvg.1 - 1 885 c.358C>T c.(358-360)Cca>Tca p.P120S PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Missense_Mutation_p.P120S|PSD_uc001kvi.1_Missense_Mutation_p.P120S|FBXL15_uc001kvj.1_5'Flank NM_002779 NP_002770 A5PKW4 PSD1_HUMAN Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA. 120 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) AAGCCCCCTGGAGCAGGTAGC 0.652000 42 6 0 0 1 0 0 NME9 347736 broad.mit.edu 37 3 138024932 138024933 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:138024932_138024933CC>TT uc003esg.3 - 7 577_578 c.549_550GG>AA c.(547-552)caggaa>caAAaa p.E184K NME9_uc003esd.1_Non-coding_Transcript|NME9_uc010huf.1_Missense_Mutation_p.E99K|NME9_uc003ese.1_Missense_Mutation_p.E123K NM_178130 NP_835231 Q86XW9 TXND6_HUMAN Homo sapiens NME gene family member 9 (NME9), mRNA. 184 NDK. CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell redox homeostasis cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity AACCCAGCTTCCTGAATCTGTA 0.351000 193 9 0 0 1 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26898006 26898006 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:26898006C>T uc001bmr.1 + 17 1820 c.1657C>T c.(1657-1659)Ctg>Ttg p.L553L RPS6KA1_uc010ofe.1_Silent_p.L461L|RPS6KA1_uc010off.1_Silent_p.L537L|RPS6KA1_uc001bms.1_Silent_p.L562L|RPS6KA1_uc009vsl.1_Silent_p.L396L NM_002953 NP_002944 Q15418 KS6A1_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA. 553 Protein kinase 2. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) TCCCGAGTGCCTGCGCATCTG 0.582000 42 5 0 0 1 0 0 CPVL 54504 broad.mit.edu 37 7 29135775 29135775 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:29135775G>A uc003szv.3 - 3 466 c.347C>T c.(346-348)tCc>tTc p.S116F CPVL_uc003szw.3_Missense_Mutation_p.S116F|CPVL_uc003szx.3_Missense_Mutation_p.S116F NM_031311 NP_112601 Q9H3G5 CPVL_HUMAN Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA. 116 proteolysis protein binding|serine-type carboxypeptidase activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 TCCAAACATGGATGAACCTCC 0.463000 108 8 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70891683 70891683 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:70891683G>A uc002ezr.3 - 71 12368 c.12217C>T c.(12217-12219)Ctg>Ttg p.L4073L HYDIN_uc010cfy.3_Non-coding_Transcript NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 4074 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CCTACCAGCAGGAAAGGGACT 0.478000 23 4 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6919729 6919729 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:6919729C>T uc002mfw.3 + 12 1629 c.1591C>T c.(1591-1593)Cca>Tca p.P531S EMR1_uc010dvc.3_Missense_Mutation_p.P531S|EMR1_uc010dvb.3_Missense_Mutation_p.P479S|EMR1_uc010xji.2_Missense_Mutation_p.P390S|EMR1_uc010xjj.2_Missense_Mutation_p.P354S NM_001974 NP_001965 Q14246 EMR1_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA. 531 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CTTCTCAGATCCAATCATCTA 0.483000 70 14 0 0 1 0 0 WNT9A 7483 broad.mit.edu 37 1 228109678 228109678 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:228109678G>A uc001hri.2 - 3 727 c.639C>T c.(637-639)acC>acT p.T213T NM_003395 NP_003386 O14904 WNT9A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA. 213 Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) ACTTGCAGGTGGTCTCCACCC 0.652000 50 6 0 0 1 0 0 TOMM40L 84134 broad.mit.edu 37 1 161198820 161198820 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:161198820C>T uc001fzd.3 + 9 1091 c.862C>T c.(862-864)Ctt>Ttt p.L288F TOMM40L_uc010pkl.1_Missense_Mutation_p.L254F|TOMM40L_uc009wue.3_Missense_Mutation_p.L170F|TOMM40L_uc009wuf.2_Non-coding_Transcript|TOMM40L_uc001fze.3_Missense_Mutation_p.L288F NM_032174 NP_115550 Q969M1 TM40L_HUMAN Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast)-like (TOMM40L), nuclear gene encoding mitochondrial protein, mRNA. 288 Required for mitochondrial targeting (By similarity). protein transport mitochondrial outer membrane|pore complex porin activity|voltage-gated anion channel activity large_intestine(2)|liver(4)|lung(4) 10 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) CACCCTAGCCCTTGGAGCCTT 0.567000 100 17 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784261 9784261 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:9784261G>A uc003gmb.4 + 0 1004 c.608G>A c.(607-609)tGg>tAg p.W203* NM_000798 NP_000789 P21918 DRD5_HUMAN Homo sapiens dopamine receptor D5 (DRD5), mRNA. 203 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TGGACGCCCTGGGAGGAGGAC 0.592000 73 5 0 0 1 0 0 PPP2R5C 5527 broad.mit.edu 37 14 102323171 102323171 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:102323171C>T uc001yko.3 + 1 383 c.243C>T c.(241-243)acC>acT p.T81T PPP2R5C_uc010txr.2_Silent_p.T112T|PPP2R5C_uc001ykk.3_Silent_p.T136T|PPP2R5C_uc010txt.2_Silent_p.T71T|PPP2R5C_uc001ykn.3_Silent_p.T81T|PPP2R5C_uc001ykp.3_Silent_p.T81T|PPP2R5C_uc010txs.1_Silent_p.T71T NM_002719 NP_002710 Q13362 2A5G_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA. 81 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 AATATATCACCCATAATCGGA 0.388000 61 4 0 0 1 0 0 MEP1B 4225 broad.mit.edu 37 18 29797906 29797906 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:29797906G>A uc002kxj.4 + 13 2116 c.2069G>A c.(2068-2070)cGa>cAa p.R690Q NM_005925 NP_005916 Q16820 MEP1B_HUMAN Homo sapiens meprin A, beta (MEP1B), mRNA. 690 digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.R690Q(2) cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 AGCTCAAATCGACCAAATTTG 0.383000 25 6 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3329039 3329039 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:3329039G>A uc001akf.3 + 8 2360 c.2278G>A c.(2278-2280)Gac>Aac p.D760N PRDM16_uc001ake.3_Missense_Mutation_p.D760N|PRDM16_uc009vlh.3_Missense_Mutation_p.D461N|PRDM16_uc001akc.3_Missense_Mutation_p.D760N NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 760 Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GTCACCCCGGGACGCCCTCAA 0.647000 T EVI1 """MDS, AML""" 78 6 0 0 1 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47122386 47122386 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:47122386C>T uc002iom.3 + 11 1688 c.1354C>T c.(1354-1356)Cgt>Tgt p.R452C IGF2BP1_uc010dbj.3_Missense_Mutation_p.R313C NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA. 452 KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity p.R452G(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CTCCAAAGTTCGTATGGTTAT 0.468000 101 25 0 0 1 0 0 ITPK1 3705 broad.mit.edu 37 14 93408148 93408148 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:93408148G>A uc001ybg.3 - 10 1292 c.1003C>T c.(1003-1005)Ctg>Ttg p.L335L ITPK1_uc001ybe.2_Intron|ITPK1_uc001ybf.3_Silent_p.L216L|ITPK1_uc001ybh.3_Silent_p.L335L NM_014216 NP_055031 Q13572 ITPK1_HUMAN Homo sapiens inositol-tetrakisphosphate 1-kinase (ITPK1), transcript variant 1, mRNA. 335 blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding endometrium(1)|large_intestine(3)|lung(6)|ovary(1) 11 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) TGCCTCAGCAGGGCCACGTCC 0.687000 22 6 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152275785 152275785 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152275785C>T uc001ezu.1 - 2 11613 c.11577G>A c.(11575-11577)caG>caA p.Q3859Q NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3859 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CACTGGATCCCTGGCGCCTGC 0.582000 Ichthyosis 141 25 0 0 1 0 0 ABI3 51225 broad.mit.edu 37 17 47299475 47299475 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:47299475G>A uc002iop.1 + 6 1323 c.825G>A c.(823-825)ctG>ctA p.L275L ABI3_uc002ioq.1_Silent_p.L269L NM_016428 NP_057512 Q9P2A4 ABI3_HUMAN Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA. 275 Pro-rich. cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 12 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) CCCTGCCACTGGACCTGCCTC 0.602000 HNSCC(55;0.14) 96 11 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7568213 7568213 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:7568213C>T uc002cys.2 + 4 1080 c.92C>T c.(91-93)gCt>gTt p.A31V RBFOX1_uc010buf.1_Missense_Mutation_p.A31V|RBFOX1_uc002cyr.1_Missense_Mutation_p.A31V|RBFOX1_uc002cyt.2_Missense_Mutation_p.A31V|RBFOX1_uc010uxz.1_Missense_Mutation_p.A74V|RBFOX1_uc010uya.1_Missense_Mutation_p.A67V|RBFOX1_uc002cyv.1_Missense_Mutation_p.A31V|RBFOX1_uc010uyb.1_Missense_Mutation_p.A31V|RBFOX1_uc002cyw.2_Missense_Mutation_p.A51V|RBFOX1_uc002cyy.2_Missense_Mutation_p.A51V|RBFOX1_uc002cyx.2_Missense_Mutation_p.A51V|RBFOX1_uc010uyc.1_Missense_Mutation_p.A51V NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA. 31 RNA splicing|RNA transport|mRNA processing nucleus|trans-Golgi network RNA binding|nucleotide binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 GCCCAGTTTGCTCCCCCGCAG 0.592000 116 7 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155561811 155561811 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:155561811G>A uc003qqb.3 + 17 4589 c.3316G>A c.(3316-3318)Gag>Aag p.E1106K TIAM2_uc003qqe.3_Missense_Mutation_p.E1106K|TIAM2_uc010kjj.3_Missense_Mutation_p.E639K|TIAM2_uc003qqf.3_Missense_Mutation_p.E482K|TIAM2_uc011efl.1_Missense_Mutation_p.E442K|TIAM2_uc003qqg.3_Missense_Mutation_p.E418K|TIAM2_uc003qqh.3_Missense_Mutation_p.E31K NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA. 1106 DH. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGTCATCCAGGAGCTTGTGGA 0.572000 60 6 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133807326 133807326 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:133807326G>A uc001qgx.4 - 4 855 c.624C>T c.(622-624)tgC>tgT p.C208C IGSF9B_uc001qgy.1_Silent_p.C50C NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA. 208 Ig-like 2. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) TGTACGCTCGGCAGGTGTAGG 0.617000 29 5 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168310283 168310283 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:168310283C>T uc010jjg.3 - 4 892 c.472G>A c.(472-474)Gat>Aat p.D158N SLIT3_uc003mab.3_Missense_Mutation_p.D158N|SLIT3_uc010jji.2_Missense_Mutation_p.D158N NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 158 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCTTCACATCGGTGATGCCG 0.507000 40 4 0 0 1 0 0 SNX31 169166 broad.mit.edu 37 8 101648144 101648144 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:101648144C>T uc003yjr.3 - 2 388 c.237G>A c.(235-237)ctG>ctA p.L79L NM_152628 NP_689841 Q8N9S9 SNX31_HUMAN Homo sapiens sorting nexin 31 (SNX31), mRNA. 79 PX. cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) AATATTGTTCCAGTTGGTCCC 0.413000 29 7 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9048589 9048589 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:9048589C>T uc002mkp.3 - 4 33246 c.33042G>A c.(33040-33042)gaG>gaA p.E11014E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11016 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAGGTGTGGTCTCTGGTTCAC 0.517000 36 4 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82764666 82764666 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:82764666G>A uc003uhx.2 - 2 2489 c.2200C>T c.(2200-2202)Cct>Tct p.P734S PCLO_uc003uhv.2_Missense_Mutation_p.P734S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 680 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCTTTGGGAGGGGCTGGCTTG 0.527000 55 11 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100366352 100366352 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:100366352C>T uc001dsi.1 + 25 3923 c.3523C>T c.(3523-3525)Ctc>Ttc p.L1175F AGL_uc001dsj.1_Missense_Mutation_p.L1175F|AGL_uc001dsk.1_Missense_Mutation_p.L1175F|AGL_uc001dsl.1_Missense_Mutation_p.L1175F|AGL_uc001dsm.1_Missense_Mutation_p.L1159F|AGL_uc001dsn.1_Missense_Mutation_p.L1158F NM_000642 NP_000635 P35573 GDE_HUMAN Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA. 1175 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TCTAGACATTCTCAAGTGCCC 0.403000 127 9 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40039454 40039454 + Missense_Mutation SNP C A A rs141297025 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:40039454C>A uc002hyg.3 - 19 2349 c.2186G>T c.(2185-2187)cGg>cTg p.R729L ACLY_uc002hyh.3_Missense_Mutation_p.R719L|ACLY_uc002hyi.3_Missense_Mutation_p.R783L|ACLY_uc010wfx.2_Missense_Mutation_p.R773L|ACLY_uc010wfy.2_Missense_Mutation_p.R458L NM_001096 NP_001087 P53396 ACLY_HUMAN Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA. 729 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity p.C728Y(1) NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) CTTGATGCCCCGGCAAATCTT 0.532000 75 4 1 1 1 1 0 CACNA1E 777 broad.mit.edu 37 1 181727209 181727209 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:181727209G>A uc009wxt.3 + 30 4651 c.4456G>A c.(4456-4458)Gcc>Acc p.A1486T CACNA1E_uc001gow.3_Missense_Mutation_p.A1486T|CACNA1E_uc009wxs.3_Missense_Mutation_p.A1467T|CACNA1E_uc001gox.1_Missense_Mutation_p.A712T NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1486 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CACCATTATGGCCATGATCGC 0.557000 29 9 0 0 1 0 0 DNASE1L3 1776 broad.mit.edu 37 3 58196622 58196622 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:58196622C>T uc003djo.1 - 0 109 c.12G>A c.(10-12)gaG>gaA p.E4E DNASE1L3_uc011bfd.1_Silent_p.E4E|DNASE1L3_uc003djp.1_Silent_p.E4E|DNASE1L3_uc003djq.1_Silent_p.E4E NM_004944 NP_004935 Q13609 DNSL3_HUMAN Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA. 4 DNA catabolic process|apoptosis nucleus DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) GTGGGGCCAGCTCCCGTGACA 0.592000 25 7 0 0 1 0 0 DHCR24 1718 broad.mit.edu 37 1 55340859 55340859 + Silent SNP G A A rs149135890 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:55340859G>A uc001cyc.1 - 3 648 c.519C>T c.(517-519)atC>atT p.I173I DHCR24_uc010ooj.1_Silent_p.I35I|DHCR24_uc010ook.1_Silent_p.I132I NM_014762 NP_055577 Q15392 DHC24_HUMAN Homo sapiens 24-dehydrocholesterol reductase (DHCR24), mRNA. 173 FAD-binding PCMH-type. anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 ATGATGACTCGATGCCTGTGC 0.587000 75 13 0 0 1 0 0 VTI1B 10490 broad.mit.edu 37 14 68120182 68120182 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:68120182G>A uc001xjt.3 - 4 970 c.574C>T c.(574-576)Cgg>Tgg p.R192W VTI1B_uc010aqp.3_Missense_Mutation_p.R131W|VTI1B_uc001xju.3_Missense_Mutation_p.R151W NM_006370 NP_006361 Q9UEU0 VTI1B_HUMAN Homo sapiens vesicle transport through interaction with t-SNAREs homolog 1B (yeast) (VTI1B), mRNA. 192 cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis endomembrane system|integral to membrane endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1) 5 all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941) AGAATCTTCCGACTTTTGCTC 0.328000 18 9 0 0 1 0 0 PCK1 5105 broad.mit.edu 37 20 56136651 56136651 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:56136651G>A uc002xyn.4 + 1 347 c.184G>A c.(184-186)Gaa>Aaa p.E62K PCK1_uc010zzm.2_5'UTR NM_002591 NP_002582 P35558 PCKGC_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA. 62 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CCAGATGGAGGAAGAGGGCAT 0.607000 98 15 0 0 1 0 0 CNKSR1 10256 broad.mit.edu 37 1 26515325 26515325 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:26515325C>T uc001bln.4 + 19 1832 c.1774C>T c.(1774-1776)Cta>Tta p.L592L CNKSR1_uc001blm.4_Silent_p.L585L|CNKSR1_uc009vsd.3_Silent_p.L327L|CNKSR1_uc009vse.3_Silent_p.L327L|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank NM_006314 NP_006305 Q969H4 CNKR1_HUMAN Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA. 592 Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) CGTGTCCCTCCTAGGCCAGCC 0.642000 81 26 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155219413 155219413 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:155219413C>T uc003inw.2 - 17 4688 c.4688G>A c.(4687-4689)cGa>cAa p.R1563Q NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 1563 Cadherin 13. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AGTGGTGCTTCGTGAACCCTG 0.448000 21 6 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47589171 47589171 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:47589171C>T uc003gxk.1 + 21 4053 c.3889C>T c.(3889-3891)Cca>Tca p.P1297S ATP10D_uc003gxl.1_Missense_Mutation_p.P545S NM_020453 NP_065186 Q9P241 AT10D_HUMAN Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA. 1297 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 CATGCTGGATCCAGTATTCTA 0.398000 25 4 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152277724 152277724 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:152277724G>A uc001ezu.1 - 2 9674 c.9638C>T c.(9637-9639)tCc>tTc p.S3213F NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3213 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTCACACTGGATCCCTGGCG 0.557000 Ichthyosis 135 14 0 0 1 0 0 SLC2A9 56606 broad.mit.edu 37 4 9943605 9943605 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:9943605A>T uc003gmc.3 - 5 807 c.746T>A c.(745-747)cTt>cAt p.L249H SLC2A9_uc003gmd.3_Missense_Mutation_p.L220H NM_020041 NP_064425 Q9NRM0 GTR9_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA. 249 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 GAGAAAGGGAAGGCTCAGCAG 0.587000 54 5 0 0 1 0 0 PAPLN 89932 broad.mit.edu 37 14 73717620 73717620 + Silent SNP C T T rs150041669 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:73717620C>T uc010ttx.2 + 5 634 c.471C>T c.(469-471)gtC>gtT p.V157V PAPLN_uc001xnw.4_Silent_p.V157V|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Silent_p.V157V NM_173462 NP_775733 O95428 PPN_HUMAN Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA. 157 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CACAGGTTGTCGGCTGTGATC 0.657000 46 4 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140744741 140744741 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140744741C>T uc003lju.2 + 0 844 c.844C>T c.(844-846)Cgc>Tgc p.R282C PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.R282C NM_018918 NP_061741 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA. 282 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTACTCTTTTCGCAATGAAGA 0.453000 43 4 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4834516 4834516 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:4834516C>T uc001alm.1 + 4 1574 c.1193C>T c.(1192-1194)cCt>cTt p.P398L AJAP1_uc001aln.3_Missense_Mutation_p.P398L NM_001042478 NP_061324 Q9UKB5 AJAP1_HUMAN Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA. 398 Targeting signals. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CATCTTATTCCTGTGGCCTTC 0.532000 99 13 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4952413 4952413 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:4952413C>T uc002cyd.1 - 3 522 c.432G>A c.(430-432)gaG>gaA p.E144E NM_002705 NP_002696 O60437 PEPL_HUMAN Homo sapiens periplakin (PPL), mRNA. 144 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 ATACCAGCTTCTCCTCCACCA 0.632000 72 7 0 0 1 0 0 C20orf151 140893 broad.mit.edu 37 20 60987776 60987776 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:60987776T>G uc002ycw.2 - 12 1977 c.1780A>C c.(1780-1782)Agc>Cgc p.S594R NM_080833 NP_543023 Q8NC74 CT151_HUMAN Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA. 594 large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1) 12 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;6.43e-06) CCGGTCGTGCTCGTAGTGGCC 0.692000 86 4 0 0 1 0 0 VARS 7407 broad.mit.edu 37 6 31752246 31752246 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:31752246G>A uc003nxe.3 - 11 1924 c.1501C>T c.(1501-1503)Ctc>Ttc p.L501F VARS_uc011doi.1_Non-coding_Transcript NM_006295 NP_006286 P26640 SYVC_HUMAN Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA. 501 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) GGCACGGAGAGCAGGGTGCGA 0.597000 556 79 0 0 1 0 0 ALLC 55821 broad.mit.edu 37 2 3727484 3727484 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:3727484G>A uc010ewt.3 + 4 359 c.198G>A c.(196-198)ctG>ctA p.L66L NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA. 85 allantoicase activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) TCCTCAGGCTGGGGATCCAAG 0.567000 HNSCC(21;0.051) 99 8 0 0 1 0 0 ZNF382 84911 broad.mit.edu 37 19 37101641 37101641 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:37101641C>T uc002oek.3 + 3 342 c.229C>T c.(229-231)Cta>Tta p.L77L ZNF382_uc010efa.3_Silent_p.L28L|ZNF382_uc010efb.3_Silent_p.L76L|ZNF382_uc002oel.3_Silent_p.L77L NM_032825 NP_116214 Q96SR6 ZN382_HUMAN Homo sapiens zinc finger protein 382 (ZNF382), mRNA. 77 KRAB.|Mediates interaction with TRIM28 (By similarity).|Represses transcription (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TTACAGCTACCTAGGTGAGTC 0.373000 25 3 0 0 1 0 0 TTC9 23508 broad.mit.edu 37 14 71134392 71134392 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:71134392C>T uc001xmi.2 + 1 861 c.518C>T c.(517-519)gCc>gTc p.A173V NM_015351 NP_056166 Q92623 TTC9A_HUMAN Homo sapiens tetratricopeptide repeat domain 9 (TTC9), mRNA. 173 binding skin(1) 1 all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538) TCTGGTGTGGCCTTCTACCAC 0.473000 94 14 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181680091 181680091 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:181680091G>A uc009wxt.3 + 8 1251 c.1056_splice c.e8-1 p.G352_splice CACNA1E_uc001gow.3_Splice_Site_p.G352_splice|CACNA1E_uc009wxs.3_Splice_Site_p.G352_splice NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 352 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TGTCCACAGGGAATTTGCCAA 0.517000 26 9 0 0 1 0 0 GPSM3 63940 broad.mit.edu 37 6 32159677 32159677 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:32159677G>A uc003oay.4 - 2 556 c.154C>T c.(154-156)Ccc>Tcc p.P52S PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.3_5'Flank|GPSM3_uc003oaz.3_Missense_Mutation_p.P52S NM_022107 NP_071390 Q9Y4H4 GPSM3_HUMAN Homo sapiens G-protein signaling modulator 3 (GPSM3), mRNA. 52 signal transduction cytoplasm GTPase activator activity|protein binding large_intestine(1) 1 GCCGAGCGGGGTCCCAGGGCT 0.662000 174 20 0 0 1 0 0 DONSON 29980 broad.mit.edu 37 21 35284673 35284673 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:35284673G>A uc002ytl.3 - 2 209 c.118C>T c.(118-120)Cgc>Tgc p.R40C DONSON_uc002ysn.1_5'UTR|DONSON_uc002ytm.1_Non-coding_Transcript NM_001697 NP_001688 Q9NYP3 DONS_HUMAN Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (ATP5O), nuclear gene encoding mitochondrial protein, mRNA. 24 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 GTGGCATAGCGACCTTCAATA 0.383000 58 4 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31573001 31573001 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:31573001G>A uc002rnv.1 - 24 2799 c.2720C>T c.(2719-2721)cCc>cTc p.P907L NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 907 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CGTGTTGGAGGGAAGGTTGGT 0.567000 105 35 0 0 1 0 0 HHAT 55733 broad.mit.edu 37 1 210796883 210796883 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:210796883C>T uc010psr.2 + 9 1367 c.1262C>T c.(1261-1263)tCc>tTc p.S421F HHAT_uc009xcx.3_Missense_Mutation_p.S420F|HHAT_uc010psq.2_Missense_Mutation_p.S283F|HHAT_uc009xcy.3_Missense_Mutation_p.S355F|HHAT_uc010pss.2_Missense_Mutation_p.S375F|HHAT_uc010pst.2_Missense_Mutation_p.S357F|HHAT_uc001hhz.4_Missense_Mutation_p.S420F|HHAT_uc021pip.1_Missense_Mutation_p.S420F|HHAT_uc010psu.2_Missense_Mutation_p.S355F|HHAT_uc001hia.4_Missense_Mutation_p.S110F NM_001170587 NP_001164058 Q5VTY9 HHAT_HUMAN Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA. 420 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) CGATACTTCTCCCCACAAGCT 0.527000 197 9 0 0 1 0 0 PRKG2 5593 broad.mit.edu 37 4 82074833 82074833 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:82074833C>T uc003hmh.2 - 5 968 c.955G>A c.(955-957)Gaa>Aaa p.E319K PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Missense_Mutation_p.E319K NM_006259 NP_006250 Q13237 KGP2_HUMAN Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA. 319 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 GTACTTCCTTCCTCGCCCTCT 0.343000 20 4 0 0 1 0 0 GLP1R 2740 broad.mit.edu 37 6 39047471 39047471 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:39047471C>T uc003ooj.4 + 10 1235 c.1175C>T c.(1174-1176)tCc>tTc p.S392F GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript NM_002062 NP_002053 P43220 GLP1R_HUMAN Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA. 392 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) TCCTTCACCTCCTTCCAGGTG 0.552000 59 5 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37769438 37769438 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:37769438G>A uc003asq.4 - 2 2923 c.2137C>T c.(2137-2139)Ccc>Tcc p.P713S ELFN2_uc021wph.1_Missense_Mutation_p.P713S NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA. 713 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) TACAGGGCGGGAAAGCTGTGC 0.711000 12 3 0 0 1 0 0 SMG8 55181 broad.mit.edu 37 17 57290769 57290769 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:57290769C>T uc002ixi.3 + 2 2627 c.2585C>T c.(2584-2586)tCt>tTt p.S862F NM_018149 NP_060619 Q8ND04 SMG8_HUMAN Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA. 862 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 TTCATGTGCTCTGGGCCTGAC 0.453000 118 18 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 112991351 112991351 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:112991351C>T uc003dzx.3 + 6 1383 c.762C>T c.(760-762)gcC>gcT p.A254A BOC_uc003dzy.3_Silent_p.A254A|BOC_uc003dzz.3_Silent_p.A254A|BOC_uc003eab.3_5'UTR NM_033254 NP_150279 Q9BWV1 BOC_HUMAN Homo sapiens Boc homolog (mouse) (BOC), mRNA. 254 Ig-like C2-type 3. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) AGTGTGTGGCCAGTGGAATCC 0.612000 151 9 0 0 1 0 0 LUZP2 338645 broad.mit.edu 37 11 25098952 25098952 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:25098952G>A uc001mqs.3 + 11 1210 c.936_splice c.e11+1 p.Q312_splice LUZP2_uc009yif.3_Splice_Site_p.Q226_splice|LUZP2_uc009yig.3_Splice_Site_p.Q270_splice NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA. 312 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 CTATCCCACAGGTATGTGTTT 0.313000 81 5 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4905816 4905816 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:4905816C>T uc002gan.2 + 6 844 c.487C>T c.(487-489)Cgg>Tgg p.R163W NM_006612 NP_006603 O43896 KIF1C_HUMAN Homo sapiens kinesin family member 1C (KIF1C), mRNA. 163 Kinesin-motor. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER Golgi apparatus|endoplasmic reticulum|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 CCCCAAGAGTCGGGGTTCTCT 0.537000 141 13 0 0 1 0 0 KLHL23 151230 broad.mit.edu 37 2 170591668 170591668 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:170591668C>A uc002ufh.2 + 3 519 c.144C>A c.(142-144)ttC>ttA p.F48L KLHL23_uc002ufi.2_Missense_Mutation_p.F48L NM_001199290 NP_001186219 Q8NBE8 KLH23_HUMAN Homo sapiens PHOSPHO2-KLHL23 readthrough (PHOSPHO2-KLHL23), mRNA. 48 BTB. breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 16 GCATAATTTTCCATTGTCACC 0.343000 90 11 5.50884e-06 5.57466e-06 1 1 0 MUC2 4583 broad.mit.edu 37 11 1097275 1097275 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:1097275G>A uc001lsx.1 + 36 6706 c.6679G>A c.(6679-6681)Gag>Aag p.E2227K NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 4593 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GGACATCCCCGAGCTGGGTGT 0.607000 61 7 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72047482 72047482 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:72047482G>A uc004ahh.2 - 11 2688 c.2412C>T c.(2410-2412)atC>atT p.I804I NM_001163 NP_001154 Q02410 APBA1_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA. 804 PDZ 2. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle p.I804I(2) endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GAATGTGGACGATCTTCTCGT 0.622000 18 7 0 0 1 0 0 PCDHB18 54660 broad.mit.edu 37 5 140616263 140616263 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:140616263C>T uc003ljc.1 + 0 2326 c.1978C>T c.(1978-1980)Ctg>Ttg p.L660L Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA. endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 GGCGGTGCGGCTGTGCAGGAG 0.672000 156 8 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93773697 93773697 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:93773697T>A uc001khr.3 + 31 4593 c.4495T>A c.(4495-4497)Ttt>Att p.F1499I NM_003972 NP_003963 O14981 BTAF1_HUMAN Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA. 1499 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) AGTACTACCGTTTCTTTTGAG 0.348000 58 7 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149902314 149902314 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:149902314G>A uc001etl.4 - 14 1841 c.1590C>T c.(1588-1590)ttC>ttT p.F530F SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Silent_p.F458F|MTMR11_uc010pbm.1_3'UTR NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA. 530 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CAGGATTCTGGAATTGTAGTA 0.498000 128 22 0 0 1 0 0 FCRL6 343413 broad.mit.edu 37 1 159779424 159779424 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:159779424G>A uc001fud.4 + 4 879 c.837G>A c.(835-837)gaG>gaA p.E279E FCRL6_uc001fuc.2_Silent_p.E286E|FCRL6_uc009wsz.1_Silent_p.E184E|FCRL6_uc009wta.3_Silent_p.E279E NM_001004310 NP_001004310 Q6DN72 FCRL6_HUMAN Homo sapiens Fc receptor-like 6 (FCRL6), mRNA. 279 Ig-like C2-type 3. integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) GCGAGGCTGAGAACAGTGTCT 0.557000 45 5 0 0 1 0 0 PODXL 5420 broad.mit.edu 37 7 131196076 131196076 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:131196076C>T uc003vqw.4 - 1 475 c.217G>A c.(217-219)Gaa>Aaa p.E73K PODXL_uc003vqx.4_Missense_Mutation_p.E73K NM_001018111 NP_001018121 O00592 PODXL_HUMAN Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA. 73 Thr-rich. cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) GCCAAGATTTCGTTGGCCTTG 0.557000 78 6 0 0 1 0 0 CUL3 8452 broad.mit.edu 37 2 225378273 225378273 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:225378273G>A uc010fwy.1 - 4 693 c.640C>T c.(640-642)Cct>Tct p.P214S CUL3_uc010zls.1_Missense_Mutation_p.P142S|CUL3_uc002vny.2_Missense_Mutation_p.P208S NM_003590 NP_003581 Q13618 CUL3_HUMAN Homo sapiens cullin 3 (CUL3), mRNA. 208 G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TCCAAAAAAGGAGCCTCAAAA 0.303000 28 10 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91773492 91773492 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:91773492C>T uc010aty.3 - 17 3239 c.3085G>A c.(3085-3087)Ggg>Agg p.G1029R NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA. 1029 Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation cytoplasm|insoluble fraction PDZ domain binding|microtubule binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) GCTGTCTTCCCCGCAGGGTGC 0.597000 43 6 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92531700 92531700 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:92531700C>T uc001pdj.4 + 8 5538 c.5521C>T c.(5521-5523)Cat>Tat p.H1841Y NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 1841 Cadherin 16. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CAACCTGGACCATGAAACCAT 0.468000 TCGA Ovarian(4;0.039) 101 5 0 0 1 0 0 KCNK6 9424 broad.mit.edu 37 19 38817556 38817556 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:38817556G>A uc002oic.3 + 1 753 c.646G>A c.(646-648)Ggc>Agc p.G216S KCNK6_uc002oid.3_Missense_Mutation_p.G82S NM_004823 NP_004814 Q9Y257 KCNK6_HUMAN Homo sapiens potassium channel, subfamily K, member 6 (KCNK6), mRNA. 216 voltage-gated potassium channel complex inward rectifier potassium channel activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3) 17 all_cancers(60;5.83e-07) Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613) Ibutilide(DB00308)|Quinidine(DB00908) GTCCACCATCGGCCTGGGCGA 0.627000 151 34 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194063426 194063426 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:194063426G>A uc003fts.3 - 1 96 c.6C>T c.(4-6)ctC>ctT p.L2L CPN2_uc021xix.1_Silent_p.L2L NM_001080513 NP_001073982 P22792 CPN2_HUMAN Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA. 2 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) AGGCTCCAGGGAGCATCTTCT 0.587000 47 6 0 0 1 0 0 HOXA1 3198 broad.mit.edu 37 7 27134227 27134227 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:27134227G>A uc003sye.3 - 1 934 c.840C>T c.(838-840)cgC>cgT p.R280R HOXA1_uc003syd.3_3'UTR|HOXA1_uc022aao.1_3'UTR|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank NM_005522 NP_005513 P49639 HXA1_HUMAN Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA. 280 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GCTTCATTCGGCGGTTCTGGA 0.572000 62 21 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65342188 65342188 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:65342188C>T uc003dmn.3 - 22 4780 c.4254G>A c.(4252-4254)agG>agA p.R1418R MAGI1_uc003dmm.3_3'UTR NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA. 1447 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CCTCTCTGTTCCTTTTGTCCA 0.657000 124 8 0 0 1 0 0 AP1M1 8907 broad.mit.edu 37 19 16339651 16339651 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:16339651C>T uc002ndv.2 + 9 1168 c.995C>T c.(994-996)gCc>gTc p.A332V AP1M1_uc002ndu.2_Missense_Mutation_p.A320V|AP1M1_uc010xpd.1_Intron NM_001130524 NP_001123996 Q9BXS5 AP1M1_HUMAN Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA. 320 MHD. cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 CCCAATGATGCCGACTCACCC 0.602000 44 4 0 0 1 0 0 TGM1 7051 broad.mit.edu 37 14 24718641 24718642 + Missense_Mutation DNP CC AT AT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:24718641_24718642CC>AT uc001wod.3 - 14 2455_2456 c.2331_2332GG>AT c.(2329-2334)caggtg>caATtg p.V778L TGM1_uc010tog.2_Missense_Mutation_p.V336L NM_000359 NP_000350 P22735 TGM1_HUMAN Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA. 778 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) ACACCGTGCACCTGGGAGAGCT 0.609000 54 5 0 0 1 0 0 ARSD 414 broad.mit.edu 37 X 2838652 2838653 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:2838652_2838653GG>AA uc004cqy.3 - 3 528_529 c.428_429CC>TT c.(427-429)acc>aTT p.T143I ARSD_uc004crb.4_Missense_Mutation_p.T143I NM_001669 NP_001660 P51689 ARSD_HUMAN Homo sapiens arylsulfatase D (ARSD), mRNA. 143 lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTATGAGGCCGGTTGCATAGCC 0.540000 27 13 0 0 1 0 0 EML3 256364 broad.mit.edu 37 11 62373637 62373637 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:62373637G>A uc010rly.1 - 12 1862 c.1554C>T c.(1552-1554)ttC>ttT p.F518F EML3_uc001ntr.1_Silent_p.F490F|EML3_uc001nts.1_Silent_p.F490F|EML3_uc001ntt.1_Silent_p.F402F|EML3_uc001ntu.1_Silent_p.F518F|EML3_uc009yny.1_Silent_p.F301F Q32P44 EMAL3_HUMAN Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA. 518 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GACACAAGGCGAAGATAGAAC 0.637000 47 5 0 0 1 0 0 EEF2 1938 broad.mit.edu 37 19 3981385 3981385 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:3981385G>A uc002lze.3 - 6 1046 c.963C>T c.(961-963)atC>atT p.I321I NM_001961 NP_001952 P13639 EF2_HUMAN Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA. 321 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) TGTCCAGTTTGATGTCCAGTT 0.512000 176 17 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75283383 75283383 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:75283383G>A uc001juo.3 - 14 2337 c.2320C>T c.(2320-2322)Cat>Tat p.H774Y USP54_uc010qkk.2_5'UTR|USP54_uc001juk.3_5'UTR|USP54_uc001jul.3_5'UTR|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Missense_Mutation_p.H774Y NM_152586 NP_689799 Q70EL1 UBP54_HUMAN Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA. 774 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) CGGCTAGGATGAGGGTTAAAC 0.498000 183 19 0 0 1 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42276742 42276742 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:42276742C>T uc021sjp.1 - 18 2278 c.2278G>A c.(2278-2280)Gaa>Aaa p.E760K PLA2G4E_uc010udc.2_Missense_Mutation_p.E203K|PLA2G4E_uc001zov.2_Missense_Mutation_p.E384K NM_001206670 NP_001193599 Q3MJ16 PA24E_HUMAN Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA. 748 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) TTGAGATTTTCATTCTCATCT 0.498000 48 4 0 0 1 0 0 KRT4 3851 broad.mit.edu 37 12 53201524 53201524 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:53201524C>T uc001saz.3 - 6 1472 c.1472G>A c.(1471-1473)cGa>cAa p.R491Q NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN Homo sapiens keratin 4 (KRT4), mRNA. 417 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 ACGCAGCATTCGTGCCAGCTC 0.597000 62 8 0 0 1 0 0 OMA1 115209 broad.mit.edu 37 1 58999681 58999681 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:58999681G>A uc001cyy.3 - 4 1043 c.955C>T c.(955-957)Cat>Tat p.H319Y DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Missense_Mutation_p.H319Y|OMA1_uc009vzz.3_Missense_Mutation_p.H319Y NM_145243 NP_660286 Q96E52 OMA1_HUMAN Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA. 319 proteolysis integral to membrane|mitochondrial membrane metal ion binding|metalloendopeptidase activity p.H319D(2) NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1) 18 all_cancers(7;6.54e-05) GAAAGTTGATGAATATCGGTT 0.338000 42 11 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107332265 107332265 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:107332265G>A uc011lvo.2 + 0 817 c.817G>A c.(817-819)Gaa>Aaa p.E273K NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA. 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TTCAGGTAATGAAGACATCAT 0.453000 37 4 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201777982 201777982 + Missense_Mutation SNP C T T rs142836716 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:201777982C>T uc021phi.1 + 19 4537 c.4190C>T c.(4189-4191)cCc>cTc p.P1397L NAV1_uc001gwu.3_Missense_Mutation_p.P1394L|NAV1_uc001gwx.3_Missense_Mutation_p.P1003L NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA. 1397 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 TCCTTCGGCCCCAGTCTTGCA 0.547000 77 9 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183472089 183472089 + Silent SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:183472089T>G uc003fly.2 + 10 1521 c.1326T>G c.(1324-1326)gtT>gtG p.V442V NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN Homo sapiens YEATS domain containing 2 (YEATS2), mRNA. 442 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AAAGTCAGGTTCCTAATCCTG 0.438000 50 4 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195501130 195501130 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:195501130G>A uc021xjp.1 - 3 13146 c.12990C>T c.(12988-12990)ttC>ttT p.F4330F MUC4_uc003fuz.3_Missense_Mutation_p.S10L|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Silent_p.F71F|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Silent_p.F71F|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Silent_p.F94F|MUC4_uc003fvp.3_Silent_p.F43F NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 1087 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TCCTCCTGACGAACTCCAGGT 0.627000 42 8 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98576467 98576467 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:98576467C>T uc003upp.3 + 56 8762 c.8553C>T c.(8551-8553)ctC>ctT p.L2851L TRRAP_uc011kis.2_Silent_p.L2833L|TRRAP_uc003upr.3_Silent_p.L2550L NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 2851 FAT. histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity p.A2850V(1) NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ACCCCTACCTCGTCCTGGAGT 0.627000 104 19 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22872493 22872493 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:22872493C>T uc001yuq.2 + 21 3152 c.3022C>T c.(3022-3024)Ccc>Tcc p.P1008S TUBGCP5_uc001yur.4_Missense_Mutation_p.P1008S NM_001102610 NP_001096080 Q96RT8 GCP5_HUMAN Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA. 1008 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) AGGATCCTTTCCCCATTGTGA 0.328000 65 10 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45288250 45288251 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:45288250_45288251GG>AA uc010olf.2 - 21 3460_3461 c.3448_3449CC>TT c.(3448-3450)ccc>TTc p.P1150F PTCH2_uc021omv.1_Intron|PTCH2_uc010olg.2_Missense_Mutation_p.P848F NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA. 1150 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) AAAGCTCTGGGGCAGGGAGGAG 0.629000 Basal Cell Nevus syndrome 131 8 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129278493 129278493 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:129278493G>A uc003emx.2 - 31 5367 c.5267C>T c.(5266-5268)cCc>cTc p.P1756L PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Missense_Mutation_p.P424L NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN Homo sapiens plexin D1 (PLXND1), mRNA. 1756 axon guidance integral to membrane|intracellular|plasma membrane p.P1756P(1) PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 TAGGGTGTCGGGGTCGGAGAT 0.597000 112 7 0 0 1 0 0 INSR 3643 broad.mit.edu 37 19 7117339 7117339 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:7117339C>T uc002mgd.1 - 21 3986 c.3877G>A c.(3877-3879)Gac>Aac p.D1293N INSR_uc002mge.1_Missense_Mutation_p.D1281N NM_000208 NP_000199 P06213 INSR_HUMAN Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA. 1293 Protein kinase. G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity p.D1293Y(1) breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGGTGCAGGTCGTCCTTGAGC 0.562000 341 52 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56468508 56468508 + Silent SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:56468508T>G uc021wzo.1 - 0 668 c.528A>C c.(526-528)ggA>ggC p.G176G ERC2_uc003dhr.1_Silent_p.G176G NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 176 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TCATGGAAGATCCCAATTTGC 0.483000 119 16 0 0 1 0 0 QRSL1 55278 broad.mit.edu 37 6 107102707 107102707 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:107102707C>T uc003prm.3 + 7 1068 c.952C>T c.(952-954)Cct>Tct p.P318S NM_018292 NP_060762 Q9H0R6 QRSL1_HUMAN Homo sapiens glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 (QRSL1), mRNA. 318 translation ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248) Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152) BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176) AGTATCCCTTCCTCACACCAG 0.428000 49 12 0 0 1 0 0 abParts 0 broad.mit.edu 37 2 89156960 89156960 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:89156960C>T uc021vkt.1 - 299 c.10769G>A abParts_uc002sti.1_Non-coding_Transcript|abParts_uc002stj.1_Non-coding_Transcript Parts of antibodies, mostly variable regions. TTGTGTTTCTCGTAGTCTGCT 0.572000 35 4 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30750002 30750002 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:30750002C>T uc002dze.1 + 33 9026 c.8641C>T c.(8641-8643)Ccc>Tcc p.P2881S SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P2676S NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 2881 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GGATGAGGCACCCTCATCCAC 0.582000 21 5 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42847676 42847676 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:42847676C>T uc002otl.4 + 8 2196 c.1561C>T c.(1561-1563)Ctt>Ttt p.L521F MEGF8_uc002otm.4_Missense_Mutation_p.L62F NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA. 521 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) AGCTGCGGTGCTTGGTGGCAG 0.637000 57 7 0 0 1 0 0 KLHL38 340359 broad.mit.edu 37 8 124663868 124663868 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:124663868G>A uc003yqs.1 - 0 1323 c.1299C>T c.(1297-1299)ctC>ctT p.L433L NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA. 433 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 CAAAGAGATAGAGTCTTTGGT 0.532000 104 6 0 0 1 0 0 SNED1 25992 broad.mit.edu 37 2 242004955 242004955 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:242004955G>A uc002wah.1 + 20 2954 c.2954G>A c.(2953-2955)cGa>cAa p.R985Q SNED1_uc002wai.1_Missense_Mutation_p.R220Q|SNED1_uc002waj.1_Missense_Mutation_p.R72Q|SNED1_uc002wak.3_Missense_Mutation_p.R72Q NM_001080437 NP_001073906 Q8TER0 SNED1_HUMAN Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA. 985 Fibronectin type-III 1. cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) TCAGTGAAGCGAAACAGTAAC 0.657000 41 4 0 0 1 0 0 ACOX2 8309 broad.mit.edu 37 3 58519721 58519721 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:58519721C>T uc003dkl.3 - 4 650 c.475_splice c.e4+1 p.G159_splice NM_003500 NP_003491 Q99424 ACOX2_HUMAN Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA. 159 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) cctAGCTCACCATGTCCCAAC 0.522000 65 7 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6127746 6127746 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:6127746G>A uc001qnn.1 - 27 5088 c.4838C>T c.(4837-4839)tCt>tTt p.S1613F VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 1613 VWFA 2. S -> P (in VWD2). blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GATCTCATCAGAGGCAGGATT 0.607000 57 13 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223284651 223284651 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:223284651C>T uc021pjl.1 - 0 1723 c.1723G>A c.(1723-1725)Gat>Aat p.D575N TLR5_uc001hnv.2_Missense_Mutation_p.D575N|TLR5_uc001hnw.2_Missense_Mutation_p.D575N NM_003268 NP_003259 O60602 TLR5_HUMAN Homo sapiens toll-like receptor 5 (TLR5), mRNA. 575 Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) TGAGTTATATCCAAGACACTA 0.388000 17 8 0 0 1 0 0 OSBPL6 114880 broad.mit.edu 37 2 179170945 179170945 + Missense_Mutation SNP C T T rs77535912 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:179170945C>T uc002uly.3 + 2 578 c.34C>T c.(34-36)Cat>Tat p.H12Y OSBPL6_uc002ulw.3_Missense_Mutation_p.H12Y|OSBPL6_uc002ulx.3_Missense_Mutation_p.H12Y|OSBPL6_uc010zfe.2_Missense_Mutation_p.H12Y|OSBPL6_uc002ulz.3_Missense_Mutation_p.H12Y NM_001201480 NP_001188409 Q9BZF3 OSBL6_HUMAN Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA. 12 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) TTCCCCTGCTCATAAAACATC 0.453000 45 5 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807457 20807457 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:20807457G>A uc002npb.1 - 3 1376 c.1226C>T c.(1225-1227)tCc>tTc p.S409F ZNF626_uc002npc.1_Missense_Mutation_p.S333F NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA. 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 AAGGTTAGAGGAGTACTTAAA 0.398000 35 4 0 0 1 0 0 XKRX 402415 broad.mit.edu 37 X 100182978 100182978 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:100182978G>A uc004egn.2 - 0 921 c.316C>T c.(316-318)Ctc>Ttc p.L106F XKRX_uc011mre.1_5'UTR NM_212559 NP_997724 Q6PP77 XKR2_HUMAN Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA. 106 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3) 22 GGTCCCAAGAGGATTAGATGC 0.398000 38 9 0 0 1 0 0 SLC5A2 6524 broad.mit.edu 37 16 31498897 31498897 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:31498897G>A uc002ecf.4 + 6 721 c.702G>A c.(700-702)ctG>ctA p.L234L SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript NM_003041 NP_003032 P31639 SC5A2_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA. 234 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 ACAAATACCTGGGAGCAGCGA 0.647000 81 9 0 0 1 0 0 UGT3A2 167127 broad.mit.edu 37 5 36035947 36035947 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:36035947G>A uc003jjz.2 - 6 1557 c.1425C>T c.(1423-1425)gtC>gtT p.V475V UGT3A2_uc011cos.2_Silent_p.V441V|UGT3A2_uc011cot.2_Silent_p.V173V NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA. 475 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCTGCTGAAAGACATAGGGCT 0.617000 25 4 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100210236 100210236 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:100210236G>A uc002taf.3 - 13 2106 c.1962C>T c.(1960-1962)ccC>ccT p.P654P AFF3_uc002tag.3_Silent_p.P629P|AFF3_uc010fiq.1_Silent_p.P629P|AFF3_uc010yvr.1_Silent_p.P782P|AFF3_uc002tah.1_Silent_p.P654P NM_001025108 NP_001020279 P51826 AFF3_HUMAN Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA. 629 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TGTTGCCACAGGGCCTGGTTT 0.721000 57 10 0 0 1 0 0 C2orf63 130162 broad.mit.edu 37 2 55408856 55408856 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:55408856G>A uc002ryi.2 - 9 1377 c.1031C>T c.(1030-1032)cCt>cTt p.P344L C2orf63_uc002ryh.2_5'UTR|C2orf63_uc002ryj.2_Missense_Mutation_p.P222L NM_152385 NP_001129070 Q8NHS4 CB063_HUMAN Homo sapiens chromosome 2 open reading frame 63 (C2orf63), transcript variant 1, mRNA. 344 binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189) TAATGGAAGAGGCTTTCCTCT 0.348000 11 4 0 0 1 0 0 RPL4 6124 broad.mit.edu 37 15 66793834 66793834 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:66793834G>A uc002apv.3 - 5 620 c.555C>T c.(553-555)gcC>gcT p.A185A RPL4_uc002apx.3_Silent_p.A91A|RPL4_uc010ujq.2_Silent_p.A185A|RPL4_uc010bhs.1_5'Flank NM_000968 NP_000959 P36578 RL4_HUMAN Homo sapiens ribosomal protein L4 (RPL4), mRNA. 185 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus RNA binding|protein binding|structural constituent of ribosome endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1) 17 TTCGCTGAGAGGCATAGACCT 0.408000 47 27 0 0 1 0 0 FLJ43860 389690 broad.mit.edu 37 8 142487558 142487558 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:142487558C>T uc003ywi.2 - 11 1471 c.1390G>A c.(1390-1392)Gac>Aac p.D464N FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN Homo sapiens FLJ43860 protein (FLJ43860), mRNA. 464 binding all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CACAGAGTGTCCTGGGGCTCC 0.672000 57 7 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183694776 183694776 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:183694776G>A uc003ivd.1 + 21 5119 c.5044G>A c.(5044-5046)Gat>Aat p.D1682N NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1682 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GTCCTCGATCGATTCTTTCTA 0.463000 112 30 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81134869 81134869 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:81134869G>A uc002fgh.1 - 44 7233 c.7233C>T c.(7231-7233)atC>atT p.I2411I PKD1L2_uc002fgf.1_Silent_p.I213I|PKD1L2_uc002fgg.1_Non-coding_Transcript NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 2413 Interaction with GNAS and GNAI1. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GCAAATCTACGATCTCCCCTT 0.493000 24 4 0 0 1 0 0 ZFAT 57623 broad.mit.edu 37 8 135613905 135613905 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:135613905G>A uc003yup.3 - 5 2243 c.2057C>T c.(2056-2058)cCt>cTt p.P686L ZFAT_uc003yun.3_Missense_Mutation_p.P674L|ZFAT_uc003yuo.3_Missense_Mutation_p.P674L|ZFAT_uc010meh.3_Missense_Mutation_p.P674L|ZFAT_uc010mej.3_Missense_Mutation_p.P624L|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.P674L|ZFAT_uc003yur.3_Missense_Mutation_p.P674L NM_020863 NP_001161055 Q9P243 ZFAT_HUMAN Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA. 686 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) AGCTACTGGAGGGAGGAGGTC 0.597000 51 8 0 0 1 0 0 MLL2 8085 broad.mit.edu 37 19 36223347 36223347 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:36223347C>T uc021usv.1 + 27 5897 c.5897C>T c.(5896-5898)tCt>tTt p.S1966F MLL2_uc021usu.1_Missense_Mutation_p.S780F NM_014727 NP_055542 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA. 581 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 CCGGCCCCATCTCCACCACCC 0.657000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 22 5 0 0 1 0 0 ADCYAP1 116 broad.mit.edu 37 18 905492 905492 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:905492G>A uc010dkg.3 + 1 224 c.105G>A c.(103-105)ggG>ggA p.G35G ADCYAP1_uc010dkh.3_Silent_p.G35G NM_001099733 NP_001108 P18509 PACA_HUMAN Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) (ADCYAP1), transcript variant 1, mRNA. 35 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 GGTTCCCCGGGATCAGGTAGG 0.642000 35 9 0 0 1 0 0 DDX21 9188 broad.mit.edu 37 10 70730013 70730013 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:70730013C>T uc001jov.1 + 7 1383 c.1293C>T c.(1291-1293)atC>atT p.I431I DDX21_uc001jow.1_Silent_p.I363I NM_004728 NP_004719 Q9NR30 DDX21_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 (DDX21), mRNA. 431 Helicase C-terminal. nucleolus ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 GGGATGTCATCCGAGTATATA 0.423000 36 4 0 0 1 0 0 HEATR4 399671 broad.mit.edu 37 14 73989665 73989665 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:73989665C>T uc021rwe.1 - 2 540 c.192G>A c.(190-192)ttG>ttA p.L64L HEATR4_uc021rwf.1_Silent_p.L17L|HEATR4_uc010tub.1_Silent_p.L64L NM_001220484 NP_001207413 Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA. breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) CAGCCATTTTCAAATATTGGC 0.507000 92 5 0 0 1 0 0 WRAP73 49856 broad.mit.edu 37 1 3548160 3548160 + Silent SNP G A A rs143201889 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:3548160G>A uc001ako.3 - 10 1218 c.1110C>T c.(1108-1110)ctC>ctT p.L370L WRAP73_uc001akn.3_Silent_p.L370L NM_017818 NP_060288 Q9P2S5 WRP73_HUMAN Homo sapiens WD repeat containing, antisense to TP73 (WRAP73), mRNA. 370 centrosome protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1) 12 ACAGCTGCTCGAGCACCGCGA 0.647000 46 4 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50049127 50049127 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:50049127C>T uc002xwd.3 - 8 2419 c.2199G>A c.(2197-2199)acG>acA p.T733T NFATC2_uc002xwc.3_Silent_p.T733T|NFATC2_uc010zyv.2_Silent_p.T514T|NFATC2_uc010zyw.2_Silent_p.T514T|NFATC2_uc002xwe.3_Silent_p.T713T|NFATC2_uc010zyx.2_Silent_p.T713T|NFATC2_uc010zyy.2_Silent_p.T514T|NFATC2_uc010zyz.2_Silent_p.T514T NM_173091 NP_775114 Q13469 NFAC2_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA. 733 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) ATGAGAGCCCCGTGCGGAACT 0.682000 38 6 0 0 1 0 0 CEACAM19 56971 broad.mit.edu 37 19 45182151 45182151 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:45182151C>T uc002ozo.4 + 3 1082 c.602C>T c.(601-603)tCt>tTt p.S201F CEACAM19_uc002ozp.4_Missense_Mutation_p.S201F NM_020219 NP_064604 Q7Z692 CEA19_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 19 (CEACAM19), transcript variant 2, mRNA. 201 integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 11 Lung NSC(12;0.00308)|all_lung(12;0.00806) Prostate(69;0.0376) ggccagggatctctgtccatc 0.483000 483 65 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802482 185802482 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:185802482C>T uc002uph.3 + 3 2953 c.2359C>T c.(2359-2361)Cga>Tga p.R787* NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 787 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AAGTTTAAATCGACAGAATCA 0.368000 16 5 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64473926 64473926 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:64473926C>T uc001xgl.3 + 30 4793 c.4563C>T c.(4561-4563)gcC>gcT p.A1521A SYNE2_uc001xgm.3_Silent_p.A1521A|SYNE2_uc021ruh.1_Silent_p.A1521A NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 1521 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATACCAAAGCCTTGGTCACCG 0.373000 77 13 0 0 1 0 0 CAMKK2 10645 broad.mit.edu 37 12 121691199 121691199 + Silent SNP G A A rs149343557 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:121691199G>A uc001tzv.3 - 9 1813 c.984C>T c.(982-984)atC>atT p.I328I CAMKK2_uc001tzt.3_Silent_p.I328I|CAMKK2_uc001tzu.3_Silent_p.I328I|CAMKK2_uc001tzw.3_Silent_p.I328I|CAMKK2_uc001tzx.3_Silent_p.I328I|CAMKK2_uc001tzy.3_Silent_p.I328I|CAMKK2_uc001tzz.1_Silent_p.I115I|CAMKK2_uc001uaa.1_Silent_p.I328I|CAMKK2_uc001uab.3_Silent_p.I328I|CAMKK2_uc001uac.3_Silent_p.I328I NM_006549 NP_006540 Q96RR4 KKCC2_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA. 328 Protein kinase. MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CAAAGTCAGCGATCTTGATGT 0.567000 457 37 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1075533 1075533 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:1075533G>A uc003jbu.3 - 14 1986 c.1920C>T c.(1918-1920)tcC>tcT p.S640S NM_006598 NP_006589 Q9Y666 S12A7_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA. 640 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) TGAGCATGGCGGACAGCGCGT 0.657000 43 4 0 0 1 0 0 DEM1 64789 broad.mit.edu 37 1 40980366 40980366 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:40980366C>T uc001cfp.3 + 2 355 c.150C>T c.(148-150)tcC>tcT p.S50S DEM1_uc001cfq.3_Silent_p.S50S|DEM1_uc001cfr.3_Silent_p.S50S|DEM1_uc021omb.1_Silent_p.S50S NM_022774 NP_073611 Q9H790 EXO5_HUMAN Homo sapiens defects in morphology 1 homolog (S. cerevisiae) (DEM1), mRNA. 50 DNA binding|exonuclease activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|urinary_tract(2) 10 CTTCTGAATCCCTTGGGAAGG 0.418000 62 22 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127334785 127334785 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:127334785G>A uc003ejp.3 + 8 1566 c.1509G>A c.(1507-1509)gaG>gaA p.E503E MCM2_uc011bkm.2_Silent_p.E373E|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Silent_p.E456E NM_004526 NP_004517 P49736 MCM2_HUMAN Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA. 503 MCM. DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex|chromatin ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 TCGGAGGGGAGCCCAAAAACC 0.527000 95 5 0 0 1 0 0 DDX59 83479 broad.mit.edu 37 1 200635639 200635639 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:200635639G>A uc009wzk.3 - 1 473 c.230C>T c.(229-231)cCc>cTc p.P77L DDX59_uc010ppl.1_Missense_Mutation_p.P77L NM_001031725 NP_001026895 Q5T1V6 DDX59_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA. 77 P -> T (in a breast cancer sample; somatic mutation). intracellular ATP binding|ATP-dependent helicase activity|RNA binding|metal ion binding p.P77T(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3) 21 ACCCTGCTCGGGACTTACTGA 0.547000 69 13 0 0 1 0 0 C2orf65 130951 broad.mit.edu 37 2 74808960 74808960 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:74808960C>T uc002smy.3 - 4 727 c.610G>A c.(610-612)Gga>Aga p.G204R C2orf65_uc010ysa.2_Missense_Mutation_p.G204R|C2orf65_uc002smz.2_Missense_Mutation_p.G204R NM_138804 NP_620159 Q8TC57 CB065_HUMAN Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA. 204 RNA processing|chromatin assembly|female gamete generation|spermatogenesis integral to membrane endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 21 ATGTCAGTTCCCAGAATAGAA 0.338000 42 10 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39265030 39265030 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:39265030C>T uc001uwv.3 + 0 3858 c.3549C>T c.(3547-3549)atC>atT p.I1183I NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 1183 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CCATTGTAATCATTCCCACCA 0.428000 83 20 0 0 1 0 0 CHRM4 1132 broad.mit.edu 37 11 46406977 46406977 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:46406977G>A uc001nct.1 - 0 1131 c.1131C>T c.(1129-1131)ttC>ttT p.F377F NM_000741 NP_000732 P08173 ACM4_HUMAN Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA. 377 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) CGATGCTGGCGAACTTGCGGG 0.612000 121 12 0 0 1 0 0 CCDC153 283152 broad.mit.edu 37 11 119061433 119061433 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:119061433C>T uc010rze.2 - 5 680 c.466G>A c.(466-468)Gag>Aag p.E156K NM_001145018 NP_001138490 Q494R4 CC153_HUMAN Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA. 156 lung(3)|stomach(1) 4 AAGATTTCCTCATACTTCGCC 0.607000 81 7 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46898295 46898295 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:46898295C>T uc001ndn.4 - 24 3607 c.3364_splice c.e24+1 p.G1122_splice NM_002334 NP_002325 O75096 LRP4_HUMAN Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA. 1122 Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) GAAGGCCCACCTGTGGTGATG 0.537000 103 11 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51613141 51613141 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:51613141G>A uc003pah.1 - 57 9549 c.9273C>T c.(9271-9273)ctC>ctT p.L3091L PKHD1_uc010jzn.1_Silent_p.L1074L|PKHD1_uc003pai.3_Silent_p.L3091L NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 3091 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CGTTGCCATGGAGGTTGATGT 0.502000 39 5 0 0 1 0 0 NOD2 64127 broad.mit.edu 37 16 50759401 50759401 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:50759401C>T uc002egm.1 + 10 2988 c.2883_splice c.e10-1 p.C961_splice NOD2_uc010vgq.1_Splice_Site_p.C6_splice NM_022162 NP_071445 Q9HC29 NOD2_HUMAN Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA. 961 JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) TCTCACCAGCCTGGAGGAGAA 0.413000 61 7 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48416352 48416352 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:48416352C>T uc001jfa.1 - 0 502 c.342G>A c.(340-342)atG>atA p.M114I NM_016204 NP_057288 Q9UK05 GDF2_HUMAN Homo sapiens growth differentiation factor 2 (GDF2), mRNA. 114 BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 CCCTACCTTCCATGCTGAAGC 0.602000 64 6 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106725351 106725351 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:106725351G>A uc021ser.1 - 927 c.22161C>T Parts of antibodies, mostly variable regions. TAATAGCTGAGACCCACTCCA 0.572000 127 9 0 0 1 0 0 GIPC1 10755 broad.mit.edu 37 19 14589289 14589290 + Missense_Mutation DNP GG AT AT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:14589289_14589290GG>AT uc002myt.3 - 8 1210_1211 c.940_941CC>AT c.(940-942)cct>ATt p.P314I GIPC1_uc002myv.3_Missense_Mutation_p.P217I|GIPC1_uc002myu.3_Missense_Mutation_p.P314I|GIPC1_uc002myw.3_Missense_Mutation_p.P217I|GIPC1_uc002myx.3_Missense_Mutation_p.P314I|GIPC1_uc002myy.3_Missense_Mutation_p.P217I NM_005716 NP_974223 O14908 GIPC1_HUMAN Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA. 314 G-protein coupled receptor protein signaling pathway|endothelial cell migration|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 GAACTCGTCAGGGAAGGCAAAG 0.644000 35 4 0 0 1 0 0 C6orf195 154386 broad.mit.edu 37 6 2623830 2623830 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:2623830G>A uc003mtw.2 - 2 1212 c.227C>T c.(226-228)tCt>tTt p.S76F C6orf195_uc021ykp.1_Missense_Mutation_p.S76F NM_152554 NP_689767 Q96MT4 CF195_HUMAN Homo sapiens chromosome 6 open reading frame 195 (C6orf195), mRNA. 76 cervix(1)|endometrium(1)|lung(2)|skin(1) 5 Ovarian(93;0.0412) all_hematologic(90;0.0895) GCAGTGGGGAGATGGGGCAGG 0.617000 85 6 0 0 1 0 0 MKX 283078 broad.mit.edu 37 10 27964478 27964478 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:27964478G>A uc001ity.4 - 5 1069 c.844C>T c.(844-846)Ctg>Ttg p.L282L MKX_uc001itx.4_Silent_p.L282L NM_173576 NP_775847 Q8IYA7 MKX_HUMAN Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA. 282 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 CCGTTTTCCAGAGTGTCTGTA 0.373000 9 4 0 0 1 0 0 PIP5K1A 8394 broad.mit.edu 37 1 151206841 151206841 + Missense_Mutation SNP T G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:151206841T>G uc001exj.3 + 7 1260 c.808T>G c.(808-810)Tcc>Gcc p.S270A PIP5K1A_uc021oyo.1_Missense_Mutation_p.S258A|PIP5K1A_uc001exi.3_Missense_Mutation_p.S257A|PIP5K1A_uc010pcu.2_Missense_Mutation_p.S258A|PIP5K1A_uc001exk.3_Missense_Mutation_p.S257A|PIP5K1A_uc010pcv.2_Missense_Mutation_p.S27A NM_001135638 NP_001129110 Q99755 PI51A_HUMAN Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A), transcript variant 1, mRNA. 270 PIPK. phospholipid biosynthetic process|signal transduction Golgi stack|endomembrane system|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1) 5 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) ACGGCGGGCTTCCCAGAAAGA 0.428000 42 5 0 0 1 0 0 STX16 8675 broad.mit.edu 37 20 57246282 57246282 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:57246282C>T uc002xzi.3 + 6 1475 c.721C>T c.(721-723)Cgc>Tgc p.R241C STX16_uc021wfi.1_Missense_Mutation_p.R188C|STX16_uc002xzk.3_Missense_Mutation_p.R224C|STX16_uc010zzq.2_Missense_Mutation_p.R55C|STX16_uc002xzl.3_Missense_Mutation_p.R55C|STX16_uc002xzm.3_Missense_Mutation_p.R237C|STX16_uc002xzj.3_Missense_Mutation_p.R220C|STX16_uc021wfj.1_Missense_Mutation_p.R55C NM_001001433 NP_001191797 O14662 STX16_HUMAN Homo sapiens syntaxin 16 (STX16), transcript variant 1, mRNA. 241 t-SNARE coiled-coil homology. intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|SNARE complex|integral to membrane|microsome SNAP receptor activity breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1) 17 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05) ACGAGAGATTCGCCAGATTGT 0.483000 67 20 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1041405 1041405 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:1041405C>T uc002lqw.4 + 1 276 c.45C>T c.(43-45)ttC>ttT p.F15F ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.3_Silent_p.F15F NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA. 15 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAAGAATTTCATGTATCGCC 0.632000 97 11 0 0 1 0 0 FBXL13 222235 broad.mit.edu 37 7 102553616 102553616 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:102553616A>G uc003vaq.2 - 10 1352 c.925T>C c.(925-927)Ttc>Ctc p.F309L FBXL13_uc010liq.1_Missense_Mutation_p.F124L|FBXL13_uc010lir.1_Missense_Mutation_p.F309L|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.F309L|LRRC17_uc003vat.3_Intron|LRRC17_uc003vau.3_Intron NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA. 309 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 TTGTCTGTGAACCGTCTGCAA 0.438000 30 5 0 0 1 0 0 NXF3 56000 broad.mit.edu 37 X 102338148 102338148 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:102338148C>T uc004eju.3 - 5 665 c.594G>A c.(592-594)ctG>ctA p.L198L NXF3_uc010noi.1_Silent_p.L48L|NXF3_uc011mrw.1_Silent_p.L198L|NXF3_uc011mrx.1_Silent_p.L109L NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA. 198 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 TTTCTGACTTCAGCTCCCTGT 0.502000 35 7 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19498640 19498640 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:19498640C>T uc002dgc.4 + 16 3314 c.2565C>T c.(2563-2565)acC>acT p.T855T TMC5_uc010vaq.2_Silent_p.T803T|TMC5_uc002dgb.4_Silent_p.T855T|TMC5_uc010var.2_Silent_p.T855T|TMC5_uc002dgd.1_Silent_p.T609T|TMC5_uc002dge.4_Silent_p.T609T|TMC5_uc002dgf.4_Silent_p.T538T|TMC5_uc002dgg.4_Silent_p.T496T NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 855 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TGGCCATCACCATCTGGAGGT 0.507000 28 4 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34049413 34049413 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:34049413C>T uc001bxm.1 - 46 7246 c.7069G>A c.(7069-7071)Gag>Aag p.E2357K CSMD2_uc001bxn.1_Missense_Mutation_p.E2359K NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2359 CUB 14. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTCAGAAGCTCATTTGTTGGA 0.512000 57 11 0 0 1 0 0 SELE 6401 broad.mit.edu 37 1 169697039 169697040 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:169697039_169697040GG>AA uc001ggm.4 - 8 1465_1466 c.1308_1309CC>TT c.(1306-1311)cccccg>ccTTcg p.P437S C1orf112_uc001ggj.3_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN Homo sapiens selectin E (SELE), mRNA. 437 Sushi 5. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) AAACCCTTCGGGGGCTGGTGGA 0.490000 36 4 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41548061 41548061 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:41548061C>A uc003xok.3 - 31 3999 c.3915G>T c.(3913-3915)aaG>aaT p.K1305N NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.K621N|ANK1_uc003xoi.3_Missense_Mutation_p.K1305N|ANK1_uc003xoj.3_Missense_Mutation_p.K1305N|ANK1_uc003xol.3_Missense_Mutation_p.K1305N|ANK1_uc003xom.3_Missense_Mutation_p.K1346N NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 1305 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GGGCAGCTTTCTTCACAGGCA 0.557000 102 6 0.0293803 0.029572 1 1 0 SNRK 54861 broad.mit.edu 37 3 43388920 43388920 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:43388920C>T uc003cms.4 + 6 1501 c.1169C>T c.(1168-1170)tCt>tTt p.S390F SNRK_uc003cmt.4_Missense_Mutation_p.S390F|SNRK_uc010hik.3_Missense_Mutation_p.S390F|SNRK_uc011azr.2_Missense_Mutation_p.S184F NM_017719 NP_060189 Q9NRH2 SNRK_HUMAN Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA. 390 myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) GTCCCTCAGTCTCCTGCTCGG 0.557000 62 6 0 0 1 0 0 MSX1 4487 broad.mit.edu 37 4 4864557 4864557 + Missense_Mutation SNP C A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:4864557C>A uc003gif.3 + 1 834 c.599C>A c.(598-600)gCc>gAc p.A200D NM_002448 NP_002439 P28360 MSX1_HUMAN Homo sapiens msh homeobox 1 (MSX1), mRNA. 194 apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization nucleus p53 binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 11 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CTGTCCATCGCCGAGCGCGCG 0.622000 59 11 0.00136819 0.00138032 1 1 0 LRRC43 254050 broad.mit.edu 37 12 122685385 122685385 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:122685385C>T uc009zxm.3 + 9 1738 c.1713C>T c.(1711-1713)atC>atT p.I571I LRRC43_uc001ubw.4_Silent_p.I386I|LRRC43_uc009zxn.3_Silent_p.I332I|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank NM_001098519 NP_689972 Q8N309 LRC43_HUMAN Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA. 571 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) GCCTGGTGATCCTGGAGCCCC 0.662000 63 6 0 0 1 0 0 SERPINB5 5268 broad.mit.edu 37 18 61160312 61160312 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:61160312C>T uc002liz.4 + 4 693 c.551C>T c.(550-552)cCt>cTt p.P184L SERPINB5_uc002liy.2_Missense_Mutation_p.P184L NM_002639 NP_002630 P36952 SPB5_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 5 (SERPINB5), mRNA. 184 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 12 AAAGAATGTCCTTTCAGAGTC 0.408000 52 5 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 70255385 70255385 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:70255385C>T uc003tvw.4 + 18 3918 c.3183C>T c.(3181-3183)ttC>ttT p.F1061F AUTS2_uc003tvx.4_Silent_p.F1037F|AUTS2_uc011keg.2_Silent_p.F513F NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA. 1061 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GAGAGCGCTTCCCGTACCCTT 0.622000 20 4 0 0 1 0 0 CPEB2 132864 broad.mit.edu 37 4 15060078 15060078 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:15060078C>T uc003gnk.2 + 8 2495 c.2495C>T c.(2494-2496)tCa>tTa p.S832L CPEB2_uc003gnl.2_Missense_Mutation_p.S805L|CPEB2_uc003gnm.2_Missense_Mutation_p.S802L|CPEB2_uc003gni.2_Missense_Mutation_p.S824L|CPEB2_uc003gnn.2_Missense_Mutation_p.S797L|CPEB2_uc003gnj.2_Missense_Mutation_p.S794L NM_001177382 NP_001170853 Q7Z5Q1 CPEB2_HUMAN Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA. 387 regulation of translation cytoplasm RNA binding|nucleotide binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3) 14 GAAGAGAGCTCAGTTCAGGCA 0.378000 16 4 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54760447 54760447 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:54760447G>A uc010yer.1 - 2 371 c.260C>T c.(259-261)tCc>tTc p.S87F LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.S87F|LILRB5_uc002qez.3_Missense_Mutation_p.S87F|LILRB5_uc002qex.3_Missense_Mutation_p.S87F|LILRB5_uc002qfa.1_Missense_Mutation_p.S77F|LILRB5_uc010yes.1_Non-coding_Transcript O75023 LIRB5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA. 87 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity p.S87F(6)|p.S87S(1) NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ATACACCGTGGATGGAATGTG 0.607000 203 23 0 0 1 0 0 NONO 4841 broad.mit.edu 37 X 70519861 70519861 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:70519861C>T uc004dzo.3 + 12 2061 c.1351C>T c.(1351-1353)Cct>Tct p.P451S BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.P451S|NONO_uc004dzp.3_Missense_Mutation_p.P451S|NONO_uc011mpv.2_Missense_Mutation_p.P362S|NONO_uc004dzq.3_Missense_Mutation_p.P320S|ITGB1BP2_uc004dzr.1_5'Flank|ITGB1BP2_uc004dzs.1_5'Flank NM_001145408 NP_001138882 Q15233 NONO_HUMAN Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA. 451 DNA recombination|DNA repair|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|RNA binding|identical protein binding|nucleotide binding NONO/TFE3(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 19 Renal(35;0.156) TGGTGGAACTCCTCCTGCATT 0.463000 T TFE3 papillary renal cancer 40 6 0 0 1 0 0 CPNE8 144402 broad.mit.edu 37 12 39223219 39223219 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:39223219G>A uc001rls.1 - 5 453 c.369C>T c.(367-369)atC>atT p.I123I NM_153634 NP_705898 Q86YQ8 CPNE8_HUMAN Homo sapiens copine VIII (CPNE8), mRNA. 123 p.?(1) NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) GTGAACCAACGATCTCTCCCA 0.328000 67 7 0 0 1 0 0 LYZL4 131375 broad.mit.edu 37 3 42448644 42448644 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:42448644C>T uc003cle.3 - 1 349 c.100G>A c.(100-102)Gga>Aga p.G34R NM_144634 NP_653235 Q96KX0 LYZL4_HUMAN Homo sapiens lysozyme-like 4 (LYZL4), mRNA. 34 cell wall macromolecule catabolic process extracellular region lysozyme activity central_nervous_system(1)|endometrium(1)|lung(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.222) TCCAGGCCTCCATCGTGGAGT 0.547000 42 6 0 0 1 0 0 CASQ1 844 broad.mit.edu 37 1 160165264 160165264 + Silent SNP C T T rs141157148 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:160165264C>T uc010pja.2 + 4 848 c.591C>T c.(589-591)ttC>ttT p.F197F NM_001231 NP_001222 P31415 CASQ1_HUMAN Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA. 197 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACAAAGCCTTCGAGGATGCAG 0.557000 74 12 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91755687 91755687 + Splice_Site SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:91755687C>T uc010aty.3 - 25 4357 c.4203_splice c.e25-1 p.K1401_splice NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA. 1401 Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation cytoplasm|insoluble fraction PDZ domain binding|microtubule binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) AGTGGTTCTTCCTGGTTAGAA 0.527000 181 33 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136575245 136575245 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:136575245G>A uc002tuu.1 - 5 1384 c.1373C>T c.(1372-1374)tCc>tTc p.S458F NM_002299 NP_002290 P09848 LPH_HUMAN Homo sapiens lactase (LCT), mRNA. 458 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GAAGATCCGGGACCAGGAGAT 0.627000 69 7 0 0 1 0 0 PRB4 5545 broad.mit.edu 37 12 11461501 11461501 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:11461501C>T uc001qzf.1 - 2 450 c.416G>A c.(415-417)gGa>gAa p.G139E PRB4_uc001qzt.3_Missense_Mutation_p.G139E NM_002723 NP_002714 P10163 PRB4_HUMAN Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA. 202 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. Missing (in allele M and allele S). extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 TTCTGGCTTTCCTGGAGGAGG 0.602000 HNSCC(22;0.051) 165 19 0 0 1 0 0 PRKCA 5578 broad.mit.edu 37 17 64641554 64641554 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:64641554G>A uc002jfo.1 + 5 559 c.67G>A c.(67-69)Gga>Aga p.G23R PRKCA_uc002jfp.1_Missense_Mutation_p.G152R P17252 KPCA_HUMAN Homo sapiens protein kinase C, alpha (PRKCA), mRNA. 152 activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) CAGCCTCTGCGGAATGGATCA 0.522000 35 9 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15302627 15302627 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:15302627C>T uc002nan.3 - 4 807 c.731G>A c.(730-732)cGa>cAa p.R244Q NOTCH3_uc002nao.1_Missense_Mutation_p.R244Q NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Homo sapiens notch 3 (NOTCH3), mRNA. 244 EGF-like 6; calcium-binding (Potential). Missing (in CADASIL). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) ATTGAGACATCGGTGTCCTGG 0.617000 66 6 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131866224 131866224 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:131866224G>A uc003vra.4 - 17 3637 c.3408C>T c.(3406-3408)ttC>ttT p.F1136F NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1136 IPT/TIG 3. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GATAGTAGGTGAAGTTGGTCT 0.572000 125 11 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187541018 187541018 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:187541018G>A uc003izf.3 - 9 6910 c.6722C>T c.(6721-6723)cCt>cTt p.P2241L NM_005245 NP_005236 Q14517 FAT1_HUMAN Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA. 2241 Cadherin 20. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AAAGTCCAGAGGAGCTATGAC 0.493000 HNSCC(5;0.00058) 135 7 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28273157 28273157 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:28273157C>T uc009xky.3 - 4 736 c.638G>A c.(637-639)gGa>gAa p.G213E ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.G213E|ARMC4_uc010qdu.1_5'Flank NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 213 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GTTTCCTTTTCCTGAGAAACG 0.308000 27 7 0 0 1 0 0 ZC3H8 84524 broad.mit.edu 37 2 112996074 112996074 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:112996074G>A uc021vmw.1 - 2 294 c.188C>T c.(187-189)tCg>tTg p.S63L NM_032494 NP_115883 Q8N5P1 ZC3H8_HUMAN Homo sapiens zinc finger CCCH-type containing 8 (ZC3H8), mRNA. 63 T cell homeostasis|apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic nucleus RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 7 TCTATGCAGCGAACTTTTTGG 0.318000 68 5 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223178811 223178811 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:223178811C>T uc001hnu.2 + 9 4398 c.4072C>T c.(4072-4074)Cac>Tac p.H1358Y NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 1358 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TTTTTTCCTCCACCCAGTGCA 0.512000 293 21 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73746258 73746258 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:73746258G>A uc002jpg.3 + 27 3570 c.3383G>A c.(3382-3384)gGc>gAc p.G1128D ITGB4_uc002jph.3_Missense_Mutation_p.G1128D|ITGB4_uc002jpi.4_Missense_Mutation_p.G1128D|ITGB4_uc002jpj.3_Missense_Mutation_p.G1128D NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 1128 Fibronectin type-III 1. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GGCGACCTGGGCGCCCCGCAG 0.617000 OREG0024739 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 74 12 0 0 1 0 0 QPRT 23475 broad.mit.edu 37 16 29706143 29706143 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:29706143C>T uc002dto.3 + 1 250 c.172C>T c.(172-174)Cct>Tct p.P58S BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.2_Intron NM_014298 NP_055113 Q15274 NADC_HUMAN Homo sapiens quinolinate phosphoribosyltransferase (QPRT), mRNA. 58 protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process cytosol nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 Niacin(DB00627) GGCAGGGCAGCCTTTCTTCGA 0.647000 113 8 0 0 1 0 0 DDI1 414301 broad.mit.edu 37 11 103907695 103907695 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:103907695C>T uc001phr.2 + 0 388 c.145C>T c.(145-147)Cac>Tac p.H49Y PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA. 49 Ubiquitin-like. proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) CCAGATCATCCACATGGAGCG 0.562000 89 8 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123159367 123159367 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:123159367C>T uc003ieh.3 + 25 3740 c.3695C>T c.(3694-3696)tCc>tTc p.S1232F KIAA1109_uc003iei.1_Missense_Mutation_p.S985F|KIAA1109_uc010ins.1_Missense_Mutation_p.S575F|KIAA1109_uc003iek.2_5'Flank NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 1232 Poly-Ser. regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TCATCCTCTTCCTCAGAAGAG 0.413000 37 7 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33881473 33881473 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:33881473C>T uc003jia.1 - 1 403 c.240G>A c.(238-240)agG>agA p.R80R ADAMTS12_uc010iuq.1_Silent_p.R80R|ADAMTS12_uc003jib.1_Silent_p.R80R NM_030955 NP_112217 P58397 ATS12_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA. 80 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 AATCTCTCTTCCTCCTGCTGC 0.488000 HNSCC(64;0.19) 60 12 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43484986 43484986 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:43484986G>A uc003tid.1 + 10 2820 c.2215G>A c.(2215-2217)Gag>Aag p.E739K HECW1_uc011kbi.1_Missense_Mutation_p.E739K NM_015052 NP_055867 Q76N89 HECW1_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA. 739 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity p.E718*(1)|p.E739*(1) NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GCAAGACGACGAGGAGGAGGA 0.642000 94 14 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161157941 161157941 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:161157941G>A uc003qtm.4 + 13 1816 c.1704G>A c.(1702-1704)ggG>ggA p.G568G NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 568 extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TTGATTGTGGGAAGCCTCAAG 0.507000 23 4 0 0 1 0 0 ICAM4 3386 broad.mit.edu 37 19 10397703 10397703 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:10397703C>T uc002mnr.2 + 0 61 c.15C>T c.(13-15)ttC>ttT p.F5F ICAM4_uc002mns.2_Silent_p.F5F|ICAM4_uc002mnt.2_Silent_p.F5F|ICAM5_uc002mnu.4_5'Flank NM_001039132 NP_001034221 Q14773 ICAM4_HUMAN Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA. 5 cell-cell adhesion|regulation of immune response extracellular region|integral to membrane|plasma membrane integrin binding breast(1)|large_intestine(3)|lung(2)|pancreas(1) 7 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) GGTCTCTGTTCCCTCTGTCGC 0.672000 20 4 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1054255 1054255 + Missense_Mutation SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:1054255G>T uc002lqw.4 + 26 3872 c.3641G>T c.(3640-3642)tGg>tTg p.W1214L ABCA7_uc010dsb.1_Missense_Mutation_p.W1076L|ABCA7_uc002lqy.3_5'Flank NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA. 1214 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTACAGGGCTGGGCACTGACC 0.692000 29 5 0.000602214 0.000607816 1 1 0 FAM123C 205147 broad.mit.edu 37 2 131520713 131520713 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:131520713G>A uc021voy.1 + 0 1068 c.1068G>A c.(1066-1068)agG>agA p.R356R FAM123C_uc002trw.2_Silent_p.R356R|FAM123C_uc010fmv.2_Silent_p.R356R|FAM123C_uc010fms.1_Silent_p.R356R|FAM123C_uc010fmt.1_Silent_p.R356R|FAM123C_uc010fmu.1_Silent_p.R356R NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 356 breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GCCCCTGCAGGGACCCTCGCA 0.657000 42 6 0 0 1 0 0 GCKR 2646 broad.mit.edu 37 2 27745392 27745392 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:27745392G>A uc002rky.3 + 17 1704 c.1638G>A c.(1636-1638)caG>caA p.Q546Q GCKR_uc010ezd.3_Silent_p.Q544Q|GCKR_uc010ylu.2_Silent_p.Q356Q NM_001486 NP_001477 Q14397 GCKR_HUMAN Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA. 546 carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) ACTTTCCCCAGCCACTGTCAG 0.532000 116 9 0 0 1 0 0 abParts 0 broad.mit.edu 37 22 22764309 22764309 + RNA SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:22764309C>T uc021wml.1 + 63 c.6911C>T Parts of antibodies, mostly variable regions. TTCCAGGGTCCTGGGCCCAGT 0.617000 OREG0026360 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 160 12 0 0 1 0 0 ZNF418 147686 broad.mit.edu 37 19 58437563 58437563 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:58437563G>A uc002qqs.1 - 3 2278 c.1986C>T c.(1984-1986)ctC>ctT p.L662L ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Silent_p.L577L NM_133460 NP_597717 Q8TF45 ZN418_HUMAN Homo sapiens zinc finger protein 418 (ZNF418), mRNA. 662 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) GATGTCGAAGGAGAGAAGAGC 0.413000 53 6 0 0 1 0 0 TTC33 23548 broad.mit.edu 37 5 40746990 40746990 + Missense_Mutation SNP A T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:40746990A>T uc003jma.3 - 1 279 c.131T>A c.(130-132)aTt>aAt p.I44N TTC33_uc011cpm.2_5'UTR|TTC33_uc010ivg.3_Missense_Mutation_p.I44N NM_012382 NP_036514 Q6PID6 TTC33_HUMAN Homo sapiens tetratricopeptide repeat domain 33 (TTC33), mRNA. 44 binding NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1) 11 CCTACGTTTAATGGCATGAAG 0.428000 24 5 0 0 1 0 0 TMEM190 147744 broad.mit.edu 37 19 55888983 55888983 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:55888983C>T uc002qkt.1 + 2 135 c.117C>T c.(115-117)gaC>gaT p.D39D NM_139172 NP_631911 Q8WZ59 TM190_HUMAN Homo sapiens transmembrane protein 190 (TMEM190), mRNA. 39 P-type. integral to membrane large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 5 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) ACATATGGGACCGGGAGAGCT 0.632000 161 10 0 0 1 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6473933 6473933 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:6473933C>T uc003gjc.3 - 0 241 c.24G>A c.(22-24)cgG>cgA p.R8R PPP2R2C_uc011bwd.2_Intron|PPP2R2C_uc011bwe.2_Intron NM_001206996 NP_001193925 Q9Y2T4 2ABG_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 5, mRNA. 8 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 GGTTAATTTTCCGCGTGTCCG 0.667000 160 10 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95603750 95603750 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:95603750G>A uc001tdp.4 - 1 1534 c.1310C>T c.(1309-1311)tCg>tTg p.S437L FGD6_uc009zsx.3_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA. 437 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 CACAGCAAGCGACATACTAGA 0.393000 51 9 0 0 1 0 0 ALOX15 246 broad.mit.edu 37 17 4534978 4534978 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:4534978C>T uc002fyh.3 - 13 1931 c.1906G>A c.(1906-1908)Gaa>Aaa p.E636K ALOX15_uc010vsd.2_Missense_Mutation_p.E597K|ALOX15_uc010vse.2_Missense_Mutation_p.E658K NM_001140 NP_001131 P16050 LOX15_HUMAN Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA. 636 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity p.K635K(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) ATCTCAATTTCCTTATCCAGG 0.577000 132 8 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65490098 65490098 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:65490098G>A uc002aon.2 - 8 2707 c.2526C>T c.(2524-2526)ttC>ttT p.F842F NM_003613 NP_003604 O75339 CILP1_HUMAN Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA. 842 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CATTTGGGTTGAATTTAGGAG 0.527000 88 9 0 0 1 0 0 NPY1R 4886 broad.mit.edu 37 4 164247634 164247634 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:164247634G>A uc003iqm.2 - 1 538 c.73C>T c.(73-75)Ctt>Ttt p.L25F NPY1R_uc021xtv.1_Missense_Mutation_p.L25F|NPY1R_uc011cjj.2_Intron NM_000909 NP_000900 P25929 NPY1R_HUMAN Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA. 25 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) AAAGCCAGAAGCTGGGCATTC 0.373000 26 8 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156642846 156642846 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:156642846G>A uc001fpq.3 - 3 1267 c.1134C>T c.(1132-1134)ctC>ctT p.L378L NES_uc021pbh.1_5'Flank NM_006617 NP_006608 P48681 NEST_HUMAN Homo sapiens nestin (NES), mRNA. 378 Tail. G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TACGGGCCTGGAGGAATTCTT 0.597000 218 10 0 0 1 0 0 SLC12A3 6559 broad.mit.edu 37 16 56928468 56928468 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:56928468C>T uc002ekd.4 + 21 2603 c.2574C>T c.(2572-2574)ctC>ctT p.L858L SLC12A3_uc010ccm.3_Silent_p.L849L|SLC12A3_uc010ccn.3_Silent_p.L857L NM_000339 NP_000330 P55017 S12A3_HUMAN Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA. 849 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TTCCCTATCTCCTTGGCCGCA 0.557000 29 6 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169644652 169644652 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:169644652C>T uc003fgd.3 + 5 869 c.602C>T c.(601-603)tCc>tTc p.S201F SAMD7_uc003fge.3_Missense_Mutation_p.S201F|SAMD7_uc011bpo.2_Missense_Mutation_p.S102F NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 201 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GCTGAGAGTTCCAAAAGTCAA 0.463000 30 4 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3238772 3238772 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:3238772G>A uc004crg.4 - 4 5111 c.4954C>T c.(4954-4956)Cct>Tct p.P1652S NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1652 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCCCCAGAAGGATATGTAGTT 0.453000 95 9 0 0 1 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42138926 42138927 + Missense_Mutation DNP CT AC AC TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:42138926_42138927CT>AC uc001zoo.4 + 22 2573_2574 c.2533_2534CT>AC c.(2533-2535)ctg>ACg p.L845T JMJD7-PLA2G4B_uc010bcn.3_Missense_Mutation_p.L845T|JMJD7-PLA2G4B_uc001zoq.4_Missense_Mutation_p.L315T|JMJD7-PLA2G4B_uc010bco.3_Missense_Mutation_p.L614T NM_005090 NP_005081 P0C869 PA24B_HUMAN Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA. 614 arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 CCTGTGCCTGCTGGATGTTGGC 0.599000 107 15 0 0 1 0 0 SLC44A2 57153 broad.mit.edu 37 19 10742769 10742769 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:10742769C>T uc002mpf.3 + 9 899 c.760C>T c.(760-762)Cgc>Tgc p.R254C SLC44A2_uc002mpe.4_Missense_Mutation_p.R252C|SLC44A2_uc002mpg.1_5'Flank NM_020428 NP_065161 Q8IWA5 CTL2_HUMAN Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA. 254 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) CATCCTGCTTCGCTTCCTGGC 0.547000 204 45 0 0 1 0 0 OSM 5008 broad.mit.edu 37 22 30659890 30659890 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:30659890C>T uc003ahb.3 - 2 782 c.741G>A c.(739-741)agG>agA p.R247R NM_020530 NP_065391 P13725 ONCM_HUMAN Homo sapiens oncostatin M (OSM), mRNA. 247 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3) 11 Epithelial(10;0.206) GCAGCTGTCCCCTGGTCATGA 0.657000 139 8 0 0 1 0 0 PRDM5 11107 broad.mit.edu 37 4 121774621 121774621 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:121774621G>A uc003idn.3 - 2 502 c.252C>T c.(250-252)ttC>ttT p.F84F PRDM5_uc003ido.3_Silent_p.F84F|PRDM5_uc010ine.3_Silent_p.F84F|PRDM5_uc010inf.3_Silent_p.F84F|PRDM5_uc003idp.1_Silent_p.F84F NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN Homo sapiens PR domain containing 5 (PRDM5), mRNA. 84 SET. histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CCTCATGAACGAAGCGAAGCC 0.468000 139 18 0 0 1 0 0 PAX7 5081 broad.mit.edu 37 1 18961014 18961014 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:18961014C>T uc001bay.3 + 1 901 c.303C>T c.(301-303)atC>atT p.I101I PAX7_uc001baz.3_Silent_p.I101I|PAX7_uc010oct.2_Silent_p.I101I NM_002584 NP_002575 P23759 PAX7_HUMAN Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA. 101 Paired. anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2) 31 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) CTGGGGCCATCGGCGGCAGCA 0.637000 T FOXO1A alveolar rhabdomyosarcoma 37 20 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37307487 37307487 + Silent SNP G A A rs140524228 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:37307487G>A uc001caz.2 - 9 1515 c.1380C>T c.(1378-1380)gaC>gaT p.D460D GRIK3_uc001cba.1_Silent_p.D460D NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 460 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CCTCGAACCGGTCATTCCCGT 0.577000 138 27 0 0 1 0 0 SLC1A2 6506 broad.mit.edu 37 11 35339031 35339031 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:35339031C>T uc001mwd.3 - 1 642 c.50G>A c.(49-51)cGa>cAa p.R17Q SLC1A2_uc021qfx.1_Missense_Mutation_p.R8Q|SLC1A2_uc001mwe.3_Missense_Mutation_p.R8Q|SLC1A2_uc010rev.1_Missense_Mutation_p.R17Q|SLC1A2_uc021qfy.1_Missense_Mutation_p.R62Q NM_004171 NP_001239581 P43004 EAA2_HUMAN Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA. 17 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1) 24 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) GTCGTGCATTCGCACTTCCAC 0.567000 226 12 0 0 1 0 0 MC3R 4159 broad.mit.edu 37 20 54824203 54824203 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:54824203C>T uc002xxb.2 + 0 416 c.304C>T c.(304-306)Cac>Tac p.H102Y NM_019888 NP_063941 P41968 MC3R_HUMAN Homo sapiens melanocortin 3 receptor (MC3R), mRNA. 139 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) CGCCATCGTCCACAGCGACTA 0.557000 34 8 0 0 1 0 0 RAB4B 53916 broad.mit.edu 37 19 41285941 41285941 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:41285941C>T uc002opd.2 + 1 191 c.34C>T c.(34-36)Ctg>Ttg p.L12L RAB4B_uc010xvt.1_Non-coding_Transcript|RAB4B_uc002opc.2_Non-coding_Transcript|RAB4B_uc002ope.2_Non-coding_Transcript|EGLN2_uc010ehd.3_5'UTR|RAB4B_uc002opf.2_Silent_p.L38L NM_016154 NP_057238 P61018 RAB4B_HUMAN Homo sapiens RAB4B, member RAS oncogene family (RAB4B), mRNA. 12 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport intracellular|plasma membrane GTP binding|GTPase activity endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 11 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CTTCAAATTCCTGGTGATTGG 0.473000 80 15 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44578779 44578779 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:44578779C>T uc003tlb.3 - 1 1273 c.1217G>A c.(1216-1218)cGa>cAa p.R406Q NPC1L1_uc011kbw.2_Missense_Mutation_p.R406Q|NPC1L1_uc003tlc.3_Missense_Mutation_p.R406Q|NPC1L1_uc003tld.3_Missense_Mutation_p.R406Q NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 406 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) CTGGTTGGTTCGGAAGAAGGG 0.592000 135 6 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021797 132021797 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:132021797C>T uc002tsn.2 + 14 2821 c.2769C>T c.(2767-2769)ttC>ttT p.F923F PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.F523F|POTEE_uc002tsl.2_Silent_p.F505F|POTEE_uc010fmy.1_Silent_p.F387F NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 923 Actin-like. ATP binding CCCTGGACTTCGAGCAGGAGA 0.597000 179 16 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50845250 50845250 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:50845250C>T uc003blb.2 + 4 782 c.360C>T c.(358-360)ctC>ctT p.L120L PPP6R2_uc003blc.3_Silent_p.L120L|PPP6R2_uc003bky.2_Silent_p.L120L|PPP6R2_uc003bla.2_Silent_p.L120L|PPP6R2_uc003bkz.2_Silent_p.L120L NM_001242898 NP_001229827 O75170 PP6R2_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA. 120 cytoplasm|intracellular membrane-bounded organelle protein binding p.L120L(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 ATCCTCTGCTCGCCAGTTTTT 0.557000 360 27 0 0 1 0 0 SYBU 55638 broad.mit.edu 37 8 110592132 110592132 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:110592132C>T uc010mcp.3 - 5 992 c.630G>A c.(628-630)agG>agA p.R210R SYBU_uc003yni.4_Silent_p.R207R|SYBU_uc003ynk.4_Silent_p.R91R|SYBU_uc003ynj.4_Silent_p.R210R|SYBU_uc010mco.3_Silent_p.R209R|SYBU_uc003ynl.4_Silent_p.R209R|SYBU_uc010mcq.3_Silent_p.R210R|SYBU_uc003yno.4_Silent_p.R91R|SYBU_uc010mcr.3_Silent_p.R210R|SYBU_uc003ynm.4_Silent_p.R209R|SYBU_uc003ynn.4_Silent_p.R209R|SYBU_uc010mcs.3_Silent_p.R91R|SYBU_uc010mct.3_Silent_p.R210R|SYBU_uc010mcu.3_Silent_p.R209R|SYBU_uc003ynp.4_Silent_p.R142R|SYBU_uc010mcv.3_Silent_p.R210R|SYBU_uc003ynh.4_Silent_p.R4R|SYBU_uc011lhw.2_Silent_p.R80R NM_001099752 NP_001093225 Q9NX95 SYBU_HUMAN Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA. 210 Ser-rich.|Sufficient for interaction with KIF5B. Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane p.L210L(1) NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 TCAGCTGATTCCTGCACAGCA 0.557000 111 8 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18022636 18022636 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:18022636C>T uc021trm.1 + 0 741 c.522C>T c.(520-522)ttC>ttT p.F174F MYO15A_uc021trl.1_Silent_p.F174F NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 174 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) AACTCCCCTTCCCGTCGGGTG 0.711000 38 9 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73415021 73415021 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:73415021C>T uc002avm.4 + 2 796 c.604C>T c.(604-606)Cca>Tca p.P202S NEO1_uc010ukx.2_Missense_Mutation_p.P202S|NEO1_uc010uky.2_Missense_Mutation_p.P202S|NEO1_uc002avn.4_Missense_Mutation_p.P202S|NEO1_uc010ukz.2_5'UTR NM_002499 NP_002490 Q92859 NEO1_HUMAN Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA. 202 Ig-like C2-type 2. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 TATCAAACTTCCAAGTGGAAT 0.448000 25 4 0 0 1 0 0 SLC2A12 154091 broad.mit.edu 37 6 134350803 134350803 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:134350803C>T uc003qem.1 - 1 331 c.160G>A c.(160-162)Gtg>Atg p.V54M NM_145176 NP_660159 Q8TD20 GTR12_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA. 54 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) TCATAACCCACCAGGAGGCCA 0.522000 31 4 0 0 1 0 0 STIL 6491 broad.mit.edu 37 1 47770613 47770613 + Missense_Mutation SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:47770613A>G uc001crd.1 - 2 255 c.100T>C c.(100-102)Tgg>Cgg p.W34R TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.W34R|STIL_uc010omo.1_Missense_Mutation_p.W34R|STIL_uc001crc.1_Missense_Mutation_p.W34R|STIL_uc001cre.1_Missense_Mutation_p.W34R|STIL_uc001crg.1_Missense_Mutation_p.W34R NM_001048166 NP_001041631 Q15468 STIL_HUMAN Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA. 34 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) GTTGGGTTCCAAAGTGCACAT 0.358000 22 8 0 0 1 0 0 HNRNPA3P1 10151 broad.mit.edu 37 10 44285122 44285122 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:44285122G>A uc010qfe.1 - 0 744 c.714C>T c.(712-714)ggC>ggT p.G238G Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA. ttccatcacggccaaaattac 0.522000 46 10 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57951298 57951298 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:57951298G>A uc002emt.2 - 20 2105 c.2040C>T c.(2038-2040)ttC>ttT p.F680F CNGB1_uc010cdh.2_Silent_p.F674F NM_001297 NP_001288 Q14028 CNGB1_HUMAN Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA. 680 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 TCTGGTAGGGGAAGGCCCAGC 0.562000 103 7 0 0 1 0 0 TSHR 7253 broad.mit.edu 37 14 81558908 81558908 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:81558908C>T uc001xvd.1 + 5 657 c.501C>T c.(499-501)atC>atT p.I167I TSHR_uc001xvb.1_Silent_p.I167I|TSHR_uc001xvc.3_Silent_p.I167I|TSHR_uc010tvs.2_Silent_p.I167I NM_000369 NP_000360 P16473 TSHR_HUMAN Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA. 167 I -> N (in CHNG1). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) TGACGTCAATCCCTGTGAATG 0.408000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 25 3 0 0 1 0 0 C4orf50 389197 broad.mit.edu 37 4 5961201 5961201 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:5961201G>A uc003git.2 - 6 c.2030C>T Q6ZRC1 CD050_HUMAN Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772. breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 CTGGGCTCAGGAGCTCAGAGG 0.522000 64 6 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49949581 49949581 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:49949581G>A uc001ruh.1 + 11 2575 c.2315G>A c.(2314-2316)cGa>cAa p.R772Q KCNH3_uc010smj.1_Missense_Mutation_p.R712Q NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA. 772 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity p.R771H(2) NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 TCCCCACGTCGAACAGCACCC 0.692000 36 5 0 0 1 0 0 CCDC151 115948 broad.mit.edu 37 19 11541767 11541767 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:11541767G>A uc002mrs.3 - 1 461 c.318C>T c.(316-318)ctC>ctT p.L106L CCDC151_uc002mrr.3_Silent_p.L41L|CCDC151_uc010dxz.3_Silent_p.L106L NM_145045 NP_659482 A5D8V7 CC151_HUMAN Homo sapiens coiled-coil domain containing 151 (CCDC151), mRNA. 106 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 TCTCCTTGCGGAGCTGACTGA 0.572000 171 11 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76063328 76063328 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:76063328C>T uc010kbe.3 - 4 1095 c.565G>A c.(565-567)Gag>Aag p.E189K FILIP1_uc003phy.1_Missense_Mutation_p.E186K|FILIP1_uc003phz.3_Missense_Mutation_p.E87K|FILIP1_uc003pia.3_Missense_Mutation_p.E186K NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 186 p.E186K(1) breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TTATGCTTCTCGTTCTCTAAC 0.517000 88 11 0 0 1 0 0 ITGA9 3680 broad.mit.edu 37 3 37555367 37555367 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:37555367C>T uc003chd.3 + 8 1064 c.1011C>T c.(1009-1011)gtC>gtT p.V337V ITGA9_uc003chc.3_Silent_p.V337V NM_002207 NP_002198 Q13797 ITA9_HUMAN Homo sapiens integrin, alpha 9 (ITGA9), mRNA. 337 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) AGGGACAGGTCACTGTCTACA 0.582000 81 7 0 0 1 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29891227 29891227 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:29891227G>A uc010vec.2 - 8 1776 c.1531C>T c.(1531-1533)Ccc>Tcc p.P511S BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.P441S|SEZ6L2_uc002dur.4_Missense_Mutation_p.P441S|SEZ6L2_uc002duq.4_Missense_Mutation_p.P511S|SEZ6L2_uc010ved.2_Missense_Mutation_p.P467S|SEZ6L2_uc002dus.4_Missense_Mutation_p.P397S NM_001243332 NP_001230261 Q6UXD5 SE6L2_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA. 511 Sushi 2. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGTTCTGTGGGATCCACACAT 0.627000 164 30 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57766084 57766084 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:57766084C>T uc002yan.3 + 0 10 c.10C>T c.(10-12)Cca>Tca p.P4S NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 4 Pro-rich. intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AATGGAGGTTCCAGAACCCAC 0.617000 58 9 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48773927 48773927 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:48773927C>T uc001zwx.2 - 31 4284 c.3889G>A c.(3889-3891)Gaa>Aaa p.E1297K NM_000138 NP_000129 P35555 FBN1_HUMAN Homo sapiens fibrillin 1 (FBN1), mRNA. 1297 EGF-like 21; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TTCGTGTTTTCACAGGTCCCA 0.373000 32 4 0 0 1 0 0 MLLT1 4298 broad.mit.edu 37 19 6230620 6230620 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:6230620G>A uc002mek.3 - 3 545 c.381C>T c.(379-381)ccC>ccT p.P127P NM_005934 NP_005925 Q03111 ENL_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA. 127 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding p.P127P(2) endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2) 17 ACTCCGTGGTGGGGTTGTTGA 0.667000 T MLL AL 144 20 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2705123 2705123 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:2705123C>T uc009zdu.1 + 19 3060 c.2747C>T c.(2746-2748)tCc>tTc p.S916F CACNA1C_uc001qkc.2_Missense_Mutation_p.S916F|CACNA1C_uc001qjz.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkd.2_Missense_Mutation_p.S916F|CACNA1C_uc001qke.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkf.2_Missense_Mutation_p.S916F|CACNA1C_uc009zdw.1_Missense_Mutation_p.S916F|CACNA1C_uc001qkg.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkh.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkl.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkj.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkk.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkn.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkm.2_Missense_Mutation_p.S916F|CACNA1C_uc001qko.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkp.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkq.2_Missense_Mutation_p.S916F|CACNA1C_uc001qku.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkr.2_Missense_Mutation_p.S916F|CACNA1C_uc001qks.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkt.2_Missense_Mutation_p.S916F|CACNA1C_uc009zdv.1_Missense_Mutation_p.S913F|CACNA1C_uc001qkb.2_Missense_Mutation_p.S916F|CACNA1C_uc001qka.1_Missense_Mutation_p.S451F|CACNA1C_uc001qki.1_Missense_Mutation_p.S652F NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 916 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.S915P(1) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AGCAGCATTTCCCTGGCTGCT 0.582000 38 5 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208215514 208215514 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:208215514G>A uc001hgz.3 - 21 4973 c.4215C>T c.(4213-4215)ctC>ctT p.L1405L NM_025179 NP_079455 O75051 PLXA2_HUMAN Homo sapiens plexin A2 (PLXNA2), mRNA. 1405 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GCAGCTGCTTGAGGACATCAG 0.612000 53 6 0 0 1 0 0 PPEF2 5470 broad.mit.edu 37 4 76809475 76809475 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:76809475G>A uc003hix.3 - 5 781 c.424C>T c.(424-426)Cat>Tat p.H142Y PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.H142Y NM_006239 NP_006230 O14830 PPE2_HUMAN Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA. 142 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TAGCGAGCATGGAGCTGCTAC 0.473000 52 10 0 0 1 0 0 ZNF833P 401898 broad.mit.edu 37 19 11796202 11796202 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:11796202G>A uc021upi.1 + 2 818 c.142G>A c.(142-144)Gaa>Aaa p.E48K ZNF833P_uc002msl.4_Non-coding_Transcript Homo sapiens zinc finger protein 833, pseudogene (ZNF833P), non-coding RNA. p.S48R(1) endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 AGTTCCATTCGAAAACATGCA 0.353000 9 8 0 0 1 0 0 IL1A 3552 broad.mit.edu 37 2 113532692 113532692 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:113532692C>T uc002tig.3 - 6 1728 c.768G>A c.(766-768)ggG>ggA p.G256G NM_000575 NP_000566 P01583 IL1A_HUMAN Homo sapiens interleukin 1, alpha (IL1A), mRNA. 256 anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion cytosol|extracellular space copper ion binding|cytokine activity|interleukin-1 receptor binding breast(2)|large_intestine(1)|lung(9) 12 AGGGTGGCCCCCCTGCCAAGC 0.478000 47 7 0 0 1 0 0 OR10H4 126541 broad.mit.edu 37 19 16059904 16059904 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:16059904C>T uc010xov.2 + 0 87 c.87C>T c.(85-87)ttC>ttT p.F29F NM_001004465 NP_001004465 Q8NGA5 O10H4_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA. 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 CCATCTTGTTCCTGCTGTACC 0.483000 76 18 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57730924 57730924 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:57730924G>A uc010bfw.3 + 2 920 c.727G>A c.(727-729)Gag>Aag p.E243K CGNL1_uc002aeg.3_Missense_Mutation_p.E243K NM_001252335 NP_001239264 Q0VF96 CGNL1_HUMAN Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA. 243 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) CTGCACCAAGGAGAGGGTGGG 0.547000 100 6 0 0 1 0 0 PSAT1 29968 broad.mit.edu 37 9 80919828 80919828 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:80919828C>T uc004ala.3 + 3 437 c.369C>T c.(367-369)atC>atT p.I123I PSAT1_uc004alb.3_Silent_p.I123I NM_058179 NP_478059 Q9Y617 SERC_HUMAN Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA. 123 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) CTATAAATATCGTTCACCCTA 0.502000 35 6 0 0 1 0 0 DLX1 1745 broad.mit.edu 37 2 172952913 172952913 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:172952913C>T uc002uhl.3 + 2 894 c.696C>T c.(694-696)tcC>tcT p.S232S DLX1_uc002uhm.3_3'UTR NM_178120 NP_835221 P56177 DLX1_HUMAN Homo sapiens distal-less homeobox 1 (DLX1), transcript variant 1, mRNA. 232 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|lung(4)|prostate(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.216) ACGCGGGCTCCTATATCCCCA 0.617000 108 6 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35753777 35753777 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:35753777G>A uc003jjo.3 + 23 3493 c.3382G>A c.(3382-3384)Gag>Aag p.E1128K SPEF2_uc003jjp.1_Missense_Mutation_p.E614K NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1128 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGAAGAGGCGGAGCAGGAGCG 0.498000 72 21 0 0 1 0 0 IVD 3712 broad.mit.edu 37 15 40710373 40710373 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:40710373C>T uc001zls.3 + 11 1526 c.1192C>T c.(1192-1194)Cga>Tga p.R398* IVD_uc001zlq.2_Nonsense_Mutation_p.R368*|IVD_uc001zlr.2_Nonsense_Mutation_p.R101* NM_002225 NP_002216 P26440 IVD_HUMAN Homo sapiens isovaleryl-CoA dehydrogenase (IVD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 395 leucine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity kidney(1)|lung(5)|ovary(2)|prostate(1) 9 all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808) CCGCTTTCTTCGAGATGCCAA 0.527000 71 6 0 0 1 0 0 QSOX1 5768 broad.mit.edu 37 1 180153184 180153184 + Splice_Site SNP C T T rs146785605 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:180153184C>T uc001gnz.3 + 7 962 c.887_splice c.e7+1 p.R296_splice QSOX1_uc001gny.3_Splice_Site_p.R296_splice NM_002826 NP_002817 O00391 QSOX1_HUMAN Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA. 296 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 ATTGGCAGATCGGTAAGGCTA 0.542000 102 23 0 0 1 0 0 MICAL1 64780 broad.mit.edu 37 6 109768430 109768430 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:109768430G>A uc011eaq.2 - 16 2421 c.2130C>T c.(2128-2130)gcC>gcT p.A710A MICAL1_uc003ptj.3_Silent_p.A691A|MICAL1_uc003ptk.3_Silent_p.A691A|MICAL1_uc010kdr.3_Silent_p.A605A NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA. 691 LIM zinc-binding. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) CCCCAGCACCGGCCTGCGTGG 0.642000 68 5 0 0 1 0 0 C16orf58 64755 broad.mit.edu 37 16 31510727 31510727 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:31510727G>A uc002eci.2 - 5 507 c.495_splice c.e5-1 p.R165_splice C16orf58_uc010vfq.1_Splice_Site_p.R23_splice NM_022744 NP_073581 Q96GQ5 CP058_HUMAN Homo sapiens chromosome 16 open reading frame 58 (C16orf58), mRNA. 165 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1) 14 TCCGCAAAAAGCCTGGGGAGG 0.547000 57 7 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50951489 50951489 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:50951489G>A uc002psf.2 + 12 1365 c.1314G>A c.(1312-1314)caG>caA p.Q438Q NM_004533 NP_004524 Q14324 MYPC2_HUMAN Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA. 438 Ig-like C2-type 4. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CAGAGAAACAGCTGGAGGTCC 0.557000 20 5 0 0 1 0 0 SMPD1 6609 broad.mit.edu 37 11 6415775 6415775 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:6415775C>T uc001mcw.3 + 5 2019 c.1834C>T c.(1834-1836)Ctg>Ttg p.L612L SMPD1_uc021qcz.1_3'UTR|SMPD1_uc001mcv.2_Non-coding_Transcript|SMPD1_uc009yew.3_Silent_p.L611L|SMPD1_uc021qda.1_Non-coding_Transcript|SMPD1_uc009yex.3_Non-coding_Transcript NM_000543 NP_000534 P17405 ASM_HUMAN Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA. 610 cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) GTGCCGCCACCTGATGCCAGA 0.647000 58 9 0 0 1 0 0 ALDH5A1 7915 broad.mit.edu 37 6 24505192 24505192 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:24505192C>T uc003nef.3 + 3 733 c.705C>T c.(703-705)ttC>ttT p.F235F ALDH5A1_uc003neg.3_Silent_p.F235F NM_170740 NP_733936 P51649 SSDH_HUMAN Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 235 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1) 20 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) ACACGCCCTTCTCCGCCCTGG 0.567000 92 5 0 0 1 0 0 RELL1 768211 broad.mit.edu 37 4 37651040 37651040 + Missense_Mutation SNP T A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:37651040T>A uc003gsz.2 - 1 261 c.171A>T c.(169-171)gaA>gaT p.E57D RELL1_uc010ifc.3_Missense_Mutation_p.E57D NM_001085399 NP_001078869 Q8IUW5 RELL1_HUMAN Homo sapiens RELT-like 1 (RELL1), transcript variant 2, mRNA. 57 cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane endometrium(1)|large_intestine(3)|lung(1)|skin(1) 6 ATGCAATATATTCTGGGTGTC 0.498000 119 15 0 0 1 0 0 GALNS 2588 broad.mit.edu 37 16 88909200 88909200 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:88909200G>A uc010cid.3 - 2 417 c.176C>T c.(175-177)tCc>tTc p.S59F GALNS_uc002fly.4_Missense_Mutation_p.S53F|GALNS_uc002flz.4_Intron P34059 GALNS_HUMAN Homo sapiens galactosamine (N-acetyl)-6-sulfate sulfatase (GALNS), mRNA. 53 lysosome N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity|metal ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) GGTCTCTCTGGAGGGCTCTCC 0.602000 26 5 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248262956 248262956 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:248262956C>T uc001ids.3 + 2 616 c.279C>T c.(277-279)ttC>ttT p.F93F OR2L13_uc021pmc.1_Silent_p.F93F NM_175911 NP_787107 Q8N349 OR2LD_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA. 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) GCATCTCCTTCCTGGGATGTG 0.542000 120 7 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170068592 170068592 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:170068592G>A uc002ues.3 - 36 6379 c.6166C>T c.(6166-6168)Cgg>Tgg p.R2056W NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 2056 EGF-like 8. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GAGCAGGACCGATTATCAGGA 0.448000 29 5 0 0 1 0 0 MAG 4099 broad.mit.edu 37 19 35801017 35801017 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:35801017G>A uc002nyy.2 + 7 1670 c.1472G>A c.(1471-1473)aGg>aAg p.R491K MAG_uc002nyx.2_Missense_Mutation_p.R491K|MAG_uc010eds.2_Missense_Mutation_p.R466K|MAG_uc002nyz.2_Missense_Mutation_p.R491K NM_002361 NP_001186145 P20916 MAG_HUMAN Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA. 491 Ig-like C2-type 4. blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) TGCACCGCGAGGAACCTCTAT 0.697000 62 6 0 0 1 0 0 OPRK1 4986 broad.mit.edu 37 8 54141920 54141920 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:54141920G>A uc003xrh.1 - 2 1455 c.1080C>T c.(1078-1080)gtC>gtT p.V360V OPRK1_uc022aup.1_Silent_p.V240V|OPRK1_uc003xri.1_Silent_p.V360V|OPRK1_uc010lyc.1_Silent_p.V271V NM_000912 NP_000903 P41145 OPRK_HUMAN Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA. 360 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) CTGTATTTCGGACTCTGCTAG 0.483000 29 6 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123107241 123107241 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:123107241C>T uc003ieh.3 + 4 454 c.409C>T c.(409-411)Cat>Tat p.H137Y KIAA1109_uc003iei.1_5'UTR NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 137 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 CTTTGAATTTCATGTCTATAA 0.353000 15 7 0 0 1 0 0 OR52J3 119679 broad.mit.edu 37 11 5068517 5068517 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:5068517C>T uc010qyv.2 + 0 762 c.762C>T c.(760-762)atC>atT p.I254I NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA. 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I254I(2)|p.P255T(1) NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TTTTCTATATCCCTTCAGTCT 0.453000 15 3 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683577 100683577 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:100683577C>T uc003uxp.1 + 2 8933 c.8880C>T c.(8878-8880)acC>acT p.T2960T MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2960 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.T2960N(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACCTGTCACCACTTCTGCTG 0.488000 146 32 0 0 1 0 0 PTGFRN 5738 broad.mit.edu 37 1 117484384 117484384 + Nonsense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:117484384C>T uc001egv.1 + 1 234 c.97C>T c.(97-99)Cga>Tga p.R33* NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA. 33 Ig-like C2-type 1. Golgi apparatus|endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) GACCCTGGTTCGAGTGGTGGG 0.537000 110 7 0 0 1 0 0 SP3 6670 broad.mit.edu 37 2 174820667 174820667 + Silent SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:174820667A>G uc002uig.3 - 3 1104 c.573T>C c.(571-573)tcT>tcC p.S191S SP3_uc002uie.3_Silent_p.S123S|SP3_uc002uif.3_Silent_p.S138S|SP3_uc010zel.2_Silent_p.S188S NM_003111 NP_003102 Q02447 SP3_HUMAN Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA. 191 Transactivation domain (Gln-rich). negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) CATTATCTGAAGAGCCTGTGA 0.423000 137 29 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 142004878 142004878 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:142004878C>T uc002tvj.1 - 4 1481 c.509G>A c.(508-510)aGa>aAa p.R170K LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 170 EGF-like 2; calcium-binding (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATGTGTGTTTCTGCAGGTCTG 0.403000 TSP Lung(27;0.18) 9 4 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161157928 161157928 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:161157928C>T uc003qtm.4 + 13 1803 c.1691C>T c.(1690-1692)tCa>tTa p.S564L NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 564 extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GCGGCCCCTTCATTTGATTGT 0.507000 26 4 0 0 1 0 0 PM20D1 148811 broad.mit.edu 37 1 205814602 205814603 + Missense_Mutation DNP CC TT TT rs138877289 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:205814602_205814603CC>TT uc001hdj.3 - 2 415_416 c.339_340GG>AA c.(337-342)tcggac>tcAAac p.D114N PM20D1_uc009xbr.3_Non-coding_Transcript NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA. 114 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) AAGCTGGGGTCCGAGCCTTGGA 0.550000 83 7 0 0 1 0 0 TTLL13 440307 broad.mit.edu 37 15 90794019 90794019 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:90794019C>T uc002bpd.1 + 1 445 c.157C>T c.(157-159)Ccc>Tcc p.P53S TTLL13_uc002bpe.1_Non-coding_Transcript NM_001029964 NP_001025135 A6NNM8 TTL13_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA. 53 protein modification process ATP binding|tubulin-tyrosine ligase activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 16 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) AAATGGGGTTCCCTCACCCAT 0.473000 105 7 0 0 1 0 0 TUBA8 51807 broad.mit.edu 37 22 18613675 18613675 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:18613675C>T uc002znw.1 + 3 1491 c.1194C>T c.(1192-1194)gcC>gcT p.A398A TUBA8_uc002znv.2_Silent_p.A374A|TUBA8_uc021wkt.1_Silent_p.A308A NM_001193414 NP_001180343 Q9NY65 TBA8_HUMAN Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA. 374 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14 TGCAGCGGGCCGTCTGCATGC 0.642000 63 6 0 0 1 0 0 SLC4A8 9498 broad.mit.edu 37 12 51851302 51851302 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:51851302C>T uc001rys.1 + 5 920 c.742C>T c.(742-744)Cct>Tct p.P248S SLC4A8_uc010sni.2_Missense_Mutation_p.P195S|SLC4A8_uc001rym.3_Missense_Mutation_p.P195S|SLC4A8_uc001ryn.3_Missense_Mutation_p.P195S|SLC4A8_uc001ryo.2_Missense_Mutation_p.P195S|SLC4A8_uc001ryp.1_Missense_Mutation_p.P195S|SLC4A8_uc010snj.2_Missense_Mutation_p.P275S|SLC4A8_uc001ryq.4_Missense_Mutation_p.P248S|SLC4A8_uc001ryr.3_Missense_Mutation_p.P248S|SLC4A8_uc010snk.2_Missense_Mutation_p.P195S NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA. 248 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) GCAGTCTGATCCTCATTTGAT 0.393000 36 4 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33628097 33628097 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr13:33628097C>T uc001uus.3 + 1 1021 c.1013C>T c.(1012-1014)cCc>cTc p.P338L KL_uc001uur.1_Missense_Mutation_p.P31L NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN Homo sapiens klotho (KL), mRNA. 338 Glycosyl hydrolase-1 1. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding p.Y337S(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) GGTGACTATCCCGAGAGCATG 0.393000 56 16 0 0 1 0 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032080 46032080 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr21:46032080C>T uc002zfo.1 + 0 85 c.63C>T c.(61-63)tcC>tcT p.S21S TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198695 NP_941968 P60410 KR108_HUMAN Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA. 21 keratin filament breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 17 CTGTCTGCTCCAGTGACGTGG 0.622000 90 28 0 0 1 0 0 CALCA 796 broad.mit.edu 37 11 14990383 14990383 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:14990383G>A uc001mlv.1 - 3 439 c.388C>T c.(388-390)Cat>Tat p.H130Y CALCA_uc001mlt.2_Intron|CALCA_uc001mlu.2_Non-coding_Transcript|CALCA_uc001mlw.1_Missense_Mutation_p.H130Y NM_001741 NP_001732 P06881 CALCA_HUMAN Homo sapiens calcitonin-related polypeptide alpha (CALCA), transcript variant 1, mRNA. 0 activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation cytosol|extracellular space hormone activity central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 8 Phentolamine(DB00692) TGAGGGCGATGGTCTCTCTCC 0.488000 104 8 0 0 1 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030176 95030176 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:95030176G>A uc010avd.3 + 1 742 c.468G>A c.(466-468)agG>agA p.R156R SERPINA4_uc001ydk.3_Silent_p.R119R|SERPINA4_uc001ydl.3_Silent_p.R119R NM_006215 NP_006206 P29622 KAIN_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA. 119 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) ATGTCCATAGGGGCTTCCAGC 0.617000 68 6 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58109069 58109069 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:58109069G>A uc003djj.2 + 20 3541 c.3376G>A c.(3376-3378)Gac>Aac p.D1126N FLNB_uc010hne.2_Missense_Mutation_p.D1126N|FLNB_uc003djk.2_Missense_Mutation_p.D1126N|FLNB_uc010hnf.2_Missense_Mutation_p.D1126N|FLNB_uc003djl.2_Missense_Mutation_p.D957N|FLNB_uc003djm.2_Missense_Mutation_p.D957N NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 1126 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CTTCAAAGCTGACATTGAAAT 0.557000 124 13 0 0 1 0 0 SMPD4 55627 broad.mit.edu 37 2 130910937 130910937 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:130910937G>A uc002tqq.2 - 17 3246 c.2097C>T c.(2095-2097)atC>atT p.I699I SMPD4_uc002tqo.2_Silent_p.I231I|SMPD4_uc002tqp.2_Silent_p.I438I|SMPD4_uc010yzy.2_Silent_p.I448I|SMPD4_uc010yzz.2_Silent_p.I363I|SMPD4_uc002tqs.2_Silent_p.I567I|SMPD4_uc002tqr.2_Silent_p.I670I|SMPD4_uc010zaa.2_Silent_p.I557I|SMPD4_uc010zab.2_Silent_p.I597I|SMPD4_uc002tqt.2_Silent_p.I548I|SMPD4_uc010zac.2_Silent_p.I440I|SMPD4_uc010zad.2_Silent_p.I335I NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA. 660 sphingomyelin catabolic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) CCTCACCCACGATGCAGTCGG 0.627000 40 12 0 0 1 0 0 RUFY4 285180 broad.mit.edu 37 2 218940231 218940231 + Nonsense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:218940231G>A uc010fvl.2 + 8 1534 c.1016G>A c.(1015-1017)tGg>tAg p.W339* RUFY4_uc002vgw.3_Nonsense_Mutation_p.W166* NM_198483 NP_940885 Q6ZNE9 RUFY4_HUMAN Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA. 339 metal ion binding endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GAAGCAGAGTGGAGTCACGTC 0.607000 25 4 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74824491 74824491 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr14:74824491C>T uc021rwl.1 + 0 1005 c.1005C>T c.(1003-1005)ttC>ttT p.F335F VRTN_uc001xpw.4_Silent_p.F335F NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA. 335 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 TTCAGCAGTTCCTCCAGCGGT 0.662000 67 11 0 0 1 0 0 PARP1 142 broad.mit.edu 37 1 226570804 226570804 + Silent SNP G T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:226570804G>T uc001hqd.4 - 7 1263 c.1092C>A c.(1090-1092)tcC>tcA p.S364S NM_001618 NP_001609 P09874 PARP1_HUMAN Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA. 364 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) TGGCCGCCACGGAGGCGCTGG 0.512000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 248 9 6.40141e-05 6.4713e-05 1 1 0 NKAPL 222698 broad.mit.edu 37 6 28227232 28227232 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:28227232C>T uc003nkt.3 + 0 135 c.83C>T c.(82-84)cCa>cTa p.P28L ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN Homo sapiens NFKB activating protein-like (NKAPL), mRNA. 28 breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GGGAGCCCACCATCCCCGCAG 0.662000 50 5 0 0 1 0 0 ZNF273 10793 broad.mit.edu 37 7 64363779 64363779 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:64363779C>T uc003tto.3 + 0 160 c.84C>T c.(82-84)ctC>ctT p.L28L ZNF273_uc003ttl.3_Intron|ZNF273_uc003ttm.1_Non-coding_Transcript|ZNF273_uc003ttn.3_5'UTR|ZNF273_uc003ttp.1_Intron NM_021148 NP_066971 Q14593 ZN273_HUMAN Homo sapiens zinc finger protein 273 (ZNF273), transcript variant 1, mRNA. 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(55;0.0295)|all_lung(88;0.0691) CGCCAGGACTCCCTGGAAGCC 0.597000 80 4 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754727 49754727 + Silent SNP T C C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:49754727T>C uc003ozu.3 - 0 327 c.174A>G c.(172-174)gtA>gtG p.V58V NM_138733 NP_620061 P07205 PGK2_HUMAN Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA. 58 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) TCATAAGAACTACTGCCTTGG 0.478000 29 5 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108487731 108487731 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:108487731G>A uc010ywk.2 + 19 3353 c.3271G>A c.(3271-3273)Gag>Aag p.E1091K RGPD4_uc002tdu.3_Missense_Mutation_p.E278K|RGPD4_uc010ywl.2_Non-coding_Transcript NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 1091 RanBD1 1. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TCTCAAAAACGAGGTCAATGG 0.408000 126 10 0 0 1 0 0 STRN4 29888 broad.mit.edu 37 19 47226197 47226197 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:47226197G>A uc002pfm.3 - 13 1830 c.1797C>T c.(1795-1797)gtC>gtT p.V599V STRN4_uc002pfl.3_Silent_p.V592V|STRN4_uc010xyf.2_Non-coding_Transcript NM_001039877 NP_001034966 Q9NRL3 STRN4_HUMAN Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA. 592 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) CTGAGGTGGGGACCCCGTGCT 0.667000 56 5 0 0 1 0 0 KPNA2 3838 broad.mit.edu 37 17 66040613 66040613 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:66040613C>T uc002jgk.3 + 8 1473 c.1341C>T c.(1339-1341)atC>atT p.I447I KPNA2_uc002jgl.3_Silent_p.I447I NM_002266 NP_002257 P52292 IMA2_HUMAN Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2), mRNA. 447 DNA metabolic process|G2 phase of mitotic cell cycle|M phase specific microtubule process|NLS-bearing substrate import into nucleus|interspecies interaction between organisms|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2) 22 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) TTTCAAATATCTTTCAGGTAA 0.378000 336 19 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125025752 125025752 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr8:125025752G>A uc003yqw.3 + 14 2109 c.1903G>A c.(1903-1905)Gac>Aac p.D635N FER1L6-AS1_uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 635 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AGTGCTCAGTGACTTCATCAG 0.463000 8 4 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55984888 55984888 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:55984888C>T uc003has.3 - 2 543 c.241G>A c.(241-243)Gat>Aat p.D81N KDR_uc003hat.1_Missense_Mutation_p.D81N|KDR_uc011bzx.2_Missense_Mutation_p.D81N NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 81 Ig-like C2-type 1. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AAGAGGCCATCGCTGCACTCA 0.498000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 34 5 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43446795 43446795 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr18:43446795G>A uc002lbm.3 - 37 6689 c.6589C>T c.(6589-6591)Ctt>Ttt p.L2197F EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Missense_Mutation_p.L751F|EPG5_uc002lbn.2_Missense_Mutation_p.L1072F NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA. 2197 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 GGAATAGAAAGGCCCGCAGAC 0.438000 98 8 0 0 1 0 0 C6orf89 221477 broad.mit.edu 37 6 36882459 36882459 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:36882459C>T uc003omw.3 + 4 869 c.706C>T c.(706-708)Cct>Tct p.P236S C6orf89_uc003omv.3_Missense_Mutation_p.P123S|C6orf89_uc003omx.3_Missense_Mutation_p.P229S|C6orf89_uc011dtr.2_Missense_Mutation_p.P123S NM_152734 NP_689947 Q6UWU4 CF089_HUMAN Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA. 229 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 GTTCCCATTTCCTTATCCATG 0.557000 115 9 0 0 1 0 0 LMNA 4000 broad.mit.edu 37 1 156084789 156084789 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:156084789C>T uc001fni.2 + 0 329 c.80C>T c.(79-81)aCc>aTc p.T27I LMNA_uc001fnf.1_Missense_Mutation_p.T27I|LMNA_uc001fng.2_Missense_Mutation_p.T27I|LMNA_uc001fnh.2_Missense_Mutation_p.T27I|LMNA_uc009wro.1_Missense_Mutation_p.T27I NM_170707 NP_733821 P02545 LMNA_HUMAN Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA. 27 Head.|Interaction with MLIP. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) ACCCGCATCACCCGGCTGCAG 0.701000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 213 10 0 0 1 0 0 TPCN2 219931 broad.mit.edu 37 11 68852754 68852754 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:68852754G>A uc001oos.2 + 20 1954 c.1838_splice c.e20+1 p.S613_splice TPCN2_uc010rqg.1_Intron|TPCN2_uc021qmo.1_Intron NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN Homo sapiens two pore segment channel 2 (TPCN2), mRNA. 613 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GGAAACAGCAGGTGAGGTGGG 0.612000 73 7 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137623452 137623452 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:137623452C>T uc004cfe.3 + 7 1657 c.1275C>T c.(1273-1275)agC>agT p.S425S NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 425 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) accccACCAGCTCCCCGTCGG 0.632000 107 11 0 0 1 0 0 PRDM7 11105 broad.mit.edu 37 16 90141871 90141871 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:90141871G>A uc010cje.3 - 1 101 c.81C>T c.(79-81)gcC>gcT p.A27A PRDM7_uc010cjf.3_Intron|PRDM7_uc010cjh.1_Non-coding_Transcript NM_001098173 NP_001091643 Q9NQW5 PRDM7_HUMAN Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA. 27 KRAB-related. chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) TGTCTTTGAAGGCATCTTTGA 0.433000 180 25 0 0 1 0 0 GRHL3 57822 broad.mit.edu 37 1 24674032 24674032 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:24674032C>T uc021oiw.1 + 13 1848 c.1618C>T c.(1618-1620)Ctg>Ttg p.L540L GRHL3_uc001bix.3_Silent_p.L540L|GRHL3_uc021oix.1_Silent_p.L494L|GRHL3_uc001biy.3_Silent_p.L545L|GRHL3_uc001biz.3_Silent_p.L447L NM_198174 NP_937817 Q8TE85 GRHL3_HUMAN Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA. 540 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) CCTGAAGGGGCTGAGGAATGC 0.597000 116 7 0 0 1 0 0 RLBP1 6017 broad.mit.edu 37 15 89760502 89760502 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr15:89760502C>T uc002bnl.3 - 4 575 c.195G>A c.(193-195)gaG>gaA p.E65E NM_000326 NP_000317 P12271 RLBP1_HUMAN Homo sapiens retinaldehyde binding protein 1 (RLBP1), mRNA. 65 response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1) 18 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) TCTCCTGCAGCTCTCGCACTG 0.637000 83 9 0 0 1 0 0 KRT1 3848 broad.mit.edu 37 12 53070922 53070922 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:53070922C>T uc001sau.1 - 5 1234 c.1175G>A c.(1174-1176)aGa>aAa p.R392K KRT1_uc001sav.1_Missense_Mutation_p.R392K NM_006121 NP_006112 P04264 K2C1_HUMAN Homo sapiens keratin 1 (KRT1), mRNA. 392 Coil 2.|Rod. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.R392I(2)|p.R392*(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 CTTTGAATTTCTCACACTATC 0.423000 63 11 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27222596 27222596 + Silent SNP G A A rs141944192 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:27222596G>A uc003nja.3 + 9 1290 c.1275G>A c.(1273-1275)acG>acA p.T425T PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Silent_p.T168T|PRSS16_uc003njd.3_Intron NM_005865 NP_005856 Q9NQE7 TSSP_HUMAN Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA. 425 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity p.T425T(2) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 TGGCTCAGACGAACTCCTACT 0.567000 77 9 0 0 1 0 0 TOP2A 7153 broad.mit.edu 37 17 38568006 38568006 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:38568006G>A uc002huq.3 - 7 1013 c.854C>T c.(853-855)tCc>tTc p.S285F TOP2A_uc002hur.1_5'Flank NM_001067 NP_001058 P11388 TOP2A_HUMAN Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA. 285 DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) TACTTTCAAGGAGTTACCAGT 0.358000 29 10 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57062238 57062239 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:57062238_57062239CC>TT uc021tiu.1 + 6 2311_2312 c.2184_2185CC>TT c.(2182-2187)gcccga>gcTTga p.R729* NLRC5_uc021tit.1_Nonsense_Mutation_p.R729*|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Nonsense_Mutation_p.R534*|NLRC5_uc021tiw.1_Nonsense_Mutation_p.R534*|NLRC5_uc010ccr.1_Non-coding_Transcript NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 729 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) AAATCACTGCCCGAGGCATCAG 0.550000 76 10 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38690903 38690903 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:38690903C>T uc021yzh.1 + 1 427 c.318C>T c.(316-318)tcC>tcT p.S106S DNAH8_uc003ooe.2_5'UTR NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGCCGTCTTCCCGGAGGTCCT 0.493000 33 4 0 0 1 0 0 SCUBE2 57758 broad.mit.edu 37 11 9074744 9074744 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:9074744G>A uc001mhi.2 - 11 1424 c.1349C>T c.(1348-1350)cCc>cTc p.P450L SCUBE2_uc021qdk.1_5'Flank|SCUBE2_uc001mhj.2_Intron NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA. 450 extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) CACACTTGTGGGCAGGAGCCC 0.522000 40 4 0 0 1 0 0 CYP2B6 1555 broad.mit.edu 37 19 41509945 41509945 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:41509945G>A uc002opr.1 + 1 218 c.211G>A c.(211-213)Gga>Aga p.G71R CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.G31R NM_000767 NP_000758 P20813 CP2B6_HUMAN Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA. 71 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) GGTACACCTGGGACCGAGGCC 0.557000 56 4 0 0 1 0 0 ARL9 132946 broad.mit.edu 37 4 57377506 57377506 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:57377506C>T uc003hby.1 + 1 457 c.9C>T c.(7-9)ttC>ttT p.F3F NM_206919 NP_996802 Q6T311 ARL9_HUMAN Homo sapiens ADP-ribosylation factor-like 9 (ARL9), mRNA. 67 GTP binding lung(2) 2 Glioma(25;0.08)|all_neural(26;0.101) AGATGGAGTTCCTGGAGAGTA 0.443000 63 4 0 0 1 0 0 LDLRAD3 143458 broad.mit.edu 37 11 36057669 36057669 + Silent SNP C A A rs149080200 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:36057669C>A uc001mwk.1 + 1 100 c.63C>A c.(61-63)ccC>ccA p.P21P LDLRAD3_uc010rey.1_Intron|LDLRAD3_uc010rez.1_Intron NM_174902 NP_777562 Q86YD5 LRAD3_HUMAN Homo sapiens low density lipoprotein receptor class A domain containing 3 (LDLRAD3), mRNA. 21 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1) 28 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) AGCTGCTCCCCGGGAACAACT 0.592000 48 13 0.000151284 0.000152869 1 1 0 PCDH15 65217 broad.mit.edu 37 10 56089462 56089462 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:56089462G>A uc010qhy.1 - 7 1009 c.614C>T c.(613-615)tCc>tTc p.S205F PCDH15_uc010qhq.2_Missense_Mutation_p.S205F|PCDH15_uc010qhr.2_Missense_Mutation_p.S200F|PCDH15_uc021pqv.1_Missense_Mutation_p.S200F|PCDH15_uc021pqw.1_Missense_Mutation_p.S205F|PCDH15_uc010qht.2_Missense_Mutation_p.S200F|PCDH15_uc021pqx.1_Missense_Mutation_p.S200F|PCDH15_uc001jjv.1_Missense_Mutation_p.S178F|PCDH15_uc021pqy.1_Missense_Mutation_p.S200F|PCDH15_uc021pqz.1_Missense_Mutation_p.S178F|PCDH15_uc010qhv.1_Missense_Mutation_p.S200F|PCDH15_uc010qhw.1_Intron|PCDH15_uc010qhx.1_Missense_Mutation_p.S200F|PCDH15_uc010qhz.1_Missense_Mutation_p.S200F|PCDH15_uc010qia.1_Missense_Mutation_p.S178F|PCDH15_uc001jju.1_Missense_Mutation_p.S200F|PCDH15_uc010qib.1_Missense_Mutation_p.S178F|PCDH15_uc001jjw.3_Missense_Mutation_p.S200F NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 200 Cadherin 2. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GGTGTCATTGGATGTCTGCAA 0.323000 HNSCC(58;0.16) 9 3 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240071631 240071631 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:240071631G>A uc021plc.1 + 0 880 c.880G>A c.(880-882)Gaa>Aaa p.E294K CHRM3_uc001hyp.3_Missense_Mutation_p.E294K NM_000740 NP_000731 P20309 ACM3_HUMAN Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA. 294 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CAGCAGTTACGAACTTCAACA 0.547000 27 7 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168107683 168107683 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:168107683G>A uc002udx.3 + 8 9870 c.9781G>A c.(9781-9783)Gaa>Aaa p.E3261K XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E3086K|XIRP2_uc010fpq.3_Missense_Mutation_p.E3039K|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 3086 actin cytoskeleton organization cell junction actin binding p.E3260G(1)|p.E3260E(1)|p.E3260*(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CGCTCAAGAGGAAATCAGGAA 0.423000 8 3 0 0 1 0 0 SBSN 374897 broad.mit.edu 37 19 36017662 36017662 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:36017662C>T uc002oad.2 - 0 1592 c.1522G>A c.(1522-1524)Gaa>Aaa p.E508K SBSN_uc002oae.2_Missense_Mutation_p.E165K|SBSN_uc021usp.1_Intron NM_001166034 NP_001159506 Q6UWP8 SBSN_HUMAN Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA. 165 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TTCTCCACTTCCTTTCCAGCC 0.597000 86 7 0 0 1 0 0 LHFPL1 340596 broad.mit.edu 37 X 111874685 111874685 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chrX:111874685G>A uc004epp.3 - 2 768 c.695C>T c.(694-696)tCt>tTt p.S232F LHFPL1_uc004epq.3_Missense_Mutation_p.S209F|LHFPL1_uc010nqa.3_Non-coding_Transcript|LHFPL1_uc010nqb.3_Missense_Mutation_p.S176F NM_178175 NP_835469 Q86WI0 LHPL1_HUMAN Homo sapiens lipoma HMGIC fusion partner-like 1 (LHFPL1), mRNA. 209 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6) 13 CATAGCATAAGAATTGGTATT 0.493000 27 5 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28193505 28193505 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:28193505G>A uc003adj.3 - 0 3982 c.3027C>T c.(3025-3027)tcC>tcT p.S1009S NM_002430 NP_002421 Q10571 MN1_HUMAN Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA. 1009 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 CCTTCCCCCAGGATGGCGACG 0.697000 T ETV6 """AML, meningioma""" 46 5 0 0 1 0 0 DCAF6 55827 broad.mit.edu 37 1 168014372 168014372 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:168014372C>T uc001gew.3 + 13 2287 c.1934C>T c.(1933-1935)tCc>tTc p.S645F DCAF6_uc001gex.3_Missense_Mutation_p.S722F|DCAF6_uc010plk.2_Missense_Mutation_p.S691F|DCAF6_uc001gev.3_Missense_Mutation_p.S665F|DCAF6_uc001gey.3_Missense_Mutation_p.S518F|DCAF6_uc001gez.3_5'UTR NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA. 645 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 GAAGAAACATCCACCAGGGAC 0.502000 16 5 0 0 1 0 0 FBXW12 285231 broad.mit.edu 37 3 48414338 48414338 + Silent SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:48414338G>A uc003csr.3 + 1 267 c.81G>A c.(79-81)caG>caA p.Q27Q FBXW12_uc010hjv.3_Intron|FBXW12_uc003css.3_Silent_p.Q27Q|FBXW12_uc010hjw.3_Intron NM_207102 NP_996985 Q6X9E4 FBW12_HUMAN Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA. 27 F-box. breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGGTTTCCCAGGTGAACAAGG 0.542000 75 14 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18807986 18807986 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:18807986G>A uc001bax.3 + 0 563 c.511G>A c.(511-513)Gga>Aga p.G171R KLHDC7A_uc009vpg.3_5'UTR NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA. 171 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CTCCCCAGCTGGACTCATTGC 0.617000 52 5 0 0 1 0 0 USP53 54532 broad.mit.edu 37 4 120182982 120182982 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr4:120182982C>T uc003ics.4 + 10 2001 c.935C>T c.(934-936)tCc>tTc p.S312F USP53_uc003icr.4_Missense_Mutation_p.S312F|USP53_uc003icu.4_5'UTR NM_019050 NP_061923 Q70EK8 UBP53_HUMAN Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA. 312 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 ACCAAAAGTTCCAAATGGGTA 0.313000 33 4 0 0 1 0 0 FAM19A3 284467 broad.mit.edu 37 1 113266579 113266579 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:113266579C>T uc001ecu.3 + 3 347 c.278C>T c.(277-279)gCt>gTt p.A93V FAM19A3_uc001ecv.3_Intron|FAM19A3_uc010owk.2_Non-coding_Transcript|FAM19A3_uc010owl.2_Intron NM_001004440 NP_001004440 Q7Z5A8 F19A3_HUMAN Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A3 (FAM19A3), transcript variant 2, mRNA. 0 extracellular region lung(4)|ovary(1) 5 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGCTCTTGGCTGCCCACTGT 0.607000 61 5 0 0 1 0 0 CSF1 1435 broad.mit.edu 37 1 110465858 110465858 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:110465858C>T uc001dyu.2 + 5 1028 c.615C>T c.(613-615)gtC>gtT p.V205V CSF1_uc001dyt.2_Silent_p.V205V|CSF1_uc021ori.1_Intron|CSF1_uc001dyw.4_Silent_p.V205V|CSF1_uc021orj.1_Intron NM_172212 NP_757351 P09603 CSF1_HUMAN Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA. 205 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) CGGCCTCTGTCTCCCCTCATC 0.607000 OREG0013645 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 97 14 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109971273 109971273 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:109971273C>T uc001top.3 + 26 3528 c.2925C>T c.(2923-2925)ttC>ttT p.F975F UBE3B_uc001toq.3_Silent_p.F975F|UBE3B_uc001tos.3_Silent_p.F402F|UBE3B_uc001tot.3_Silent_p.F93F|UBE3B_uc010sxp.1_Silent_p.F93F NM_130466 NP_904324 Q7Z3V4 UBE3B_HUMAN Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA. 975 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 TGTTGCAGTTCGTGACCAGCT 0.617000 112 8 0 0 1 0 0 LCN12 286256 broad.mit.edu 37 9 139847361 139847361 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:139847361C>T uc004ckc.3 + 1 140 c.132C>T c.(130-132)ttC>ttT p.F44F LCN12_uc022bpx.1_Silent_p.F44F|LCN12_uc004ckb.3_Silent_p.F44F Q6JVE5 LCN12_HUMAN Homo sapiens lipocalin 12 (LCN12), mRNA. 44 lipid metabolic process extracellular region binding|transporter activity endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) GGGAATGGTTCGTCCTGGGCC 0.672000 172 21 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47612360 47612360 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr20:47612360C>T uc002xtx.4 + 22 3314 c.3162C>T c.(3160-3162)gcC>gcT p.A1054A ARFGEF2_uc010zyf.2_Silent_p.A347A NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA. 1054 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction Golgi membrane|cytosol ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) GACAGATGGCCAGCTTCCAAG 0.438000 119 11 0 0 1 0 0 CLASP1 23332 broad.mit.edu 37 2 122206628 122206628 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:122206628G>A uc002tnc.3 - 16 1982 c.1592C>T c.(1591-1593)tCc>tTc p.S531F CLASP1_uc002tna.3_5'UTR|CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Missense_Mutation_p.S531F|CLASP1_uc010yza.2_Missense_Mutation_p.S531F|CLASP1_uc021vnl.1_Missense_Mutation_p.S531F|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tng.1_Missense_Mutation_p.S531F NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA. 531 Ser-rich. G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) TTTCTGGTAGGAGGACTCCAA 0.493000 23 4 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32026072 32026072 + Missense_Mutation SNP C G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr6:32026072C>G uc003nzl.2 - 21 7790 c.7588G>C c.(7588-7590)Gtg>Ctg p.V2530L NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 2590 Fibronectin type-III 17. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GATCCTGTCACTGTCAGCTCC 0.662000 336 26 0 0 1 0 0 RBM19 9904 broad.mit.edu 37 12 114358414 114358414 + Splice_Site SNP A G G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:114358414A>G uc009zwi.2 - 19 2529 c.2385_splice c.e19+1 p.Q795_splice RBM19_uc001tvn.4_Splice_Site_p.Q795_splice|RBM19_uc001tvm.3_Splice_Site_p.Q795_splice NM_001146699 NP_057280 Q9Y4C8 RBM19_HUMAN Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA. 795 RRM 5. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm RNA binding|nucleotide binding p.?(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) tcTTCACTTTACCTGGAGCTG 0.522000 269 20 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11676576 11676576 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr7:11676576C>T uc021zzo.1 - 1 455 c.203G>A c.(202-204)cGa>cAa p.R68Q THSD7A_uc021zzn.1_Missense_Mutation_p.R68Q NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA. 68 TSP type-1 1. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TCCCATACATCGGCCCCATGG 0.453000 HNSCC(18;0.044) 48 8 0 0 1 0 0 MLKL 197259 broad.mit.edu 37 16 74709642 74709642 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr16:74709642C>T uc002fdb.2 - 7 1500 c.1059G>A c.(1057-1059)agG>agA p.R353R MLKL_uc002fdc.2_Intron NM_152649 NP_689862 Q8NB16 MLKL_HUMAN Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA. 353 Protein kinase. ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 TCTGTGTTTTCCTCAACTCAA 0.423000 51 4 0 0 1 0 0 ANKRD22 118932 broad.mit.edu 37 10 90582732 90582732 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:90582732G>A uc001kfj.4 - 5 910 c.542C>T c.(541-543)tCc>tTc p.S181F NM_144590 NP_653191 Q5VYY1 ANR22_HUMAN Homo sapiens ankyrin repeat domain 22 (ANKRD22), mRNA. 181 p.S181F(2) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 Colorectal(252;0.0163) Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05) TTCAATCTGGGAAAATTTTAA 0.393000 84 9 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102030466 102030466 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr12:102030466G>A uc001tii.3 + 7 690 c.550G>A c.(550-552)Gat>Aat p.D184N MYBPC1_uc001tif.2_Missense_Mutation_p.D197N|MYBPC1_uc001tig.3_Missense_Mutation_p.D209N|MYBPC1_uc010svr.2_Missense_Mutation_p.D184N|MYBPC1_uc010svs.2_Missense_Mutation_p.D184N|MYBPC1_uc001tij.3_Missense_Mutation_p.D184N|MYBPC1_uc010svt.2_Missense_Mutation_p.D172N|MYBPC1_uc010svu.2_Intron|MYBPC1_uc001tik.3_Missense_Mutation_p.D158N|MYBPC1_uc001tih.3_Missense_Mutation_p.D209N|MYBPC1_uc010svq.2_Missense_Mutation_p.D171N NM_206820 NP_996556 Q00872 MYPC1_HUMAN Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA. 184 cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 AGGTCAAGAGGATGCAGGAGA 0.438000 20 3 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227886836 227886836 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:227886836G>A uc021vxr.1 - 42 4245 c.4144C>T c.(4144-4146)Cct>Tct p.P1382S COL4A4_uc021vxs.1_Missense_Mutation_p.P1379S NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 1382 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GGCGCCCCAGGAAGGCCTGGG 0.567000 173 35 0 0 1 0 0 CAPSL 133690 broad.mit.edu 37 5 35910093 35910093 + Missense_Mutation SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr5:35910093C>T uc003jjt.1 - 3 495 c.400G>A c.(400-402)Gaa>Aaa p.E134K CAPSL_uc003jju.1_Missense_Mutation_p.E134K NM_001042625 NP_653248 Q8WWF8 CAPSL_HUMAN Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA. 134 EF-hand 3. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) CGAAGGTCTTCGATTGTTATA 0.383000 56 10 0 0 1 0 0 APOC4 346 broad.mit.edu 37 19 45448544 45448544 + RNA SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:45448544G>A uc002pah.3 + 2 c.406G>A APOC4_uc021uvn.1_5'Flank NM_001646 P55056 APOC4_HUMAN Homo sapiens apolipoprotein C-IV (APOC4), mRNA. lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis high-density lipoprotein particle|very-low-density lipoprotein particle lipid transporter activity breast(1)|endometrium(1)|lung(2) 4 Lung NSC(12;0.00858)|all_lung(12;0.0197) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178) TTGTCTGTGGGGACAAGGACC 0.567000 292 59 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40059777 40059777 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr22:40059777C>T uc003ayc.3 + 18 3528 c.3528C>T c.(3526-3528)gtC>gtT p.V1176V CACNA1I_uc003ayd.3_Silent_p.V1141V|CACNA1I_uc003aye.3_Silent_p.V1091V|CACNA1I_uc003ayf.3_Silent_p.V1056V NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 1176 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) ACTACGTCGTCCTGGCCTTCA 0.632000 143 12 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804610 27804610 + Missense_Mutation SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr2:27804610G>A uc002rkz.4 + 0 5222 c.5171G>A c.(5170-5172)aGg>aAg p.R1724K ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA. 1724 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CCCGCTCGGAGGAGCCATCGC 0.562000 176 14 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179659832 179659832 + Splice_Site SNP G A A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:179659832G>A uc010pnp.2 + 18 3379 c.2861_splice c.e18-1 p.V954_splice TDRD5_uc021pfm.1_Splice_Site_p.V900_splice|TDRD5_uc001gnf.2_Splice_Site_p.V900_splice|TDRD5_uc021pfn.1_Splice_Site_p.V954_splice|TDRD5_uc001gnh.2_Splice_Site_p.V455_splice NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 900 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 CTTTTCCAGTGGAAAGCTCAC 0.403000 34 5 0 0 1 0 0 CRTAM 56253 broad.mit.edu 37 11 122742083 122742083 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr11:122742083C>T uc001pyj.3 + 9 1158 c.1158C>T c.(1156-1158)atC>atT p.I386I CRTAM_uc001pyk.3_Silent_p.I187I NM_019604 NP_062550 O95727 CRTAM_HUMAN Homo sapiens cytotoxic and regulatory T cell molecule (CRTAM), mRNA. 386 cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1) 19 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) AAAAGCACATCCAAGTACCAG 0.443000 33 4 0 0 1 0 0 KCNK2 3776 broad.mit.edu 37 1 215259970 215259970 + Silent SNP C T T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:215259970C>T uc001hkq.3 + 1 475 c.306C>T c.(304-306)ttC>ttT p.F102F KCNK2_uc001hko.3_Silent_p.F98F|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Non-coding_Transcript|KCNK2_uc010pua.1_Non-coding_Transcript|KCNK2_uc001hkr.4_Silent_p.F87F NM_001017425 NP_001017425 O95069 KCNK2_HUMAN Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA. 102 outward rectifier potassium channel activity p.F87L(1)|p.F102L(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) AGCAAACATTCATATCCCAAC 0.463000 77 8 0 0 1 0 0 WDR65 149465 broad.mit.edu 37 1 43647265 43647265 + Frame_Shift_Del DEL C - - TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr1:43647265delC uc021omk.1 + 2 364 c.218delC c.(217-219)gctfs p.A73fs EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Frame_Shift_Del_p.A62fs|WDR65_uc001ciq.2_Frame_Shift_Del_p.A73fs|WDR65_uc001cip.2_Frame_Shift_Del_p.A73fs NM_001195831 NP_001182760 Q96MR6 WDR65_HUMAN Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA. 73 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGGTACCTCGCTATCTCTGAG 0.458 --- 51 --- --- 15 --- MLH1 4292 broad.mit.edu 37 3 37081681 37081681 + Frame_Shift_Del DEL C - - TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr3:37081681delC uc003cgl.3 + 13 1761 c.1563delC c.(1561-1563)ctcfs p.L521fs MLH1_uc011aye.2_Frame_Shift_Del_p.L280fs|MLH1_uc011ayb.2_Frame_Shift_Del_p.L280fs|MLH1_uc010hge.3_Frame_Shift_Del_p.L521fs|MLH1_uc011ayc.2_Frame_Shift_Del_p.L423fs|MLH1_uc011ayd.2_Frame_Shift_Del_p.L280fs|MLH1_uc003cgo.3_Frame_Shift_Del_p.L280fs|MLH1_uc003cgn.4_Frame_Shift_Del_p.L280fs|MLH1_uc010hgj.1_Frame_Shift_Del_p.L163fs|MLH1_uc010hgk.3_Frame_Shift_Del_p.L163fs|MLH1_uc010hgl.1_Frame_Shift_Del_p.L96fs|MLH1_uc010hgn.3_Frame_Shift_Del_p.L163fs|MLH1_uc010hgm.3_Intron|MLH1_uc010hgo.3_Intron|MLH1_uc010hgp.3_5'Flank|MLH1_uc010hgq.3_5'Flank NM_000249 NP_001161091 P40692 MLH1_HUMAN Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA. 521 Interaction with EXO1. mismatch repair|somatic hypermutation of immunoglobulin genes MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 TTGCAGTTCTCCGGGAGATGT 0.458 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome --- 37 --- --- 8 --- SMARCA2 6595 broad.mit.edu 37 9 2039777 2039779 + In_Frame_Del DEL CAG - - rs113070757 byFrequency TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr9:2039777_2039779delCAG uc003zhc.3 + 3 766_768 c.667_669delCAG c.(667-669)cagdel p.Q238del SMARCA2_uc003zhd.3_In_Frame_Del_p.Q238del|SMARCA2_uc010mha.3_In_Frame_Del_p.Q229del NM_003070 NP_003061 P51531 SMCA2_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA. 238 Poly-Gln. Missing (in Ref. 1; CAA51407). chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) gcagcagcaacagcagcagcagc 0.635 --- 8 --- --- 5 --- STAM 8027 broad.mit.edu 37 10 17737055 17737058 + Frame_Shift_Del DEL GTTG - - TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr10:17737055_17737058delGTTG uc001ipj.2 + 6 758_761 c.543_546delGTTG c.(541-546)gagttgfs p.E181fs STAM_uc010qcf.2_Frame_Shift_Del_p.E70fs|STAM_uc009xjw.2_5'UTR NM_003473 NP_003464 Q92783 STAM1_HUMAN Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 (STAM), transcript variant 1, mRNA. 181 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 26 TAGCCATTGAGTTGTCTCTCAAGG 0.382 --- 51 --- --- 10 --- ERAL1 26284 broad.mit.edu 37 17 27185807 27185807 + Frame_Shift_Del DEL T - - TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:27185807delT uc002hcy.1 + 6 935 c.925delT c.(925-927)tcafs p.S309fs ERAL1_uc002hcz.1_Intron|ERAL1_uc002hda.1_Frame_Shift_Del_p.S116fs|MIR451B_uc021ttw.1_5'Flank NM_005702 NP_005693 O75616 ERAL1_HUMAN Homo sapiens Era G-protein-like 1 (E. coli) (ERAL1), mRNA. 309 ribosomal small subunit assembly mitochondrial inner membrane|mitochondrial matrix GTP binding|rRNA binding|ribosomal small subunit binding endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105) CTTCATGTTGTCAGCCCTAAG 0.507 --- 218 --- --- 32 --- SGSH 6448 broad.mit.edu 37 17 78188470 78188473 + Frame_Shift_Del DEL CCGC - - rs104894638 TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr17:78188470_78188473delCCGC uc002jxz.4 - 3 534_537 c.447_450delGCGG c.(445-450)gggcggfs p.G149fs SGSH_uc002jya.4_5'UTR|SGSH_uc002jxy.2_Frame_Shift_Del_p.G149fs|SGSH_uc010wue.1_Frame_Shift_Del_p.G161fs NM_000199 NP_000190 P51688 SPHM_HUMAN Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA. 149 proteoglycan metabolic process lysosome N-sulfoglucosamine sulfohydrolase activity|metal ion binding|sulfuric ester hydrolase activity central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TAGTGATGTTCCGCCCCACCTGGA 0.627 --- 44 --- --- 8 --- ZNF419 79744 broad.mit.edu 37 19 58004884 58004884 + Frame_Shift_Del DEL G - - TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba3570af-a282-4f88-890f-8eabea099d12 541b06b9-a34e-4ee8-af13-e66fed3c39f4 g.chr19:58004884delG uc010ety.1 + 4 1202 c.962delG c.(961-963)tgtfs p.C321fs ZNF419_uc002qov.2_Frame_Shift_Del_p.C320fs|ZNF419_uc010etz.1_Frame_Shift_Del_p.C308fs|ZNF419_uc002qow.2_Frame_Shift_Del_p.C288fs|ZNF419_uc010eua.1_Frame_Shift_Del_p.C307fs|ZNF419_uc010eub.1_Frame_Shift_Del_p.C275fs|ZNF419_uc010euc.1_Frame_Shift_Del_p.C274fs NM_001098491 NP_001091961 Q96HQ0 ZN419_HUMAN Homo sapiens zinc finger protein 419 (ZNF419), transcript variant 1, mRNA. 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) TGCAGTGAATGTGGAAAATTG 0.393 --- 51 --- --- 10 ---